Incidental Mutation 'R4867:Abca6'
ID 376260
Institutional Source Beutler Lab
Gene Symbol Abca6
Ensembl Gene ENSMUSG00000044749
Gene Name ATP-binding cassette, sub-family A (ABC1), member 6
Synonyms 6330565N06Rik
MMRRC Submission 042477-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4867 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 110176820-110251776 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 110202379 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 1023 (V1023F)
Ref Sequence ENSEMBL: ENSMUSP00000035458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044003]
AlphaFold Q8K441
Predicted Effect probably benign
Transcript: ENSMUST00000044003
AA Change: V1023F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: V1023F

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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
2310022B05Rik T C 8: 124,639,360 (GRCm38) I215V probably damaging Het
4921509C19Rik A T 2: 151,472,822 (GRCm38) L312* probably null Het
9930111J21Rik1 T A 11: 48,948,548 (GRCm38) probably null Het
Ablim2 C T 5: 35,802,422 (GRCm38) R73C possibly damaging Het
Acsbg2 A G 17: 56,862,914 (GRCm38) I151T possibly damaging Het
Arhgap8 G T 15: 84,740,766 (GRCm38) L46F probably benign Het
Arid1a G A 4: 133,720,857 (GRCm38) S115L probably benign Het
B4galnt2 T C 11: 95,868,426 (GRCm38) D344G probably damaging Het
BC005561 T C 5: 104,521,002 (GRCm38) I1130T possibly damaging Het
Ccdc40 T C 11: 119,231,788 (GRCm38) S139P probably benign Het
Ccnjl T C 11: 43,583,228 (GRCm38) V210A possibly damaging Het
Cdk5rap1 C T 2: 154,370,956 (GRCm38) probably null Het
Cog4 T C 8: 110,866,610 (GRCm38) V451A probably damaging Het
Crb1 A T 1: 139,243,014 (GRCm38) N818K probably damaging Het
Crtc1 T C 8: 70,402,514 (GRCm38) D152G probably damaging Het
Cse1l T A 2: 166,926,403 (GRCm38) I207N possibly damaging Het
Cux1 TGGCAGGCGCG TG 5: 136,274,961 (GRCm38) probably benign Het
Cyp2j13 T C 4: 96,058,998 (GRCm38) Y272C possibly damaging Het
Cyp4f16 T C 17: 32,550,750 (GRCm38) F445L possibly damaging Het
Dlc1 T C 8: 36,584,645 (GRCm38) H644R probably benign Het
Ecm2 A T 13: 49,531,345 (GRCm38) I643F probably damaging Het
Eogt A T 6: 97,120,147 (GRCm38) probably benign Het
Fbxo41 A C 6: 85,475,194 (GRCm38) S777A probably benign Het
Fga T A 3: 83,028,644 (GRCm38) D59E probably benign Het
Flt3 A T 5: 147,334,440 (GRCm38) V897D probably damaging Het
Fmn1 G T 2: 113,584,120 (GRCm38) probably null Het
Frem3 T C 8: 80,613,283 (GRCm38) L735P probably damaging Het
Ftmt A T 18: 52,332,053 (GRCm38) D147V possibly damaging Het
Gabpa T A 16: 84,857,468 (GRCm38) D344E probably benign Het
Gm4788 A T 1: 139,774,475 (GRCm38) probably null Het
Gtf3a C T 5: 146,951,913 (GRCm38) Q145* probably null Het
Il1f5 A T 2: 24,280,835 (GRCm38) N48I probably damaging Het
Iqca A G 1: 90,089,504 (GRCm38) L403S probably benign Het
Jrk C T 15: 74,707,220 (GRCm38) R72Q probably benign Het
Kif19a G A 11: 114,767,227 (GRCm38) M37I probably benign Het
Krt12 T C 11: 99,416,963 (GRCm38) D433G possibly damaging Het
Lce1h A T 3: 92,763,463 (GRCm38) S127R unknown Het
Lrrc7 T G 3: 158,161,005 (GRCm38) Y1033S probably damaging Het
Macf1 A G 4: 123,472,200 (GRCm38) S1358P probably damaging Het
Mfsd1 T A 3: 67,587,987 (GRCm38) probably null Het
Mki67 T C 7: 135,699,856 (GRCm38) T1150A probably damaging Het
Nadk2 A G 15: 9,098,857 (GRCm38) I291M possibly damaging Het
Olfr309 T C 7: 86,306,283 (GRCm38) T277A probably benign Het
