Mutagenetix > Incidental Mutation

Incidental Mutation 'R4591:Abca15'

342828

Institutional Source

Beutler Lab

Gene Symbol

Abca15

Ensembl Gene

ENSMUSG00000054746

Gene Name

ATP-binding cassette, sub-family A member 15

Synonyms

4930500I12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4591 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119927893-120006910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119981636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1030 (D1030V)

Ref Sequence

ENSEMBL: ENSMUSP00000112821 (fasta)

Gene Model

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

AlphaFold

E9PWH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000076272
AA Change: D1030V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746
AA Change: D1030V

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 damaging
Transcript: ENSMUST00000121265
AA Change: D1030V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746
AA Change: D1030V

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,599 (GRCm39)	S187P	possibly damaging	Het
4932438H23Rik	T	C	16: 90,852,959 (GRCm39)	N59S	probably damaging	Het
Acmsd	A	T	1: 127,676,934 (GRCm39)	N153I	probably damaging	Het
Adprh	C	A	16: 38,266,345 (GRCm39)	V266L	probably benign	Het
Aldh5a1	G	A	13: 25,107,991 (GRCm39)	P217S	probably damaging	Het
Alpk2	A	T	18: 65,438,894 (GRCm39)	L1300Q	probably benign	Het
Alyref	C	T	11: 120,486,799 (GRCm39)	R154Q	probably benign	Het
Ano6	T	A	15: 95,841,308 (GRCm39)	C468*	probably null	Het
Aox3	A	T	1: 58,191,815 (GRCm39)	I456F	probably damaging	Het
Art4	A	G	6: 136,831,755 (GRCm39)	Y129H	probably damaging	Het
Asb16	C	A	11: 102,167,551 (GRCm39)	H306N	probably damaging	Het
Atp8a2	C	A	14: 59,892,078 (GRCm39)	R1090L	probably benign	Het
Brap	G	T	5: 121,800,113 (GRCm39)	V1F	probably null	Het
C1qb	C	A	4: 136,609,528 (GRCm39)	G31W	probably damaging	Het
Cacna2d4	T	C	6: 119,275,425 (GRCm39)	Y666H	probably benign	Het
Casr	T	C	16: 36,320,732 (GRCm39)	N472S	probably benign	Het
Ccdc91	T	G	6: 147,491,963 (GRCm39)	S282A	unknown	Het
Cd300lg	A	G	11: 101,937,006 (GRCm39)	T164A	probably benign	Het
Cd79b	A	T	11: 106,202,872 (GRCm39)	D243E	probably damaging	Het
Cdh6	C	A	15: 13,051,572 (GRCm39)	V354F	possibly damaging	Het
Cdhr2	A	G	13: 54,863,497 (GRCm39)	N126S	probably benign	Het
Cep192	A	T	18: 67,968,039 (GRCm39)	N841I	probably damaging	Het
Cngb1	T	C	8: 95,980,012 (GRCm39)	T963A	probably damaging	Het
Col16a1	A	G	4: 129,955,592 (GRCm39)		probably null	Het
Coro1a	A	G	7: 126,302,164 (GRCm39)	V61A	probably damaging	Het
Crocc	T	A	4: 140,745,983 (GRCm39)	D1712V	probably damaging	Het
Ddn	T	C	15: 98,705,687 (GRCm39)	D3G	possibly damaging	Het
Dnal1	T	C	12: 84,180,627 (GRCm39)	F89S	probably benign	Het
Dusp3	T	A	11: 101,864,446 (GRCm39)		probably benign	Het
Dyrk3	C	A	1: 131,057,895 (GRCm39)	G58C	probably damaging	Het
