Incidental Mutation 'R0598:Abca6'
ID 55178
Institutional Source Beutler Lab
Gene Symbol Abca6
Ensembl Gene ENSMUSG00000044749
Gene Name ATP-binding cassette, sub-family A member 6
Synonyms 6330565N06Rik
MMRRC Submission 038787-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0598 (G1)
Quality Score 192
Status Not validated
Chromosome 11
Chromosomal Location 110067646-110142602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110087980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1049 (I1049N)
Ref Sequence ENSEMBL: ENSMUSP00000035458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044003]
AlphaFold Q8K441
Predicted Effect probably damaging
Transcript: ENSMUST00000044003
AA Change: I1049N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: I1049N

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: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,754,681 (GRCm39) E198D possibly damaging Het
Acly A T 11: 100,369,216 (GRCm39) N1014K probably damaging Het
Aoc1l1 A G 6: 48,952,471 (GRCm39) E132G probably benign Het
Aph1c A T 9: 66,740,601 (GRCm39) W42R probably damaging Het
Bptf G T 11: 106,963,791 (GRCm39) T1738K probably damaging Het
Cdhr2 A T 13: 54,874,552 (GRCm39) I875F probably damaging Het
Cpt2 G T 4: 107,764,135 (GRCm39) T543N probably damaging Het
Cstdc7 T A 18: 42,306,436 (GRCm39) M1K probably null Het
Dnah9 T C 11: 66,009,703 (GRCm39) E728G probably benign Het
Itgbl1 A G 14: 124,094,848 (GRCm39) H167R possibly damaging Het
Kctd1 A G 18: 15,140,822 (GRCm39) V40A probably damaging Het
L3mbtl4 T G 17: 68,766,768 (GRCm39) D158E probably benign Het
Lrp8 A C 4: 107,714,434 (GRCm39) I603L possibly damaging Het
Lypd8l G A 11: 58,499,230 (GRCm39) S196L probably benign Het
Mrps9 C T 1: 42,944,577 (GRCm39) T365I probably damaging Het
Or1a1 A T 11: 74,086,658 (GRCm39) T110S possibly damaging Het
Or1e1 G T 11: 73,244,729 (GRCm39) R50L probably benign Het
Or2y1d A G 11: 49,322,230 (GRCm39) D309G probably benign Het
Padi1 C A 4: 140,542,098 (GRCm39) R608L possibly damaging Het
Pkhd1 A T 1: 20,271,114 (GRCm39) F3146L probably damaging Het
Rnf145 T C 11: 44,439,770 (GRCm39) S189P probably damaging Het
Sez6 G T 11: 77,868,647 (GRCm39) D974Y possibly damaging Het
St3gal3 A T 4: 117,964,829 (GRCm39) L11Q probably benign Het
Syt14 T C 1: 192,579,622 (GRCm39) E554G probably damaging Het
Tectb G T 19: 55,178,018 (GRCm39) E170* probably null Het
Themis2 A T 4: 132,516,994 (GRCm39) C169S possibly damaging Het
Tmem88b A T 4: 155,868,824 (GRCm39) D141E probably benign Het
Uaca T A 9: 60,778,203 (GRCm39) Y685* probably null Het
Vsnl1 T C 12: 11,436,860 (GRCm39) S40G probably benign Het
Vxn T G 1: 9,690,067 (GRCm39) I98S probably benign Het
Wdr64 A T 1: 175,633,465 (GRCm39) Q905H 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
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
Predicted Primers PCR Primer
(F):5'- GCTGCACAGCCAAGTGCAAGAA -3'
(R):5'- caacaCAACCCTCCGCAGAAAGAA -3'

Sequencing Primer
(F):5'- CATCTGGAGGAGGTTTCACATTTAC -3'
(R):5'- tttgatccccattcctgaaaaac -3'
Posted On 2013-07-11