Incidental Mutation 'R5307:Abca8b'
ID 404661
Institutional Source Beutler Lab
Gene Symbol Abca8b
Ensembl Gene ENSMUSG00000020620
Gene Name ATP-binding cassette, sub-family A (ABC1), member 8b
Synonyms Abca8
MMRRC Submission 042890-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5307 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 109932190-109995845 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 109977813 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 175 (G175V)
Ref Sequence ENSEMBL: ENSMUSP00000102280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020948] [ENSMUST00000106669]
AlphaFold Q8K440
Predicted Effect probably damaging
Transcript: ENSMUST00000020948
AA Change: G175V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620
AA Change: G175V

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: G175V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102280
Gene: ENSMUSG00000020620
AA Change: G175V

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
Meta Mutation Damage Score 0.9202 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C G 3: 124,406,350 (GRCm38) G531A probably damaging Het
2410089E03Rik G A 15: 8,260,690 (GRCm38) probably null Het
Ank3 G A 10: 70,002,565 (GRCm38) R1566K possibly damaging Het
Ap3d1 T C 10: 80,723,549 (GRCm38) T264A probably benign Het
Arhgef17 C G 7: 100,929,428 (GRCm38) G771A probably benign Het
Atg2b T A 12: 105,658,329 (GRCm38) D637V probably benign Het
Atp10b A G 11: 43,212,475 (GRCm38) E562G probably damaging Het
Atp1a1 A G 3: 101,589,964 (GRCm38) V342A probably damaging Het
Atp2a2 A G 5: 122,461,747 (GRCm38) I527T probably benign Het
Atr T A 9: 95,878,544 (GRCm38) N1022K probably benign Het
Bach2 T A 4: 32,562,683 (GRCm38) D383E probably benign Het
Casq1 A T 1: 172,219,416 (GRCm38) L92Q probably damaging Het
Chd1 T A 17: 15,732,570 (GRCm38) Y371N probably damaging Het
Chd9 G A 8: 90,997,149 (GRCm38) A617T probably damaging Het
Cntrob T A 11: 69,314,750 (GRCm38) R419S possibly damaging Het
Corin C A 5: 72,356,978 (GRCm38) G318C probably damaging Het
Cpa3 A G 3: 20,227,163 (GRCm38) probably null Het
Crybg1 T C 10: 44,003,714 (GRCm38) S493G probably benign Het
Ddc A G 11: 11,876,321 (GRCm38) F80S probably damaging Het
Dhrs2 A G 14: 55,236,144 (GRCm38) S87G possibly damaging Het
Dnah12 A G 14: 26,693,486 (GRCm38) E14G possibly damaging Het
Dtd1 A G 2: 144,747,022 (GRCm38) E200G possibly damaging Het
Dync2h1 T C 9: 7,155,099 (GRCm38) E895G probably damaging Het
Ehhadh A C 16: 21,762,692 (GRCm38) S517A probably benign Het
Ephb2 C A 4: 136,693,787 (GRCm38) Q417H possibly damaging Het
Ephb4 A G 5: 137,363,312 (GRCm38) T526A probably damaging Het
Fam222b G A 11: 78,153,768 (GRCm38) V52I probably damaging Het
Galm G T 17: 80,144,988 (GRCm38) W118C probably damaging Het
Galm G A 17: 80,144,987 (GRCm38) W118* probably null Het
Gcfc2 A G 6: 81,944,386 (GRCm38) N458D probably damaging Het
Gm11595 G A 11: 99,772,555 (GRCm38) R100C unknown Het
Gykl1 A C 18: 52,694,651 (GRCm38) R310S possibly damaging Het