Fat1	T	C	8: 45,479,279 (GRCm39)	F2775S	probably benign	Het
Frk	A	G	10: 34,481,829 (GRCm39)	N373S	probably benign	Het
Glmn	A	G	5: 107,708,917 (GRCm39)		probably null	Het
Gm11565	A	T	11: 99,805,769 (GRCm39)	T54S	possibly damaging	Het
Gm14410	A	G	2: 176,885,820 (GRCm39)	I148T	possibly damaging	Het
Gm21834	T	A	17: 58,048,880 (GRCm39)	H112L	possibly damaging	Het
Gm5862	A	G	5: 26,224,486 (GRCm39)	I161T	possibly damaging	Het
Grid2	G	T	6: 64,297,086 (GRCm39)	G483V	probably damaging	Het
Hfm1	A	T	5: 106,995,533 (GRCm39)	S1293T	probably benign	Het
Il1a	G	A	2: 129,148,447 (GRCm39)	R88W	probably damaging	Het
Il20rb	A	T	9: 100,357,043 (GRCm39)	V29D	possibly damaging	Het
Ilvbl	C	T	10: 78,419,139 (GRCm39)	L463F	probably benign	Het
Kif17	A	G	4: 138,005,110 (GRCm39)	E225G	probably benign	Het
Lrp2	A	G	2: 69,366,419 (GRCm39)	F227L	probably damaging	Het
Lrrc43	A	G	5: 123,639,227 (GRCm39)	M419V	probably benign	Het
Magel2	A	G	7: 62,030,837 (GRCm39)	Q1247R	unknown	Het
Mamdc4	T	A	2: 25,454,609 (GRCm39)	M1068L	possibly damaging	Het
Mdn1	T	G	4: 32,707,636 (GRCm39)	S1642A	probably damaging	Het
Mtarc1	T	C	1: 184,539,365 (GRCm39)	E102G	probably benign	Het
Mtcl1	T	C	17: 66,655,506 (GRCm39)	E819G	probably benign	Het
Naa15	T	C	3: 51,349,345 (GRCm39)	L38P	probably damaging	Het
Nlrp3	A	G	11: 59,440,048 (GRCm39)	R542G	probably benign	Het
Or10c1	C	T	17: 37,522,010 (GRCm39)	V245I	probably benign	Het
Or4d2b	A	G	11: 87,780,375 (GRCm39)	S116P	probably benign	Het
Or5ac19	A	C	16: 59,089,776 (GRCm39)	F85V	possibly damaging	Het
Or5b125-ps1	ACAC	ACACGCAC	19: 13,056,266 (GRCm39)		noncoding transcript	Het
Pbxip1	T	A	3: 89,353,467 (GRCm39)	L249Q	probably benign	Het
Pla2g7	T	C	17: 43,911,450 (GRCm39)	S201P	probably damaging	Het
Psmd1	G	T	1: 86,055,926 (GRCm39)	V763F	probably benign	Het
Ptp4a2	A	G	4: 129,740,308 (GRCm39)	E124G	probably benign	Het
Rab6b	T	C	9: 103,044,373 (GRCm39)		probably null	Het
Rbks	T	A	5: 31,817,352 (GRCm39)	K139M	possibly damaging	Het
Rgs22	T	A	15: 36,100,282 (GRCm39)	E268D	probably benign	Het
Slc16a9	T	G	10: 70,118,710 (GRCm39)	L343R	probably damaging	Het
Smagp	T	C	15: 100,519,860 (GRCm39)	I55V	probably damaging	Het
Sox13	T	C	1: 133,311,421 (GRCm39)	S604G	probably damaging	Het
St6gal1	G	T	16: 23,140,044 (GRCm39)	V72F	probably benign	Het
Stxbp4	A	G	11: 90,485,606 (GRCm39)	V247A	probably benign	Het
Susd3	A	T	13: 49,384,736 (GRCm39)	M217K	possibly damaging	Het
Tas2r129	T	A	6: 132,928,574 (GRCm39)	N170K	probably benign	Het
Tmem245	C	A	4: 56,910,204 (GRCm39)	A515S	probably damaging	Het
Tpte	T	C	8: 22,817,791 (GRCm39)	V259A	probably benign	Het
Trpa1	T	C	1: 14,952,332 (GRCm39)		probably null	Het
Ttc28	G	A	5: 111,371,147 (GRCm39)	R532H	probably damaging	Het
Vwa5a	A	T	9: 38,646,916 (GRCm39)	N529I	possibly damaging	Het
Zfp574	T	C	7: 24,778,969 (GRCm39)		probably benign	Het

