Incidental Mutation 'R0894:Abca8a'
ID 83689
Institutional Source Beutler Lab
Gene Symbol Abca8a
Ensembl Gene ENSMUSG00000041828
Gene Name ATP-binding cassette, sub-family A member 8a
Synonyms
MMRRC Submission 039057-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R0894 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 109916460-109986804 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109941792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1159 (I1159T)
Ref Sequence ENSEMBL: ENSMUSP00000102275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046223] [ENSMUST00000100287] [ENSMUST00000106664]
AlphaFold Q8K442
Predicted Effect probably benign
Transcript: ENSMUST00000046223
AA Change: I1158T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: I1158T

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000100287
AA Change: I1159T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: I1159T

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000106664
AA Change: I1159T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: I1159T

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency 97% (102/105)
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,471,726 (GRCm39) S1044G probably benign Het
Aanat A G 11: 116,487,730 (GRCm39) H143R probably benign Het
Abcb1a G T 5: 8,724,856 (GRCm39) probably benign Het
Abcc1 T C 16: 14,283,001 (GRCm39) V1159A possibly damaging Het
Akr1e1 T A 13: 4,645,071 (GRCm39) Q204L probably damaging Het
Alk T C 17: 72,202,930 (GRCm39) Y1135C probably damaging Het
Atad2b C T 12: 5,015,915 (GRCm39) T547I probably damaging Het
Brd10 T C 19: 29,697,974 (GRCm39) probably benign Het
C030005K15Rik A T 10: 97,561,648 (GRCm39) S28T unknown Het
Cdk5rap3 A G 11: 96,799,654 (GRCm39) L387P probably damaging Het
Cfap95 T C 19: 23,630,062 (GRCm39) E10G unknown Het
Cfap96 A G 8: 46,409,497 (GRCm39) F274S probably damaging Het
Clec4f T A 6: 83,629,979 (GRCm39) N193I probably damaging Het
Col4a4 A T 1: 82,507,377 (GRCm39) probably null Het
Cplx4 T G 18: 66,090,116 (GRCm39) D101A possibly damaging Het
Cpne8 A T 15: 90,533,474 (GRCm39) D50E probably damaging Het
Csmd3 G T 15: 47,721,316 (GRCm39) D1542E possibly damaging Het
Ctdp1 A G 18: 80,512,736 (GRCm39) V9A probably benign Het
Ctnnd2 A T 15: 30,332,301 (GRCm39) probably benign Het
Cyp7b1 C T 3: 18,151,674 (GRCm39) A180T probably benign Het
Dcun1d5 C T 9: 7,203,379 (GRCm39) probably benign Het
Dgat1 G T 15: 76,387,199 (GRCm39) L363I possibly damaging Het
Dipk2b T A X: 18,289,791 (GRCm39) I224F possibly damaging Het
Dlg1 T A 16: 31,561,965 (GRCm39) H120Q probably benign Het
Dnah6 T C 6: 73,101,740 (GRCm39) N1928S probably benign Het
Dnai4 T C 4: 102,906,583 (GRCm39) probably benign Het
Dync2h1 A T 9: 7,041,734 (GRCm39) probably benign Het
Ednra T G 8: 78,446,649 (GRCm39) probably benign Het
Efcab6 A T 15: 83,802,493 (GRCm39) C845S probably benign Het
Egln1 A T 8: 125,642,435 (GRCm39) C303S probably damaging Het
Eomes T C 9: 118,311,368 (GRCm39) probably null Het
Epha1 A G 6: 42,340,756 (GRCm39) V568A probably benign Het
Ercc6 T A 14: 32,238,985 (GRCm39) N24K probably benign Het
Esco2 T C 14: 66,064,726 (GRCm39) Q338R probably benign Het
Fbxo46 T C 7: 18,869,654 (GRCm39) V91A probably damaging Het
Fryl A T 5: 73,198,675 (GRCm39) probably benign Het
Gab3 A C X: 74,077,024 (GRCm39) D43E probably damaging Het
Gltpd2 T A 11: 70,410,535 (GRCm39) probably benign Het
Gm17333 G T 16: 77,649,711 (GRCm39) noncoding transcript Het
Gm7353 T C 7: 3,160,570 (GRCm39) noncoding transcript Het
Grik4 T C 9: 42,599,405 (GRCm39) probably benign Het
Gtpbp2 G T 17: 46,476,895 (GRCm39) A358S possibly damaging Het
Hyls1 C T 9: 35,472,528 (GRCm39) C296Y probably damaging Het
Igf2r C T 17: 12,910,988 (GRCm39) M1943I probably benign Het
