Mutagenetix > Incidental Mutation

Incidental Mutation 'R1144:Abca15'

102274

Institutional Source

Beutler Lab

Gene Symbol

Abca15

Ensembl Gene

ENSMUSG00000054746

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 15

Synonyms

4930500I12Rik

MMRRC Submission

039217-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1144 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120328670-120407687 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 120360860 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076272] [ENSMUST00000121265]

AlphaFold

E9PWH4

Predicted Effect

probably benign
Transcript: ENSMUST00000076272

SMART Domains

Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	24	464	5.7e-21	PFAM
AAA	550	732	9.14e-11	SMART
Pfam:ABC2_membrane_3	892	1293	7.9e-24	PFAM
AAA	1381	1565	1.16e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121265

SMART Domains

Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	24	464	2.1e-21	PFAM
AAA	550	732	9.14e-11	SMART
Pfam:ABC2_membrane_3	907	1293	1e-25	PFAM
AAA	1381	1565	1.16e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140459

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,422,438 (GRCm38)		probably benign	Het
Acsl5	A	C	19: 55,291,843 (GRCm38)	D516A	probably damaging	Het
Adcy1	G	A	11: 7,137,400 (GRCm38)	A425T	probably damaging	Het
Aebp1	A	G	11: 5,868,475 (GRCm38)	T107A	probably benign	Het
Arhgef33	T	C	17: 80,355,044 (GRCm38)	S219P	probably benign	Het
Atm	T	G	9: 53,511,698 (GRCm38)		probably benign	Het
C1ql2	A	C	1: 120,342,537 (GRCm38)	Y276S	probably damaging	Het
Cacna2d1	T	C	5: 16,322,597 (GRCm38)		probably null	Het
Cmbl	A	G	15: 31,581,874 (GRCm38)	N6D	probably benign	Het
Cntn3	A	G	6: 102,242,126 (GRCm38)	V511A	possibly damaging	Het
Coq9	C	A	8: 94,842,623 (GRCm38)	R28S	probably benign	Het
Creld1	T	C	6: 113,483,961 (GRCm38)	F20S	probably benign	Het
Dcstamp	A	G	15: 39,760,368 (GRCm38)	K404E	possibly damaging	Het
Dip2b	T	A	15: 100,154,250 (GRCm38)	I244K	probably benign	Het
Dnhd1	G	A	7: 105,713,031 (GRCm38)	E3700K	probably damaging	Het
Dnmt3l	T	A	10: 78,051,905 (GRCm38)	C110S	probably damaging	Het
Fabp3	C	T	4: 130,312,387 (GRCm38)	T57I	probably benign	Het
Fgfr1	T	G	8: 25,558,143 (GRCm38)	V172G	probably damaging	Het
Frem3	C	A	8: 80,611,884 (GRCm38)	Q269K	probably benign	Het
Frmd6	C	A	12: 70,877,168 (GRCm38)	H67N	probably damaging	Het
Fry	A	G	5: 150,418,464 (GRCm38)	T1532A	possibly damaging	Het
Git2	G	T	5: 114,753,314 (GRCm38)	S243R	probably benign	Het
Grid1	A	G	14: 35,562,676 (GRCm38)		probably benign	Het
Grp	A	G	18: 65,879,970 (GRCm38)	D69G	probably damaging	Het
Hmbox1	A	T	14: 64,825,683 (GRCm38)	L347Q	probably damaging	Het
Hsh2d	C	T	8: 72,193,592 (GRCm38)		probably benign	Het
Itpr3	G	A	17: 27,114,923 (GRCm38)	S2018N	probably benign	Het
Kif13b	T	A	14: 64,714,117 (GRCm38)	V69D	probably benign	Het
Kirrel1	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Lmcd1	T	A	6: 112,310,751 (GRCm38)		probably benign	Het
Megf9	C	A	4: 70,534,624 (GRCm38)	A67S	probably benign	Het
Myo5b	G	A	18: 74,625,587 (GRCm38)	R213H	probably damaging	Het
Myo5c	T	A	9: 75,286,448 (GRCm38)	Y1162N	probably damaging	Het
Nphs1	A	G	7: 30,481,678 (GRCm38)		probably benign	Het
Ntrk1	G	A	3: 87,781,542 (GRCm38)	T568I	probably damaging	Het
Pcmtd1	A	G	1: 7,120,481 (GRCm38)	H58R	probably damaging	Het
Plaat5	A	G	19: 7,613,330 (GRCm38)	D74G	probably benign	Het
Plxna4	A	T	6: 32,197,156 (GRCm38)	I1168N	possibly damaging	Het
Ppm1h	A	G	10: 122,941,278 (GRCm38)	D483G	probably benign	Het
Prdm15	G	A	16: 97,808,708 (GRCm38)	R579C	probably damaging	Het
Prickle1	T	A	15: 93,512,461 (GRCm38)	R41W	probably damaging	Het
Rbm19	A	G	5: 120,123,016 (GRCm38)	D235G	possibly damaging	Het
Smco2	A	G	6: 146,871,140 (GRCm38)		probably benign	Het
Sned1	G	C	1: 93,280,576 (GRCm38)	G785R	probably damaging	Het
Stat4	A	G	1: 52,084,129 (GRCm38)		probably benign	Het
Syne2	T	A	12: 75,966,524 (GRCm38)	F2830I	probably benign	Het
Tbc1d9	A	G	8: 83,236,571 (GRCm38)	D304G	possibly damaging	Het
Thsd7a	G	A	6: 12,471,027 (GRCm38)		probably benign	Het
Tmem63b	T	A	17: 45,666,427 (GRCm38)	K383N	probably benign	Het
Trp53rka	C	A	2: 165,493,041 (GRCm38)		probably benign	Het
Trub1	G	A	19: 57,485,131 (GRCm38)	V207M	probably benign	Het
Ulk2	A	T	11: 61,800,060 (GRCm38)	C551S	possibly damaging	Het
Urb1	A	T	16: 90,776,318 (GRCm38)		probably null	Het
Vmn1r219	C	A	13: 23,163,213 (GRCm38)	Q191K	probably damaging	Het
Vmn2r1	A	T	3: 64,090,120 (GRCm38)	D399V	probably damaging	Het
Vmn2r87	A	G	10: 130,476,229 (GRCm38)		probably benign	Het
Wars1	A	T	12: 108,888,365 (GRCm38)	L41*	probably null	Het
Washc2	G	A	6: 116,224,534 (GRCm38)	E64K	probably damaging	Het
Washc4	G	A	10: 83,580,330 (GRCm38)	R828Q	probably damaging	Het
Wdr59	A	T	8: 111,486,944 (GRCm38)	M313K	probably benign	Het
Wscd2	G	A	5: 113,561,090 (GRCm38)		probably null	Het
Zdhhc20	A	C	14: 57,856,678 (GRCm38)	L176V	probably benign	Het

