Incidental Mutation 'R9712:Abca8b'
ID 730269
Institutional Source Beutler Lab
Gene Symbol Abca8b
Ensembl Gene ENSMUSG00000020620
Gene Name ATP-binding cassette, sub-family A member 8b
Synonyms Abca8
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9712 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 109823016-109886671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109833163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1241 (D1241V)
Ref Sequence ENSEMBL: ENSMUSP00000020948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020948] [ENSMUST00000106669]
AlphaFold Q8K440
Predicted Effect probably benign
Transcript: ENSMUST00000020948
AA Change: D1241V

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620
AA Change: D1241V

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 28 417 3.9e-28 PFAM
AAA 507 691 6.36e-10 SMART
Pfam:ABC2_membrane_3 859 1215 1e-10 PFAM
low complexity region 1246 1255 N/A INTRINSIC
AAA 1313 1492 6.17e-8 SMART
low complexity region 1597 1607 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106669
AA Change: D1179V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102280
Gene: ENSMUSG00000020620
AA Change: D1179V

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 28 344 2.6e-16 PFAM
AAA 445 629 6.36e-10 SMART
transmembrane domain 798 815 N/A INTRINSIC
transmembrane domain 1001 1023 N/A INTRINSIC
transmembrane domain 1038 1060 N/A INTRINSIC
transmembrane domain 1072 1091 N/A INTRINSIC
transmembrane domain 1101 1123 N/A INTRINSIC
transmembrane domain 1136 1158 N/A INTRINSIC
low complexity region 1184 1193 N/A INTRINSIC
AAA 1251 1430 6.17e-8 SMART
low complexity region 1535 1545 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik A T 19: 3,765,784 (GRCm39) M20L probably benign Het
Aadacl4fm1 C T 4: 144,255,354 (GRCm39) A258V probably benign Het
Adam20 G A 8: 41,248,490 (GRCm39) R200H probably benign Het
Adcy10 T C 1: 165,340,681 (GRCm39) F229L probably damaging Het
Adsl A T 15: 80,839,840 (GRCm39) N126I probably benign Het
Ahnak GATCTCTAT GAT 19: 8,984,393 (GRCm39) probably benign Het
Ahnak AGATCTC A 19: 8,984,392 (GRCm39) probably benign Het
Aktip G A 8: 91,856,355 (GRCm39) P41S probably damaging Het
Alkbh3 C A 2: 93,811,318 (GRCm39) R258L probably damaging Het
Arfgap3 A G 15: 83,197,734 (GRCm39) Y341H probably benign Het
Arhgef26 C T 3: 62,331,034 (GRCm39) L583F probably damaging Het
Arhgef40 T C 14: 52,226,415 (GRCm39) I153T probably damaging Het
Atp1a1 T C 3: 101,498,757 (GRCm39) S179G probably benign Het
Bok T C 1: 93,614,229 (GRCm39) S21P probably damaging Het
Ccdc136 A G 6: 29,417,441 (GRCm39) E754G probably benign Het
Cers3 A G 7: 66,423,378 (GRCm39) K108E probably benign Het
Cmya5 T C 13: 93,201,881 (GRCm39) probably null Het
Col19a1 T C 1: 24,367,148 (GRCm39) E478G possibly damaging Het
Colec10 T A 15: 54,323,180 (GRCm39) S134R possibly damaging Het
Ctnnb1 A T 9: 120,784,895 (GRCm39) I514F probably damaging Het
Cux1 C T 5: 136,338,673 (GRCm39) E664K probably benign Het
Dars1 T C 1: 128,333,199 (GRCm39) Q75R probably benign Het
Disp1 T A 1: 182,917,379 (GRCm39) S16C probably damaging Het
Dnah7a A T 1: 53,598,299 (GRCm39) V1412E probably benign Het
Ect2l C T 10: 18,044,182 (GRCm39) V226I probably benign Het