Other mutations in Abca15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Abca15	APN	7	119,996,277 (GRCm39)	missense	probably damaging	1.00
IGL00505:Abca15	APN	7	119,968,459 (GRCm39)	critical splice donor site	probably null
IGL00851:Abca15	APN	7	119,939,230 (GRCm39)	missense	probably damaging	1.00
IGL00985:Abca15	APN	7	119,996,241 (GRCm39)	missense	probably damaging	1.00
IGL01114:Abca15	APN	7	119,960,643 (GRCm39)	missense	probably damaging	0.99
IGL01287:Abca15	APN	7	119,932,081 (GRCm39)	utr 3 prime	probably benign
IGL01333:Abca15	APN	7	119,981,531 (GRCm39)	missense	probably damaging	1.00
IGL01482:Abca15	APN	7	119,981,969 (GRCm39)	missense	probably benign	0.00
IGL01610:Abca15	APN	7	119,939,867 (GRCm39)	missense	probably damaging	0.98
IGL02238:Abca15	APN	7	119,995,829 (GRCm39)	missense	probably benign	0.02
IGL02377:Abca15	APN	7	119,965,133 (GRCm39)	splice site	probably benign
IGL02666:Abca15	APN	7	119,934,431 (GRCm39)	missense	probably damaging	1.00
IGL02836:Abca15	APN	7	119,987,439 (GRCm39)	missense	probably benign
IGL03337:Abca15	APN	7	119,995,930 (GRCm39)	missense	probably benign	0.24
IGL03354:Abca15	APN	7	119,993,711 (GRCm39)	nonsense	probably null
H8562:Abca15	UTSW	7	119,974,077 (GRCm39)	splice site	probably benign
IGL03098:Abca15	UTSW	7	119,987,499 (GRCm39)	splice site	probably null
R0029:Abca15	UTSW	7	119,945,225 (GRCm39)	missense	probably benign	0.01
R0029:Abca15	UTSW	7	119,945,225 (GRCm39)	missense	probably benign	0.01
R0076:Abca15	UTSW	7	119,972,908 (GRCm39)	splice site	probably benign
R0165:Abca15	UTSW	7	119,950,126 (GRCm39)	splice site	probably benign
R0311:Abca15	UTSW	7	120,002,127 (GRCm39)	missense	probably damaging	0.98
R0387:Abca15	UTSW	7	119,932,075 (GRCm39)	critical splice donor site	probably null
R0610:Abca15	UTSW	7	119,965,009 (GRCm39)	missense	possibly damaging	0.75
R0612:Abca15	UTSW	7	119,936,478 (GRCm39)	missense	probably damaging	1.00
R0704:Abca15	UTSW	7	119,953,746 (GRCm39)	missense	probably damaging	0.98
R0890:Abca15	UTSW	7	119,972,936 (GRCm39)	missense	probably benign	0.01
R0961:Abca15	UTSW	7	119,960,208 (GRCm39)	nonsense	probably null
R1144:Abca15	UTSW	7	119,960,083 (GRCm39)	splice site	probably benign
R1412:Abca15	UTSW	7	119,944,546 (GRCm39)	missense	possibly damaging	0.93
R1419:Abca15	UTSW	7	119,974,125 (GRCm39)	missense	probably benign	0.10
R1467:Abca15	UTSW	7	119,939,761 (GRCm39)	splice site	probably null
R1467:Abca15	UTSW	7	119,939,761 (GRCm39)	splice site	probably null
R1469:Abca15	UTSW	7	119,981,720 (GRCm39)	missense	probably benign	0.00
R1469:Abca15	UTSW	7	119,981,720 (GRCm39)	missense	probably benign	0.00
R1493:Abca15	UTSW	7	119,981,513 (GRCm39)	missense	probably benign	0.00
R1513:Abca15	UTSW	7	119,939,322 (GRCm39)	missense	probably damaging	0.96
