Incidental Mutation 'R0432:Abca8b'
ID 38850
Institutional Source Beutler Lab
Gene Symbol Abca8b
Ensembl Gene ENSMUSG00000020620
Gene Name ATP-binding cassette, sub-family A member 8b
Synonyms Abca8
MMRRC Submission 038634-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0432 (G1)
Quality Score 219
Status Validated
Chromosome 11
Chromosomal Location 109823016-109886671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 109870841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 104 (V104F)
Ref Sequence ENSEMBL: ENSMUSP00000102280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020948] [ENSMUST00000106669]
AlphaFold Q8K440
Predicted Effect possibly damaging
Transcript: ENSMUST00000020948
AA Change: V104F

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620
AA Change: V104F

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 possibly damaging
Transcript: ENSMUST00000106669
AA Change: V104F

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102280
Gene: ENSMUSG00000020620
AA Change: V104F

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 0.1332 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 99% (91/92)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik A G 17: 36,206,708 (GRCm39) L110P probably damaging Het
4930522L14Rik A T 5: 109,884,785 (GRCm39) C358S probably damaging Het
Afap1l2 T C 19: 56,905,551 (GRCm39) probably benign Het
Ahctf1 A C 1: 179,611,726 (GRCm39) I548R probably damaging Het
Alox12b G T 11: 69,060,382 (GRCm39) G646V probably damaging Het
Aoah C T 13: 21,095,368 (GRCm39) probably benign Het
Arhgap39 C T 15: 76,619,086 (GRCm39) D833N probably damaging Het
Atxn1l A G 8: 110,458,325 (GRCm39) W646R probably damaging Het
Cabp2 T C 19: 4,134,903 (GRCm39) I28T possibly damaging Het
Cacna1b G A 2: 24,577,716 (GRCm39) T719I probably damaging Het
Camk1d A T 2: 5,449,946 (GRCm39) H70Q probably damaging Het
Car1 T C 3: 14,835,236 (GRCm39) T170A probably benign Het
Ccdc162 T C 10: 41,417,856 (GRCm39) T2113A probably benign Het
Cdc5l G A 17: 45,726,610 (GRCm39) R321W probably damaging Het
Cdh17 T A 4: 11,771,273 (GRCm39) C18* probably null Het
Cdk17 A T 10: 93,073,652 (GRCm39) probably benign Het
Chd9 T A 8: 91,721,078 (GRCm39) probably benign Het
Chrm5 T A 2: 112,310,000 (GRCm39) K372M possibly damaging Het
Clasp2 A G 9: 113,738,487 (GRCm39) T423A probably benign Het
Col11a1 A G 3: 113,999,550 (GRCm39) probably benign Het
Col27a1 T C 4: 63,143,848 (GRCm39) M512T possibly damaging Het
Dclk3 A G 9: 111,314,003 (GRCm39) D693G probably damaging Het
Dcun1d3 T A 7: 119,457,173 (GRCm39) K180* probably null Het
Dmxl2 T C 9: 54,324,235 (GRCm39) R876G probably benign Het
Dnmbp A T 19: 43,843,296 (GRCm39) Y432* probably null Het
Elapor2 G T 5: 9,490,966 (GRCm39) G659* probably null Het
Eml2 C T 7: 18,913,456 (GRCm39) Q125* probably null Het
Faap100 A C 11: 120,264,702 (GRCm39) probably benign Het
Foxp2 T C 6: 15,254,278 (GRCm39) probably benign Het
Gda A G 19: 21,394,471 (GRCm39) Y129H probably damaging Het
Gga3 G A 11: 115,481,350 (GRCm39) R207C probably damaging Het
Glg1 T C 8: 111,909,201 (GRCm39) I496M probably damaging Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gm10322 A T 10: 59,452,030 (GRCm39) H49L possibly damaging Het
Golga5 G T 12: 102,442,467 (GRCm39) V269F possibly damaging Het
Gramd2b G A 18: 56,607,141 (GRCm39) C85Y probably benign Het
Grhl1 C T 12: 24,632,918 (GRCm39) P153L probably benign Het
