Mutagenetix > Incidental Mutation

Incidental Mutation 'R4571:Abca8a'

342154

Institutional Source

Beutler Lab

Gene Symbol

Abca8a

Ensembl Gene

ENSMUSG00000041828

Gene Name

ATP-binding cassette, sub-family A member 8a

Synonyms

MMRRC Submission

041795-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109916460-109986804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109920884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1497 (C1497S)

Ref Sequence

ENSEMBL: ENSMUSP00000102275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046223] [ENSMUST00000100287] [ENSMUST00000106664]

AlphaFold

Q8K442

Predicted Effect

probably damaging
Transcript: ENSMUST00000046223
AA Change: C1496S

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

SMART Domains

Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: C1496S

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	27	416	8e-26	PFAM
AAA	505	689	6.27e-9	SMART
Pfam:ABC2_membrane_3	860	1174	6.8e-15	PFAM
transmembrane domain	1196	1218	N/A	INTRINSIC
low complexity region	1246	1255	N/A	INTRINSIC
low complexity region	1288	1301	N/A	INTRINSIC
AAA	1313	1493	4.3e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100287
AA Change: C1497S

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

SMART Domains

Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: C1497S

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	27	416	3.9e-26	PFAM
AAA	506	690	6.27e-9	SMART
Pfam:ABC2_membrane_3	861	1175	3.3e-15	PFAM
transmembrane domain	1197	1219	N/A	INTRINSIC
low complexity region	1247	1256	N/A	INTRINSIC
low complexity region	1289	1302	N/A	INTRINSIC
AAA	1314	1494	4.3e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106664
AA Change: C1497S

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

SMART Domains

Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: C1497S

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	28	416	1.7e-23	PFAM
AAA	506	690	6.27e-9	SMART
Pfam:ABC2_membrane_3	861	1214	1.3e-12	PFAM
low complexity region	1247	1256	N/A	INTRINSIC
low complexity region	1289	1302	N/A	INTRINSIC
AAA	1314	1494	4.3e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141279