Olfr340 A C 2: 36,453,199 (GRCm38) M205L probably benign Het
Olfr456 A G 6: 42,487,097 (GRCm38) V32A probably benign Het
Olfr49 T A 14: 54,282,629 (GRCm38) T89S probably benign Het
Olfr829 A T 9: 18,857,566 (GRCm38) I305F probably benign Het
Parp14 T A 16: 35,857,327 (GRCm38) Y757F probably benign Het
Pcdh18 T C 3: 49,754,664 (GRCm38) Y734C probably damaging Het
Pcnx4 T C 12: 72,573,952 (GRCm38) S849P probably benign Het
Pds5a T C 5: 65,644,120 (GRCm38) K595E probably damaging Het
Prkg2 T A 5: 99,024,709 (GRCm38) Y49F probably benign Het
Ptgdr G T 14: 44,858,796 (GRCm38) P153Q probably damaging Het
Rbm12b2 T C 4: 12,094,805 (GRCm38) S555P probably damaging Het
Rhog T G 7: 102,240,150 (GRCm38) Y32S probably damaging Het
Rnf141 T C 7: 110,816,768 (GRCm38) T209A probably damaging Het
Rtkn2 T C 10: 68,001,927 (GRCm38) I103T probably damaging Het
Scn5a G T 9: 119,550,671 (GRCm38) C182* probably null Het
Sema3a A G 5: 13,451,241 (GRCm38) N84D probably benign Het
Sema5a G T 15: 32,550,290 (GRCm38) M158I possibly damaging Het
Shprh T A 10: 11,164,557 (GRCm38) D71E probably benign Het
Slc26a8 A G 17: 28,663,634 (GRCm38) I239T probably benign Het
Slco4c1 G A 1: 96,841,228 (GRCm38) P303L probably damaging Het
Ston1 C T 17: 88,635,694 (GRCm38) A176V probably damaging Het
Sult2a5 T C 7: 13,624,051 (GRCm38) S3P probably benign Het
Tango6 T A 8: 106,818,526 (GRCm38) V1007E probably damaging Het
Tank G A 2: 61,578,635 (GRCm38) probably benign Het
Tas2r124 A G 6: 132,755,193 (GRCm38) Y155C probably damaging Het
Tenm3 G A 8: 48,235,821 (GRCm38) R2244W probably damaging Het
Tlk1 A T 2: 70,721,571 (GRCm38) Y585* probably null Het
Tmem221 C T 8: 71,555,140 (GRCm38) E214K probably benign Het
Tmem38a T C 8: 72,581,233 (GRCm38) V172A possibly damaging Het
Tspo2 C T 17: 48,448,677 (GRCm38) A146T possibly damaging Het
Ttc3 G A 16: 94,454,515 (GRCm38) A1268T probably damaging Het
Usp25 T A 16: 77,050,467 (GRCm38) D154E probably damaging Het
Usp34 T C 11: 23,451,999 (GRCm38) F2410L probably benign Het
Vmn1r128 T A 7: 21,350,014 (GRCm38) H214Q possibly damaging Het
Vmn1r24 A C 6: 57,956,436 (GRCm38) C32W probably damaging Het
Zfp931 T A 2: 178,068,062 (GRCm38) H177L probably damaging Het
Znrf1 T C 8: 111,537,566 (GRCm38) probably null Het
Other mutations in Abca6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Abca6 APN 11 110,184,709 (GRCm38) missense probably damaging 1.00
IGL00569:Abca6 APN 11 110,187,049 (GRCm38) missense possibly damaging 0.88
IGL00737:Abca6 APN 11 110,196,997 (GRCm38) splice site probably benign
IGL01024:Abca6 APN 11 110,197,142 (GRCm38) missense probably benign
IGL01087:Abca6 APN 11 110,191,650 (GRCm38) missense probably benign 0.00
IGL01511:Abca6 APN 11 110,244,310 (GRCm38) missense probably benign 0.00
IGL01516:Abca6 APN 11 110,218,217 (GRCm38) missense possibly damaging 0.70
IGL01621:Abca6 APN 11 110,184,708 (GRCm38) missense probably damaging 1.00
IGL01749:Abca6 APN 11 110,244,224 (GRCm38) missense probably damaging 1.00
IGL01934:Abca6 APN 11 110,188,655 (GRCm38) missense probably benign 0.00
IGL02010:Abca6 APN 11 110,219,616 (GRCm38) missense probably benign 0.12
IGL02121:Abca6 APN 11 110,182,924 (GRCm38) missense probably benign 0.38
IGL02423:Abca6 APN 11 110,219,006 (GRCm38) splice site probably benign
IGL02428:Abca6 APN 11 110,178,792 (GRCm38) missense possibly damaging 0.81
IGL02491:Abca6 APN 11 110,176,968 (GRCm38) utr 3 prime probably benign
IGL02541:Abca6 APN 11 110,212,267 (GRCm38) missense probably damaging 1.00