Gzmn A C 14: 56,167,946 (GRCm38) V27G probably damaging Het
H2-T23 T A 17: 36,032,216 (GRCm38) M90L probably benign Het
Hnrnpu T C 1: 178,337,312 (GRCm38) E87G unknown Het
Hps3 G A 3: 20,012,701 (GRCm38) S567L possibly damaging Het
Igfn1 A T 1: 135,964,938 (GRCm38) V2148E probably damaging Het
Ighv1-75 T C 12: 115,833,952 (GRCm38) R117G probably damaging Het
Itgae C T 11: 73,145,638 (GRCm38) A1134V probably benign Het
Kmt2b C T 7: 30,581,673 (GRCm38) A1294T possibly damaging Het
Leng8 C T 7: 4,145,473 (GRCm38) T748I probably damaging Het
Lrig3 G C 10: 126,006,690 (GRCm38) D495H probably damaging Het
Mctp1 G A 13: 76,712,079 (GRCm38) probably null Het
Mfsd3 T A 15: 76,702,171 (GRCm38) L168* probably null Het
Nlrp4d C A 7: 10,362,782 (GRCm38) G921* probably null Het
Nsun4 G A 4: 116,034,138 (GRCm38) T348I probably damaging Het
Nucb1 T C 7: 45,498,418 (GRCm38) T246A probably damaging Het
Nynrin A C 14: 55,863,806 (GRCm38) S311R probably damaging Het
Olfr1019 T G 2: 85,841,014 (GRCm38) Y259S probably damaging Het
Olfr1281 T A 2: 111,328,396 (GRCm38) probably null Het
Ovch2 C A 7: 107,792,134 (GRCm38) R303L probably benign Het
Pcsk9 A G 4: 106,447,174 (GRCm38) S490P probably damaging Het
Pi4ka A G 16: 17,323,030 (GRCm38) F859L probably benign Het
Pkd1l3 A G 8: 109,640,792 (GRCm38) D1207G probably damaging Het
Pnpla7 G A 2: 25,021,952 (GRCm38) R710Q possibly damaging Het
Prex2 T G 1: 11,200,032 (GRCm38) S1314A probably damaging Het
Rnf216 A G 5: 143,093,002 (GRCm38) L64P probably damaging Het
Sh3bp5 C A 14: 31,377,495 (GRCm38) R265L probably benign Het
Slc6a20b T G 9: 123,603,834 (GRCm38) S374R possibly damaging Het
Slc8a1 G T 17: 81,649,224 (GRCm38) N128K probably damaging Het
Slc9a3r1 T A 11: 115,163,761 (GRCm38) I79N probably damaging Het
Slfn5 A T 11: 82,956,385 (GRCm38) D32V probably damaging Het
Snrnp35 T C 5: 124,490,490 (GRCm38) I122T possibly damaging Het
Snx24 C T 18: 53,340,211 (GRCm38) Q76* probably null Het
Sspo T A 6: 48,454,850 (GRCm38) H692Q probably damaging Het
Stxbp3 T C 3: 108,793,798 (GRCm38) D585G probably damaging Het
Svep1 T C 4: 58,072,677 (GRCm38) N2211D possibly damaging Het
Tnfrsf18 G A 4: 156,028,424 (GRCm38) probably null Het
Tnik T G 3: 28,541,972 (GRCm38) D171E probably damaging Het
Ttc23l T A 15: 10,533,659 (GRCm38) H266L probably damaging Het
Ttn G T 2: 76,894,770 (GRCm38) S2037* probably null Het
Tuba3a G A 6: 125,281,310 (GRCm38) T239I probably damaging Het
Usp25 T A 16: 77,093,706 (GRCm38) D767E probably benign Het
Whrn G T 4: 63,431,843 (GRCm38) H546N probably benign Het
Xirp2 C T 2: 67,511,162 (GRCm38) T1249I probably damaging Het
Zbtb1 T A 12: 76,386,240 (GRCm38) D333E probably damaging Het
Zfp689 T G 7: 127,448,815 (GRCm38) E15A possibly damaging Het
Zhx3 A G 2: 160,779,868 (GRCm38) M793T probably benign Het
Other mutations in Abca8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00862:Abca8b APN 11 109,953,548 (GRCm38) missense possibly damaging 0.66
IGL00952:Abca8b APN 11 109,969,060 (GRCm38) critical splice donor site probably null
