Incidental Mutation 'R6185:Abca1'
ID 502084
Institutional Source Beutler Lab
Gene Symbol Abca1
Ensembl Gene ENSMUSG00000015243
Gene Name ATP-binding cassette, sub-family A member 1
Synonyms ABC1
MMRRC Submission 044325-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6185 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 53030787-53159895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53078089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 894 (H894Q)
Ref Sequence ENSEMBL: ENSMUSP00000030010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030010]
AlphaFold P41233
Predicted Effect probably benign
Transcript: ENSMUST00000030010
AA Change: H894Q

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: H894Q

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Pfam:ABC2_membrane_3 395 841 4.9e-14 PFAM
AAA 925 1122 4.2e-10 SMART
low complexity region 1137 1150 N/A INTRINSIC
Pfam:ABC2_membrane_3 1344 1869 1.7e-53 PFAM
low complexity region 1890 1899 N/A INTRINSIC
AAA 1938 2123 3.04e-7 SMART
low complexity region 2176 2187 N/A INTRINSIC
low complexity region 2222 2237 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (80/83)
MGI Phenotype FUNCTION: 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, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. In humans, this protein functions as a cholesterol efflux pump in the cellular lipid removal pathway. Mutations in the human gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,919,789 (GRCm39) I1024F probably damaging Het
Acadl A G 1: 66,877,522 (GRCm39) V343A possibly damaging Het
Akr1e1 T A 13: 4,651,252 (GRCm39) I123L probably benign Het
Angptl2 T C 2: 33,119,026 (GRCm39) S267P probably benign Het
Ap2a1 T G 7: 44,565,594 (GRCm39) K91T probably damaging Het
Bend7 A T 2: 4,793,333 (GRCm39) Q379L probably damaging Het
Bicdl1 C T 5: 115,808,212 (GRCm39) probably null Het
Cachd1 C A 4: 100,838,228 (GRCm39) Y830* probably null Het
Ccdc158 T A 5: 92,814,713 (GRCm39) I38F possibly damaging Het
Cep97 T A 16: 55,735,455 (GRCm39) M448L probably benign Het
Chd9 A G 8: 91,775,765 (GRCm39) D2572G probably damaging Het
Clcnkb C T 4: 141,141,825 (GRCm39) V54M probably benign Het
Cln8 A G 8: 14,946,544 (GRCm39) D186G probably benign Het
Crxos C T 7: 15,636,805 (GRCm39) S22L possibly damaging Het
Cx3cr1 A T 9: 119,880,444 (GRCm39) H319Q probably benign Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Dmrta1 A G 4: 89,580,005 (GRCm39) R322G probably damaging Het
Dpf1 A G 7: 29,010,696 (GRCm39) E103G possibly damaging Het
Dsg1b T G 18: 20,532,543 (GRCm39) V529G probably benign Het
Dst G A 1: 34,212,161 (GRCm39) V1361I probably damaging Het
Epha4 T C 1: 77,483,743 (GRCm39) I89V probably damaging Het
Etfdh G T 3: 79,513,114 (GRCm39) H370N probably benign Het
Fam186a A G 15: 99,845,530 (GRCm39) I238T unknown Het
Fbxl5 T A 5: 43,978,894 (GRCm39) S19C probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fryl A G 5: 73,270,131 (GRCm39) V367A probably benign Het
Gm19410 T A 8: 36,274,664 (GRCm39) L1495H possibly damaging Het
Gm19965 A G 1: 116,749,003 (GRCm39) E228G possibly damaging Het
Gpr89 C A 3: 96,798,149 (GRCm39) C169F probably damaging Het
Hmcn1 A T 1: 150,491,189 (GRCm39) probably null Het