Ep400 T A 5: 110,904,509 (GRCm39) H30L unknown Het
Ephx4 A G 5: 107,567,647 (GRCm39) I202V probably benign Het
Exoc3 A T 13: 74,341,027 (GRCm39) F259Y probably damaging Het
Ezr T C 17: 7,020,394 (GRCm39) E229G probably damaging Het
Fat1 A T 8: 45,470,417 (GRCm39) I1472L probably benign Het
Fsd1l T G 4: 53,679,972 (GRCm39) D223E probably benign Het
Gata6 A T 18: 11,059,064 (GRCm39) D377V possibly damaging Het
Gm12185 A T 11: 48,798,216 (GRCm39) M759K probably benign Het
Gm9922 C T 14: 101,966,893 (GRCm39) A120T unknown Het
Hectd4 A T 5: 121,448,744 (GRCm39) Y364F probably benign Het
Hnrnph1 A G 11: 50,276,696 (GRCm39) S465G unknown Het
Ifi204 T C 1: 173,576,924 (GRCm39) Y559C probably damaging Het
Ift88 T C 14: 57,718,853 (GRCm39) S613P probably damaging Het
Kif21a G C 15: 90,869,528 (GRCm39) A441G probably damaging Het
Kif21a G T 15: 90,879,715 (GRCm39) T191K probably benign Het
Lrit1 T A 14: 36,782,084 (GRCm39) C252* probably null Het
Ncbp1 T A 4: 46,144,837 (GRCm39) D29E probably benign Het
Nlrp10 A T 7: 108,524,735 (GRCm39) D248E probably damaging Het
Nphp4 T G 4: 152,631,521 (GRCm39) V807G probably benign Het
Nsd1 T C 13: 55,393,856 (GRCm39) S589P possibly damaging Het
Oas1b T A 5: 120,952,550 (GRCm39) N80K probably damaging Het
Oprk1 T A 1: 5,669,096 (GRCm39) C181S probably damaging Het
Oprl1 T A 2: 181,360,212 (GRCm39) N89K probably damaging Het
Or5w12 A T 2: 87,502,105 (GRCm39) I202N probably benign Het
Or8k53 G A 2: 86,177,583 (GRCm39) H176Y probably benign Het
Pdcd11 A G 19: 47,117,741 (GRCm39) K1697E probably damaging Het
Pdp1 G A 4: 11,961,607 (GRCm39) H254Y probably benign Het
Pds5b A T 5: 150,729,128 (GRCm39) D1419V possibly damaging Het
Per1 G T 11: 68,991,475 (GRCm39) G3V probably benign Het
Pex16 C A 2: 92,206,988 (GRCm39) N55K probably damaging Het
Phldb2 C A 16: 45,595,340 (GRCm39) L862F probably benign Het
Pld5 T A 1: 175,791,572 (GRCm39) D478V probably benign Het
Pms2 T C 5: 143,851,614 (GRCm39) I177T probably damaging Het
Pou1f1 A T 16: 65,326,758 (GRCm39) E119D probably benign Het
Ppp2r1a A C 17: 21,179,058 (GRCm39) E295A probably damaging Het
Qrfprl A G 6: 65,433,124 (GRCm39) I315V probably benign Het
Rad51ap2 A T 12: 11,507,593 (GRCm39) N505I possibly damaging Het
Rasal3 A C 17: 32,615,536 (GRCm39) V434G probably damaging Het
Rasgrf2 C T 13: 92,136,092 (GRCm39) V6M Het
Rwdd1 A T 10: 33,877,152 (GRCm39) D197E Het
Scn11a A T 9: 119,619,076 (GRCm39) C755* probably null Het
Skil T C 3: 31,171,009 (GRCm39) S443P probably benign Het
Slc12a6 T C 2: 112,186,817 (GRCm39) C939R probably damaging Het
Slc25a36 A G 9: 96,961,230 (GRCm39) S269P probably benign Het
Srrm4 T A 5: 116,620,452 (GRCm39) H92L unknown Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Tbc1d4 A T 14: 101,744,846 (GRCm39) V260E probably benign Het
Tbc1d8 T C 1: 39,424,313 (GRCm39) N593D probably damaging Het
Trex1 C A 9: 108,887,805 (GRCm39) R62L probably damaging Het
Trpm3 A T 19: 22,692,716 (GRCm39) D269V possibly damaging Het
Trpv4 G T 5: 114,771,211 (GRCm39) Y439* probably null Het
Ttn G A 2: 76,564,592 (GRCm39) T28515I probably damaging Het
Ucn2 G A 9: 108,815,571 (GRCm39) G111D probably damaging Het
Uhrf2 A G 19: 30,033,881 (GRCm39) I212V possibly damaging Het