Meta Mutation Damage Score

0.7738

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	G	T	2: 127,719,727 (GRCm39)	G163W	probably damaging	Het
Apbb1	T	A	7: 105,222,969 (GRCm39)	N214I	probably damaging	Het
Apol7b	T	C	15: 77,307,734 (GRCm39)	K254E	probably benign	Het
Arl4d	T	A	11: 101,557,969 (GRCm39)	V165E	possibly damaging	Het
Brca1	C	A	11: 101,408,192 (GRCm39)	R1377L	probably benign	Het
Btf3	A	G	13: 98,449,792 (GRCm39)	F65L	probably benign	Het
C2	T	C	17: 35,082,635 (GRCm39)	N495D	probably benign	Het
Cacna1c	T	C	6: 118,607,341 (GRCm39)	T1188A	probably benign	Het
Chd7	C	A	4: 8,866,217 (GRCm39)	D796E	probably benign	Het
Clasp2	G	T	9: 113,676,789 (GRCm39)	L173F	probably damaging	Het
Clec4g	A	T	8: 3,768,766 (GRCm39)		probably null	Het
Col9a3	T	C	2: 180,258,159 (GRCm39)		probably benign	Het
Csmd2	T	A	4: 128,373,888 (GRCm39)		probably null	Het
Ddx11	T	C	17: 66,437,768 (GRCm39)	C165R	probably benign	Het
Dnah7c	A	C	1: 46,572,376 (GRCm39)	M950L	probably damaging	Het
Dusp23	A	C	1: 172,460,181 (GRCm39)		probably null	Het
Ebag9	A	T	15: 44,500,158 (GRCm39)		probably null	Het
Edn3	G	A	2: 174,623,697 (GRCm39)	A211T	probably benign	Het
Eif3e	G	A	15: 43,129,558 (GRCm39)	T190I	possibly damaging	Het
Fam76a	T	C	4: 132,648,208 (GRCm39)	H3R	possibly damaging	Het
Gabbr1	G	T	17: 37,365,128 (GRCm39)	E138*	probably null	Het
Galc	T	C	12: 98,188,876 (GRCm39)	T412A	probably benign	Het
Gimap3	T	C	6: 48,742,654 (GRCm39)	D92G	possibly damaging	Het
Gin1	T	C	1: 97,712,801 (GRCm39)	Y285H	probably damaging	Het
Gm4868	A	G	5: 125,925,782 (GRCm39)		noncoding transcript	Het
Gm7052	T	A	17: 22,259,405 (GRCm39)		probably benign	Het
Gpcpd1	T	A	2: 132,392,270 (GRCm39)	E226D	probably benign	Het
Hoxb4	T	C	11: 96,209,992 (GRCm39)	S133P	possibly damaging	Het
Hrg	C	T	16: 22,779,972 (GRCm39)		probably benign	Het
Insrr	A	G	3: 87,708,194 (GRCm39)	K212R	probably benign	Het
Ipp	A	G	4: 116,387,655 (GRCm39)	D411G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnq3	A	G	15: 65,902,461 (GRCm39)	F172L	probably damaging	Het
Kdm5d	T	C	Y: 927,110 (GRCm39)	F616S	probably damaging	Het
Lars1	T	C	18: 42,361,295 (GRCm39)		probably null	Het
Lmo7	G	T	14: 102,125,030 (GRCm39)	Q496H	probably damaging	Het
Map3k9	C	A	12: 81,780,865 (GRCm39)	A432S	probably benign	Het
Nop2	T	G	6: 125,117,844 (GRCm39)		probably null	Het
Nup50l	T	A	6: 96,141,862 (GRCm39)	N394I	probably damaging	Het
Or10ag53	C	A	2: 87,082,802 (GRCm39)	Q174K	possibly damaging	Het
Or2h2	T	C	17: 37,396,471 (GRCm39)	I195M	probably damaging	Het
Or5m11b	A	T	2: 85,806,175 (GRCm39)	E196V	probably damaging	Het
Or6k2	A	T	1: 173,986,494 (GRCm39)	N52Y	possibly damaging	Het
Pan2	A	G	10: 128,144,512 (GRCm39)	T187A	probably benign	Het
Pcmtd2	A	G	2: 181,484,217 (GRCm39)	E9G	possibly damaging	Het
Pik3cb	T	A	9: 98,972,310 (GRCm39)	I283F	possibly damaging	Het
Pkhd1	G	A	1: 20,683,633 (GRCm39)	T40I	probably damaging	Het
Plxna2	T	C	1: 194,493,296 (GRCm39)	V1857A	possibly damaging	Het
Polg	T	C	7: 79,110,127 (GRCm39)	S334G	probably damaging	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,546,156 (GRCm39)		noncoding transcript	Het
Slc6a18	A	T	13: 73,814,489 (GRCm39)	N468K	possibly damaging	Het
Slco4a1	A	T	2: 180,106,171 (GRCm39)	T118S	probably benign	Het
Smg1	A	T	7: 117,738,688 (GRCm39)	N3520K	possibly damaging	Het
Tapbp	C	A	17: 34,145,427 (GRCm39)	D415E	probably damaging	Het
Topaz1	A	G	9: 122,576,501 (GRCm39)	T31A	probably benign	Het
Trpv6	C	T	6: 41,598,678 (GRCm39)	R649H	probably damaging	Het
Vmn1r188	A	G	13: 22,272,688 (GRCm39)	Y214C	probably benign	Het
Vps8	T	A	16: 21,254,525 (GRCm39)	I59N	probably damaging	Het
Wnt9a	T	C	11: 59,222,163 (GRCm39)	C354R	probably damaging	Het
Zcchc2	A	G	1: 105,958,987 (GRCm39)	T1153A	possibly damaging	Het
Zfp30	A	G	7: 29,492,627 (GRCm39)	R294G	probably damaging	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly damaging	Het
Zfp62	A	C	11: 49,106,568 (GRCm39)	S220R	probably damaging	Het
Zfp62	G	T	11: 49,106,569 (GRCm39)	S220I	probably damaging	Het
Zp3r	A	G	1: 130,505,757 (GRCm39)	S423P	probably damaging	Het

