Incidental Mutation 'IGL01621:Abca6'
ID 92566
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abca6
Ensembl Gene ENSMUSG00000044749
Gene Name ATP-binding cassette, sub-family A member 6
Synonyms 6330565N06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01621
Quality Score
Status
Chromosome 11
Chromosomal Location 110067646-110142602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110075534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 1319 (L1319S)
Ref Sequence ENSEMBL: ENSMUSP00000035458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044003]
AlphaFold Q8K441
Predicted Effect probably damaging
Transcript: ENSMUST00000044003
AA Change: L1319S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: L1319S

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 28 416 1.4e-42 PFAM
low complexity region 484 495 N/A INTRINSIC
AAA 506 691 1.13e-6 SMART
transmembrane domain 854 876 N/A INTRINSIC
transmembrane domain 971 990 N/A INTRINSIC
transmembrane domain 1005 1027 N/A INTRINSIC
Blast:AAA 1041 1176 4e-21 BLAST
transmembrane domain 1191 1213 N/A INTRINSIC
low complexity region 1243 1254 N/A INTRINSIC
AAA 1312 1505 2.43e-6 SMART
Coding Region Coverage
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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Abca6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Abca6 APN 11 110,075,535 (GRCm39) missense probably damaging 1.00
IGL00569:Abca6 APN 11 110,077,875 (GRCm39) missense possibly damaging 0.88
IGL00737:Abca6 APN 11 110,087,823 (GRCm39) splice site probably benign
IGL01024:Abca6 APN 11 110,087,968 (GRCm39) missense probably benign
IGL01087:Abca6 APN 11 110,082,476 (GRCm39) missense probably benign 0.00
IGL01511:Abca6 APN 11 110,135,136 (GRCm39) missense probably benign 0.00
IGL01516:Abca6 APN 11 110,109,043 (GRCm39) missense possibly damaging 0.70
IGL01749:Abca6 APN 11 110,135,050 (GRCm39) missense probably damaging 1.00
IGL01934:Abca6 APN 11 110,079,481 (GRCm39) missense probably benign 0.00
IGL02010:Abca6 APN 11 110,110,442 (GRCm39) missense probably benign 0.12
IGL02121:Abca6 APN 11 110,073,750 (GRCm39) missense probably benign 0.38
IGL02423:Abca6 APN 11 110,109,832 (GRCm39) splice site probably benign
IGL02428:Abca6 APN 11 110,069,618 (GRCm39) missense possibly damaging 0.81
IGL02491:Abca6 APN 11 110,067,794 (GRCm39) utr 3 prime probably benign
IGL02541:Abca6 APN 11 110,103,093 (GRCm39) missense probably damaging 1.00
IGL02792:Abca6 APN 11 110,079,507 (GRCm39) missense probably damaging 0.99
IGL02836:Abca6 APN 11 110,139,374 (GRCm39) missense probably damaging 1.00
IGL02965:Abca6 APN 11 110,071,439 (GRCm39) missense probably benign
IGL03094:Abca6 APN 11 110,074,938 (GRCm39) missense probably benign 0.03
IGL03109:Abca6 APN 11 110,071,173 (GRCm39) missense probably damaging 0.96
R0068:Abca6 UTSW 11 110,073,708 (GRCm39) missense probably damaging 1.00
R0142:Abca6 UTSW 11 110,079,467 (GRCm39) missense probably damaging 1.00
R0165:Abca6 UTSW 11 110,110,430 (GRCm39) missense possibly damaging 0.90
R0254:Abca6 UTSW 11 110,127,615 (GRCm39) missense probably benign 0.16
