Table 6.
SINEs and other L1-mediated 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] |
aID number in Mouse Genome Informatics (MGI) database
b- = antisense, + = sense,? = orientation unknown