Other mutations in Abca15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Abca15	APN	7	120,397,054 (GRCm38)	missense	probably damaging	1.00
IGL00505:Abca15	APN	7	120,369,236 (GRCm38)	critical splice donor site	probably null
IGL00851:Abca15	APN	7	120,340,007 (GRCm38)	missense	probably damaging	1.00
IGL00985:Abca15	APN	7	120,397,018 (GRCm38)	missense	probably damaging	1.00
IGL01114:Abca15	APN	7	120,361,420 (GRCm38)	missense	probably damaging	0.99
IGL01287:Abca15	APN	7	120,332,858 (GRCm38)	utr 3 prime	probably benign
IGL01333:Abca15	APN	7	120,382,308 (GRCm38)	missense	probably damaging	1.00
IGL01482:Abca15	APN	7	120,382,746 (GRCm38)	missense	probably benign	0.00
IGL01610:Abca15	APN	7	120,340,644 (GRCm38)	missense	probably damaging	0.98
IGL02238:Abca15	APN	7	120,396,606 (GRCm38)	missense	probably benign	0.02
IGL02377:Abca15	APN	7	120,365,910 (GRCm38)	splice site	probably benign
IGL02666:Abca15	APN	7	120,335,208 (GRCm38)	missense	probably damaging	1.00
IGL02836:Abca15	APN	7	120,388,216 (GRCm38)	missense	probably benign
IGL03337:Abca15	APN	7	120,396,707 (GRCm38)	missense	probably benign	0.24
IGL03354:Abca15	APN	7	120,394,488 (GRCm38)	nonsense	probably null
H8562:Abca15	UTSW	7	120,374,854 (GRCm38)	splice site	probably benign
IGL03098:Abca15	UTSW	7	120,388,276 (GRCm38)	splice site	probably null
R0029:Abca15	UTSW	7	120,346,002 (GRCm38)	missense	probably benign	0.01
R0029:Abca15	UTSW	7	120,346,002 (GRCm38)	missense	probably benign	0.01
R0076:Abca15	UTSW	7	120,373,685 (GRCm38)	splice site	probably benign
R0165:Abca15	UTSW	7	120,350,903 (GRCm38)	splice site	probably benign
R0311:Abca15	UTSW	7	120,402,904 (GRCm38)	missense	probably damaging	0.98
R0387:Abca15	UTSW	7	120,332,852 (GRCm38)	critical splice donor site	probably null
R0610:Abca15	UTSW	7	120,365,786 (GRCm38)	missense	possibly damaging	0.75
R0612:Abca15	UTSW	7	120,337,255 (GRCm38)	missense	probably damaging	1.00
R0704:Abca15	UTSW	7	120,354,523 (GRCm38)	missense	probably damaging	0.98
R0890:Abca15	UTSW	7	120,373,713 (GRCm38)	missense	probably benign	0.01
R0961:Abca15	UTSW	7	120,360,985 (GRCm38)	nonsense	probably null
R1412:Abca15	UTSW	7	120,345,323 (GRCm38)	missense	possibly damaging	0.93
R1419:Abca15	UTSW	7	120,374,902 (GRCm38)	missense	probably benign	0.10
R1467:Abca15	UTSW	7	120,340,538 (GRCm38)	splice site	probably null
R1467:Abca15	UTSW	7	120,340,538 (GRCm38)	splice site	probably null
R1469:Abca15	UTSW	7	120,382,497 (GRCm38)	missense	probably benign	0.00
R1469:Abca15	UTSW	7	120,382,497 (GRCm38)	missense	probably benign	0.00
R1493:Abca15	UTSW	7	120,382,290 (GRCm38)	missense	probably benign	0.00
R1513:Abca15	UTSW	7	120,340,099 (GRCm38)	missense	probably damaging	0.96