IGL01141:Abca8b APN 11 109,937,730 (GRCm38) missense probably damaging 1.00
IGL01523:Abca8b APN 11 109,976,494 (GRCm38) missense probably damaging 1.00
IGL01633:Abca8b APN 11 109,936,754 (GRCm38) missense probably damaging 0.99
IGL01862:Abca8b APN 11 109,947,171 (GRCm38) nonsense probably null
IGL01963:Abca8b APN 11 109,971,763 (GRCm38) missense probably damaging 0.99
IGL02169:Abca8b APN 11 109,952,582 (GRCm38) missense probably damaging 0.98
IGL02536:Abca8b APN 11 109,981,748 (GRCm38) missense probably benign 0.02
IGL02658:Abca8b APN 11 109,952,560 (GRCm38) missense probably benign
IGL02828:Abca8b APN 11 109,980,894 (GRCm38) missense probably damaging 0.99
IGL03118:Abca8b APN 11 109,947,181 (GRCm38) missense possibly damaging 0.66
IGL03302:Abca8b APN 11 109,967,750 (GRCm38) missense possibly damaging 0.80
IGL03325:Abca8b APN 11 109,953,596 (GRCm38) missense possibly damaging 0.94
R0057:Abca8b UTSW 11 109,941,559 (GRCm38) missense possibly damaging 0.91
R0131:Abca8b UTSW 11 109,942,289 (GRCm38) missense possibly damaging 0.46
R0226:Abca8b UTSW 11 109,957,018 (GRCm38) splice site probably null
R0426:Abca8b UTSW 11 109,955,027 (GRCm38) splice site probably benign
R0432:Abca8b UTSW 11 109,980,015 (GRCm38) missense possibly damaging 0.94
R0512:Abca8b UTSW 11 109,950,650 (GRCm38) missense probably benign 0.32
R0589:Abca8b UTSW 11 109,942,268 (GRCm38) missense probably damaging 0.96
R0690:Abca8b UTSW 11 109,969,808 (GRCm38) splice site probably benign
R1263:Abca8b UTSW 11 109,941,607 (GRCm38) missense possibly damaging 0.66
R1371:Abca8b UTSW 11 109,953,553 (GRCm38) missense probably damaging 0.99
R1497:Abca8b UTSW 11 109,973,821 (GRCm38) splice site probably benign
R1502:Abca8b UTSW 11 109,974,645 (GRCm38) missense probably damaging 1.00
R1517:Abca8b UTSW 11 109,971,814 (GRCm38) missense possibly damaging 0.66
R1543:Abca8b UTSW 11 109,974,674 (GRCm38) missense probably damaging 0.98
R1618:Abca8b UTSW 11 109,949,888 (GRCm38) splice site probably benign
R1625:Abca8b UTSW 11 109,967,121 (GRCm38) missense probably benign 0.11
R1753:Abca8b UTSW 11 109,973,716 (GRCm38) missense probably benign 0.00
R1819:Abca8b UTSW 11 109,981,056 (GRCm38) critical splice acceptor site probably null
R1822:Abca8b UTSW 11 109,957,075 (GRCm38) missense possibly damaging 0.92
R1829:Abca8b UTSW 11 109,942,341 (GRCm38) missense probably damaging 0.97
R1873:Abca8b UTSW 11 109,979,955 (GRCm38) missense probably benign 0.01
R1899:Abca8b UTSW 11 109,937,918 (GRCm38) missense possibly damaging 0.92
R1908:Abca8b UTSW 11 109,957,098 (GRCm38) missense possibly damaging 0.92
R1962:Abca8b UTSW 11 109,979,898 (GRCm38) missense probably benign 0.00
R1984:Abca8b UTSW 11 109,977,841 (GRCm38) missense probably damaging 1.00
R2035:Abca8b UTSW 11 109,957,106 (GRCm38) missense possibly damaging 0.94
R2092:Abca8b UTSW 11 109,966,708 (GRCm38) missense possibly damaging 0.63
R2100:Abca8b UTSW 11 109,937,782 (GRCm38) missense probably damaging 1.00
R2267:Abca8b UTSW 11 109,955,148 (GRCm38) missense probably benign 0.03