Usp24 T A 4: 106,204,564 (GRCm39) M261K probably benign Het
Vmn1r235 A T 17: 21,481,960 (GRCm39) D95V probably benign Het
Vwf G A 6: 125,601,536 (GRCm39) R826Q Het
Zfp1002 C T 2: 150,096,496 (GRCm39) R311Q probably benign Het
Zfp28 T C 7: 6,396,878 (GRCm39) C438R probably damaging Het
Other mutations in Abca8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00862:Abca8b APN 11 109,844,374 (GRCm39) missense possibly damaging 0.66
IGL00952:Abca8b APN 11 109,859,886 (GRCm39) critical splice donor site probably null
IGL01141:Abca8b APN 11 109,828,556 (GRCm39) missense probably damaging 1.00
IGL01523:Abca8b APN 11 109,867,320 (GRCm39) missense probably damaging 1.00
IGL01633:Abca8b APN 11 109,827,580 (GRCm39) missense probably damaging 0.99
IGL01862:Abca8b APN 11 109,837,997 (GRCm39) nonsense probably null
IGL01963:Abca8b APN 11 109,862,589 (GRCm39) missense probably damaging 0.99
IGL02169:Abca8b APN 11 109,843,408 (GRCm39) missense probably damaging 0.98
IGL02536:Abca8b APN 11 109,872,574 (GRCm39) missense probably benign 0.02
IGL02658:Abca8b APN 11 109,843,386 (GRCm39) missense probably benign
IGL02828:Abca8b APN 11 109,871,720 (GRCm39) missense probably damaging 0.99
IGL03118:Abca8b APN 11 109,838,007 (GRCm39) missense possibly damaging 0.66
IGL03302:Abca8b APN 11 109,858,576 (GRCm39) missense possibly damaging 0.80
IGL03325:Abca8b APN 11 109,844,422 (GRCm39) missense possibly damaging 0.94
R0057:Abca8b UTSW 11 109,832,385 (GRCm39) missense possibly damaging 0.91
R0131:Abca8b UTSW 11 109,833,115 (GRCm39) missense possibly damaging 0.46
R0226:Abca8b UTSW 11 109,847,844 (GRCm39) splice site probably null
R0426:Abca8b UTSW 11 109,845,853 (GRCm39) splice site probably benign
R0432:Abca8b UTSW 11 109,870,841 (GRCm39) missense possibly damaging 0.94
R0512:Abca8b UTSW 11 109,841,476 (GRCm39) missense probably benign 0.32
R0589:Abca8b UTSW 11 109,833,094 (GRCm39) missense probably damaging 0.96
R0690:Abca8b UTSW 11 109,860,634 (GRCm39) splice site probably benign
R1263:Abca8b UTSW 11 109,832,433 (GRCm39) missense possibly damaging 0.66
R1371:Abca8b UTSW 11 109,844,379 (GRCm39) missense probably damaging 0.99
R1497:Abca8b UTSW 11 109,864,647 (GRCm39) splice site probably benign
R1502:Abca8b UTSW 11 109,865,471 (GRCm39) missense probably damaging 1.00
R1517:Abca8b UTSW 11 109,862,640 (GRCm39) missense possibly damaging 0.66
R1543:Abca8b UTSW 11 109,865,500 (GRCm39) missense probably damaging 0.98
R1618:Abca8b UTSW 11 109,840,714 (GRCm39) splice site probably benign
R1625:Abca8b UTSW 11 109,857,947 (GRCm39) missense probably benign 0.11
R1753:Abca8b UTSW 11 109,864,542 (GRCm39) missense probably benign 0.00
R1819:Abca8b UTSW 11 109,871,882 (GRCm39) critical splice acceptor site probably null
R1822:Abca8b UTSW 11 109,847,901 (GRCm39) missense possibly damaging 0.92
R1829:Abca8b UTSW 11 109,833,167 (GRCm39) missense probably damaging 0.97
R1873:Abca8b UTSW 11 109,870,781 (GRCm39) missense probably benign 0.01
R1899:Abca8b UTSW 11 109,828,744 (GRCm39) missense possibly damaging 0.92
R1908:Abca8b UTSW 11 109,847,924 (GRCm39) missense possibly damaging 0.92
R1962:Abca8b UTSW 11 109,870,724 (GRCm39) missense probably benign 0.00
