Incidental Mutation 'R7107:Abca8b'
ID 551268
Institutional Source Beutler Lab
Gene Symbol Abca8b
Ensembl Gene ENSMUSG00000020620
Gene Name ATP-binding cassette, sub-family A member 8b
Synonyms Abca8
MMRRC Submission 045199-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7107 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 109823016-109886671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109867299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 253 (L253S)
Ref Sequence ENSEMBL: ENSMUSP00000020948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020948] [ENSMUST00000106669]
AlphaFold Q8K440
Predicted Effect probably damaging
Transcript: ENSMUST00000020948
AA Change: L253S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620
AA Change: L253S

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: L253S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102280
Gene: ENSMUSG00000020620
AA Change: L253S

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (78/79)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,726,261 (GRCm39) E588G probably benign Het
Ahcy G A 2: 154,910,893 (GRCm39) A25V probably damaging Het
Ank2 A C 3: 126,797,631 (GRCm39) L710R probably damaging Het
Ap1b1 A G 11: 4,989,558 (GRCm39) T824A probably benign Het
Arap2 T A 5: 62,763,551 (GRCm39) H1531L probably damaging Het
Atosb A T 4: 43,036,434 (GRCm39) V99E probably benign Het
B3gnt7 T C 1: 86,233,495 (GRCm39) L247P probably damaging Het
Bcl6b A G 11: 70,117,396 (GRCm39) C409R probably damaging Het
Bicdl1 T C 5: 115,808,229 (GRCm39) H301R probably benign Het
Casc3 T A 11: 98,718,413 (GRCm39) I491N possibly damaging Het
Ccdc92b T A 11: 74,520,887 (GRCm39) L63Q probably damaging Het
Cep250 A G 2: 155,837,314 (GRCm39) T2319A probably benign Het
Chd1 T C 17: 15,981,628 (GRCm39) S1356P probably damaging Het
Chd8 A G 14: 52,450,129 (GRCm39) S1542P probably benign Het
Clec2m A G 6: 129,299,915 (GRCm39) C188R probably damaging Het
Cntnap4 A G 8: 113,542,120 (GRCm39) D751G probably damaging Het
Cpsf4l G A 11: 113,593,315 (GRCm39) R90C possibly damaging Het
Defa21 G A 8: 21,515,724 (GRCm39) A41T probably damaging Het
Dennd4a G T 9: 64,801,681 (GRCm39) L941F possibly damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dtx4 A T 19: 12,450,624 (GRCm39) C529* probably null Het
Entpd3 A G 9: 120,389,665 (GRCm39) Y317C probably damaging Het
Erp29 T A 5: 121,583,381 (GRCm39) I182F possibly damaging Het
Fam161a A G 11: 22,973,452 (GRCm39) R445G possibly damaging Het
Fam76a T A 4: 132,631,232 (GRCm39) M238L possibly damaging Het
Fn1 T C 1: 71,666,408 (GRCm39) Y875C probably damaging Het
Gnb2 A G 5: 137,528,444 (GRCm39) probably null Het
Hspg2 T C 4: 137,237,963 (GRCm39) S229P probably damaging Het
Ighv6-6 A G 12: 114,398,590 (GRCm39) S59P probably damaging Het
Itpkc C A 7: 26,927,702 (GRCm39) A71S probably benign Het
Kcnk10 G A 12: 98,485,002 (GRCm39) R45* probably null Het
Krcc1 A G 6: 71,261,198 (GRCm39) S77G probably benign Het
Lelp1 G A 3: 92,042,821 (GRCm39) T76I unknown Het
Lifr A T 15: 7,208,421 (GRCm39) I600F possibly damaging Het
Lrrk1 T A 7: 65,937,191 (GRCm39) D987V possibly damaging Het
