Incidental Mutation 'R9153:Abca6'
ID 695167
Institutional Source Beutler Lab
Gene Symbol Abca6
Ensembl Gene ENSMUSG00000044749
Gene Name ATP-binding cassette, sub-family A member 6
Synonyms 6330565N06Rik
MMRRC Submission 068940-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9153 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 110067646-110142602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110107481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 711 (S711R)
Ref Sequence ENSEMBL: ENSMUSP00000035458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044003]
AlphaFold Q8K441
Predicted Effect possibly damaging
Transcript: ENSMUST00000044003
AA Change: S711R

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: S711R

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp C A 2: 168,026,580 (GRCm39) Q238H possibly damaging Het
Akap13 A G 7: 75,259,229 (GRCm39) T618A probably benign Het
Ankfn1 G A 11: 89,302,845 (GRCm39) R58W probably damaging Het
Atp8b5 A G 4: 43,308,493 (GRCm39) probably benign Het
Borcs5 G T 6: 134,618,108 (GRCm39) probably benign Het
C1s1 T C 6: 124,517,906 (GRCm39) M25V possibly damaging Het
Canx A T 11: 50,188,162 (GRCm39) D527E probably benign Het
Ccdc154 G A 17: 25,382,152 (GRCm39) D24N probably damaging Het
Ccnt1 G A 15: 98,441,159 (GRCm39) T703I probably benign Het
Cd46 T C 1: 194,774,479 (GRCm39) S19G possibly damaging Het
Cdc25b G A 2: 131,034,564 (GRCm39) E264K possibly damaging Het
Cdhr17 A T 5: 17,040,916 (GRCm39) probably null Het
Cog5 A C 12: 31,710,810 (GRCm39) K63N possibly damaging Het
Col28a1 G A 6: 8,022,765 (GRCm39) T726I probably benign Het
Dhx40 A G 11: 86,690,365 (GRCm39) S219P probably damaging Het
Dnah12 T A 14: 26,536,569 (GRCm39) W2162R probably damaging Het
Eef1a2 A G 2: 180,789,774 (GRCm39) *464R probably null Het
Eif1a T A 18: 46,741,036 (GRCm39) D90E probably damaging Het
Fasn C T 11: 120,706,496 (GRCm39) R996Q possibly damaging Het
Foxred2 A G 15: 77,839,787 (GRCm39) probably null Het
Frat2 A G 19: 41,835,806 (GRCm39) L182P probably damaging Het
Fxyd2 G T 9: 45,319,609 (GRCm39) V24F probably damaging Het
Gabrd C T 4: 155,470,496 (GRCm39) V319I probably damaging Het
H13 T G 2: 152,533,788 (GRCm39) V267G possibly damaging Het
Hnf4g T C 3: 3,573,378 (GRCm39) probably benign Het
Iglon5 T A 7: 43,125,421 (GRCm39) T272S possibly damaging Het
Iqgap2 T A 13: 95,844,547 (GRCm39) M454L probably benign Het
Irf8 T C 8: 121,480,400 (GRCm39) C304R probably benign Het
Itga2 A G 13: 115,001,941 (GRCm39) F614L probably benign Het
Itgb4 A C 11: 115,874,879 (GRCm39) H412P probably benign Het
Jarid2 T C 13: 45,064,678 (GRCm39) F921S probably damaging Het
Kctd13 A G 7: 126,541,327 (GRCm39) D189G probably damaging Het
Meis2 G T 2: 115,697,756 (GRCm39) P381T probably benign Het
Mertk G T 2: 128,624,487 (GRCm39) A633S probably damaging Het
Morn5 A G 2: 35,942,993 (GRCm39) Y31C probably damaging Het
Mug2 A T 6: 122,017,627 (GRCm39) T455S possibly damaging Het
Myo3a A G 2: 22,404,744 (GRCm39) N700S probably benign Het
Nisch T C 14: 30,896,782 (GRCm39) T807A unknown Het
Nkx1-1 A T 5: 33,588,703 (GRCm39) V195E unknown Het
Numa1 A G 7: 101,649,118 (GRCm39) T950A probably benign Het
Nup160 A G 2: 90,514,429 (GRCm39) T126A possibly damaging Het
Oca2 C T 7: 55,943,586 (GRCm39) T253I probably benign Het
Odad2 T C 18: 7,286,733 (GRCm39) K166R possibly damaging Het
Or6c209 T A 10: 129,483,306 (GRCm39) I103N possibly damaging Het
P4ha1 A G 10: 59,203,112 (GRCm39) K435R probably damaging Het
Pcdhgb4 T A 18: 37,854,131 (GRCm39) N175K possibly damaging Het
Per3 A G 4: 151,111,796 (GRCm39) L396P probably benign Het
Phactr3 A T 2: 177,925,739 (GRCm39) E338V possibly damaging Het
Plec G T 15: 76,064,725 (GRCm39) R1782S unknown Het
Prpf39 A T 12: 65,106,671 (GRCm39) Q593L probably damaging Het
Ptprq T C 10: 107,416,126 (GRCm39) Y1724C probably damaging Het
Pygo1 T A 9: 72,852,143 (GRCm39) V110D possibly damaging Het
Rasgrf1 T A 9: 89,826,790 (GRCm39) L133Q probably damaging Het
Rgs10 G A 7: 127,975,733 (GRCm39) R145C probably damaging Het
Secisbp2 A G 13: 51,833,855 (GRCm39) Y665C possibly damaging Het
Sel1l3 T A 5: 53,293,188 (GRCm39) T843S probably benign Het
Senp7 G A 16: 56,006,486 (GRCm39) V964I probably benign Het
Setd4 T A 16: 93,384,722 (GRCm39) D322V possibly damaging Het
Sftpc T A 14: 70,759,650 (GRCm39) T90S probably benign Het
Shq1 A T 6: 100,588,738 (GRCm39) D382E probably damaging Het
Sim1 A G 10: 50,772,029 (GRCm39) R13G probably damaging Het
Slc12a1 T G 2: 125,002,989 (GRCm39) probably benign Het
Slc27a6 T C 18: 58,731,805 (GRCm39) F385S probably benign Het
Stk38l A G 6: 146,660,048 (GRCm39) T27A probably benign Het
Tasp1 A G 2: 139,899,327 (GRCm39) S9P probably damaging Het
Tcstv1a T A 13: 120,355,290 (GRCm39) D114V probably damaging Het
Tmigd1 A T 11: 76,795,468 (GRCm39) R25S probably benign Het
Tnrc6a T A 7: 122,773,519 (GRCm39) Y1154N probably damaging Het
Tox2 T C 2: 163,045,091 (GRCm39) V3A Het
Ubr1 A T 2: 120,756,469 (GRCm39) D719E probably benign Het
Ubr3 A G 2: 69,795,822 (GRCm39) K923R Het
Vmn2r12 C T 5: 109,234,203 (GRCm39) V670M probably damaging Het
Zfp983 T C 17: 21,876,522 (GRCm39) S9P probably benign Het
Zfp986 A T 4: 145,626,030 (GRCm39) H230L probably damaging Het
Zscan4f G A 7: 11,135,241 (GRCm39) E216K probably benign 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
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
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'- CCCTGCTATTGATTGCACTGAC -3'
(R):5'- GAAGATTTTCAAGCTGCTGGATTAC -3'

Sequencing Primer
(F):5'- TGATTGCACTGACTAAGTAACACC -3'
(R):5'- TGAGTGTGTACATATCCTGTGTATAG -3'
Posted On 2022-01-20