R1984:Abca8b UTSW 11 109,868,667 (GRCm39) missense probably damaging 1.00
R2035:Abca8b UTSW 11 109,847,932 (GRCm39) missense possibly damaging 0.94
R2092:Abca8b UTSW 11 109,857,534 (GRCm39) missense possibly damaging 0.63
R2100:Abca8b UTSW 11 109,828,608 (GRCm39) missense probably damaging 1.00
R2267:Abca8b UTSW 11 109,845,974 (GRCm39) missense probably benign 0.03
R2871:Abca8b UTSW 11 109,846,002 (GRCm39) missense possibly damaging 0.83
R2871:Abca8b UTSW 11 109,846,002 (GRCm39) missense possibly damaging 0.83
R2872:Abca8b UTSW 11 109,846,002 (GRCm39) missense possibly damaging 0.83
R2872:Abca8b UTSW 11 109,846,002 (GRCm39) missense possibly damaging 0.83
R2873:Abca8b UTSW 11 109,846,002 (GRCm39) missense possibly damaging 0.83
R3711:Abca8b UTSW 11 109,837,081 (GRCm39) missense possibly damaging 0.46
R3937:Abca8b UTSW 11 109,865,393 (GRCm39) missense probably benign 0.01
R4052:Abca8b UTSW 11 109,872,551 (GRCm39) nonsense probably null
R4060:Abca8b UTSW 11 109,848,027 (GRCm39) missense probably benign 0.04
R4207:Abca8b UTSW 11 109,872,551 (GRCm39) nonsense probably null
R4208:Abca8b UTSW 11 109,872,551 (GRCm39) nonsense probably null
R4354:Abca8b UTSW 11 109,862,518 (GRCm39) missense probably benign 0.27
R4399:Abca8b UTSW 11 109,827,211 (GRCm39) missense possibly damaging 0.66
R4456:Abca8b UTSW 11 109,833,071 (GRCm39) missense probably benign 0.27
R4509:Abca8b UTSW 11 109,857,581 (GRCm39) missense probably damaging 1.00
R4672:Abca8b UTSW 11 109,827,274 (GRCm39) missense possibly damaging 0.81
R4868:Abca8b UTSW 11 109,865,338 (GRCm39) missense probably benign 0.05
R5002:Abca8b UTSW 11 109,852,623 (GRCm39) missense probably damaging 0.96
R5007:Abca8b UTSW 11 109,827,590 (GRCm39) missense probably damaging 1.00
R5014:Abca8b UTSW 11 109,840,957 (GRCm39) missense probably damaging 0.98
R5023:Abca8b UTSW 11 109,865,814 (GRCm39) critical splice donor site probably null
R5091:Abca8b UTSW 11 109,827,210 (GRCm39) missense possibly damaging 0.92
R5098:Abca8b UTSW 11 109,847,944 (GRCm39) missense probably benign 0.05
R5117:Abca8b UTSW 11 109,857,629 (GRCm39) missense probably damaging 1.00
R5234:Abca8b UTSW 11 109,867,420 (GRCm39) missense possibly damaging 0.90
R5302:Abca8b UTSW 11 109,868,639 (GRCm39) missense probably damaging 1.00
R5307:Abca8b UTSW 11 109,868,639 (GRCm39) missense probably damaging 1.00
R5487:Abca8b UTSW 11 109,844,340 (GRCm39) missense probably damaging 0.99
R5512:Abca8b UTSW 11 109,868,639 (GRCm39) missense probably damaging 1.00
R5564:Abca8b UTSW 11 109,825,407 (GRCm39) missense probably benign 0.08
R5610:Abca8b UTSW 11 109,868,639 (GRCm39) missense probably damaging 1.00
R5677:Abca8b UTSW 11 109,831,687 (GRCm39) missense probably damaging 1.00
R5723:Abca8b UTSW 11 109,844,445 (GRCm39) missense possibly damaging 0.90
R5827:Abca8b UTSW 11 109,868,639 (GRCm39) missense probably damaging 1.00
R5829:Abca8b UTSW 11 109,868,639 (GRCm39) missense probably damaging 1.00
R5848:Abca8b UTSW 11 109,868,639 (GRCm39) missense probably damaging 1.00
R5849:Abca8b UTSW 11 109,868,639 (GRCm39) missense probably damaging 1.00
R5850:Abca8b UTSW 11 109,868,639 (GRCm39) missense probably damaging 1.00
R5854:Abca8b UTSW 11 109,868,639 (GRCm39) missense probably damaging 1.00
