Incidental Mutation 'R1945:Abca1'
ID 216562
Institutional Source Beutler Lab
Gene Symbol Abca1
Ensembl Gene ENSMUSG00000015243
Gene Name ATP-binding cassette, sub-family A member 1
Synonyms ABC1
MMRRC Submission 039963-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1945 (G1)
Quality Score 117
Status Not validated
Chromosome 4
Chromosomal Location 53030787-53159895 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) ACGTCTTCACCAGGTAATC to AC at 53061509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030010]
AlphaFold P41233
Predicted Effect probably null
Transcript: ENSMUST00000030010
SMART Domains Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,653,549 (GRCm39) I33V unknown Het
Amotl2 T C 9: 102,597,753 (GRCm39) S171P probably benign Het
Armh4 T A 14: 50,005,940 (GRCm39) E585V probably damaging Het
Atf6 A T 1: 170,682,710 (GRCm39) V34E probably benign Het
Atrip T A 9: 108,900,935 (GRCm39) I135F probably damaging Het
Bglap A G 3: 88,290,971 (GRCm39) Y87H probably damaging Het
Camk2n1 G A 4: 138,184,094 (GRCm39) V78I possibly damaging Het
Ccdc92b A G 11: 74,520,835 (GRCm39) I46V probably benign Het
Cdc14b T C 13: 64,367,704 (GRCm39) Y208C probably damaging Het
Cdc42bpb C T 12: 111,265,567 (GRCm39) R1455Q probably damaging Het
Cep170 C A 1: 176,621,100 (GRCm39) G26* probably null Het
Cfap46 A G 7: 139,259,819 (GRCm39) F217S probably damaging Het
Col11a2 A T 17: 34,278,142 (GRCm39) D691V probably damaging Het
Col7a1 G A 9: 108,789,078 (GRCm39) V798I unknown Het
Coq8b CGCA CGCAGCA 7: 26,933,405 (GRCm39) probably benign Het
Coq8b GCA GCAACA 7: 26,933,406 (GRCm39) probably benign Het
Dcaf5 T C 12: 80,385,468 (GRCm39) D886G probably benign Het
Ern1 A G 11: 106,312,776 (GRCm39) S202P probably damaging Het
Etaa1 A G 11: 17,897,233 (GRCm39) C295R probably damaging Het
Ghdc C T 11: 100,660,031 (GRCm39) A239T probably benign Het
Grik4 T C 9: 42,432,300 (GRCm39) D899G possibly damaging Het
Hacd2 C A 16: 34,922,354 (GRCm39) T181K possibly damaging Het
Havcr2 T C 11: 46,345,877 (GRCm39) L17P unknown Het
Herc3 T C 6: 58,864,424 (GRCm39) V686A probably damaging Het
Hyal3 T C 9: 107,462,671 (GRCm39) L235P probably damaging Het
Itgb4 C T 11: 115,884,279 (GRCm39) Q988* probably null Het
Itprid2 T C 2: 79,492,996 (GRCm39) V1181A probably benign Het
Krt32 T A 11: 99,975,670 (GRCm39) probably null Het
Krt33a T C 11: 99,903,535 (GRCm39) N199S probably benign Het
Lama1 T A 17: 68,052,848 (GRCm39) S394T probably benign Het
Lamp1 T C 8: 13,222,545 (GRCm39) V243A probably benign Het
Loxhd1 A G 18: 77,492,504 (GRCm39) Y1315C probably damaging Het
Macf1 A T 4: 123,384,453 (GRCm39) L1148* probably null Het
Mill2 A G 7: 18,575,419 (GRCm39) H42R probably benign Het
Myo15a T C 11: 60,392,909 (GRCm39) F2194L probably damaging Het
Myo15b A T 11: 115,769,224 (GRCm39) I1472F probably damaging Het
Nasp T C 4: 116,479,965 (GRCm39) S36G possibly damaging Het
Nav2 A G 7: 49,114,620 (GRCm39) Y868C probably damaging Het
Niban1 T C 1: 151,571,979 (GRCm39) I308T probably damaging Het
