Incidental Mutation 'R5168:Abca1'
ID 397386
Institutional Source Beutler Lab
Gene Symbol Abca1
Ensembl Gene ENSMUSG00000015243
Gene Name ATP-binding cassette, sub-family A member 1
Synonyms ABC1
MMRRC Submission 042748-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5168 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 53030787-53159895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53086070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 478 (N478D)
Ref Sequence ENSEMBL: ENSMUSP00000030010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030010]
AlphaFold P41233
Predicted Effect probably benign
Transcript: ENSMUST00000030010
AA Change: N478D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: N478D

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 0.0584 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 96% (47/49)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,966,303 (GRCm39) probably benign Het
Aox1 T A 1: 58,088,561 (GRCm39) C116S probably damaging Het
Bag6 T C 17: 35,363,671 (GRCm39) L785P probably damaging Het
Calcr T C 6: 3,708,610 (GRCm39) N192S probably benign Het
Cntrl T A 2: 35,047,667 (GRCm39) L1414H probably damaging Het
Cntrob T A 11: 69,190,816 (GRCm39) I849F possibly damaging Het
Col6a3 C T 1: 90,701,361 (GRCm39) W2518* probably null Het
Cxcl15 T A 5: 90,943,142 (GRCm39) I48K probably damaging Het
Dab2 T C 15: 6,365,924 (GRCm39) probably benign Het
Ddx54 A G 5: 120,755,097 (GRCm39) E82G probably benign Het
Dock1 T C 7: 134,720,637 (GRCm39) W1249R probably damaging Het
Fras1 A C 5: 96,856,616 (GRCm39) M2000L probably benign Het
Gpr31b A T 17: 13,270,326 (GRCm39) I281N probably damaging Het
Gvin3 T C 7: 106,196,054 (GRCm39) noncoding transcript Het
Haus5 T C 7: 30,357,136 (GRCm39) T432A possibly damaging Het
Hecw2 A G 1: 53,952,459 (GRCm39) S925P probably damaging Het
Katnal1 A G 5: 148,858,132 (GRCm39) M26T possibly damaging Het
Mccc1 C T 3: 36,044,929 (GRCm39) W71* probably null Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Nrbp1 T A 5: 31,407,481 (GRCm39) V397D probably damaging Het
Nt5dc1 T A 10: 34,273,236 (GRCm39) E187D probably benign Het
Or1e19 T A 11: 73,316,669 (GRCm39) I47F probably benign Het
Or51f23 C T 7: 102,453,528 (GRCm39) A281V probably benign Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Pramel27 T C 4: 143,579,768 (GRCm39) V451A probably benign Het
Ralgapa1 A G 12: 55,804,817 (GRCm39) V493A probably benign Het
Ryr2 T C 13: 11,767,207 (GRCm39) T1228A probably benign Het
Slc26a3 G A 12: 31,518,553 (GRCm39) V674I possibly damaging Het
Spata31f1a C T 4: 42,851,488 (GRCm39) V223I probably damaging Het
Srp68 C A 11: 116,156,300 (GRCm39) E147D probably damaging Het
Tacr3 T C 3: 134,535,320 (GRCm39) I96T probably damaging Het
Tmem236 T C 2: 14,197,139 (GRCm39) probably null Het
Tmem62 T A 2: 120,824,088 (GRCm39) N254K probably benign Het
Tmem79 A T 3: 88,240,651 (GRCm39) L99Q probably damaging Het
Trav6-5 A T 14: 53,728,973 (GRCm39) N78Y probably benign Het
Trim33 C T 3: 103,248,997 (GRCm39) Q807* probably null Het
Ugt1a10 A G 1: 87,983,531 (GRCm39) T110A probably benign Het
Vcl C T 14: 21,060,170 (GRCm39) T603I probably damaging Het
Vps8 A T 16: 21,276,195 (GRCm39) T243S probably damaging Het
Vps8 A C 16: 21,351,849 (GRCm39) I323L probably benign Het
Zfp746 G C 6: 48,041,329 (GRCm39) Q465E 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
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
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'- TATCTTGCTCACCAGGCCTG -3'
(R):5'- CTCTTTACCATGACACTTGATGATCAC -3'

Sequencing Primer
(F):5'- GGATACAGCTGTACATGACACTGC -3'
(R):5'- GACACTTGATGATCACTGTTCGCATG -3'
Posted On 2016-07-06