IGL02792:Abca6 APN 11 110,188,681 (GRCm38) missense probably damaging 0.99
IGL02836:Abca6 APN 11 110,248,548 (GRCm38) missense probably damaging 1.00
IGL02965:Abca6 APN 11 110,180,613 (GRCm38) missense probably benign
IGL03094:Abca6 APN 11 110,184,112 (GRCm38) missense probably benign 0.03
IGL03109:Abca6 APN 11 110,180,347 (GRCm38) missense probably damaging 0.96
R0068:Abca6 UTSW 11 110,182,882 (GRCm38) missense probably damaging 1.00
R0142:Abca6 UTSW 11 110,188,641 (GRCm38) missense probably damaging 1.00
R0165:Abca6 UTSW 11 110,219,604 (GRCm38) missense possibly damaging 0.90
R0254:Abca6 UTSW 11 110,236,789 (GRCm38) missense probably benign 0.16
R0598:Abca6 UTSW 11 110,197,154 (GRCm38) missense probably damaging 1.00
R0992:Abca6 UTSW 11 110,211,684 (GRCm38) missense probably damaging 1.00
R1386:Abca6 UTSW 11 110,244,255 (GRCm38) missense probably benign 0.02
R1642:Abca6 UTSW 11 110,218,281 (GRCm38) missense possibly damaging 0.73
R1673:Abca6 UTSW 11 110,212,339 (GRCm38) missense probably benign 0.01
R1792:Abca6 UTSW 11 110,184,044 (GRCm38) missense probably benign 0.00
R1813:Abca6 UTSW 11 110,233,845 (GRCm38) splice site probably benign
R1817:Abca6 UTSW 11 110,219,318 (GRCm38) missense probably benign 0.00
R1842:Abca6 UTSW 11 110,197,039 (GRCm38) missense probably benign 0.00
R1898:Abca6 UTSW 11 110,208,799 (GRCm38) missense probably damaging 0.99
R1914:Abca6 UTSW 11 110,212,210 (GRCm38) missense probably benign 0.06
R1915:Abca6 UTSW 11 110,212,210 (GRCm38) missense probably benign 0.06
R1934:Abca6 UTSW 11 110,210,083 (GRCm38) critical splice donor site probably null
R1964:Abca6 UTSW 11 110,184,676 (GRCm38) missense probably damaging 0.98
R1967:Abca6 UTSW 11 110,187,148 (GRCm38) missense probably benign 0.09
R2127:Abca6 UTSW 11 110,219,649 (GRCm38) missense probably benign 0.00
R2128:Abca6 UTSW 11 110,219,649 (GRCm38) missense probably benign 0.00
R2164:Abca6 UTSW 11 110,210,193 (GRCm38) frame shift probably null
R2895:Abca6 UTSW 11 110,202,426 (GRCm38) missense probably benign 0.00
R3110:Abca6 UTSW 11 110,178,829 (GRCm38) nonsense probably null
R3111:Abca6 UTSW 11 110,178,829 (GRCm38) nonsense probably null
R3112:Abca6 UTSW 11 110,178,829 (GRCm38) nonsense probably null
R4094:Abca6 UTSW 11 110,180,366 (GRCm38) missense probably damaging 1.00
R4432:Abca6 UTSW 11 110,241,588 (GRCm38) missense probably benign 0.11
R4474:Abca6 UTSW 11 110,233,772 (GRCm38) missense possibly damaging 0.46
R4572:Abca6 UTSW 11 110,216,548 (GRCm38) missense probably benign 0.31
R4629:Abca6 UTSW 11 110,230,549 (GRCm38) critical splice acceptor site probably null
R4793:Abca6 UTSW 11 110,191,718 (GRCm38) missense probably benign
R4852:Abca6 UTSW 11 110,244,203 (GRCm38) missense probably benign 0.09
R4879:Abca6 UTSW 11 110,219,700 (GRCm38) missense probably damaging 0.98
R4918:Abca6 UTSW 11 110,180,551 (GRCm38) missense probably damaging 1.00
R5060:Abca6 UTSW 11 110,219,604 (GRCm38) missense possibly damaging 0.90
R5062:Abca6 UTSW 11 110,177,066 (GRCm38) missense probably benign 0.12
R5083:Abca6 UTSW 11 110,218,967 (GRCm38) missense probably damaging 1.00
R5173:Abca6 UTSW 11 110,191,720 (GRCm38) missense probably benign
R5393:Abca6 UTSW 11 110,244,295 (GRCm38) missense probably benign 0.00
R5484:Abca6 UTSW 11 110,184,073 (GRCm38) missense probably damaging 1.00
R5498:Abca6 UTSW 11 110,208,844 (GRCm38) missense possibly damaging 0.95
R5503:Abca6 UTSW 11 110,218,257 (GRCm38) missense probably damaging 1.00
R5645:Abca6 UTSW 11 110,250,408 (GRCm38) missense probably damaging 0.99
