Incidental Mutation 'R1673:Abca6'
ID 187840
Institutional Source Beutler Lab
Gene Symbol Abca6
Ensembl Gene ENSMUSG00000044749
Gene Name ATP-binding cassette, sub-family A member 6
Synonyms 6330565N06Rik
MMRRC Submission 039709-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1673 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 110067646-110142602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110103165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 809 (S809G)
Ref Sequence ENSEMBL: ENSMUSP00000035458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044003]
AlphaFold Q8K441
Predicted Effect probably benign
Transcript: ENSMUST00000044003
AA Change: S809G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: S809G

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4b1 T A 3: 103,725,161 (GRCm39) probably null Het
Aqp12 A G 1: 92,934,606 (GRCm39) Q161R possibly damaging Het
Atp8a2 A G 14: 60,028,689 (GRCm39) I926T probably benign Het
Cacna2d1 A T 5: 16,504,988 (GRCm39) N314I probably damaging Het
Cd209d A G 8: 3,927,113 (GRCm39) S81P probably damaging Het
Cdcp1 T A 9: 123,007,086 (GRCm39) K554* probably null Het
Celsr1 A G 15: 85,816,658 (GRCm39) Y1762H probably benign Het
Cklf A G 8: 104,983,983 (GRCm39) T49A possibly damaging Het
Col12a1 T G 9: 79,600,820 (GRCm39) I755L probably benign Het
Cts3 G A 13: 61,715,368 (GRCm39) Q140* probably null Het
Ddx1 A T 12: 13,294,967 (GRCm39) probably null Het
Dnah3 C A 7: 119,570,402 (GRCm39) E2262* probably null Het
Dnah5 A G 15: 28,290,294 (GRCm39) N1228S probably benign Het
Dsg1a G A 18: 20,464,561 (GRCm39) R352Q probably damaging Het
Efcab5 A G 11: 77,042,679 (GRCm39) F25L probably damaging Het
Efhd1 T A 1: 87,192,404 (GRCm39) V78D probably damaging Het
Eif5a2 T C 3: 28,847,967 (GRCm39) probably null Het
Elp2 T A 18: 24,744,983 (GRCm39) V101D possibly damaging Het
Enpp2 A T 15: 54,773,592 (GRCm39) probably null Het
F5 A G 1: 164,007,089 (GRCm39) T298A probably damaging Het
Fbxo21 G T 5: 118,146,129 (GRCm39) R584L probably benign Het
Fbxw22 G T 9: 109,211,196 (GRCm39) F368L possibly damaging Het
Gcn1 T C 5: 115,720,356 (GRCm39) I409T probably benign Het
Gm12887 T C 4: 121,473,655 (GRCm39) Y65C probably damaging Het
Gria4 G A 9: 4,537,637 (GRCm39) Q224* probably null Het
Hdac5 C T 11: 102,089,631 (GRCm39) V860M probably damaging Het
Ino80 G A 2: 119,212,417 (GRCm39) R1302C probably damaging Het
Kcns2 A T 15: 34,838,966 (GRCm39) I110F probably damaging Het
Lrig3 A G 10: 125,846,036 (GRCm39) T822A probably damaging Het
Mapk6 T C 9: 75,302,851 (GRCm39) D214G probably damaging Het
Mcm2 A T 6: 88,869,060 (GRCm39) L264Q probably benign Het
Mpnd A T 17: 56,317,455 (GRCm39) Y64F probably damaging Het
Muc1 T A 3: 89,139,079 (GRCm39) M520K possibly damaging Het
Muc4 T A 16: 32,577,276 (GRCm39) S189T probably benign Het
Myh13 T C 11: 67,242,945 (GRCm39) S953P possibly damaging Het
Ncf2 A T 1: 152,706,230 (GRCm39) M281L probably benign Het