Nono T C X: 100,485,429 (GRCm39) probably null Het
Npc1l1 T A 11: 6,164,588 (GRCm39) I1154F possibly damaging Het
Npc1l1 C T 11: 6,175,199 (GRCm39) W592* probably null Het
Nsg2 T C 11: 32,005,068 (GRCm39) V90A probably damaging Het
Odf4 T C 11: 68,812,983 (GRCm39) N225S possibly damaging Het
Oosp2 C T 19: 11,626,959 (GRCm39) probably null Het
Or1j12 T C 2: 36,343,043 (GRCm39) W149R probably damaging Het
Or4c123 T C 2: 89,127,128 (GRCm39) Y162C probably damaging Het
Pcdhb4 A T 18: 37,441,921 (GRCm39) R410S probably damaging Het
Pde6c T A 19: 38,145,967 (GRCm39) D418E probably damaging Het
Pik3ap1 A T 19: 41,262,776 (GRCm39) S799T probably benign Het
Pitx2 A G 3: 129,012,185 (GRCm39) N198S probably damaging Het
Psmb3 T C 11: 97,601,981 (GRCm39) F117S probably benign Het
Ptprq A T 10: 107,418,249 (GRCm39) M1709K probably benign Het
Recql5 G A 11: 115,819,123 (GRCm39) R148* probably null Het
Reep3 A G 10: 66,871,678 (GRCm39) S97P probably damaging Het
Rnase12 T A 14: 51,294,463 (GRCm39) Q72L possibly damaging Het
Scd3 T C 19: 44,224,219 (GRCm39) Y151H probably benign Het
Scn10a A T 9: 119,520,520 (GRCm39) S127T possibly damaging Het
Scn7a A T 2: 66,506,324 (GRCm39) W1522R probably damaging Het
Senp7 A G 16: 55,944,309 (GRCm39) H211R probably damaging Het
Septin10 C T 10: 59,016,841 (GRCm39) probably null Het
Serpinb6d T C 13: 33,851,663 (GRCm39) V140A possibly damaging Het
Sned1 A G 1: 93,198,960 (GRCm39) E457G probably benign Het
Spag17 A C 3: 99,847,298 (GRCm39) M76L probably benign Het
Spata31e2 C A 1: 26,721,395 (GRCm39) V1262F probably benign Het
Spata31e3 C T 13: 50,399,527 (GRCm39) G933E probably damaging Het
Sspo A T 6: 48,466,707 (GRCm39) E105V possibly damaging Het
Stoml3 T A 3: 53,412,866 (GRCm39) D173E possibly damaging Het
Sun3 T C 11: 8,988,296 (GRCm39) I9V probably benign Het
Svil T C 18: 5,117,059 (GRCm39) W2165R probably damaging Het
Tbl2 T A 5: 135,186,454 (GRCm39) S184T possibly damaging Het
Tdrd7 A T 4: 45,965,474 (GRCm39) T31S probably benign Het
Tmeff1 A G 4: 48,614,960 (GRCm39) N139S possibly damaging Het
Trip13 T C 13: 74,076,043 (GRCm39) R199G probably damaging Het
Tshb G T 3: 102,684,831 (GRCm39) Y124* probably null Het
Ttn T C 2: 76,560,366 (GRCm39) E29345G probably damaging Het
Usp33 T A 3: 152,085,223 (GRCm39) S620T probably benign Het
Vipr1 G A 9: 121,497,540 (GRCm39) G353R probably damaging Het
Vipr1 G T 9: 121,497,541 (GRCm39) G353V probably damaging Het
Vps13c A T 9: 67,793,558 (GRCm39) D437V probably damaging Het
Ylpm1 T A 12: 85,062,192 (GRCm39) S240T probably damaging Het
Zfp772 A G 7: 7,206,629 (GRCm39) I354T probably benign Het
Zfp959 T A 17: 56,204,231 (GRCm39) Y86* probably null 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
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
Predicted Primers PCR Primer
(F):5'- GTCAGAATTCAAATCTGAGTCCAC -3'
(R):5'- AGGGACAAGTGCCAATGGTC -3'

Sequencing Primer
(F):5'- AGGCAGCCTCGTTCTCTAAG -3'
(R):5'- TGACTGGCTGAGGTTCTTGC -3'
Posted On 2014-08-01