Hsph1 A T 5: 149,541,160 (GRCm39) C753S probably damaging Het
Igf2 T A 7: 142,212,118 (GRCm39) S4C possibly damaging Het
Kansl3 A T 1: 36,385,099 (GRCm39) S486T probably damaging Het
Khdrbs1 G C 4: 129,636,068 (GRCm39) probably benign Het
Lnx1 A T 5: 74,846,269 (GRCm39) C60* probably null Het
Lrpprc T C 17: 85,074,452 (GRCm39) D485G probably benign Het
Ly6i A T 15: 74,851,879 (GRCm39) S97T possibly damaging Het
Me2 G A 18: 73,924,199 (GRCm39) Q338* probably null Het
Med16 A T 10: 79,732,197 (GRCm39) L790Q probably damaging Het
Muc16 G T 9: 18,565,769 (GRCm39) T2250K unknown Het
Myo10 T G 15: 25,726,596 (GRCm39) F273C probably damaging Het
Neil3 T A 8: 54,052,182 (GRCm39) H472L probably benign Het
Nrxn1 T A 17: 90,344,564 (GRCm39) S57C probably damaging Het
Nup188 A T 2: 30,231,722 (GRCm39) T1439S probably damaging Het
Or10g3 T C 14: 52,610,019 (GRCm39) T164A possibly damaging Het
Or10g7 T C 9: 39,905,420 (GRCm39) F105L probably benign Het
Or5w10 A G 2: 87,375,087 (GRCm39) M267T possibly damaging Het
Otud7a T A 7: 63,408,133 (GRCm39) L812Q probably damaging Het
Paip2b C T 6: 83,786,952 (GRCm39) A95T probably benign Het
Pax4 C T 6: 28,446,347 (GRCm39) V49I probably damaging Het
Plek C T 11: 16,931,829 (GRCm39) A341T probably damaging Het
Prkag1 G A 15: 98,723,595 (GRCm39) P10L probably benign Het
R3hdm1 A C 1: 128,079,598 (GRCm39) D15A possibly damaging Het
Rad54b A T 4: 11,593,804 (GRCm39) D144V possibly damaging Het
Rmi2 C T 16: 10,704,073 (GRCm39) T138I probably benign Het
Sbf1 A G 15: 89,189,814 (GRCm39) L379P probably damaging Het
Sec14l3 A T 11: 4,025,244 (GRCm39) I285F probably damaging Het
Sec31b A T 19: 44,531,723 (GRCm39) I62N possibly damaging Het
Selp A G 1: 163,953,915 (GRCm39) N72D probably damaging Het
Sipa1l1 T A 12: 82,471,802 (GRCm39) S1261T probably damaging Het
Sipa1l2 A T 8: 126,194,992 (GRCm39) Y915* probably null Het
Slc22a27 A T 19: 7,903,953 (GRCm39) D61E probably benign Het
Slc2a7 A G 4: 150,233,450 (GRCm39) T8A probably benign Het
Slc5a2 T C 7: 127,870,349 (GRCm39) I529T probably damaging Het
Spart A C 3: 55,024,640 (GRCm39) Q78H probably damaging Het
Spocd1 T C 4: 129,850,242 (GRCm39) I756T probably benign Het
Stc1 G A 14: 69,275,813 (GRCm39) C202Y probably damaging Het
Stk10 A G 11: 32,527,749 (GRCm39) T166A probably benign Het
Syt6 A T 3: 103,492,844 (GRCm39) D32V probably damaging Het
Tanc1 T A 2: 59,621,929 (GRCm39) probably null Het
Tanc2 T A 11: 105,803,865 (GRCm39) N297K probably damaging Het
Telo2 A G 17: 25,321,014 (GRCm39) S734P probably benign Het
Tfrc T A 16: 32,437,090 (GRCm39) Y250N probably benign Het
Tmem97 C T 11: 78,434,388 (GRCm39) W65* probably null Het
Ubr3 T C 2: 69,768,621 (GRCm39) M476T probably damaging Het
Ubtf T C 11: 102,204,849 (GRCm39) T117A probably damaging Het
Usp17lb T A 7: 104,490,631 (GRCm39) M99L probably benign Het
Uvrag A C 7: 98,790,039 (GRCm39) probably null Het
Vmn2r63 A G 7: 42,578,435 (GRCm39) S153P probably damaging Het
Vmn2r90 A T 17: 17,953,644 (GRCm39) T603S probably damaging Het
Vps8 C A 16: 21,288,891 (GRCm39) L417I probably damaging Het
Other mutations in Abca1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Abca1 APN 4 53,059,255 (GRCm39) critical splice donor site probably null