Other mutations in Abca8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Abca8a	APN	11	109,941,765 (GRCm39)	missense	possibly damaging	0.52
IGL01099:Abca8a	APN	11	109,965,031 (GRCm39)	splice site	probably benign
IGL01100:Abca8a	APN	11	109,949,249 (GRCm39)	critical splice donor site	probably null
IGL01310:Abca8a	APN	11	109,950,801 (GRCm39)	missense	probably benign	0.02
IGL01357:Abca8a	APN	11	109,922,398 (GRCm39)	missense	probably benign	0.05
IGL01554:Abca8a	APN	11	109,932,992 (GRCm39)	missense	probably benign	0.24
IGL01937:Abca8a	APN	11	109,974,130 (GRCm39)	splice site	probably benign
IGL01945:Abca8a	APN	11	109,974,130 (GRCm39)	splice site	probably benign
IGL01987:Abca8a	APN	11	109,964,981 (GRCm39)	missense	possibly damaging	0.63
IGL02023:Abca8a	APN	11	109,953,942 (GRCm39)	missense	probably benign	0.04
IGL02208:Abca8a	APN	11	109,950,772 (GRCm39)	missense	probably damaging	1.00
IGL02378:Abca8a	APN	11	109,969,641 (GRCm39)	unclassified	probably benign
IGL02380:Abca8a	APN	11	109,969,641 (GRCm39)	unclassified	probably benign
IGL02387:Abca8a	APN	11	109,969,641 (GRCm39)	unclassified	probably benign
IGL02388:Abca8a	APN	11	109,969,641 (GRCm39)	unclassified	probably benign
IGL02524:Abca8a	APN	11	109,969,641 (GRCm39)	unclassified	probably benign
IGL02551:Abca8a	APN	11	109,975,068 (GRCm39)	missense	probably benign	0.05
IGL02831:Abca8a	APN	11	109,943,907 (GRCm39)	missense	probably damaging	1.00
IGL02836:Abca8a	APN	11	109,961,177 (GRCm39)	missense	possibly damaging	0.89
IGL02934:Abca8a	APN	11	109,931,414 (GRCm39)	missense	probably damaging	1.00
IGL02946:Abca8a	APN	11	109,919,041 (GRCm39)	splice site	probably benign
IGL02967:Abca8a	APN	11	109,941,762 (GRCm39)	missense	probably damaging	1.00
IGL02997:Abca8a	APN	11	109,966,359 (GRCm39)	splice site	probably benign
IGL03265:Abca8a	APN	11	109,943,929 (GRCm39)	missense	probably benign	0.01
G5030:Abca8a	UTSW	11	109,961,165 (GRCm39)	missense	probably damaging	1.00
H8562:Abca8a	UTSW	11	109,933,835 (GRCm39)	missense	probably benign
PIT4445001:Abca8a	UTSW	11	109,966,377 (GRCm39)	missense	probably damaging	0.99
R0060:Abca8a	UTSW	11	109,961,306 (GRCm39)	missense	probably damaging	1.00
R0060:Abca8a	UTSW	11	109,961,306 (GRCm39)	missense	probably damaging	1.00
R0084:Abca8a	UTSW	11	109,927,423 (GRCm39)	splice site	probably benign
R0394:Abca8a	UTSW	11	109,917,169 (GRCm39)	missense	probably damaging	0.99
R0477:Abca8a	UTSW	11	109,956,051 (GRCm39)	missense	probably benign
R0593:Abca8a	UTSW	11	109,958,925 (GRCm39)	missense	probably damaging	1.00
R0744:Abca8a	UTSW	11	109,931,390 (GRCm39)	missense	possibly damaging	0.91
R0764:Abca8a	UTSW	11	109,950,772 (GRCm39)	missense	probably damaging	1.00
R0787:Abca8a	UTSW	11	109,933,814 (GRCm39)	missense	possibly damaging	0.60
R0836:Abca8a	UTSW	11	109,931,390 (GRCm39)	missense	possibly damaging	0.91
R0848:Abca8a	UTSW	11	109,919,016 (GRCm39)	missense	probably damaging	1.00
R0894:Abca8a	UTSW	11	109,941,792 (GRCm39)	missense	probably benign	0.00
R1163:Abca8a	UTSW	11	109,962,356 (GRCm39)	missense	probably benign	0.01
R1224:Abca8a	UTSW	11	109,931,408 (GRCm39)	missense	probably damaging	1.00
R1474:Abca8a	UTSW	11	109,960,635 (GRCm39)	missense	probably damaging	1.00