R5982:Abca8b UTSW 11 109,844,423 (GRCm39) missense possibly damaging 0.80
R5994:Abca8b UTSW 11 109,840,592 (GRCm39) splice site probably null
R6035:Abca8b UTSW 11 109,862,686 (GRCm39) splice site probably null
R6035:Abca8b UTSW 11 109,862,686 (GRCm39) splice site probably null
R6050:Abca8b UTSW 11 109,868,639 (GRCm39) missense probably damaging 1.00
R6145:Abca8b UTSW 11 109,864,634 (GRCm39) missense probably benign 0.03
R6223:Abca8b UTSW 11 109,868,672 (GRCm39) missense probably benign 0.00
R6349:Abca8b UTSW 11 109,825,544 (GRCm39) splice site probably null
R7002:Abca8b UTSW 11 109,832,390 (GRCm39) missense probably damaging 1.00
R7050:Abca8b UTSW 11 109,864,544 (GRCm39) missense possibly damaging 0.90
R7107:Abca8b UTSW 11 109,867,299 (GRCm39) missense probably damaging 0.98
R7158:Abca8b UTSW 11 109,825,415 (GRCm39) missense probably damaging 1.00
R7170:Abca8b UTSW 11 109,836,654 (GRCm39) missense probably benign 0.09
R7197:Abca8b UTSW 11 109,836,648 (GRCm39) nonsense probably null
R7220:Abca8b UTSW 11 109,872,543 (GRCm39) missense probably damaging 1.00
R7512:Abca8b UTSW 11 109,829,275 (GRCm39) missense probably benign 0.01
R7590:Abca8b UTSW 11 109,829,341 (GRCm39) missense probably damaging 0.97
R7658:Abca8b UTSW 11 109,826,543 (GRCm39) missense probably benign 0.00
R7739:Abca8b UTSW 11 109,865,417 (GRCm39) missense probably benign 0.05
R7797:Abca8b UTSW 11 109,862,509 (GRCm39) critical splice donor site probably null
R7934:Abca8b UTSW 11 109,865,865 (GRCm39) missense possibly damaging 0.75
R8074:Abca8b UTSW 11 109,829,320 (GRCm39) missense probably benign
R8302:Abca8b UTSW 11 109,853,406 (GRCm39) critical splice donor site probably null
R8341:Abca8b UTSW 11 109,845,876 (GRCm39) missense probably damaging 1.00
R8486:Abca8b UTSW 11 109,857,937 (GRCm39) missense possibly damaging 0.83
R8748:Abca8b UTSW 11 109,836,597 (GRCm39) missense probably damaging 1.00
R8924:Abca8b UTSW 11 109,838,003 (GRCm39) missense probably benign 0.00
R9002:Abca8b UTSW 11 109,843,456 (GRCm39) missense probably benign 0.02
R9032:Abca8b UTSW 11 109,848,073 (GRCm39) missense probably benign 0.04
R9099:Abca8b UTSW 11 109,871,708 (GRCm39) missense probably damaging 1.00
R9124:Abca8b UTSW 11 109,828,593 (GRCm39) missense probably damaging 0.97
R9178:Abca8b UTSW 11 109,840,937 (GRCm39) missense probably benign 0.00
R9188:Abca8b UTSW 11 109,872,561 (GRCm39) nonsense probably null
R9277:Abca8b UTSW 11 109,867,347 (GRCm39) missense probably damaging 0.99
R9340:Abca8b UTSW 11 109,840,939 (GRCm39) missense probably benign 0.43
R9371:Abca8b UTSW 11 109,858,498 (GRCm39) missense probably damaging 1.00
R9382:Abca8b UTSW 11 109,870,711 (GRCm39) missense probably benign
R9450:Abca8b UTSW 11 109,859,930 (GRCm39) missense probably damaging 0.98
R9462:Abca8b UTSW 11 109,844,433 (GRCm39) missense
Z1088:Abca8b UTSW 11 109,867,308 (GRCm39) missense probably benign 0.09
Z1176:Abca8b UTSW 11 109,865,470 (GRCm39) missense possibly damaging 0.87
Z1176:Abca8b UTSW 11 109,852,734 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- GGCCACACTATAAAACAGTGACTTC -3'
(R):5'- GTCACATGGGATGAATGCAGACTAC -3'

Sequencing Primer
(F):5'- AACAGTGACTTCCTTTTGTTAGGATG -3'
(R):5'- TGAATGCAGACTACACCAAAGG -3'
Posted On 2022-10-06