Hdac9 T C 12: 34,487,221 (GRCm39) Q60R probably damaging Het
Hdlbp T C 1: 93,353,054 (GRCm39) I414V probably damaging Het
Itpk1 C T 12: 102,572,337 (GRCm39) probably benign Het
Itsn1 T A 16: 91,612,408 (GRCm39) Y266N probably damaging Het
Lipe G A 7: 25,097,913 (GRCm39) P10L probably benign Het
Lrrc8a A G 2: 30,147,079 (GRCm39) E631G probably damaging Het
Lvrn T A 18: 47,038,366 (GRCm39) N973K possibly damaging Het
Man2c1 T A 9: 57,042,881 (GRCm39) H250Q probably damaging Het
Mup3 T C 4: 62,003,519 (GRCm39) T117A probably benign Het
Myo6 A C 9: 80,181,256 (GRCm39) probably benign Het
Nbn T A 4: 15,983,951 (GRCm39) probably benign Het
Ncapg T A 5: 45,829,770 (GRCm39) N157K probably damaging Het
Or4p7 C T 2: 88,222,377 (GRCm39) T262I probably damaging Het
Or5an1 T A 19: 12,261,267 (GRCm39) M285K probably damaging Het
Or5m12 T A 2: 85,734,501 (GRCm39) N299I probably damaging Het
Or5w14 G A 2: 87,541,774 (GRCm39) H159Y probably benign Het
Or9m1 T C 2: 87,733,304 (GRCm39) T239A probably damaging Het
P4ha1 T A 10: 59,184,079 (GRCm39) Y180* probably null Het
Pcdhb19 T A 18: 37,632,588 (GRCm39) F794L probably benign Het
Pdxdc1 T A 16: 13,672,264 (GRCm39) I379F probably damaging Het
Psme3 T A 11: 101,211,268 (GRCm39) S185T possibly damaging Het
Ptgr1 A G 4: 58,978,045 (GRCm39) S116P probably damaging Het
Ptpn23 A T 9: 110,218,078 (GRCm39) probably null Het
Rabgap1l A C 1: 160,549,775 (GRCm39) I277R probably benign Het
Rapgef1 C T 2: 29,569,828 (GRCm39) T93I possibly damaging Het
Rbp3 A T 14: 33,676,730 (GRCm39) D226V probably damaging Het
Rnf144a A T 12: 26,389,328 (GRCm39) C38S probably damaging Het
Rptor C T 11: 119,671,379 (GRCm39) Q281* probably null Het
Rragd T C 4: 33,004,332 (GRCm39) L208S probably damaging Het
Slc12a4 T C 8: 106,686,120 (GRCm39) E41G probably damaging Het
Slc16a1 G T 3: 104,560,735 (GRCm39) V347F probably benign Het
Slit1 G A 19: 41,731,732 (GRCm39) T39I probably damaging Het
Sra1 T C 18: 36,810,556 (GRCm39) N98S probably benign Het
Ssx2ip T C 3: 146,132,184 (GRCm39) L215P probably damaging Het
Syne2 A T 12: 75,995,838 (GRCm39) H2126L probably damaging Het
Tep1 TTTCTTCTTCTT TTTCTTCTT 14: 51,104,280 (GRCm39) probably benign Het
Tgfbi T C 13: 56,780,004 (GRCm39) probably benign Het
Tmem232 T C 17: 65,563,498 (GRCm39) M632V probably damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Tnnt3 T G 7: 142,065,823 (GRCm39) D153E probably benign Het
Tnrc6b T A 15: 80,807,647 (GRCm39) probably benign Het
Tpsab1 A G 17: 25,562,798 (GRCm39) probably benign Het
Usp34 T A 11: 23,351,505 (GRCm39) V1431D probably damaging Het
Wdr49 G T 3: 75,357,329 (GRCm39) R285S possibly damaging Het
Wdr7 A G 18: 63,929,320 (GRCm39) Y1052C probably damaging Het
Zan A T 5: 137,380,578 (GRCm39) probably benign Het
Zfp652 G A 11: 95,654,565 (GRCm39) V323I possibly damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging Het
Zfp82 C T 7: 29,755,754 (GRCm39) E443K probably damaging Het
Zfp874b A G 13: 67,629,955 (GRCm39) S10P probably damaging Het
Zmynd19 A G 2: 24,848,134 (GRCm39) Y110C 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
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
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'- CACATGTCAACGTGAACAGGCATTTT -3'
(R):5'- TCGTCCTCTGACTTGTAGACTGAATGA -3'

Sequencing Primer
(F):5'- CTTATGAATGGGTCAACACCACTG -3'
(R):5'- GACATTTCAACATTGCCTCTCTC -3'
Posted On 2013-05-23