R1596:Abca8a	UTSW	11	109,958,886 (GRCm39)	missense	possibly damaging	0.89
R1708:Abca8a	UTSW	11	109,943,928 (GRCm39)	missense	probably damaging	1.00
R1715:Abca8a	UTSW	11	109,982,406 (GRCm39)	missense	probably damaging	0.98
R1795:Abca8a	UTSW	11	109,941,792 (GRCm39)	missense	probably benign	0.00
R1832:Abca8a	UTSW	11	109,962,277 (GRCm39)	missense	probably damaging	0.99
R1852:Abca8a	UTSW	11	109,960,212 (GRCm39)	missense	probably damaging	1.00
R1887:Abca8a	UTSW	11	109,980,768 (GRCm39)	missense	probably damaging	1.00
R1891:Abca8a	UTSW	11	109,982,433 (GRCm39)	missense	probably benign	0.20
R1917:Abca8a	UTSW	11	109,982,341 (GRCm39)	splice site	probably benign
R1943:Abca8a	UTSW	11	109,960,689 (GRCm39)	missense	probably benign	0.00
R1962:Abca8a	UTSW	11	109,917,731 (GRCm39)	critical splice acceptor site	probably null
R2016:Abca8a	UTSW	11	109,961,213 (GRCm39)	missense	probably damaging	0.99
R2037:Abca8a	UTSW	11	109,980,810 (GRCm39)	splice site	probably null
R2098:Abca8a	UTSW	11	109,927,405 (GRCm39)	missense	probably damaging	1.00
R2102:Abca8a	UTSW	11	109,958,878 (GRCm39)	missense	probably damaging	1.00
R2134:Abca8a	UTSW	11	109,921,743 (GRCm39)	missense	probably null	1.00
R2220:Abca8a	UTSW	11	109,917,681 (GRCm39)	missense	probably damaging	1.00
R2269:Abca8a	UTSW	11	109,917,718 (GRCm39)	missense	probably damaging	1.00
R2395:Abca8a	UTSW	11	109,959,614 (GRCm39)	missense	probably damaging	1.00
R2847:Abca8a	UTSW	11	109,932,931 (GRCm39)	missense	probably damaging	1.00
R2849:Abca8a	UTSW	11	109,932,931 (GRCm39)	missense	probably damaging	1.00
R3508:Abca8a	UTSW	11	109,953,991 (GRCm39)	missense	probably benign
R3974:Abca8a	UTSW	11	109,974,328 (GRCm39)	missense	probably damaging	1.00
R4009:Abca8a	UTSW	11	109,980,933 (GRCm39)	missense	probably damaging	0.98
R4163:Abca8a	UTSW	11	109,941,808 (GRCm39)	missense	probably benign	0.00
R4274:Abca8a	UTSW	11	109,980,930 (GRCm39)	missense	probably damaging	0.96
R4507:Abca8a	UTSW	11	109,953,851 (GRCm39)	missense	probably benign	0.19
R4672:Abca8a	UTSW	11	109,962,702 (GRCm39)	missense	possibly damaging	0.94
R4700:Abca8a	UTSW	11	109,961,308 (GRCm39)	missense	probably damaging	1.00
R4770:Abca8a	UTSW	11	109,962,341 (GRCm39)	missense	possibly damaging	0.82
R4946:Abca8a	UTSW	11	109,977,300 (GRCm39)	missense	probably damaging	1.00
R4955:Abca8a	UTSW	11	109,927,338 (GRCm39)	missense	probably benign	0.00
R5186:Abca8a	UTSW	11	109,982,425 (GRCm39)	missense	probably null	0.31
R5190:Abca8a	UTSW	11	109,980,735 (GRCm39)	critical splice donor site	probably null
R5597:Abca8a	UTSW	11	109,927,363 (GRCm39)	missense	probably damaging	1.00
R5677:Abca8a	UTSW	11	109,929,225 (GRCm39)	missense	possibly damaging	0.51
R5757:Abca8a	UTSW	11	109,933,794 (GRCm39)	missense	probably benign	0.28
R5822:Abca8a	UTSW	11	109,921,705 (GRCm39)	missense	probably damaging	0.98
R5925:Abca8a	UTSW	11	109,948,049 (GRCm39)	missense	probably damaging	1.00
R6090:Abca8a	UTSW	11	109,954,048 (GRCm39)	critical splice acceptor site	probably null
R6122:Abca8a	UTSW	11	109,961,249 (GRCm39)	missense	probably benign	0.40
R6189:Abca8a	UTSW	11	109,921,710 (GRCm39)	missense	probably damaging	1.00