Muc16 C T 9: 18,548,594 (GRCm39) D5900N probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myo9a A G 9: 59,778,098 (GRCm39) I1285V probably benign Het
Ndel1 T C 11: 68,713,474 (GRCm39) D321G possibly damaging Het
Nlrp4b T C 7: 10,449,144 (GRCm39) V449A probably damaging Het
Or10q12 A G 19: 13,746,525 (GRCm39) E273G probably benign Het
Or2r11 T C 6: 42,437,488 (GRCm39) N155S possibly damaging Het
Or2y1c T A 11: 49,361,261 (GRCm39) Y94* probably null Het
Or51k1 A T 7: 103,661,489 (GRCm39) L140Q probably benign Het
Or5k3 A C 16: 58,969,279 (GRCm39) D22A probably benign Het
Osbpl1a G A 18: 12,974,310 (GRCm39) R459* probably null Het
Pabpc1l A C 2: 163,884,399 (GRCm39) T379P probably damaging Het
Pde2a A T 7: 101,071,175 (GRCm39) Q15L probably benign Het
Pdk1 A G 2: 71,726,085 (GRCm39) N331S probably benign Het
Pfdn1 A T 18: 36,584,519 (GRCm39) probably null Het
Pnliprp1 T A 19: 58,717,582 (GRCm39) L9H probably damaging Het
Prl7a2 A T 13: 27,843,076 (GRCm39) D242E possibly damaging Het
Prmt9 T A 8: 78,294,880 (GRCm39) I408N possibly damaging Het
Psme4 G A 11: 30,798,105 (GRCm39) R1366H probably benign Het
Pstpip1 A T 9: 56,035,934 (GRCm39) D393V probably damaging Het
Rab5b A G 10: 128,519,062 (GRCm39) probably null Het
Rap1gap2 G A 11: 74,283,945 (GRCm39) R618C probably damaging Het
Rin1 A G 19: 5,100,801 (GRCm39) probably benign Het
Sall3 G A 18: 81,016,969 (GRCm39) P320S probably benign Het
Sdk1 A G 5: 142,067,471 (GRCm39) T1124A probably damaging Het
Sirpb1c T A 3: 15,892,941 (GRCm39) T88S possibly damaging Het
Slc35f6 T A 5: 30,814,121 (GRCm39) I189N probably damaging Het
Slc49a3 T A 5: 108,596,581 (GRCm39) probably null Het
Spata31d1e T A 13: 59,889,997 (GRCm39) R608* probably null Het
Spsb2 A T 6: 124,787,244 (GRCm39) Q226L probably benign Het
Stab2 T C 10: 86,741,456 (GRCm39) D1221G possibly damaging Het
Sugp1 G A 8: 70,522,800 (GRCm39) R500H probably benign Het
Syne1 A G 10: 5,082,078 (GRCm39) Y849H probably damaging Het
Tbck T A 3: 132,428,092 (GRCm39) I249N possibly damaging Het
Tdrd6 A C 17: 43,935,095 (GRCm39) F1984L probably benign Het
Tnxb T A 17: 34,890,314 (GRCm39) V219E unknown Het
Tpst1 T A 5: 130,143,344 (GRCm39) V294D probably damaging Het
Treml1 A G 17: 48,667,247 (GRCm39) Q44R probably damaging Het
Trrap G A 5: 144,733,945 (GRCm39) A933T probably benign Het
Vars2 A G 17: 35,969,142 (GRCm39) L853P probably damaging Het
Vmn1r10 A T 6: 57,090,615 (GRCm39) N69I possibly damaging Het
Vmn1r179 T A 7: 23,627,819 (GRCm39) Y3* probably null Het
Vmn2r38 T A 7: 9,093,728 (GRCm39) Y498F probably benign Het
Zc3h11a T C 1: 133,566,655 (GRCm39) T179A probably damaging Het
Zmym2 A G 14: 57,140,169 (GRCm39) T3A probably benign 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
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
R9712:Abca8b UTSW 11 109,833,163 (GRCm39) missense probably benign 0.30
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'- GTTCTTCACTTCAAGCAGAAAAGC -3'
(R):5'- ACCATTCAGTGATGGAGGAAC -3'

Sequencing Primer
(F):5'- TGGCAAACATTACACCAAGGTC -3'
(R):5'- CTGCTATCAGTGTCAGGGAAATTC -3'
Posted On 2019-05-15