R1702:Abca15	UTSW	7	120,382,702 (GRCm38)	missense	probably benign	0.10
R1857:Abca15	UTSW	7	120,361,369 (GRCm38)	missense	probably damaging	1.00
R1893:Abca15	UTSW	7	120,340,553 (GRCm38)	missense	possibly damaging	0.85
R1901:Abca15	UTSW	7	120,346,099 (GRCm38)	missense	probably damaging	1.00
R1951:Abca15	UTSW	7	120,361,432 (GRCm38)	missense	probably damaging	1.00
R1953:Abca15	UTSW	7	120,361,432 (GRCm38)	missense	probably damaging	1.00
R1962:Abca15	UTSW	7	120,341,245 (GRCm38)	missense	probably damaging	1.00
R2063:Abca15	UTSW	7	120,360,904 (GRCm38)	missense	possibly damaging	0.61
R2141:Abca15	UTSW	7	120,407,474 (GRCm38)	missense	probably damaging	1.00
R2145:Abca15	UTSW	7	120,354,478 (GRCm38)	missense	probably benign	0.08
R2182:Abca15	UTSW	7	120,340,227 (GRCm38)	nonsense	probably null
R2425:Abca15	UTSW	7	120,359,810 (GRCm38)	missense	probably damaging	1.00
R2444:Abca15	UTSW	7	120,365,897 (GRCm38)	missense	probably damaging	1.00
R3023:Abca15	UTSW	7	120,382,779 (GRCm38)	missense	probably benign	0.40
R3079:Abca15	UTSW	7	120,385,169 (GRCm38)	missense	probably damaging	1.00
R3106:Abca15	UTSW	7	120,396,633 (GRCm38)	missense	possibly damaging	0.63
R3622:Abca15	UTSW	7	120,350,813 (GRCm38)	nonsense	probably null
R4085:Abca15	UTSW	7	120,382,726 (GRCm38)	missense	probably damaging	1.00
R4233:Abca15	UTSW	7	120,402,979 (GRCm38)	nonsense	probably null
R4591:Abca15	UTSW	7	120,382,413 (GRCm38)	missense	probably damaging	1.00
R4612:Abca15	UTSW	7	120,335,161 (GRCm38)	missense	probably benign	0.03
R4721:Abca15	UTSW	7	120,350,775 (GRCm38)	missense	probably benign	0.01
R4838:Abca15	UTSW	7	120,345,300 (GRCm38)	missense	probably benign	0.00
R4940:Abca15	UTSW	7	120,332,694 (GRCm38)	missense	probably benign
R4963:Abca15	UTSW	7	120,360,919 (GRCm38)	missense	probably damaging	1.00
R4993:Abca15	UTSW	7	120,401,718 (GRCm38)	missense	probably damaging	0.99
R5022:Abca15	UTSW	7	120,346,096 (GRCm38)	missense	probably damaging	0.98
R5030:Abca15	UTSW	7	120,340,001 (GRCm38)	missense	probably damaging	1.00
R5072:Abca15	UTSW	7	120,406,975 (GRCm38)	missense	probably damaging	1.00
R5090:Abca15	UTSW	7	120,385,199 (GRCm38)	missense	probably damaging	1.00
R5309:Abca15	UTSW	7	120,345,369 (GRCm38)	missense	probably damaging	0.96
R5310:Abca15	UTSW	7	120,332,616 (GRCm38)	missense	possibly damaging	0.46
R5312:Abca15	UTSW	7	120,345,369 (GRCm38)	missense	probably damaging	0.96
R5482:Abca15	UTSW	7	120,369,147 (GRCm38)	missense	probably damaging	1.00
R5596:Abca15	UTSW	7	120,401,749 (GRCm38)	missense	possibly damaging	0.94
R5853:Abca15	UTSW	7	120,340,583 (GRCm38)	missense	probably benign	0.00
R5950:Abca15	UTSW	7	120,382,656 (GRCm38)	missense	probably damaging	1.00