R1702:Abca15	UTSW	7	119,981,925 (GRCm39)	missense	probably benign	0.10
R1857:Abca15	UTSW	7	119,960,592 (GRCm39)	missense	probably damaging	1.00
R1893:Abca15	UTSW	7	119,939,776 (GRCm39)	missense	possibly damaging	0.85
R1901:Abca15	UTSW	7	119,945,322 (GRCm39)	missense	probably damaging	1.00
R1951:Abca15	UTSW	7	119,960,655 (GRCm39)	missense	probably damaging	1.00
R1953:Abca15	UTSW	7	119,960,655 (GRCm39)	missense	probably damaging	1.00
R1962:Abca15	UTSW	7	119,940,468 (GRCm39)	missense	probably damaging	1.00
R2063:Abca15	UTSW	7	119,960,127 (GRCm39)	missense	possibly damaging	0.61
R2141:Abca15	UTSW	7	120,006,697 (GRCm39)	missense	probably damaging	1.00
R2145:Abca15	UTSW	7	119,953,701 (GRCm39)	missense	probably benign	0.08
R2182:Abca15	UTSW	7	119,939,450 (GRCm39)	nonsense	probably null
R2425:Abca15	UTSW	7	119,959,033 (GRCm39)	missense	probably damaging	1.00
R2444:Abca15	UTSW	7	119,965,120 (GRCm39)	missense	probably damaging	1.00
R3023:Abca15	UTSW	7	119,982,002 (GRCm39)	missense	probably benign	0.40
R3079:Abca15	UTSW	7	119,984,392 (GRCm39)	missense	probably damaging	1.00
R3106:Abca15	UTSW	7	119,995,856 (GRCm39)	missense	possibly damaging	0.63
R3622:Abca15	UTSW	7	119,950,036 (GRCm39)	nonsense	probably null
R4085:Abca15	UTSW	7	119,981,949 (GRCm39)	missense	probably damaging	1.00
R4233:Abca15	UTSW	7	120,002,202 (GRCm39)	nonsense	probably null
R4612:Abca15	UTSW	7	119,934,384 (GRCm39)	missense	probably benign	0.03
R4721:Abca15	UTSW	7	119,949,998 (GRCm39)	missense	probably benign	0.01
R4838:Abca15	UTSW	7	119,944,523 (GRCm39)	missense	probably benign	0.00
R4940:Abca15	UTSW	7	119,931,917 (GRCm39)	missense	probably benign
R4963:Abca15	UTSW	7	119,960,142 (GRCm39)	missense	probably damaging	1.00
R4993:Abca15	UTSW	7	120,000,941 (GRCm39)	missense	probably damaging	0.99
R5022:Abca15	UTSW	7	119,945,319 (GRCm39)	missense	probably damaging	0.98
R5030:Abca15	UTSW	7	119,939,224 (GRCm39)	missense	probably damaging	1.00
R5072:Abca15	UTSW	7	120,006,198 (GRCm39)	missense	probably damaging	1.00
R5090:Abca15	UTSW	7	119,984,422 (GRCm39)	missense	probably damaging	1.00
R5309:Abca15	UTSW	7	119,944,592 (GRCm39)	missense	probably damaging	0.96
R5310:Abca15	UTSW	7	119,931,839 (GRCm39)	missense	possibly damaging	0.46
R5312:Abca15	UTSW	7	119,944,592 (GRCm39)	missense	probably damaging	0.96
R5482:Abca15	UTSW	7	119,968,370 (GRCm39)	missense	probably damaging	1.00
R5596:Abca15	UTSW	7	120,000,972 (GRCm39)	missense	possibly damaging	0.94
R5853:Abca15	UTSW	7	119,939,806 (GRCm39)	missense	probably benign	0.00
R5950:Abca15	UTSW	7	119,981,879 (GRCm39)	missense	probably damaging	1.00
R5953:Abca15	UTSW	7	119,960,241 (GRCm39)	missense	probably damaging	1.00
R6072:Abca15	UTSW	7	119,987,481 (GRCm39)	missense	probably damaging	0.98
