Incidental Mutation 'R5091:Abca8b'
ID 387766
Institutional Source Beutler Lab
Gene Symbol Abca8b
Ensembl Gene ENSMUSG00000020620
Gene Name ATP-binding cassette, sub-family A member 8b
Synonyms Abca8
MMRRC Submission 042680-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5091 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 109823016-109886671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 109827210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1466 (T1466K)
Ref Sequence ENSEMBL: ENSMUSP00000102280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020948] [ENSMUST00000106669]
AlphaFold Q8K440
Predicted Effect probably benign
Transcript: ENSMUST00000020948
AA Change: T1528K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620
AA Change: T1528K

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: T1466K

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102280
Gene: ENSMUSG00000020620
AA Change: T1466K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149226
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (67/70)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A G 13: 54,701,057 (GRCm39) S174P probably damaging Het
4931414P19Rik T C 14: 54,823,168 (GRCm39) E343G probably damaging Het
Abca14 T C 7: 119,851,497 (GRCm39) V825A probably damaging Het
Adcy8 A G 15: 64,678,553 (GRCm39) S467P probably damaging Het
Agbl4 T C 4: 110,976,237 (GRCm39) V198A possibly damaging Het
Agpat4 A G 17: 12,417,699 (GRCm39) K80R probably benign Het
Akap8 T C 17: 32,535,208 (GRCm39) T269A probably benign Het
Ankhd1 A T 18: 36,758,080 (GRCm39) I925F possibly damaging Het
Aste1 A G 9: 105,282,203 (GRCm39) Y57C probably damaging Het
Axdnd1 A G 1: 156,247,980 (GRCm39) S7P possibly damaging Het
BC051019 T A 7: 109,319,789 (GRCm39) R91S probably null Het
Cavin2 C A 1: 51,340,398 (GRCm39) N358K probably benign Het
Cd2 T C 3: 101,190,355 (GRCm39) N196S probably benign Het
Clca3a1 C T 3: 144,436,483 (GRCm39) V867I probably benign Het
Col6a4 T A 9: 105,952,262 (GRCm39) K545N probably damaging Het
Cps1 T A 1: 67,268,679 (GRCm39) probably null Het
Cyp2c65 A T 19: 39,076,009 (GRCm39) probably null Het
Dcaf6 T C 1: 165,157,572 (GRCm39) D856G possibly damaging Het
Epcam T C 17: 87,949,580 (GRCm39) I181T probably damaging Het
Esrp2 A G 8: 106,859,061 (GRCm39) S562P probably damaging Het
Fcgbpl1 A C 7: 27,856,383 (GRCm39) I2057L probably benign Het
Ffar4 A G 19: 38,085,627 (GRCm39) D18G probably benign Het
Gen1 C T 12: 11,296,347 (GRCm39) V337I probably damaging Het
Gimap8 C T 6: 48,633,581 (GRCm39) P467S possibly damaging Het
Gnl3 T A 14: 30,738,803 (GRCm39) H82L possibly damaging Het
Grid2 T C 6: 64,053,862 (GRCm39) S354P probably benign Het
Ighmbp2 T A 19: 3,315,084 (GRCm39) T779S possibly damaging Het
Ints15 C T 5: 143,293,443 (GRCm39) E345K possibly damaging Het
Kif19a C A 11: 114,673,923 (GRCm39) T348N probably damaging Het
Lrrc15 T A 16: 30,092,172 (GRCm39) N389I probably damaging Het
Mrps26 A G 2: 130,405,886 (GRCm39) Y63C probably damaging Het
Myd88 C A 9: 119,166,889 (GRCm39) V223F possibly damaging Het
Nox4 T A 7: 87,025,450 (GRCm39) W526R probably damaging Het
Nrg2 A T 18: 36,185,838 (GRCm39) N300K probably damaging Het
Nsmf T C 2: 24,950,464 (GRCm39) probably benign Het
Patl2 A C 2: 121,954,283 (GRCm39) H429Q probably benign Het
Pcdhb12 A T 18: 37,568,907 (GRCm39) K18* probably null Het
Peg10 T A 6: 4,754,511 (GRCm39) D97E probably benign Het
Runx1t1 C T 4: 13,846,830 (GRCm39) Q205* probably null Het
Selenon T C 4: 134,275,284 (GRCm39) K138R probably damaging Het
Slc13a3 T C 2: 165,262,000 (GRCm39) E369G probably benign Het
Sorcs1 A G 19: 50,248,190 (GRCm39) probably null Het
Sptbn4 A T 7: 27,068,816 (GRCm39) M499K probably damaging Het
Sra1 A T 18: 36,803,012 (GRCm39) probably benign Het
Stra6 T C 9: 58,048,429 (GRCm39) L174P probably damaging Het
Syngr1 T C 15: 80,000,086 (GRCm39) Y66H probably damaging Het
Synpo G T 18: 60,735,831 (GRCm39) S466* probably null Het
Tenm3 T A 8: 48,795,343 (GRCm39) M595L probably benign Het
Tnks T C 8: 35,308,963 (GRCm39) T1099A probably benign Het
Tram1l1 G T 3: 124,115,400 (GRCm39) V187F possibly damaging Het
Trappc11 T C 8: 47,965,639 (GRCm39) E529G probably benign Het
Usp17la T C 7: 104,510,139 (GRCm39) V248A probably damaging Het
Virma T C 4: 11,519,392 (GRCm39) Y880H probably benign Het
Vmn1r214 C T 13: 23,219,571 (GRCm39) T355I possibly damaging Het
Vmn2r7 T C 3: 64,598,205 (GRCm39) K784R possibly damaging Het
Wrap53 C T 11: 69,453,273 (GRCm39) W389* probably null Het
Zfp748 A G 13: 67,689,638 (GRCm39) S541P 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
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'- CATAGCACATAGTAGGGCCAC -3'
(R):5'- AACAAGCTGAGGGTTTCAAACAC -3'

Sequencing Primer
(F):5'- CATAGTAGGGCCACAATATATGGTAC -3'
(R):5'- GGGTTTCAAACACTGCCAC -3'
Posted On 2016-06-06