IGL00778:Abca1 APN 4 53,086,132 (GRCm39) missense probably benign
IGL01013:Abca1 APN 4 53,038,185 (GRCm39) nonsense probably null
IGL01510:Abca1 APN 4 53,143,979 (GRCm39) missense probably damaging 0.97
IGL01608:Abca1 APN 4 53,038,158 (GRCm39) missense probably damaging 1.00
IGL01845:Abca1 APN 4 53,090,297 (GRCm39) missense probably damaging 1.00
IGL02048:Abca1 APN 4 53,069,831 (GRCm39) missense probably damaging 1.00
IGL02249:Abca1 APN 4 53,068,739 (GRCm39) nonsense probably null
IGL02569:Abca1 APN 4 53,034,061 (GRCm39) missense probably damaging 1.00
IGL02622:Abca1 APN 4 53,034,046 (GRCm39) missense probably damaging 0.99
R6720_abca1_529 UTSW 4 53,083,733 (GRCm39) missense probably damaging 1.00
R0042:Abca1 UTSW 4 53,059,245 (GRCm39) splice site probably benign
R0042:Abca1 UTSW 4 53,059,245 (GRCm39) splice site probably benign
R0050:Abca1 UTSW 4 53,069,910 (GRCm39) splice site probably benign
R0107:Abca1 UTSW 4 53,080,834 (GRCm39) missense probably benign 0.00
R0127:Abca1 UTSW 4 53,067,155 (GRCm39) missense probably benign 0.00
R0178:Abca1 UTSW 4 53,081,953 (GRCm39) missense possibly damaging 0.89
R0207:Abca1 UTSW 4 53,086,039 (GRCm39) missense probably damaging 0.97
R0267:Abca1 UTSW 4 53,046,105 (GRCm39) missense probably damaging 1.00
R0269:Abca1 UTSW 4 53,044,228 (GRCm39) missense probably benign
R0586:Abca1 UTSW 4 53,092,860 (GRCm39) missense probably benign 0.00
R0587:Abca1 UTSW 4 53,107,035 (GRCm39) missense probably benign 0.00
R1403:Abca1 UTSW 4 53,059,253 (GRCm39) splice site probably benign
R1404:Abca1 UTSW 4 53,059,253 (GRCm39) splice site probably benign
R1405:Abca1 UTSW 4 53,059,253 (GRCm39) splice site probably benign
R1558:Abca1 UTSW 4 53,092,887 (GRCm39) missense probably null 0.00
R1655:Abca1 UTSW 4 53,050,964 (GRCm39) missense probably benign
R1662:Abca1 UTSW 4 53,090,251 (GRCm39) splice site probably null
R1769:Abca1 UTSW 4 53,074,325 (GRCm39) missense probably damaging 1.00
R1898:Abca1 UTSW 4 53,071,977 (GRCm39) missense probably benign 0.08
R1945:Abca1 UTSW 4 53,061,509 (GRCm39) frame shift probably null
R1966:Abca1 UTSW 4 53,050,409 (GRCm39) missense probably damaging 1.00
R2055:Abca1 UTSW 4 53,069,881 (GRCm39) missense probably benign
R2185:Abca1 UTSW 4 53,089,830 (GRCm39) missense probably benign 0.12
R2202:Abca1 UTSW 4 53,090,291 (GRCm39) missense probably damaging 0.96
R2203:Abca1 UTSW 4 53,090,291 (GRCm39) missense probably damaging 0.96
R2204:Abca1 UTSW 4 53,090,291 (GRCm39) missense probably damaging 0.96
R3056:Abca1 UTSW 4 53,127,626 (GRCm39) missense probably benign
R3849:Abca1 UTSW 4 53,061,481 (GRCm39) splice site probably benign
R3850:Abca1 UTSW 4 53,061,481 (GRCm39) splice site probably benign
R3906:Abca1 UTSW 4 53,067,151 (GRCm39) missense possibly damaging 0.84
R3908:Abca1 UTSW 4 53,067,151 (GRCm39) missense possibly damaging 0.84
R4050:Abca1 UTSW 4 53,044,144 (GRCm39) missense probably damaging 1.00
R4204:Abca1 UTSW 4 53,090,369 (GRCm39) missense probably benign 0.00
R4225:Abca1 UTSW 4 53,085,106 (GRCm39) missense possibly damaging 0.87
R4577:Abca1 UTSW 4 53,062,568 (GRCm39) missense possibly damaging 0.94
R4979:Abca1 UTSW 4 53,085,092 (GRCm39) splice site probably null
