Incidental Mutation 'R8058:Abcg1'
ID 619571
Institutional Source Beutler Lab
Gene Symbol Abcg1
Ensembl Gene ENSMUSG00000024030
Gene Name ATP binding cassette subfamily G member 1
Synonyms White, Abc8
MMRRC Submission 067495-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R8058 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 31276668-31336958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31324504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 250 (A250S)
Ref Sequence ENSEMBL: ENSMUSP00000024829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024829]
AlphaFold Q64343
Predicted Effect probably benign
Transcript: ENSMUST00000024829
AA Change: A250S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024829
Gene: ENSMUSG00000024030
AA Change: A250S

DomainStartEndE-ValueType
low complexity region 28 47 N/A INTRINSIC
AAA 110 293 1.28e-14 SMART
Pfam:ABC2_membrane 391 602 1.4e-48 PFAM
transmembrane domain 636 658 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The human protein is involved in macrophage cholesterol efflux and may regulate cellular lipid homeostasis in other cell types. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal lipid homeostasis, increased numbers of multiple immune cell types, and abnormal response to a high fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,081,954 (GRCm39) D769N possibly damaging Het
Abcb6 A G 1: 75,156,653 (GRCm39) L37P possibly damaging Het
Acsf3 C T 8: 123,540,373 (GRCm39) H524Y possibly damaging Het
Agbl4 A G 4: 110,518,039 (GRCm39) K110R unknown Het
Arfgap2 G A 2: 91,096,644 (GRCm39) probably null Het
B4galt4 T C 16: 38,586,383 (GRCm39) probably null Het
Bex6 G T 16: 32,005,224 (GRCm39) D11Y probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
C8b A T 4: 104,647,811 (GRCm39) D334V probably damaging Het
Capn11 T C 17: 45,954,681 (GRCm39) Q152R probably null Het
Ccdc171 C A 4: 83,499,003 (GRCm39) Q234K probably damaging Het
Cemip2 C A 19: 21,829,695 (GRCm39) A1268E probably benign Het
Clec2h A G 6: 128,650,966 (GRCm39) D82G probably benign Het
Creld2 A G 15: 88,710,632 (GRCm39) D349G probably damaging Het
D430041D05Rik A G 2: 103,979,128 (GRCm39) *1415Q probably null Het
Dnmt3a T C 12: 3,952,768 (GRCm39) V755A possibly damaging Het
Doc2a G T 7: 126,450,164 (GRCm39) V201L probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbn1 G T 2: 125,193,889 (GRCm39) D1359E possibly damaging Het
Fcnb T C 2: 27,969,707 (GRCm39) Y120C probably damaging Het
Fras1 T A 5: 96,842,778 (GRCm39) D1665E probably benign Het
Fry A T 5: 150,419,232 (GRCm39) D524V Het
Garem1 A G 18: 21,281,621 (GRCm39) L245P probably damaging Het
Gdf6 A G 4: 9,859,712 (GRCm39) S265G probably benign Het
Gm5591 T C 7: 38,218,363 (GRCm39) I837V probably benign Het
Gpr61 T C 3: 108,058,211 (GRCm39) Y150C probably damaging Het
Grin2b A T 6: 135,710,225 (GRCm39) L1107Q probably damaging Het
Helb A G 10: 119,941,483 (GRCm39) S402P probably benign Het
Htt A G 5: 34,977,444 (GRCm39) T777A probably benign Het
Iffo2 A G 4: 139,341,164 (GRCm39) D383G probably benign Het
Ikzf3 G T 11: 98,407,753 (GRCm39) Y29* probably null Het
Ints2 A T 11: 86,146,179 (GRCm39) M143K probably benign Het
Jmjd1c T C 10: 67,090,274 (GRCm39) V2292A not run Het
Katnip A G 7: 125,442,188 (GRCm39) E725G probably benign Het
Lamb1 C A 12: 31,353,046 (GRCm39) Q916K probably benign Het
Lrrtm4 G A 6: 79,999,528 (GRCm39) M313I probably benign Het
Lum A G 10: 97,404,425 (GRCm39) I107V probably benign Het
Ly6h T C 15: 75,437,061 (GRCm39) E126G probably benign Het
Map3k5 G A 10: 20,007,860 (GRCm39) V1230M probably damaging Het
Mcoln1 T C 8: 3,558,378 (GRCm39) F211L probably benign Het
Mink1 G A 11: 70,494,594 (GRCm39) W258* probably null Het
Muc16 G T 9: 18,571,298 (GRCm39) S407* probably null Het
Ngef G A 1: 87,473,744 (GRCm39) Q13* probably null Het
Nxpe5 T A 5: 138,237,573 (GRCm39) Y44* probably null Het
Or13d1 T A 4: 52,971,106 (GRCm39) L162M probably benign Het
