Incidental Mutation 'R7387:Abca6'
ID 573200
Institutional Source Beutler Lab
Gene Symbol Abca6
Ensembl Gene ENSMUSG00000044749
Gene Name ATP-binding cassette, sub-family A member 6
Synonyms 6330565N06Rik
MMRRC Submission 045469-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7387 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 110067646-110142602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110093246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1009 (V1009A)
Ref Sequence ENSEMBL: ENSMUSP00000035458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044003]
AlphaFold Q8K441
Predicted Effect probably benign
Transcript: ENSMUST00000044003
AA Change: V1009A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: V1009A

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A G 4: 109,362,774 (GRCm39) Y182H probably damaging Het
Abcg2 A T 6: 58,666,609 (GRCm39) I573F possibly damaging Het
Adck1 A G 12: 88,427,822 (GRCm39) T480A probably benign Het
Adcy5 T C 16: 35,092,460 (GRCm39) I607T probably damaging Het
Add2 A G 6: 86,062,997 (GRCm39) K52E probably damaging Het
Arid4a T A 12: 71,134,270 (GRCm39) S1191T probably damaging Het
Atg2a G T 19: 6,305,198 (GRCm39) C1207F possibly damaging Het
Atg2b T C 12: 105,589,034 (GRCm39) D1875G probably damaging Het
B3gntl1 A G 11: 121,520,741 (GRCm39) L224P possibly damaging Het
BC035947 A G 1: 78,475,098 (GRCm39) V478A possibly damaging Het
Cachd1 T C 4: 100,634,375 (GRCm39) V17A unknown Het
Cad T C 5: 31,219,284 (GRCm39) Y669H probably damaging Het
Ccdc110 A T 8: 46,395,233 (GRCm39) M375L probably benign Het
Cdc6 C T 11: 98,799,042 (GRCm39) probably benign Het
Cdhr4 T A 9: 107,874,111 (GRCm39) Y72* probably null Het
Cenpe T G 3: 134,952,798 (GRCm39) M1496R probably benign Het
Clec4a1 T G 6: 122,899,016 (GRCm39) C28W possibly damaging Het
Cma2 A G 14: 56,210,505 (GRCm39) N120S probably benign Het
Cped1 A T 6: 22,059,933 (GRCm39) I200L probably benign Het
Cpsf1 A T 15: 76,486,766 (GRCm39) S257T possibly damaging Het
Dnah6 G A 6: 73,189,595 (GRCm39) Q18* probably null Het
Dpp10 T C 1: 123,268,869 (GRCm39) E720G probably benign Het
Dus2 G A 8: 106,772,619 (GRCm39) R243Q probably damaging Het
Dync2h1 T C 9: 7,157,932 (GRCm39) N769S possibly damaging Het
Ece1 T A 4: 137,666,095 (GRCm39) I313N possibly damaging Het
Ern1 A T 11: 106,312,778 (GRCm39) V201E probably damaging Het
Exoc3l A G 8: 106,021,605 (GRCm39) L141P probably damaging Het
Fam168b G A 1: 34,858,789 (GRCm39) T131M probably damaging Het
Fez1 T C 9: 36,779,108 (GRCm39) F262L probably damaging Het
H2-DMa T C 17: 34,357,101 (GRCm39) Y200H probably damaging Het
H2-Eb1 T A 17: 34,533,207 (GRCm39) V143D probably damaging Het
Ighv1-39 G A 12: 114,878,488 (GRCm39) P28S probably benign Het
Inka1 C T 9: 107,861,626 (GRCm39) R230H probably damaging Het
Iqgap1 C T 7: 80,370,738 (GRCm39) V1544I probably benign Het
Itga10 A T 3: 96,560,094 (GRCm39) Q536L probably benign Het
Itih2 C T 2: 10,135,319 (GRCm39) E24K possibly damaging Het
Itsn2 A T 12: 4,689,781 (GRCm39) N618I probably damaging Het
Kcnd2 T A 6: 21,216,777 (GRCm39) S160R probably benign Het
