Incidental Mutation 'R7170:Abca8b'
ID 558207
Institutional Source Beutler Lab
Gene Symbol Abca8b
Ensembl Gene ENSMUSG00000020620
Gene Name ATP-binding cassette, sub-family A member 8b
Synonyms Abca8
MMRRC Submission 045332-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7170 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 109823016-109886671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109836654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1214 (T1214A)
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: T1214A

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620
AA Change: T1214A

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: T1152A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102280
Gene: ENSMUSG00000020620
AA Change: T1152A

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 0.1028 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 T C 7: 143,450,102 (GRCm39) S285P probably damaging Het
Adgrf5 G A 17: 43,757,029 (GRCm39) V708M possibly damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Ankrd7 T A 6: 18,868,389 (GRCm39) Y170* probably null Het
Aplp2 T C 9: 31,081,739 (GRCm39) D236G probably benign Het
Apoa5 T C 9: 46,181,437 (GRCm39) M171T probably benign Het
Bcas3 T C 11: 85,386,744 (GRCm39) V393A probably damaging Het
Ccdc47 T C 11: 106,093,304 (GRCm39) N370S probably benign Het
Cfap77 A T 2: 28,875,854 (GRCm39) Y85* probably null Het
Col4a3 G A 1: 82,693,630 (GRCm39) probably null Het
Crnn T A 3: 93,056,020 (GRCm39) S269T possibly damaging Het
Crocc2 G A 1: 93,121,704 (GRCm39) A618T possibly damaging Het
D030056L22Rik A G 19: 18,690,737 (GRCm39) K17R possibly damaging Het
Emx1 G A 6: 85,164,983 (GRCm39) G20D probably benign Het
Fabp3 A G 4: 130,207,763 (GRCm39) D88G probably benign Het
Fam124a A C 14: 62,824,629 (GRCm39) D41A probably damaging Het
Fanca T C 8: 123,997,945 (GRCm39) E1247G probably damaging Het
Fat3 T C 9: 15,917,870 (GRCm39) R1518G probably damaging Het
Fgf12 T C 16: 28,263,931 (GRCm39) I5V probably benign Het
Fscn2 C A 11: 120,253,335 (GRCm39) N267K probably damaging Het
Ftdc1 G T 16: 58,436,091 (GRCm39) C77* probably null Het
Fubp3 A G 2: 31,488,632 (GRCm39) T163A probably benign Het
Gask1a G T 9: 121,807,301 (GRCm39) A482S probably damaging Het
Gne A G 4: 44,040,361 (GRCm39) L601P possibly damaging Het
Gphn T C 12: 78,730,663 (GRCm39) V766A possibly damaging Het
Hsf1 G T 15: 76,384,221 (GRCm39) G402C probably damaging Het
Ift81 A T 5: 122,693,596 (GRCm39) Y604* probably null Het
Iqgap3 T A 3: 88,009,370 (GRCm39) I768N probably damaging Het
Kazald1 A T 19: 45,066,855 (GRCm39) D218V probably benign Het
Kmt2a T C 9: 44,722,018 (GRCm39) N3776D unknown Het
Ktn1 T C 14: 47,943,867 (GRCm39) L872S probably damaging Het
Lama3 T G 18: 12,537,133 (GRCm39) F259L probably benign Het
Mfsd6 A G 1: 52,701,547 (GRCm39) probably null Het
Mical3 A T 6: 120,950,694 (GRCm39) probably null Het
Mob3b A G 4: 35,083,839 (GRCm39) Y117H probably damaging Het
Mrpl2 G A 17: 46,959,181 (GRCm39) G95D probably damaging Het
Mstn A T 1: 53,105,554 (GRCm39) I299F probably damaging Het
Mta3 C T 17: 84,022,091 (GRCm39) R49W probably damaging Het
Mylk3 A G 8: 86,077,114 (GRCm39) F574L probably damaging Het
Naca T A 10: 127,875,990 (GRCm39) S341T unknown Het
Ncoa1 T C 12: 4,299,722 (GRCm39) D1401G probably benign Het
Nedd4 T A 9: 72,577,381 (GRCm39) Y69N probably benign Het
Nin T C 12: 70,091,013 (GRCm39) T801A Het
Nsd1 T A 13: 55,409,439 (GRCm39) L1336* probably null Het
Nudt16l2 C A 9: 105,020,600 (GRCm39) probably null Het
Oprk1 G A 1: 5,672,619 (GRCm39) R252H probably damaging Het
Or4c10b A T 2: 89,711,397 (GRCm39) T76S possibly damaging Het
Or4c10b A G 2: 89,711,185 (GRCm39) N5S probably benign Het
Or5w15 C T 2: 87,568,056 (GRCm39) G204D probably damaging Het
Pcdhga11 T C 18: 37,889,717 (GRCm39) F242L probably damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Pold1 T C 7: 44,191,572 (GRCm39) H138R possibly damaging Het
Ptprd A T 4: 75,990,199 (GRCm39) D504E probably benign Het
Rabgap1l A G 1: 160,472,935 (GRCm39) V501A probably damaging Het
Rimklb T C 6: 122,429,697 (GRCm39) N233S probably benign Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Rora T A 9: 69,280,472 (GRCm39) C348* probably null Het
Sdhaf3 T C 6: 6,956,043 (GRCm39) V6A probably benign Het
Serpina3m T A 12: 104,355,777 (GRCm39) L148Q probably damaging Het
Sik1 T C 17: 32,067,746 (GRCm39) D443G possibly damaging Het
Sim2 A G 16: 93,923,559 (GRCm39) T366A probably benign Het
Slc32a1 T C 2: 158,453,243 (GRCm39) F28L probably damaging Het
Sorbs1 A T 19: 40,314,573 (GRCm39) Y746* probably null Het
Speer4b T A 5: 27,703,821 (GRCm39) N106I possibly damaging Het
Sphkap A G 1: 83,243,706 (GRCm39) S1269P probably damaging Het
Tcf4 T C 18: 69,766,649 (GRCm39) V205A probably damaging Het
Thsd7a C T 6: 12,352,090 (GRCm39) R1035H Het
Tmprss11c A T 5: 86,385,478 (GRCm39) probably null Het
Trim50 A G 5: 135,396,365 (GRCm39) T438A probably benign Het
Ttc21a C T 9: 119,774,607 (GRCm39) P287L probably damaging Het
Ttc41 C T 10: 86,549,367 (GRCm39) S187L probably benign Het
Ttll3 C T 6: 113,390,839 (GRCm39) P807L probably benign Het
Ttn A C 2: 76,597,696 (GRCm39) V19739G probably benign Het
Usp15 C A 10: 123,007,100 (GRCm39) C127F probably damaging Het
Vmn2r100 G T 17: 19,752,233 (GRCm39) A822S probably benign Het
Zan A T 5: 137,461,756 (GRCm39) V1141D unknown Het
Zfp457 A T 13: 67,442,241 (GRCm39) C111* probably null Het
Zfp758 C T 17: 22,594,116 (GRCm39) Q201* probably null Het
Zkscan2 T C 7: 123,099,030 (GRCm39) E54G possibly 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
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'- ACATCATAGTCTTCTTTGGCTTGTG -3'
(R):5'- TGATTTCCAAATGTGCCAAGG -3'

Sequencing Primer
(F):5'- GAGTCTGTTAGCACCAGTACATC -3'
(R):5'- CATACTAAGGCAGTGATCG -3'
Posted On 2019-06-26