Iqca1l T C 5: 24,755,731 (GRCm39) probably null Het
Ireb2 T A 9: 54,803,861 (GRCm39) N517K probably damaging Het
Itga10 A G 3: 96,560,976 (GRCm39) S614G possibly damaging Het
Kdm2b A G 5: 123,122,523 (GRCm39) probably null Het
Kif17 T C 4: 138,025,542 (GRCm39) M948T possibly damaging Het
Klhl33 A T 14: 51,129,583 (GRCm39) N347K probably damaging Het
Llph T A 10: 120,064,086 (GRCm39) C67* probably null Het
Lrrn3 T C 12: 41,504,033 (GRCm39) T95A probably damaging Het
Map3k12 C A 15: 102,410,613 (GRCm39) A455S probably damaging Het
Mex3d T C 10: 80,217,376 (GRCm39) T149A probably benign Het
Myo7b A G 18: 32,133,123 (GRCm39) W409R probably damaging Het
Nbea A G 3: 55,916,761 (GRCm39) M833T possibly damaging Het
Ncapg A G 5: 45,837,236 (GRCm39) T436A probably null Het
Nkx1-2 C A 7: 132,201,042 (GRCm39) D72Y probably null Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2d3b T A 7: 106,514,317 (GRCm39) I304K probably benign Het
Or6c217 T A 10: 129,737,751 (GRCm39) N276I probably damaging Het
Pcdh15 A G 10: 74,460,087 (GRCm39) Y1308C probably damaging Het
Pcnx2 A G 8: 126,613,665 (GRCm39) probably benign Het
Pcsk1 G A 13: 75,246,096 (GRCm39) G158D probably damaging Het
Phkb A T 8: 86,744,070 (GRCm39) D573V probably damaging Het
Pik3r4 A G 9: 105,544,970 (GRCm39) K150E possibly damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Ppp4r4 C T 12: 103,566,754 (GRCm39) A67V probably damaging Het
Prex2 A G 1: 11,252,122 (GRCm39) T1056A probably benign Het
Prkca A T 11: 107,903,518 (GRCm39) Y285N possibly damaging Het
Psd T C 19: 46,301,880 (GRCm39) E903G probably damaging Het
Psg19 T C 7: 18,527,987 (GRCm39) E252G probably benign Het
Psg20 T A 7: 18,414,969 (GRCm39) K306* probably null Het
Pygl T G 12: 70,241,148 (GRCm39) probably benign Het
Rasgrf2 A G 13: 92,130,890 (GRCm39) S724P probably damaging Het
Reck C A 4: 43,922,967 (GRCm39) A414D probably damaging Het
Scn10a C A 9: 119,459,213 (GRCm39) V1150L probably damaging Het
Shc2 A T 10: 79,465,751 (GRCm39) I187N probably damaging Het
Sipa1l3 T A 7: 29,086,716 (GRCm39) K625* probably null Het
Slc44a4 T C 17: 35,147,466 (GRCm39) L583P possibly damaging Het
Slc5a11 G C 7: 122,857,643 (GRCm39) R244P possibly damaging Het
Slfn8 T A 11: 82,894,407 (GRCm39) Q744L probably benign Het
Snx2 G T 18: 53,309,488 (GRCm39) V13L probably benign Het
Spmip5 A T 19: 58,776,015 (GRCm39) L138Q probably damaging Het
Spsb1 C T 4: 149,990,872 (GRCm39) probably null Het
Stfa2l1 A T 16: 35,977,228 (GRCm39) I8L probably benign Het
Svil G T 18: 5,097,494 (GRCm39) R1659L probably damaging Het
Tbccd1 A T 16: 22,640,995 (GRCm39) L461M probably benign Het
Tmem9 A T 1: 135,961,926 (GRCm39) T174S possibly damaging Het
Tnks2 T C 19: 36,867,450 (GRCm39) probably null Het
Tnrc18 C A 5: 142,800,869 (GRCm39) V30L probably benign Het
Tomm7 A G 5: 24,049,025 (GRCm39) F16S probably damaging Het
Ttf2 A G 3: 100,876,865 (GRCm39) probably benign Het
Ubr7 C A 12: 102,735,450 (GRCm39) T303N probably damaging Het
Ushbp1 A T 8: 71,842,868 (GRCm39) probably null Het
Vmn1r177 C A 7: 23,565,475 (GRCm39) V134F probably benign Het
Vmn2r12 A G 5: 109,235,716 (GRCm39) probably null Het
Vmn2r53 T G 7: 12,335,141 (GRCm39) H173P probably benign Het
Yars1 A T 4: 129,090,948 (GRCm39) M119L probably damaging Het
Zcrb1 A T 15: 93,295,038 (GRCm39) probably benign Het
Zfp267 T A 3: 36,218,935 (GRCm39) Y319* probably null Het
Zfp319 C A 8: 96,056,250 (GRCm39) probably benign Het
Zfp783 C G 6: 47,920,320 (GRCm39) noncoding transcript Het
Zfyve26 A G 12: 79,320,372 (GRCm39) I1024T possibly damaging Het
Other mutations in Abca8a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4571:Abca8a UTSW 11 109,920,884 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-11-08