R5953:Abca15	UTSW	7	120,361,018 (GRCm38)	missense	probably damaging	1.00
R6072:Abca15	UTSW	7	120,388,258 (GRCm38)	missense	probably damaging	0.98
R6131:Abca15	UTSW	7	120,340,205 (GRCm38)	missense	probably benign	0.03
R6132:Abca15	UTSW	7	120,361,420 (GRCm38)	missense	probably benign	0.14
R6136:Abca15	UTSW	7	120,340,049 (GRCm38)	missense	possibly damaging	0.81
R6207:Abca15	UTSW	7	120,373,794 (GRCm38)	missense	probably benign	0.01
R6315:Abca15	UTSW	7	120,346,092 (GRCm38)	missense	probably damaging	1.00
R6417:Abca15	UTSW	7	120,397,128 (GRCm38)	missense	possibly damaging	0.95
R6420:Abca15	UTSW	7	120,397,128 (GRCm38)	missense	possibly damaging	0.95
R6595:Abca15	UTSW	7	120,394,487 (GRCm38)	missense	probably benign	0.00
R6653:Abca15	UTSW	7	120,346,006 (GRCm38)	missense	probably benign	0.03
R6859:Abca15	UTSW	7	120,402,994 (GRCm38)	nonsense	probably null
R6983:Abca15	UTSW	7	120,354,463 (GRCm38)	missense	probably benign	0.26
R7127:Abca15	UTSW	7	120,332,602 (GRCm38)	missense	probably benign	0.06
R7205:Abca15	UTSW	7	120,394,364 (GRCm38)	missense	possibly damaging	0.89
R7336:Abca15	UTSW	7	120,388,233 (GRCm38)	missense	possibly damaging	0.66
R7426:Abca15	UTSW	7	120,345,998 (GRCm38)	missense	possibly damaging	0.88
R7745:Abca15	UTSW	7	120,332,217 (GRCm38)	missense	probably damaging	1.00
R7751:Abca15	UTSW	7	120,365,821 (GRCm38)	missense	possibly damaging	0.72
R7806:Abca15	UTSW	7	120,332,836 (GRCm38)	missense	probably damaging	0.96
R8042:Abca15	UTSW	7	120,403,010 (GRCm38)	missense	possibly damaging	0.95
R8098:Abca15	UTSW	7	120,361,396 (GRCm38)	missense	probably benign	0.09
R8153:Abca15	UTSW	7	120,400,589 (GRCm38)	missense	probably damaging	1.00
R8247:Abca15	UTSW	7	120,337,222 (GRCm38)	missense	possibly damaging	0.83
R8259:Abca15	UTSW	7	120,340,199 (GRCm38)	missense	probably benign	0.00
R8272:Abca15	UTSW	7	120,407,442 (GRCm38)	missense	probably damaging	1.00
R8295:Abca15	UTSW	7	120,374,965 (GRCm38)	missense	probably benign	0.00
R8757:Abca15	UTSW	7	120,407,408 (GRCm38)	missense	probably damaging	0.96
R8759:Abca15	UTSW	7	120,407,408 (GRCm38)	missense	probably damaging	0.96
R8905:Abca15	UTSW	7	120,361,548 (GRCm38)	missense	probably benign	0.28
R9145:Abca15	UTSW	7	120,388,165 (GRCm38)	missense	probably benign	0.13
R9217:Abca15	UTSW	7	120,388,216 (GRCm38)	missense	probably benign
R9264:Abca15	UTSW	7	120,401,833 (GRCm38)	missense	probably benign	0.14
R9517:Abca15	UTSW	7	120,388,201 (GRCm38)	missense	probably benign	0.07
RF018:Abca15	UTSW	7	120,394,460 (GRCm38)	missense	possibly damaging	0.50
Z1176:Abca15	UTSW	7	120,382,505 (GRCm38)	missense	probably damaging	0.99
Z1176:Abca15	UTSW	7	120,346,026 (GRCm38)	missense	probably benign	0.22

Predicted Primers

Posted On

2014-01-15