Incidental Mutation 'R1386:Abca6'
ID 162361
Institutional Source Beutler Lab
Gene Symbol Abca6
Ensembl Gene ENSMUSG00000044749
Gene Name ATP-binding cassette, sub-family A member 6
Synonyms 6330565N06Rik
MMRRC Submission 039448-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1386 (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 110135081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 235 (I235V)
Ref Sequence ENSEMBL: ENSMUSP00000035458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044003]
AlphaFold Q8K441
Predicted Effect probably benign
Transcript: ENSMUST00000044003
AA Change: I235V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: I235V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150988
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 87.0%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 T C 7: 119,297,801 (GRCm39) I146T probably benign Het
Adgrv1 T C 13: 81,676,984 (GRCm39) N1949S probably benign Het
Afdn T C 17: 14,066,798 (GRCm39) V630A probably damaging Het
Amfr A G 8: 94,712,027 (GRCm39) V301A possibly damaging Het
Anapc16 T C 10: 59,832,279 (GRCm39) M45V probably benign Het
Ankrd12 T C 17: 66,290,375 (GRCm39) E1686G possibly damaging Het
Ap2m1 T G 16: 20,359,979 (GRCm39) H193Q probably damaging Het
Aplnr T C 2: 84,967,805 (GRCm39) W277R possibly damaging Het
Aspm C T 1: 139,406,710 (GRCm39) H1866Y possibly damaging Het
Aspm A G 1: 139,385,361 (GRCm39) E335G probably benign Het
Atp8b4 T A 2: 126,220,664 (GRCm39) D578V probably benign Het
Ccr1 T A 9: 123,763,999 (GRCm39) E177V probably benign Het
Cecr2 A G 6: 120,739,092 (GRCm39) E1245G probably damaging Het
Cep162 A T 9: 87,103,255 (GRCm39) C638S probably benign Het
Ces1b A T 8: 93,794,705 (GRCm39) I298N probably benign Het
Cfap47 C T X: 78,553,507 (GRCm39) V323I possibly damaging Het
Chdh T A 14: 29,753,391 (GRCm39) L100Q probably damaging Het
Chrnd T C 1: 87,120,312 (GRCm39) I156T probably damaging Het
Clpx G A 9: 65,234,170 (GRCm39) R605Q probably null Het
Cnga1 T A 5: 72,769,526 (GRCm39) K135* probably null Het
Col6a4 A T 9: 105,940,144 (GRCm39) V1262E probably benign Het
Cracr2b T C 7: 141,043,481 (GRCm39) L53P probably damaging Het
Crhr1 T C 11: 104,065,220 (GRCm39) S372P possibly damaging Het
Cyp11b2 T A 15: 74,723,624 (GRCm39) probably null Het
Cyp21a1 T A 17: 35,021,184 (GRCm39) D373V probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Ddah1 A T 3: 145,594,966 (GRCm39) Y242F probably benign Het
Dlgap3 A G 4: 127,088,719 (GRCm39) D105G possibly damaging Het
Dtl A G 1: 191,301,829 (GRCm39) V76A probably damaging Het
Dzank1 A G 2: 144,333,751 (GRCm39) S361P probably benign Het
Ehd3 T A 17: 74,127,538 (GRCm39) I157N probably damaging Het
Elk4 T C 1: 131,945,568 (GRCm39) F149L probably damaging Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Fam83a A G 15: 57,849,899 (GRCm39) R148G probably damaging Het
Farp2 C A 1: 93,547,873 (GRCm39) probably null Het
Fbxw25 T A 9: 109,483,709 (GRCm39) I168F possibly damaging Het
Fermt1 T C 2: 132,757,978 (GRCm39) D479G probably damaging Het
Fgf17 C A 14: 70,874,210 (GRCm39) R193L probably damaging Het
Foxred2 T G 15: 77,832,721 (GRCm39) probably null Het
Gad1 T C 2: 70,404,467 (GRCm39) V119A possibly damaging Het
Gas2l3 A G 10: 89,250,215 (GRCm39) V301A possibly damaging Het
Gimap8 G A 6: 48,633,587 (GRCm39) V469I probably benign Het
Gja1 A T 10: 56,264,065 (GRCm39) E141D probably benign Het
Glod4 C T 11: 76,112,829 (GRCm39) W268* probably null Het
Guf1 C T 5: 69,720,505 (GRCm39) H309Y probably benign Het
Hax1 A G 3: 89,903,156 (GRCm39) V215A probably damaging Het
Heatr9 T C 11: 83,409,651 (GRCm39) D107G probably benign Het