R6131:Abca15	UTSW	7	119,939,428 (GRCm39)	missense	probably benign	0.03
R6132:Abca15	UTSW	7	119,960,643 (GRCm39)	missense	probably benign	0.14
R6136:Abca15	UTSW	7	119,939,272 (GRCm39)	missense	possibly damaging	0.81
R6207:Abca15	UTSW	7	119,973,017 (GRCm39)	missense	probably benign	0.01
R6315:Abca15	UTSW	7	119,945,315 (GRCm39)	missense	probably damaging	1.00
R6417:Abca15	UTSW	7	119,996,351 (GRCm39)	missense	possibly damaging	0.95
R6420:Abca15	UTSW	7	119,996,351 (GRCm39)	missense	possibly damaging	0.95
R6595:Abca15	UTSW	7	119,993,710 (GRCm39)	missense	probably benign	0.00
R6653:Abca15	UTSW	7	119,945,229 (GRCm39)	missense	probably benign	0.03
R6859:Abca15	UTSW	7	120,002,217 (GRCm39)	nonsense	probably null
R6983:Abca15	UTSW	7	119,953,686 (GRCm39)	missense	probably benign	0.26
R7127:Abca15	UTSW	7	119,931,825 (GRCm39)	missense	probably benign	0.06
R7205:Abca15	UTSW	7	119,993,587 (GRCm39)	missense	possibly damaging	0.89
R7336:Abca15	UTSW	7	119,987,456 (GRCm39)	missense	possibly damaging	0.66
R7426:Abca15	UTSW	7	119,945,221 (GRCm39)	missense	possibly damaging	0.88
R7745:Abca15	UTSW	7	119,931,440 (GRCm39)	missense	probably damaging	1.00
R7751:Abca15	UTSW	7	119,965,044 (GRCm39)	missense	possibly damaging	0.72
R7806:Abca15	UTSW	7	119,932,059 (GRCm39)	missense	probably damaging	0.96
R8042:Abca15	UTSW	7	120,002,233 (GRCm39)	missense	possibly damaging	0.95
R8098:Abca15	UTSW	7	119,960,619 (GRCm39)	missense	probably benign	0.09
R8153:Abca15	UTSW	7	119,999,812 (GRCm39)	missense	probably damaging	1.00
R8247:Abca15	UTSW	7	119,936,445 (GRCm39)	missense	possibly damaging	0.83
R8259:Abca15	UTSW	7	119,939,422 (GRCm39)	missense	probably benign	0.00
R8272:Abca15	UTSW	7	120,006,665 (GRCm39)	missense	probably damaging	1.00
R8295:Abca15	UTSW	7	119,974,188 (GRCm39)	missense	probably benign	0.00
R8757:Abca15	UTSW	7	120,006,631 (GRCm39)	missense	probably damaging	0.96
R8759:Abca15	UTSW	7	120,006,631 (GRCm39)	missense	probably damaging	0.96
R8905:Abca15	UTSW	7	119,960,771 (GRCm39)	missense	probably benign	0.28
R9145:Abca15	UTSW	7	119,987,388 (GRCm39)	missense	probably benign	0.13
R9217:Abca15	UTSW	7	119,987,439 (GRCm39)	missense	probably benign
R9264:Abca15	UTSW	7	120,001,056 (GRCm39)	missense	probably benign	0.14
R9517:Abca15	UTSW	7	119,987,424 (GRCm39)	missense	probably benign	0.07
RF018:Abca15	UTSW	7	119,993,683 (GRCm39)	missense	possibly damaging	0.50
Z1176:Abca15	UTSW	7	119,981,728 (GRCm39)	missense	probably damaging	0.99
Z1176:Abca15	UTSW	7	119,945,249 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- TGTCGTGAGCAGCATGTTAG -3'
(R):5'- GCCCAGCTGAATTTTGAAGG -3'

Sequencing Primer
(F):5'- CGTGAGCAGCATGTTAGATTTAC -3'
(R):5'- GAAGGCTACAATCTTCCCATCTG -3'

Posted On

2015-09-24