R5022:Abca1 UTSW 4 53,041,570 (GRCm39) frame shift probably null
R5168:Abca1 UTSW 4 53,086,070 (GRCm39) missense probably benign
R5363:Abca1 UTSW 4 53,132,963 (GRCm39) missense probably benign 0.00
R5439:Abca1 UTSW 4 53,042,381 (GRCm39) missense possibly damaging 0.55
R5604:Abca1 UTSW 4 53,067,168 (GRCm39) splice site probably null
R5614:Abca1 UTSW 4 53,046,132 (GRCm39) missense probably damaging 1.00
R5810:Abca1 UTSW 4 53,079,631 (GRCm39) missense probably benign
R6001:Abca1 UTSW 4 53,075,555 (GRCm39) missense possibly damaging 0.68
R6151:Abca1 UTSW 4 53,085,261 (GRCm39) missense probably benign
R6262:Abca1 UTSW 4 53,092,917 (GRCm39) missense probably benign 0.01
R6455:Abca1 UTSW 4 53,042,376 (GRCm39) missense probably damaging 0.98
R6472:Abca1 UTSW 4 53,085,991 (GRCm39) critical splice donor site probably null
R6564:Abca1 UTSW 4 53,034,031 (GRCm39) missense possibly damaging 0.85
R6720:Abca1 UTSW 4 53,083,733 (GRCm39) missense probably damaging 1.00
R6903:Abca1 UTSW 4 53,143,952 (GRCm39) missense probably benign 0.17
R6960:Abca1 UTSW 4 53,072,924 (GRCm39) missense probably benign 0.00
R7065:Abca1 UTSW 4 53,074,233 (GRCm39) missense probably damaging 0.98
R7142:Abca1 UTSW 4 53,082,050 (GRCm39) missense probably damaging 1.00
R7322:Abca1 UTSW 4 53,067,151 (GRCm39) missense probably damaging 0.97
R7520:Abca1 UTSW 4 53,078,114 (GRCm39) missense probably benign
R7547:Abca1 UTSW 4 53,109,269 (GRCm39) missense probably benign 0.02
R7793:Abca1 UTSW 4 53,042,367 (GRCm39) missense not run
R7863:Abca1 UTSW 4 53,107,179 (GRCm39) missense probably benign
R7877:Abca1 UTSW 4 53,046,135 (GRCm39) missense possibly damaging 0.55
R8010:Abca1 UTSW 4 53,127,600 (GRCm39) missense probably benign
R8058:Abca1 UTSW 4 53,081,954 (GRCm39) missense possibly damaging 0.60
R8181:Abca1 UTSW 4 53,059,303 (GRCm39) missense probably benign 0.21
R8471:Abca1 UTSW 4 53,044,187 (GRCm39) missense probably damaging 1.00
R8774:Abca1 UTSW 4 53,090,358 (GRCm39) missense possibly damaging 0.89
R8774-TAIL:Abca1 UTSW 4 53,090,358 (GRCm39) missense possibly damaging 0.89
R8806:Abca1 UTSW 4 53,084,520 (GRCm39) missense probably benign 0.17
R8841:Abca1 UTSW 4 53,143,925 (GRCm39) splice site probably benign
R9081:Abca1 UTSW 4 53,109,162 (GRCm39) critical splice donor site probably null
R9483:Abca1 UTSW 4 53,060,351 (GRCm39) missense probably benign 0.11
R9532:Abca1 UTSW 4 53,109,284 (GRCm39) missense probably benign
R9621:Abca1 UTSW 4 53,092,918 (GRCm39) missense probably benign 0.00
R9638:Abca1 UTSW 4 53,092,806 (GRCm39) missense probably damaging 0.96
RF005:Abca1 UTSW 4 53,049,125 (GRCm39) missense probably damaging 0.97
RF024:Abca1 UTSW 4 53,049,125 (GRCm39) missense probably damaging 0.97
X0023:Abca1 UTSW 4 53,049,038 (GRCm39) missense possibly damaging 0.91
Z1177:Abca1 UTSW 4 53,086,133 (GRCm39) missense possibly damaging 0.73
Z1177:Abca1 UTSW 4 53,080,799 (GRCm39) missense probably benign 0.01
Z1177:Abca1 UTSW 4 53,079,584 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGATCTTGGGAGAGTCACACC -3'
(R):5'- AGTTCATTGCTACTGTCAGCTC -3'

Sequencing Primer
(F):5'- GAGAGTCACACCCTCTTCTTACATGG -3'
(R):5'- TGTCAGCTCACGTGTTCCAAGG -3'
Posted On 2018-02-27