Hephl1 T A 9: 14,988,050 (GRCm39) Y686F probably benign Het
Hk3 T C 13: 55,154,843 (GRCm39) probably null Het
Ikbkb G T 8: 23,155,633 (GRCm39) Q620K possibly damaging Het
Il18rap C T 1: 40,570,682 (GRCm39) A208V probably benign Het
Kif26b T C 1: 178,743,209 (GRCm39) S1102P probably benign Het
Kif5b A T 18: 6,226,383 (GRCm39) D147E probably damaging Het
Klhl3 T C 13: 58,178,247 (GRCm39) T348A probably damaging Het
Krt10 T C 11: 99,276,746 (GRCm39) probably benign Het
Lama3 A T 18: 12,610,427 (GRCm39) H1124L probably benign Het
Lin7a A T 10: 107,247,983 (GRCm39) Q96L unknown Het
Ly6c2 T G 15: 74,982,438 (GRCm39) I37L probably benign Het
Mov10l1 A G 15: 88,895,589 (GRCm39) Y585C possibly damaging Het
Msr1 G A 8: 40,042,334 (GRCm39) Q414* probably null Het
Myh13 T C 11: 67,261,776 (GRCm39) C1900R possibly damaging Het
Obscn T A 11: 59,024,679 (GRCm39) N454Y probably damaging Het
Olfml2b T G 1: 170,508,731 (GRCm39) Y530D probably damaging Het
Or1ad1 T C 11: 50,876,194 (GRCm39) F222S probably damaging Het
Or4c11 T A 2: 88,695,697 (GRCm39) F249L probably benign Het
Or52s1b T A 7: 102,822,574 (GRCm39) H90L probably benign Het
Or5b24 A T 19: 12,912,503 (GRCm39) T134S probably benign Het
Or7e174 T A 9: 20,012,878 (GRCm39) N274K probably benign Het
Or8j3b A G 2: 86,205,265 (GRCm39) F164L probably damaging Het
Pde10a T G 17: 9,172,574 (GRCm39) V648G probably damaging Het
Pde7b T A 10: 20,294,547 (GRCm39) H258L probably damaging Het
Pik3cb A G 9: 98,946,080 (GRCm39) V582A possibly damaging Het
Plxnb1 T C 9: 108,930,091 (GRCm39) S316P probably benign Het
Pmpca C T 2: 26,282,530 (GRCm39) T246I probably damaging Het
Reep3 A T 10: 66,898,788 (GRCm39) V32D possibly damaging Het
Rfx4 A G 10: 84,699,149 (GRCm39) M252V probably damaging Het
Rnf168 C A 16: 32,117,781 (GRCm39) D447E probably damaging Het
Rnf31 T C 14: 55,834,221 (GRCm39) V518A probably damaging Het
Rnpc3 A T 3: 113,407,433 (GRCm39) L340* probably null Het
Scn2a A G 2: 65,519,085 (GRCm39) E437G probably damaging Het
Scnn1b C A 7: 121,501,711 (GRCm39) N175K possibly damaging Het
Slc39a11 T A 11: 113,138,550 (GRCm39) I344F probably benign Het
Slc9a2 T A 1: 40,758,178 (GRCm39) L239Q probably damaging Het
Smg5 T C 3: 88,262,978 (GRCm39) F794L probably damaging Het
Smim13 C T 13: 41,426,168 (GRCm39) S68L possibly damaging Het
Sos2 A T 12: 69,661,432 (GRCm39) Y680N probably damaging Het
Spag6 T A 2: 18,739,057 (GRCm39) M329K possibly damaging Het
Spire2 G A 8: 124,088,105 (GRCm39) probably null Het
Tdrd9 T A 12: 112,011,238 (GRCm39) V1149D probably benign Het
Tns3 T A 11: 8,468,261 (GRCm39) Y321F probably benign Het
Top3b T C 16: 16,698,493 (GRCm39) V112A probably benign Het
Trafd1 G A 5: 121,517,715 (GRCm39) T26I probably damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Vmn2r78 T C 7: 86,564,615 (GRCm39) L20S unknown Het
Vmn2r82 A T 10: 79,214,545 (GRCm39) D176V probably damaging Het
Vps13b T C 15: 35,923,458 (GRCm39) F3778L probably damaging Het
Vwa3b T C 1: 37,090,962 (GRCm39) probably null Het
Vwc2 C T 11: 11,104,262 (GRCm39) P265S probably damaging Het
Zbtb9 T A 17: 27,193,612 (GRCm39) I339N probably damaging Het
Zfp335 T C 2: 164,740,161 (GRCm39) T764A probably benign Het
Zfp366 T A 13: 99,383,063 (GRCm39) V742D probably damaging Het
Zfp709 A T 8: 72,644,506 (GRCm39) Y645F probably damaging Het
Zmym2 T A 14: 57,150,548 (GRCm39) C424S 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
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
Predicted Primers PCR Primer
(F):5'- TGAGCACGGACAACAAGTAGCC -3'
(R):5'- GTTCTGCAATGCTTCACAGAAGCC -3'

Sequencing Primer
(F):5'- AGTAGCCCACATGTCAAAGG -3'
(R):5'- tggactactacagcattccaac -3'
Posted On 2014-03-17