R6200:Abca8a	UTSW	11	109,980,876 (GRCm39)	missense	probably damaging	0.98
R6374:Abca8a	UTSW	11	109,974,216 (GRCm39)	nonsense	probably null
R7022:Abca8a	UTSW	11	109,974,326 (GRCm39)	missense	probably damaging	1.00
R7161:Abca8a	UTSW	11	109,964,968 (GRCm39)	missense	probably benign	0.09
R7198:Abca8a	UTSW	11	109,969,481 (GRCm39)	missense	probably damaging	1.00
R7220:Abca8a	UTSW	11	109,980,793 (GRCm39)	missense	probably benign	0.00
R7290:Abca8a	UTSW	11	109,921,714 (GRCm39)	missense	probably benign	0.03
R7381:Abca8a	UTSW	11	109,920,913 (GRCm39)	splice site	probably null
R7437:Abca8a	UTSW	11	109,941,790 (GRCm39)	missense	probably benign
R7733:Abca8a	UTSW	11	109,945,413 (GRCm39)	missense	probably benign	0.02
R7785:Abca8a	UTSW	11	109,965,032 (GRCm39)	splice site	probably null
R7917:Abca8a	UTSW	11	109,958,933 (GRCm39)	missense	probably damaging	1.00
R7948:Abca8a	UTSW	11	109,941,805 (GRCm39)	missense	probably benign
R7957:Abca8a	UTSW	11	109,982,439 (GRCm39)	start codon destroyed	probably null	1.00
R7958:Abca8a	UTSW	11	109,922,498 (GRCm39)	missense	probably damaging	1.00
R7981:Abca8a	UTSW	11	109,980,739 (GRCm39)	missense	probably benign	0.00
R8033:Abca8a	UTSW	11	109,927,348 (GRCm39)	missense	probably damaging	1.00
R8069:Abca8a	UTSW	11	109,980,876 (GRCm39)	missense	probably damaging	0.98
R8116:Abca8a	UTSW	11	109,982,420 (GRCm39)	missense	probably benign	0.27
R8289:Abca8a	UTSW	11	109,927,515 (GRCm39)	intron	probably benign
R8334:Abca8a	UTSW	11	109,959,650 (GRCm39)	missense	probably damaging	1.00
R8371:Abca8a	UTSW	11	109,945,473 (GRCm39)	missense	probably benign	0.31
R8406:Abca8a	UTSW	11	109,977,343 (GRCm39)	missense	probably damaging	1.00
R8438:Abca8a	UTSW	11	109,966,404 (GRCm39)	missense	probably damaging	1.00
R8670:Abca8a	UTSW	11	109,966,424 (GRCm39)	missense	probably damaging	1.00
R8807:Abca8a	UTSW	11	109,974,252 (GRCm39)	missense	probably benign	0.35
R8821:Abca8a	UTSW	11	109,949,362 (GRCm39)	missense	probably damaging	0.98
R8838:Abca8a	UTSW	11	109,920,881 (GRCm39)	missense	probably damaging	1.00
R8884:Abca8a	UTSW	11	109,964,941 (GRCm39)	missense	possibly damaging	0.60
R8885:Abca8a	UTSW	11	109,960,305 (GRCm39)	missense	probably damaging	1.00
R8962:Abca8a	UTSW	11	109,969,634 (GRCm39)	missense	probably damaging	1.00
R8966:Abca8a	UTSW	11	109,962,245 (GRCm39)	critical splice donor site	probably null
R9272:Abca8a	UTSW	11	109,953,908 (GRCm39)	missense	probably damaging	0.99
R9331:Abca8a	UTSW	11	109,917,154 (GRCm39)	missense	probably damaging	1.00
R9397:Abca8a	UTSW	11	109,921,173 (GRCm39)	missense	probably damaging	1.00
R9498:Abca8a	UTSW	11	109,977,374 (GRCm39)	missense	probably damaging	0.99
R9529:Abca8a	UTSW	11	109,947,167 (GRCm39)	nonsense	probably null
R9564:Abca8a	UTSW	11	109,965,010 (GRCm39)	missense	probably benign	0.04
X0022:Abca8a	UTSW	11	109,921,923 (GRCm39)	missense	probably damaging	1.00
X0024:Abca8a	UTSW	11	109,974,161 (GRCm39)	missense	probably damaging	1.00
X0053:Abca8a	UTSW	11	109,974,310 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATGTTGGCAGACATGTGTACTC -3'
(R):5'- CCACTCTGTGATGATCAGATGAAAC -3'

Sequencing Primer
(F):5'- CATGTGTACTCATGTGGACAGAC -3'
(R):5'- GTGATGATCAGATGAAACGAATTTGC -3'

Posted On

2015-09-24