R2871:Abca8b UTSW 11 109,955,176 (GRCm38) missense possibly damaging 0.83
R2871:Abca8b UTSW 11 109,955,176 (GRCm38) missense possibly damaging 0.83
R2872:Abca8b UTSW 11 109,955,176 (GRCm38) missense possibly damaging 0.83
R2872:Abca8b UTSW 11 109,955,176 (GRCm38) missense possibly damaging 0.83
R2873:Abca8b UTSW 11 109,955,176 (GRCm38) missense possibly damaging 0.83
R3711:Abca8b UTSW 11 109,946,255 (GRCm38) missense possibly damaging 0.46
R3937:Abca8b UTSW 11 109,974,567 (GRCm38) missense probably benign 0.01
R4052:Abca8b UTSW 11 109,981,725 (GRCm38) nonsense probably null
R4060:Abca8b UTSW 11 109,957,201 (GRCm38) missense probably benign 0.04
R4207:Abca8b UTSW 11 109,981,725 (GRCm38) nonsense probably null
R4208:Abca8b UTSW 11 109,981,725 (GRCm38) nonsense probably null
R4354:Abca8b UTSW 11 109,971,692 (GRCm38) missense probably benign 0.27
R4399:Abca8b UTSW 11 109,936,385 (GRCm38) missense possibly damaging 0.66
R4456:Abca8b UTSW 11 109,942,245 (GRCm38) missense probably benign 0.27
R4509:Abca8b UTSW 11 109,966,755 (GRCm38) missense probably damaging 1.00
R4672:Abca8b UTSW 11 109,936,448 (GRCm38) missense possibly damaging 0.81
R4868:Abca8b UTSW 11 109,974,512 (GRCm38) missense probably benign 0.05
R5002:Abca8b UTSW 11 109,961,797 (GRCm38) missense probably damaging 0.96
R5007:Abca8b UTSW 11 109,936,764 (GRCm38) missense probably damaging 1.00
R5014:Abca8b UTSW 11 109,950,131 (GRCm38) missense probably damaging 0.98
R5023:Abca8b UTSW 11 109,974,988 (GRCm38) critical splice donor site probably null
R5091:Abca8b UTSW 11 109,936,384 (GRCm38) missense possibly damaging 0.92
R5098:Abca8b UTSW 11 109,957,118 (GRCm38) missense probably benign 0.05
R5117:Abca8b UTSW 11 109,966,803 (GRCm38) missense probably damaging 1.00
R5234:Abca8b UTSW 11 109,976,594 (GRCm38) missense possibly damaging 0.90
R5302:Abca8b UTSW 11 109,977,813 (GRCm38) missense probably damaging 1.00
R5487:Abca8b UTSW 11 109,953,514 (GRCm38) missense probably damaging 0.99
R5512:Abca8b UTSW 11 109,977,813 (GRCm38) missense probably damaging 1.00
R5564:Abca8b UTSW 11 109,934,581 (GRCm38) missense probably benign 0.08
R5610:Abca8b UTSW 11 109,977,813 (GRCm38) missense probably damaging 1.00
R5677:Abca8b UTSW 11 109,940,861 (GRCm38) missense probably damaging 1.00
R5723:Abca8b UTSW 11 109,953,619 (GRCm38) missense possibly damaging 0.90
R5827:Abca8b UTSW 11 109,977,813 (GRCm38) missense probably damaging 1.00
R5829:Abca8b UTSW 11 109,977,813 (GRCm38) missense probably damaging 1.00
R5848:Abca8b UTSW 11 109,977,813 (GRCm38) missense probably damaging 1.00
R5849:Abca8b UTSW 11 109,977,813 (GRCm38) missense probably damaging 1.00
R5850:Abca8b UTSW 11 109,977,813 (GRCm38) missense probably damaging 1.00
R5854:Abca8b UTSW 11 109,977,813 (GRCm38) missense probably damaging 1.00
R5982:Abca8b UTSW 11 109,953,597 (GRCm38) missense possibly damaging 0.80
R5994:Abca8b UTSW 11 109,949,766 (GRCm38) splice site probably null
R6035:Abca8b UTSW 11 109,971,860 (GRCm38) splice site probably null
R6035:Abca8b UTSW 11 109,971,860 (GRCm38) splice site probably null
