Incidental Mutation 'IGL02569:Abca1'
ID 298957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abca1
Ensembl Gene ENSMUSG00000015243
Gene Name ATP-binding cassette, sub-family A member 1
Synonyms ABC1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02569
Quality Score
Status
Chromosome 4
Chromosomal Location 53030787-53159895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53034061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 2223 (D2223G)
Ref Sequence ENSEMBL: ENSMUSP00000030010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030010]
AlphaFold P41233
Predicted Effect probably damaging
Transcript: ENSMUST00000030010
AA Change: D2223G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: D2223G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149127
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brd1 A G 15: 88,598,132 (GRCm39) L538P probably damaging Het
Cacna2d2 T C 9: 107,391,245 (GRCm39) V424A probably damaging Het
Capg A C 6: 72,538,032 (GRCm39) E306A probably damaging Het
Cdc14b T C 13: 64,373,428 (GRCm39) Y115C probably benign Het
Crat G A 2: 30,294,542 (GRCm39) R509W probably damaging Het
Ddx60 A G 8: 62,477,985 (GRCm39) N1594S possibly damaging Het
Fabp2 T C 3: 122,689,113 (GRCm39) F18L probably damaging Het
Fam187a A G 11: 102,776,985 (GRCm39) K263R probably benign Het
Fam227a C T 15: 79,518,323 (GRCm39) C323Y probably benign Het
Fas A G 19: 34,297,962 (GRCm39) E210G possibly damaging Het
Fgfbp1 A G 5: 44,136,569 (GRCm39) F241S probably damaging Het
Gramd1a A T 7: 30,829,932 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,573,244 (GRCm39) M2135K probably benign Het
Ikbkb G T 8: 23,183,899 (GRCm39) Q84K probably damaging Het
Kcnk9 T C 15: 72,384,426 (GRCm39) T251A probably benign Het
Mphosph9 C A 5: 124,435,634 (GRCm39) E600* probably null Het
Or2ag1 T A 7: 106,313,793 (GRCm39) I32L probably benign Het
Or2ag1b T A 7: 106,288,849 (GRCm39) T30S probably benign Het
Pde1a C A 2: 79,698,602 (GRCm39) K341N probably benign Het
Prune2 A G 19: 17,156,223 (GRCm39) N2792S probably damaging Het
Scart2 A C 7: 139,878,275 (GRCm39) I885L probably benign Het
Slc17a3 A G 13: 24,030,285 (GRCm39) Y132C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
St6galnac1 T C 11: 116,658,528 (GRCm39) D312G probably damaging Het
Tardbp A G 4: 148,703,639 (GRCm39) probably null Het
Tex9 C T 9: 72,385,645 (GRCm39) V8I probably damaging Het
Tpr T A 1: 150,301,382 (GRCm39) probably benign Het
Ttll8 C T 15: 88,818,129 (GRCm39) W182* probably null Het
Vmn2r61 G A 7: 41,926,070 (GRCm39) G525E probably damaging Het
Zfp111 T C 7: 23,906,494 (GRCm39) T2A 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
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
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
Posted On 2015-04-16