Incidental Mutation 'R2185:Abca1'
ID 237812
Institutional Source Beutler Lab
Gene Symbol Abca1
Ensembl Gene ENSMUSG00000015243
Gene Name ATP-binding cassette, sub-family A member 1
Synonyms ABC1
MMRRC Submission 040187-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2185 (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 53089830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 427 (M427T)
Ref Sequence ENSEMBL: ENSMUSP00000030010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030010]
AlphaFold P41233
Predicted Effect probably benign
Transcript: ENSMUST00000030010
AA Change: M427T

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: M427T

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 0.1258 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S possibly 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
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
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'- CAGGGCTATCACTGCACTAAGG -3'
(R):5'- AAGGACTGAGCAGAGGTTTC -3'

Sequencing Primer
(F):5'- ATCACTGCACTAAGGCCTTTG -3'
(R):5'- CAGAGGTTTCTGTAATGAGTGGTG -3'
Posted On 2014-10-02