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Table 1 IAP insertions

From: Mouse germ line mutations due to retrotransposon insertions

aMutation MGI IDb Strain of origin Year mutation arose Location & Orientationc Mutational mechanism(s) or effects References
a A hvy 1855945 C3H/HeJ ~ 1994 Exon 1C,-c IAP forms 5′-end of transcriptd, Regulation by methylation [181]
a A iapy 1856403 C57BL/6J xC3H male 1992 Intron, − IAP forms 5′-end of transcriptd, Regulation by methylation [182]
A iy 1855933 C3H/HeJ 1964 Intron 1, − IAP forms 5′-end of transcriptd, transcript contains internal IAP sequence [183]
a A vy 1855930 C3H/HeJ 1960 Exon 1A, − IAP forms 5′-end of transcriptd, Regulation by methylation [92, 183]
Adamts13 s 3579136 unknown, present in several strains ? Intron 23, + IAP causes premature polyadenylation and protein truncation. Reduced enzyme activity but no obvious phenotype [184, 185]
Ap3d1 mh-2J 1856084 C3H/HeJ Before 1988 Intron 21, + Transcript contains internal IAP sequence, Truncated protein [186]
Atcay ji-hes 1856898 C3H/HeJ-Tyrc-a 1987 Intron 1, + Transcript contains internal IAP sequence [187]
Atp2b2 jog 3664103 DSO, derived from C3H/He-Pw hybrid 2000 Intron,+ Reduced mRNA levels, likely by terminating at poly(A) in IAP, also cryptic splicing suggested [188]
Atrn mg 1856081 C3H – Swiss stock cross 1950 Intron 26, − Transcript contains internal IAP sequence, Truncated protein, Likely termination in IAP [189]
Atrn mg-L 2156486 C3H/HeJ 1981 Intron 27, + Transcript contains internal IAP sequence, Reduced protein levels, Likely termination in IAP [189]
a Axin1 Fu 1856035 Bussey stock Before 1931 Intron 6, − IAP forms 5′-end of transcriptd, Regulation by methylation, and transcript contains internal IAP sequence, Truncated protein [190, 191]
a Axin1 Fu-kb 1856037 unknown mid 1970s? Exon 7, − IAP forms 5′-end of transcriptd, transcript contains internal IAP sequence, Internally deleted protein [190]
Clcc1 m1J 5618134 C3H/HeSnJ After 1947 Intron 2, + Transcripts contains internal IAP sequence, Reduced normal mRNA levels [192]
Cryge No3 3713105 C3H/HeH ×  102/E1 F1 Late 1990s Exon 3, + Reduced mRNA levels, Transcript contains internal IAP sequence, Truncated protein [193]
Dab1 scm 1856801 Dc/Le (Dc arose in an obese stock outcrossed to BALB/c x C3H/He hybrid. One cross to C3H/HeJ, then inbred.) 1991 Intron, − Transcript contains internal IAP sequence, Truncated protein [194, 195]
Dnmt3C IAP N C3HeB/FeJ From chemical induction exp. ~ 2014 Last intron, − IAP provides alternate splice acceptor site, resulting in exclusion of Dnmt3C last exon, chimeric Dnmt3C-IAP mRNA [97]
Eya1 bor 1857803 C3HeB/FeJ 1984 Intron 7, + Transcript contains internal IAP sequence, Reduced mRNA levels [25]
Gata3 jal 3027100 C3H/HeJ 1990s Intron 3, − Unknown [196]
Gpr179 nob5 5431477 C3H After 1951 Intron 1, + Drastically reduces gene expression [197, 198]
Gria4 spkw1 3580141 (QTL) C3H/HeJ 1950–2002 Intron 15, + Full-length protein expression is significantly reduced [199]
Gusb mps-2J 2152564 C3H/HeOuJ mid 1990s? Intron 8, +, Reduced mRNA size and level, No enzyme activity detected [200]
Hps3 coa-6J 1861609 C3H/HeJ 1999? Exon 10, − Transcript contains internal IAP sequence [201]
Hps1 ep 1856712 C3HeB/FeJ 1957 3′-coding exon, − Transcript contains internal IAP sequence, Protein contains IAP-encoded amino acids [202]
