. 2019 Apr 13;10:15. doi: 10.1186/s13100-019-0157-4

Table 1.

IAP insertions

^aMutation	MGI ID^b	Strain of origin	Year mutation arose	Location & Orientation^c	Mutational mechanism(s) or effects	References
^a A ^hvy	1855945	C3H/HeJ	~ 1994	Exon 1C,-^c	IAP forms 5′-end of transcript^d, Regulation by methylation	[181]
^a A ^iapy	1856403	C57BL/6J xC3H male	1992	Intron, −	IAP forms 5′-end of transcript^d, Regulation by methylation	[182]
A ^iy	1855933	C3H/HeJ	1964	Intron 1, −	IAP forms 5′-end of transcript^d, transcript contains internal IAP sequence	[183]
^a A ^vy	1855930	C3H/HeJ	1960	Exon 1A, −	IAP forms 5′-end of transcript^d, 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-Tyr^c-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 transcript^d, 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 transcript^d, 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-Il2^tm1Hor	~ 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-Rab27a^ash/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]

^aVariable phenotype or expression (metastable epiallele)

^bID number in Mouse Genome Informatics (MGI) database, “N” indicates not present in MGI

^c- = antisense, + = sense,? = orientation unknown

^dEctopic expression of IAP-driven transcript