Nipal2 A G 15: 34,648,841 (GRCm39) I116T probably damaging Het
Nptn T C 9: 58,531,015 (GRCm39) L46P probably benign Het
Or2b6 A T 13: 21,823,214 (GRCm39) S160T probably damaging Het
Or4k77 A G 2: 111,199,552 (GRCm39) T192A probably benign Het
Or51ag1 C A 7: 103,155,896 (GRCm39) V86F probably damaging Het
Or5ae1 T A 7: 84,565,325 (GRCm39) F113I probably damaging Het
Pgr A T 9: 8,902,069 (GRCm39) Y534F possibly damaging Het
Pip4k2a A T 2: 18,877,093 (GRCm39) probably null Het
Pkd1l2 C G 8: 117,767,514 (GRCm39) V1259L probably benign Het
Ppp1r12a A G 10: 108,085,426 (GRCm39) E457G probably damaging Het
Rasa4 T A 5: 136,133,491 (GRCm39) V650D probably benign Het
Rem2 C T 14: 54,713,766 (GRCm39) probably benign Het
Rps18-ps6 A T 13: 97,896,868 (GRCm39) Y77N possibly damaging Het
Sdc1 G A 12: 8,840,409 (GRCm39) R62Q possibly damaging Het
Sdk1 A G 5: 141,934,261 (GRCm39) E366G possibly damaging Het
Setd2 T A 9: 110,433,248 (GRCm39) H2406Q probably damaging Het
Slc30a5 A G 13: 100,949,891 (GRCm39) V397A probably benign Het
Slc36a2 A T 11: 55,075,739 (GRCm39) L16H possibly damaging Het
Slc44a1 T C 4: 53,542,468 (GRCm39) V334A probably benign Het
Sox8 A T 17: 25,786,456 (GRCm39) Y416N possibly damaging Het
Speg T C 1: 75,387,807 (GRCm39) V1416A possibly damaging Het
Stimate T C 14: 30,586,391 (GRCm39) L72S possibly damaging Het
Stk24 T A 14: 121,574,983 (GRCm39) I42F probably damaging Het
Tasor2 A G 13: 3,634,498 (GRCm39) probably null Het
Tcerg1 T A 18: 42,685,646 (GRCm39) L661Q possibly damaging Het
Tpp1 G A 7: 105,396,880 (GRCm39) R417W probably damaging Het
Trim12a T A 7: 103,955,264 (GRCm39) D153V possibly damaging Het
Trpm2 T C 10: 77,778,778 (GRCm39) N396S probably benign Het
Ttn T C 2: 76,637,427 (GRCm39) K5695R probably damaging Het
Ttn G A 2: 76,640,631 (GRCm39) R11960C probably damaging Het
Tulp3 A C 6: 128,310,906 (GRCm39) probably null Het
Uaca T A 9: 60,779,438 (GRCm39) L1273H probably damaging Het
Usp33 A G 3: 152,073,919 (GRCm39) E255G probably damaging Het
Vmn2r54 T G 7: 12,350,138 (GRCm39) probably null Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Wnt5b A T 6: 119,423,315 (GRCm39) F116L probably benign Het
Zbtb12 CTTCAT CTTCATTCAT 17: 35,115,284 (GRCm39) probably null Het
Zbtb12 TCATC TCATCCATC 17: 35,115,286 (GRCm39) probably null Het
Zfp408 G A 2: 91,476,353 (GRCm39) T367I probably damaging Het
Zfp512b G A 2: 181,230,286 (GRCm39) A480V possibly damaging Het
Zfp560 T C 9: 20,258,949 (GRCm39) T638A probably benign Het
Zfp932 G T 5: 110,156,854 (GRCm39) G151V probably damaging Het
Zpbp T C 11: 11,302,696 (GRCm39) K320E probably damaging Het
Zranb2 C T 3: 157,243,277 (GRCm39) P91L 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
IGL01621:Abca6 APN 11 110,075,534 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACAGGACCCTGATACTCACATGATCAA -3'
(R):5'- GACTGAGCATAGCCAAATTACCCCTTT -3'

Sequencing Primer
(F):5'- GATCAAAAATGCTTTTCTCTCTCG -3'
(R):5'- CTAAAGGTGGTGATGTTATACAAGC -3'
Posted On 2014-05-09