R0598:Abca6 UTSW 11 110,087,980 (GRCm39) missense probably damaging 1.00
R0992:Abca6 UTSW 11 110,102,510 (GRCm39) missense probably damaging 1.00
R1386:Abca6 UTSW 11 110,135,081 (GRCm39) missense probably benign 0.02
R1642:Abca6 UTSW 11 110,109,107 (GRCm39) missense possibly damaging 0.73
R1673:Abca6 UTSW 11 110,103,165 (GRCm39) missense probably benign 0.01
R1792:Abca6 UTSW 11 110,074,870 (GRCm39) missense probably benign 0.00
R1813:Abca6 UTSW 11 110,124,671 (GRCm39) splice site probably benign
R1817:Abca6 UTSW 11 110,110,144 (GRCm39) missense probably benign 0.00
R1842:Abca6 UTSW 11 110,087,865 (GRCm39) missense probably benign 0.00
R1898:Abca6 UTSW 11 110,099,625 (GRCm39) missense probably damaging 0.99
R1914:Abca6 UTSW 11 110,103,036 (GRCm39) missense probably benign 0.06
R1915:Abca6 UTSW 11 110,103,036 (GRCm39) missense probably benign 0.06
R1934:Abca6 UTSW 11 110,100,909 (GRCm39) critical splice donor site probably null
R1964:Abca6 UTSW 11 110,075,502 (GRCm39) missense probably damaging 0.98
R1967:Abca6 UTSW 11 110,077,974 (GRCm39) missense probably benign 0.09
R2127:Abca6 UTSW 11 110,110,475 (GRCm39) missense probably benign 0.00
R2128:Abca6 UTSW 11 110,110,475 (GRCm39) missense probably benign 0.00
R2164:Abca6 UTSW 11 110,101,019 (GRCm39) frame shift probably null
R2895:Abca6 UTSW 11 110,093,252 (GRCm39) missense probably benign 0.00
R3110:Abca6 UTSW 11 110,069,655 (GRCm39) nonsense probably null
R3111:Abca6 UTSW 11 110,069,655 (GRCm39) nonsense probably null
R3112:Abca6 UTSW 11 110,069,655 (GRCm39) nonsense probably null
R4094:Abca6 UTSW 11 110,071,192 (GRCm39) missense probably damaging 1.00
R4432:Abca6 UTSW 11 110,132,414 (GRCm39) missense probably benign 0.11
R4474:Abca6 UTSW 11 110,124,598 (GRCm39) missense possibly damaging 0.46
R4572:Abca6 UTSW 11 110,107,374 (GRCm39) missense probably benign 0.31
R4629:Abca6 UTSW 11 110,121,375 (GRCm39) critical splice acceptor site probably null
R4793:Abca6 UTSW 11 110,082,544 (GRCm39) missense probably benign
R4852:Abca6 UTSW 11 110,135,029 (GRCm39) missense probably benign 0.09
R4867:Abca6 UTSW 11 110,093,205 (GRCm39) missense probably benign 0.01
R4879:Abca6 UTSW 11 110,110,526 (GRCm39) missense probably damaging 0.98
R4918:Abca6 UTSW 11 110,071,377 (GRCm39) missense probably damaging 1.00
R5060:Abca6 UTSW 11 110,110,430 (GRCm39) missense possibly damaging 0.90
R5062:Abca6 UTSW 11 110,067,892 (GRCm39) missense probably benign 0.12
R5083:Abca6 UTSW 11 110,109,793 (GRCm39) missense probably damaging 1.00
R5173:Abca6 UTSW 11 110,082,546 (GRCm39) missense probably benign
R5393:Abca6 UTSW 11 110,135,121 (GRCm39) missense probably benign 0.00
R5484:Abca6 UTSW 11 110,074,899 (GRCm39) missense probably damaging 1.00
R5498:Abca6 UTSW 11 110,099,670 (GRCm39) missense possibly damaging 0.95
R5503:Abca6 UTSW 11 110,109,083 (GRCm39) missense probably damaging 1.00
R5645:Abca6 UTSW 11 110,141,234 (GRCm39) missense probably damaging 0.99
R5680:Abca6 UTSW 11 110,127,471 (GRCm39) missense possibly damaging 0.88
R5761:Abca6 UTSW 11 110,100,927 (GRCm39) missense probably damaging 1.00
R5779:Abca6 UTSW 11 110,075,496 (GRCm39) missense probably benign 0.37