Kif11 T A 19: 37,398,204 (GRCm39) F677I probably damaging Het
Ldlrad2 C T 4: 137,301,828 (GRCm39) C18Y probably damaging Het
Lrp4 T C 2: 91,306,959 (GRCm39) V360A probably benign Het
Lrrtm2 T C 18: 35,346,025 (GRCm39) T426A probably damaging Het
Mcidas T C 13: 113,130,622 (GRCm39) F40L probably benign Het
Med27 T A 2: 29,303,419 (GRCm39) L123Q possibly damaging Het
Mettl2 T C 11: 105,023,364 (GRCm39) V249A probably benign Het
Mllt6 C A 11: 97,565,426 (GRCm39) A592D probably benign Het
Mrps5 C T 2: 127,442,804 (GRCm39) T291I probably damaging Het
Muc16 T A 9: 18,553,016 (GRCm39) T4426S probably benign Het
Myh1 A T 11: 67,099,715 (GRCm39) M542L probably benign Het
Nlrp12 G T 7: 3,289,831 (GRCm39) A227D probably damaging Het
Nlrp14 T C 7: 106,782,314 (GRCm39) Y504H probably damaging Het
Nr1i2 T C 16: 38,086,442 (GRCm39) S8G probably benign Het
Ntrk2 A G 13: 59,133,793 (GRCm39) K524R probably damaging Het
Nup210 C T 6: 90,998,378 (GRCm39) probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or4c100 T A 2: 88,356,744 (GRCm39) Y272* probably null Het
Or52e4 T A 7: 104,706,297 (GRCm39) Y281* probably null Het
Or5h27 A T 16: 59,006,699 (GRCm39) I49N probably damaging Het
Patl1 A G 19: 11,911,094 (GRCm39) I525M probably benign Het
Pcnx3 A G 19: 5,723,364 (GRCm39) L1277P probably benign Het
Pelp1 G A 11: 70,287,425 (GRCm39) T461I probably damaging Het
Phf20 T C 2: 156,136,160 (GRCm39) C660R probably damaging Het
Pkd1l1 T A 11: 8,851,203 (GRCm39) Y1193F Het
Pknox2 G T 9: 36,868,364 (GRCm39) probably benign Het
Pml T C 9: 58,137,177 (GRCm39) T541A probably benign Het
Prss35 C T 9: 86,637,974 (GRCm39) T248I probably damaging Het
Rccd1 T A 7: 79,970,350 (GRCm39) N89I probably benign Het
Rcor3 T C 1: 191,821,824 (GRCm39) probably benign Het
Rreb1 A G 13: 38,131,040 (GRCm39) E16G unknown Het
Scgb2b12 T A 7: 32,026,060 (GRCm39) H44L probably benign Het
Sec23ip C T 7: 128,346,727 (GRCm39) probably benign Het
Sgsm1 A C 5: 113,411,566 (GRCm39) F720C probably damaging Het
Slc25a51 A T 4: 45,399,841 (GRCm39) F116L possibly damaging Het
Spats2l T C 1: 57,941,293 (GRCm39) V253A probably damaging Het
Spopl A T 2: 23,427,521 (GRCm39) F204I probably benign Het
Sqle G A 15: 59,202,603 (GRCm39) R519Q probably benign Het
Stil T G 4: 114,881,233 (GRCm39) H592Q probably benign Het
Strip1 T A 3: 107,533,046 (GRCm39) S201C probably damaging Het
Tcp11l1 C A 2: 104,530,275 (GRCm39) A70S possibly damaging Het
Tmem163 T C 1: 127,447,180 (GRCm39) probably null Het
Tmem184c A T 8: 78,324,559 (GRCm39) Y310* probably null Het
Tmem30c T C 16: 57,090,386 (GRCm39) N274D probably benign Het
Trim30c T A 7: 104,039,397 (GRCm39) I133F probably damaging Het
Vars1 C T 17: 35,223,768 (GRCm39) Q228* probably null Het
Zdbf2 G A 1: 63,343,198 (GRCm39) V526I possibly damaging Het
Zfp819 T G 7: 43,262,065 (GRCm39) probably null 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
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
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'- CCACCTAACTTTGAAGTAAGAACAG -3'
(R):5'- GATATCTCTTCAAAAGCCCTCTGC -3'

Sequencing Primer
(F):5'- CCTACAGATTGAGTTCCAGGCTAG -3'
(R):5'- GCCCTCTGCTTGTTCTTTTGG -3'
Posted On 2019-09-13