Incidental Mutation 'R5810:Abca1'
ID 447453
Institutional Source Beutler Lab
Gene Symbol Abca1
Ensembl Gene ENSMUSG00000015243
Gene Name ATP-binding cassette, sub-family A member 1
Synonyms ABC1
MMRRC Submission 043395-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5810 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 53030787-53159895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53079631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 866 (F866L)
Ref Sequence ENSEMBL: ENSMUSP00000030010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030010]
AlphaFold P41233
Predicted Effect probably benign
Transcript: ENSMUST00000030010
AA Change: F866L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: F866L

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
Meta Mutation Damage Score 0.0603 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 100% (66/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,035,155 (GRCm39) C314S probably damaging Het
Actl11 C T 9: 107,806,420 (GRCm39) P248S probably benign Het
Actr3 A G 1: 125,344,116 (GRCm39) probably benign Het
Baz1a G A 12: 54,974,500 (GRCm39) probably benign Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Bpifa5 G A 2: 154,005,638 (GRCm39) probably null Het
Car13 A C 3: 14,706,828 (GRCm39) probably null Het
Ceacam18 A T 7: 43,286,382 (GRCm39) H85L probably benign Het
Cnnm3 A G 1: 36,564,280 (GRCm39) E704G probably benign Het
Cyp4f14 T A 17: 33,125,072 (GRCm39) I450F possibly damaging Het
Ddhd1 G T 14: 45,840,164 (GRCm39) T710N probably damaging Het
Ddx60 C T 8: 62,465,422 (GRCm39) Q1360* probably null Het
Dlg5 A G 14: 24,196,322 (GRCm39) V1625A probably damaging Het
Dst G A 1: 34,222,121 (GRCm39) probably benign Het
Dyrk2 G T 10: 118,696,245 (GRCm39) H338N probably benign Het
Epb41l1 A T 2: 156,341,575 (GRCm39) I187F probably damaging Het
Esd A G 14: 74,983,051 (GRCm39) D221G probably damaging Het
Fam53b T A 7: 132,361,893 (GRCm39) N45I probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fryl A T 5: 73,248,098 (GRCm39) D1006E probably benign Het
Gli3 T C 13: 15,818,894 (GRCm39) V232A probably damaging Het
Gm28308 C A 6: 52,190,196 (GRCm39) probably benign Het
Gpatch1 G A 7: 34,994,796 (GRCm39) A490V probably benign Het
Hoxa7 T C 6: 52,193,004 (GRCm39) D128G probably benign Het
Igdcc4 A G 9: 65,035,977 (GRCm39) T751A probably damaging Het
Igsf10 G A 3: 59,226,492 (GRCm39) L2394F probably damaging Het
Il15ra A G 2: 11,738,063 (GRCm39) probably null Het
Il17re C T 6: 113,446,557 (GRCm39) A436V probably damaging Het
Krtap19-2 T C 16: 88,671,124 (GRCm39) probably benign Het
Larp7-ps A T 4: 92,079,820 (GRCm39) probably null Het
Lgals12 T C 19: 7,584,085 (GRCm39) D4G probably benign Het
Liph A T 16: 21,786,860 (GRCm39) L252Q probably damaging Het
Mtg1 T A 7: 139,725,898 (GRCm39) probably null Het
Myo18b A G 5: 112,982,316 (GRCm39) L1139P probably damaging Het
Ninl T C 2: 150,792,088 (GRCm39) R812G probably benign Het
Npm3 A G 19: 45,736,644 (GRCm39) I165T possibly damaging Het
Or1e22 G T 11: 73,376,921 (GRCm39) S243* probably null Het
Osbpl9 A G 4: 108,943,571 (GRCm39) V231A probably benign Het
Pgam2 T C 11: 5,753,417 (GRCm39) H91R possibly damaging Het
Pkhd1 A G 1: 20,270,897 (GRCm39) W3219R probably benign Het
Procr A G 2: 155,593,327 (GRCm39) K4E possibly damaging Het
Slc22a16 C T 10: 40,471,314 (GRCm39) T495I possibly damaging Het
Slc22a6 A G 19: 8,601,222 (GRCm39) K425E probably damaging Het
Slco6c1 A T 1: 97,003,598 (GRCm39) C500S probably damaging Het
Snrpd2 G T 7: 18,886,447 (GRCm39) V77F probably benign Het
Sp100 G A 1: 85,593,006 (GRCm39) G145D probably benign Het
Spg7 G A 8: 123,821,308 (GRCm39) E678K possibly damaging Het
Ssh1 T C 5: 114,084,627 (GRCm39) K538E probably benign Het
Sspo C T 6: 48,460,832 (GRCm39) R3356W probably benign Het
Stx1a G T 5: 135,077,932 (GRCm39) V255F probably damaging Het
Tbc1d13 C A 2: 30,032,380 (GRCm39) Q164K probably benign Het
Tfpi AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA 2: 84,264,768 (GRCm39) probably benign Het
Tpm2 T C 4: 43,518,968 (GRCm39) probably benign Het
Triobp T C 15: 78,852,467 (GRCm39) C874R probably benign Het
Tymp T A 15: 89,258,534 (GRCm39) H269L probably damaging Het
Vmn1r194 T A 13: 22,428,597 (GRCm39) Y71* probably null Het
Vmn2r102 T C 17: 19,897,804 (GRCm39) V273A probably benign Het
Vmn2r2 A T 3: 64,024,815 (GRCm39) C589S probably damaging Het
Vps13a T C 19: 16,643,688 (GRCm39) T2063A probably benign Het
Ywhaz T C 15: 36,775,510 (GRCm39) I217M probably damaging Het
Zfp322a A C 13: 23,541,579 (GRCm39) Y54* probably null Het
Zswim9 A T 7: 12,994,662 (GRCm39) V498D 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
R6001:Abca1 UTSW 4 53,075,555 (GRCm39) missense possibly damaging 0.68
R6151:Abca1 UTSW 4 53,085,261 (GRCm39) missense probably benign
R6185:Abca1 UTSW 4 53,078,089 (GRCm39) missense probably benign 0.31
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'- TTCCCTTAAGTGCATGCGAC -3'
(R):5'- AAAAGTTAGCCGTCTCCCTC -3'

Sequencing Primer
(F):5'- ACTGCATGGGGTTTTTCTACC -3'
(R):5'- CCAGCCTATTCCTTTCTCATAGGG -3'
Posted On 2016-12-15