R5818:Abca6 UTSW 11 110,110,469 (GRCm39) missense probably damaging 1.00
R6282:Abca6 UTSW 11 110,099,650 (GRCm39) missense probably damaging 0.98
R6455:Abca6 UTSW 11 110,132,407 (GRCm39) missense probably damaging 1.00
R6826:Abca6 UTSW 11 110,107,431 (GRCm39) missense probably benign 0.15
R6857:Abca6 UTSW 11 110,110,514 (GRCm39) missense possibly damaging 0.63
R6914:Abca6 UTSW 11 110,081,064 (GRCm39) missense probably benign
R6931:Abca6 UTSW 11 110,135,154 (GRCm39) missense probably benign 0.27
R7222:Abca6 UTSW 11 110,082,519 (GRCm39) missense probably benign 0.29
R7242:Abca6 UTSW 11 110,132,479 (GRCm39) missense possibly damaging 0.47
R7297:Abca6 UTSW 11 110,073,852 (GRCm39) critical splice donor site probably null
R7387:Abca6 UTSW 11 110,093,246 (GRCm39) missense probably benign
R7420:Abca6 UTSW 11 110,141,303 (GRCm39) missense probably benign 0.24
R7494:Abca6 UTSW 11 110,099,571 (GRCm39) missense possibly damaging 0.93
R7603:Abca6 UTSW 11 110,071,084 (GRCm39) missense possibly damaging 0.69
R7637:Abca6 UTSW 11 110,109,778 (GRCm39) missense probably benign 0.00
R7674:Abca6 UTSW 11 110,110,123 (GRCm39) missense probably damaging 1.00
R7753:Abca6 UTSW 11 110,074,933 (GRCm39) missense probably damaging 1.00
R7800:Abca6 UTSW 11 110,078,698 (GRCm39) missense probably benign 0.00
R7842:Abca6 UTSW 11 110,087,523 (GRCm39) missense possibly damaging 0.76
R7855:Abca6 UTSW 11 110,082,454 (GRCm39) missense probably benign 0.01
R8119:Abca6 UTSW 11 110,087,930 (GRCm39) missense probably benign 0.00
R8139:Abca6 UTSW 11 110,074,959 (GRCm39) missense probably damaging 1.00
R8176:Abca6 UTSW 11 110,135,020 (GRCm39) missense probably benign 0.01
R8179:Abca6 UTSW 11 110,136,100 (GRCm39) missense probably damaging 1.00
R8197:Abca6 UTSW 11 110,102,641 (GRCm39) missense probably damaging 0.99
R8241:Abca6 UTSW 11 110,079,456 (GRCm39) missense probably null 1.00
R8404:Abca6 UTSW 11 110,110,145 (GRCm39) missense probably damaging 0.99
R8429:Abca6 UTSW 11 110,093,208 (GRCm39) missense probably benign
R8502:Abca6 UTSW 11 110,110,145 (GRCm39) missense probably damaging 0.99
R8816:Abca6 UTSW 11 110,127,513 (GRCm39) missense probably benign 0.04
R8964:Abca6 UTSW 11 110,139,363 (GRCm39) missense probably benign 0.00
R9153:Abca6 UTSW 11 110,107,481 (GRCm39) missense possibly damaging 0.61
R9233:Abca6 UTSW 11 110,082,496 (GRCm39) missense probably benign 0.31
R9407:Abca6 UTSW 11 110,093,210 (GRCm39) nonsense probably null
R9412:Abca6 UTSW 11 110,103,059 (GRCm39) missense probably damaging 0.99
R9453:Abca6 UTSW 11 110,138,090 (GRCm39) critical splice donor site probably null
R9533:Abca6 UTSW 11 110,102,582 (GRCm39) missense probably benign 0.16
R9546:Abca6 UTSW 11 110,135,042 (GRCm39) nonsense probably null
R9650:Abca6 UTSW 11 110,071,446 (GRCm39) missense probably benign 0.32
R9702:Abca6 UTSW 11 110,107,378 (GRCm39) missense probably damaging 1.00
R9709:Abca6 UTSW 11 110,102,589 (GRCm39) missense probably benign 0.01
X0024:Abca6 UTSW 11 110,135,081 (GRCm39) missense probably benign 0.02
X0064:Abca6 UTSW 11 110,087,968 (GRCm39) missense probably benign 0.01
Posted On 2013-12-09