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Table 6 SINEs and other L1-mediated insertions

From: Mouse germ line mutations due to retrotransposon insertions

Mutation MGI IDa Strain of origin Insertion type, location, and orientationb Mutational mechanisms or effects References
Atcay ji 1856574 Bagg albino B1, exon 4, + B1 insertion causes protein truncation and rare exon skipping [187, 284]
Comt B2i 4819952 Strain variant, likely origin in Lathrop stock B2, 3′ UTR, + Premature polyadenylation leads to shortened 3’UTR and increased protein expression. Associated with behavioral difference. [170, 171]
Gsdma3 Dfl 2385837 BALB/c B2, exon 7, + B2 causes premature termination, transcript includes B2 sequence [285]
Ndufs4 fky 4942335 Male Dnmt3L +/− x female transgenic RIP-mOVA C57BL/6 B2, exon 3, + B2 insertion causes exon skipping and premature termination [286]
Nrcam m1J 5444298 B6.129P2-Cnr2tm1Dgen/J B2, exon 26, − Aberrant splicing and premature termination [287]
Poc1a cha 2135614 DBA.B6-Ahvy/a x DBA/2J Gene cDNA, exon 8, − L1 mediated insertion of Cenpw cDNA in exon 8. Exon 8 is skipped, reading frame preserved [165]
Ptpn6 me-B2 4947257 BALB/c B2, exon 6, + Replacement of exon 6 sequence with B2 sequence, reading frame preserved [288]
Slc27a4 wrfr 2445864 (129X1/SvJ x 129S1/Sv)F1 B2, exon 3, − Coding sequence disruption, no mRNA or protein detected [289]
Tnf Bpsm1 5795894 C57BL/6 B2, 3’UTR, + Premature polyadenylation leads to shortened 3’UTR and gene overexpression [172]
  1. aID number in Mouse Genome Informatics (MGI) database
  2. b- = antisense, + = sense,? = orientation unknown