R6050:Abca8b UTSW 11 109,977,813 (GRCm38) missense probably damaging 1.00
R6145:Abca8b UTSW 11 109,973,808 (GRCm38) missense probably benign 0.03
R6223:Abca8b UTSW 11 109,977,846 (GRCm38) missense probably benign 0.00
R6349:Abca8b UTSW 11 109,934,718 (GRCm38) splice site probably null
R7002:Abca8b UTSW 11 109,941,564 (GRCm38) missense probably damaging 1.00
R7050:Abca8b UTSW 11 109,973,718 (GRCm38) missense possibly damaging 0.90
R7107:Abca8b UTSW 11 109,976,473 (GRCm38) missense probably damaging 0.98
R7158:Abca8b UTSW 11 109,934,589 (GRCm38) missense probably damaging 1.00
R7170:Abca8b UTSW 11 109,945,828 (GRCm38) missense probably benign 0.09
R7197:Abca8b UTSW 11 109,945,822 (GRCm38) nonsense probably null
R7220:Abca8b UTSW 11 109,981,717 (GRCm38) missense probably damaging 1.00
R7512:Abca8b UTSW 11 109,938,449 (GRCm38) missense probably benign 0.01
R7590:Abca8b UTSW 11 109,938,515 (GRCm38) missense probably damaging 0.97
R7658:Abca8b UTSW 11 109,935,717 (GRCm38) missense probably benign 0.00
R7739:Abca8b UTSW 11 109,974,591 (GRCm38) missense probably benign 0.05
R7797:Abca8b UTSW 11 109,971,683 (GRCm38) critical splice donor site probably null
R7934:Abca8b UTSW 11 109,975,039 (GRCm38) missense possibly damaging 0.75
R8074:Abca8b UTSW 11 109,938,494 (GRCm38) missense probably benign
R8302:Abca8b UTSW 11 109,962,580 (GRCm38) critical splice donor site probably null
R8341:Abca8b UTSW 11 109,955,050 (GRCm38) missense probably damaging 1.00
R8486:Abca8b UTSW 11 109,967,111 (GRCm38) missense possibly damaging 0.83
R8748:Abca8b UTSW 11 109,945,771 (GRCm38) missense probably damaging 1.00
R8924:Abca8b UTSW 11 109,947,177 (GRCm38) missense probably benign 0.00
R9002:Abca8b UTSW 11 109,952,630 (GRCm38) missense probably benign 0.02
R9032:Abca8b UTSW 11 109,957,247 (GRCm38) missense probably benign 0.04
R9099:Abca8b UTSW 11 109,980,882 (GRCm38) missense probably damaging 1.00
R9124:Abca8b UTSW 11 109,937,767 (GRCm38) missense probably damaging 0.97
R9178:Abca8b UTSW 11 109,950,111 (GRCm38) missense probably benign 0.00
R9188:Abca8b UTSW 11 109,981,735 (GRCm38) nonsense probably null
R9277:Abca8b UTSW 11 109,976,521 (GRCm38) missense probably damaging 0.99
R9340:Abca8b UTSW 11 109,950,113 (GRCm38) missense probably benign 0.43
R9371:Abca8b UTSW 11 109,967,672 (GRCm38) missense probably damaging 1.00
R9382:Abca8b UTSW 11 109,979,885 (GRCm38) missense probably benign
R9450:Abca8b UTSW 11 109,969,104 (GRCm38) missense probably damaging 0.98
R9462:Abca8b UTSW 11 109,953,607 (GRCm38) missense
R9712:Abca8b UTSW 11 109,942,337 (GRCm38) missense probably benign 0.30
Z1088:Abca8b UTSW 11 109,976,482 (GRCm38) missense probably benign 0.09
Z1176:Abca8b UTSW 11 109,974,644 (GRCm38) missense possibly damaging 0.87
Z1176:Abca8b UTSW 11 109,961,908 (GRCm38) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- TTGTTTTGTACCATACAGCAGC -3'
(R):5'- TCAAGGTAGGTGGTTCCCTG -3'

Sequencing Primer
(F):5'- GTACCATACAGCAGCTTTAGTAAC -3'
(R):5'- TAGGTGGTTCCCTGGGAGACC -3'
Posted On 2016-07-22