Hps6 ru-6J 1856410 C3H/HeJ 1995 Unknown, + Kidney: loss of expression, Brain: transcript contains IAP sequence [203]
Kcnq1 vtg-2J 2389447 C3H/HeJCrl-Il2tm1Hor ~ 2000 Exon 2, − IAP fusion transcript likely promoted by antisense LTR. IAP provides 5′ end of 31 bp fused in frame to the gene. [204]
LamB3 IAP 2179716 C3H (C3Hf/R1 male bred separately from JAX for decades) ~ 1990 Intron/exon junction (5′), − Transcript contains internal IAP sequence, No mRNA or protein expression [205]
Mc1r mpc59H 5791971 C3H.Pde6b 2010 Exon,? Disruption of single exon gene [206]
Mgrn1 md 1856070 C3H/HeJ ~ 1960 Intron 11, + Reduced mRNA levels, aberrantly sized transcripts [207, 208]
Mgrn1 md-2J 1856072 C3H/HeJ 1978–1993 Exon 12, + Reduced mRNA levels, aberrantly sized transcripts [207, 208]
Mgrn1 md-5J 1856519 C3H/HeJ 1978–1993 Intron 2, + Not characterized [207, 208]
Oprm1 IAP N CXBK recomb. Inbred of B6 & Balb Before 1984 Exon 4,? Decreased mRNA levels, increase in length of 3’UTR. Modifies response to opioids [209]
Pcnx2 C3H/HeJ 6161760 C3H/HeJ After 1950 Intron 19, + Modifier of Gria4 mutation, reduces Pcnx2 expression [83]
Pitpna vb 1856642 DBA/2J Early 1960s Intron 4, + Transcript contains internal IAP sequence, Reduced mRNA & protein [210]
Pla2g6 m1J 4412026 C3H/HeJ mid 2000s Intron 1,? Reduces normal gene transcripts by ~ 90% [211]
Plcd3 mNab N C3H mix ~ 2005 Intron 2, − Causes truncated protein, LTR may act as antisense promoter? [212]
Pofut1 cax 3719000 C3H/HeJ mid 2000s Intron 4, Reduced mRNA and protein levels [213]
Reln rl-Alb2 1857345 C3H/HeJ From chemical ind. Exp. ~ 1990 Exon 36, − Exon skipping, Reduced mRNA levels [214]
Slc35d3 IAP 3802578 C3H/HeSn-Rab27aash/JRos 1980s–1990s Exon 1, − IAP fusion transcript likely promoted by antisense LTR. IAP provides 5′ end of 18 bp fused in frame to the gene. [215]
Spta1 sph-Dem 2388936 CcS3/Dem recomb. Con. strain from BALB/cHeA and STS/A 1991 Intron 10/exon 11 junction, + Exon skipping, Reduced protein expression, Reduced α−/β-spectrin dimer and tetramer stability [216]
Tal1 Hpt 1859843 C57BL/6J x C3HeB/FeJLe-a/a)F1. 1979 Intron 4, + Promotes overexpression of exons 4 and 5, fusion transcripts found. [217]
Tnfrsf13c Bcmd1 2389403 (QTL) A/WySnJ Before 1991 Exon 3, + Fusion transcripts, Loss of function mutation [218]
Tyr cm1OR 2153728 C3Hf/R1 1988 Upstream, − IAP does not form 5′-end of transcript, Reduced mRNA expression [219]
Usp14 ax-J 1855959 CBA or kreisler stock Early 1950s Intron 5, + Transcript contains internal IAP sequence, Reduced mRNA levels, Truncated protein [220]
Wnt9b clf1 1856821 A 1920s Downstream, + Produces transcript antisense to Wnt9b. [221, 222]
Zfp69 IAP N Unknown, present in C57BL/6, NZO, other strains ? Intron 3 of Zfp69, + IAP causes premature polyadenylation and alternate splicing. Loss of functional Zfp69 in strains carrying the IAP is protective against diabetes. [223]
9630033F20Rik N C3H/HeDiSnJ ~ 1985? Exon 5, − Deletion of exon 5, decreased gene expression. Occurs in “lew” mice with point mutation in Vamp1 thought to be cause. IAP may contribute. [224, 225]
  1. aVariable phenotype or expression (metastable epiallele)
  2. bID number in Mouse Genome Informatics (MGI) database, “N” indicates not present in MGI
  3. c- = antisense, + = sense,? = orientation unknown
  4. dEctopic expression of IAP-driven transcript