R5680:Abca6 UTSW 11 110,236,645 (GRCm38) missense possibly damaging 0.88
R5761:Abca6 UTSW 11 110,210,101 (GRCm38) missense probably damaging 1.00
R5779:Abca6 UTSW 11 110,184,670 (GRCm38) missense probably benign 0.37
R5818:Abca6 UTSW 11 110,219,643 (GRCm38) missense probably damaging 1.00
R6282:Abca6 UTSW 11 110,208,824 (GRCm38) missense probably damaging 0.98
R6455:Abca6 UTSW 11 110,241,581 (GRCm38) missense probably damaging 1.00
R6826:Abca6 UTSW 11 110,216,605 (GRCm38) missense probably benign 0.15
R6857:Abca6 UTSW 11 110,219,688 (GRCm38) missense possibly damaging 0.63
R6914:Abca6 UTSW 11 110,190,238 (GRCm38) missense probably benign
R6931:Abca6 UTSW 11 110,244,328 (GRCm38) missense probably benign 0.27
R7222:Abca6 UTSW 11 110,191,693 (GRCm38) missense probably benign 0.29
R7242:Abca6 UTSW 11 110,241,653 (GRCm38) missense possibly damaging 0.47
R7297:Abca6 UTSW 11 110,183,026 (GRCm38) critical splice donor site probably null
R7387:Abca6 UTSW 11 110,202,420 (GRCm38) missense probably benign
R7420:Abca6 UTSW 11 110,250,477 (GRCm38) missense probably benign 0.24
R7494:Abca6 UTSW 11 110,208,745 (GRCm38) missense possibly damaging 0.93
R7603:Abca6 UTSW 11 110,180,258 (GRCm38) missense possibly damaging 0.69
R7637:Abca6 UTSW 11 110,218,952 (GRCm38) missense probably benign 0.00
R7674:Abca6 UTSW 11 110,219,297 (GRCm38) missense probably damaging 1.00
R7753:Abca6 UTSW 11 110,184,107 (GRCm38) missense probably damaging 1.00
R7800:Abca6 UTSW 11 110,187,872 (GRCm38) missense probably benign 0.00
R7842:Abca6 UTSW 11 110,196,697 (GRCm38) missense possibly damaging 0.76
R7855:Abca6 UTSW 11 110,191,628 (GRCm38) missense probably benign 0.01
R8119:Abca6 UTSW 11 110,197,104 (GRCm38) missense probably benign 0.00
R8139:Abca6 UTSW 11 110,184,133 (GRCm38) missense probably damaging 1.00
R8176:Abca6 UTSW 11 110,244,194 (GRCm38) missense probably benign 0.01
R8179:Abca6 UTSW 11 110,245,274 (GRCm38) missense probably damaging 1.00
R8197:Abca6 UTSW 11 110,211,815 (GRCm38) missense probably damaging 0.99
R8241:Abca6 UTSW 11 110,188,630 (GRCm38) missense probably null 1.00
R8404:Abca6 UTSW 11 110,219,319 (GRCm38) missense probably damaging 0.99
R8429:Abca6 UTSW 11 110,202,382 (GRCm38) missense probably benign
R8502:Abca6 UTSW 11 110,219,319 (GRCm38) missense probably damaging 0.99
R8816:Abca6 UTSW 11 110,236,687 (GRCm38) missense probably benign 0.04
R8964:Abca6 UTSW 11 110,248,537 (GRCm38) missense probably benign 0.00
R9153:Abca6 UTSW 11 110,216,655 (GRCm38) missense possibly damaging 0.61
R9233:Abca6 UTSW 11 110,191,670 (GRCm38) missense probably benign 0.31
R9407:Abca6 UTSW 11 110,202,384 (GRCm38) nonsense probably null
R9412:Abca6 UTSW 11 110,212,233 (GRCm38) missense probably damaging 0.99
R9453:Abca6 UTSW 11 110,247,264 (GRCm38) critical splice donor site probably null
R9533:Abca6 UTSW 11 110,211,756 (GRCm38) missense probably benign 0.16
R9546:Abca6 UTSW 11 110,244,216 (GRCm38) nonsense probably null
R9650:Abca6 UTSW 11 110,180,620 (GRCm38) missense probably benign 0.32
R9702:Abca6 UTSW 11 110,216,552 (GRCm38) missense probably damaging 1.00
R9709:Abca6 UTSW 11 110,211,763 (GRCm38) missense probably benign 0.01
X0024:Abca6 UTSW 11 110,244,255 (GRCm38) missense probably benign 0.02
X0064:Abca6 UTSW 11 110,197,142 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCACCTAACTTTGAAGTAAGAACAG -3'
(R):5'- AGGTCCTAGAATATTCTCAGCTTC -3'

Sequencing Primer
(F):5'- TGGCCTACAGATTGAGTTCCAG -3'
(R):5'- CTTTTGTGTTTTGAGCTGAAGTCTCC -3'
Posted On 2016-03-17