Or4a77 A G 2: 89,487,671 (GRCm39) V38A probably benign Het
Or5t9 A G 2: 86,660,052 (GRCm39) R319G probably benign Het
Or7e178 T A 9: 20,225,476 (GRCm39) I247F probably damaging Het
Or8g24 A T 9: 38,989,862 (GRCm39) Y60N probably damaging Het
Or8h8 C A 2: 86,753,151 (GRCm39) A242S probably benign Het
Orc3 C A 4: 34,595,223 (GRCm39) E249* probably null Het
Otogl A T 10: 107,598,287 (GRCm39) C2288S probably damaging Het
Pde1b A G 15: 103,433,238 (GRCm39) E249G probably damaging Het
Phf2 T C 13: 48,976,558 (GRCm39) E219G unknown Het
Rbm19 T A 5: 120,278,440 (GRCm39) probably null Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Sbk2 A G 7: 4,960,289 (GRCm39) Y294H possibly damaging Het
Selenoo T C 15: 88,976,942 (GRCm39) I198T possibly damaging Het
Sema3f T C 9: 107,559,800 (GRCm39) E729G probably benign Het
Serpinb1b A T 13: 33,269,293 (GRCm39) T9S probably benign Het
Sfxn4 T C 19: 60,832,690 (GRCm39) T235A probably damaging Het
Shc4 A T 2: 125,491,154 (GRCm39) Y461* probably null Het
Slc22a15 T C 3: 101,771,926 (GRCm39) D391G probably benign Het
Slc22a23 G T 13: 34,489,167 (GRCm39) Y239* probably null Het
Slc24a2 G A 4: 86,909,750 (GRCm39) A656V probably damaging Het
Slc2a5 A T 4: 150,227,590 (GRCm39) I470F probably damaging Het
Sptbn4 T C 7: 27,063,694 (GRCm39) E2249G possibly damaging Het
Tas2r139 A T 6: 42,118,753 (GRCm39) Q295L probably benign Het
Tdrd7 C A 4: 46,034,309 (GRCm39) S1051R probably benign Het
Tnfrsf18 G A 4: 156,112,802 (GRCm39) A163T probably benign Het
Ube3b T C 5: 114,544,846 (GRCm39) V596A possibly damaging Het
Vmn2r10 T A 5: 109,149,955 (GRCm39) N363I probably benign Het
Vmn2r15 T A 5: 109,440,956 (GRCm39) I301F probably damaging Het
Yod1 C T 1: 130,646,806 (GRCm39) Q228* probably null Het
Zfp433 A T 10: 81,556,124 (GRCm39) K209* probably null Het
Zfp865 G A 7: 5,033,445 (GRCm39) V477I probably benign Het
Zfp937 T A 2: 150,081,421 (GRCm39) Y484N probably benign Het
Zfp951 T G 5: 104,962,312 (GRCm39) H418P probably damaging Het
Other mutations in Abcg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01962:Abcg1 APN 17 31,324,514 (GRCm39) missense probably benign 0.11
IGL02496:Abcg1 APN 17 31,324,578 (GRCm39) missense probably damaging 0.98
IGL03264:Abcg1 APN 17 31,283,428 (GRCm39) missense probably benign 0.10
PIT4362001:Abcg1 UTSW 17 31,283,398 (GRCm39) missense possibly damaging 0.81
R0682:Abcg1 UTSW 17 31,330,225 (GRCm39) missense probably benign 0.13
R1036:Abcg1 UTSW 17 31,330,243 (GRCm39) missense probably damaging 1.00
R1109:Abcg1 UTSW 17 31,330,210 (GRCm39) missense probably benign 0.01
R1401:Abcg1 UTSW 17 31,333,132 (GRCm39) missense possibly damaging 0.93
R1500:Abcg1 UTSW 17 31,330,253 (GRCm39) missense probably benign 0.11
R2187:Abcg1 UTSW 17 31,324,491 (GRCm39) missense probably damaging 0.99
R2504:Abcg1 UTSW 17 31,311,369 (GRCm39) missense probably damaging 0.98
R3744:Abcg1 UTSW 17 31,330,190 (GRCm39) splice site probably benign
R4632:Abcg1 UTSW 17 31,283,447 (GRCm39) missense probably benign
R4657:Abcg1 UTSW 17 31,327,408 (GRCm39) missense probably benign 0.13
R4679:Abcg1 UTSW 17 31,333,235 (GRCm39) missense probably benign 0.31
R4845:Abcg1 UTSW 17 31,333,057 (GRCm39) missense possibly damaging 0.94
R5061:Abcg1 UTSW 17 31,311,366 (GRCm39) missense probably damaging 1.00
R5685:Abcg1 UTSW 17 31,317,260 (GRCm39) nonsense probably null
R6743:Abcg1 UTSW 17 31,327,321 (GRCm39) missense possibly damaging 0.92
R7084:Abcg1 UTSW 17 31,325,105 (GRCm39) missense probably benign
R7521:Abcg1 UTSW 17 31,283,543 (GRCm39) missense probably benign 0.15
R7716:Abcg1 UTSW 17 31,328,493 (GRCm39) missense probably benign 0.05
R7866:Abcg1 UTSW 17 31,317,269 (GRCm39) nonsense probably null
R7973:Abcg1 UTSW 17 31,323,132 (GRCm39) missense probably damaging 0.98
R8087:Abcg1 UTSW 17 31,283,459 (GRCm39) missense probably benign 0.04
R9327:Abcg1 UTSW 17 31,333,122 (GRCm39) missense probably benign
Z1177:Abcg1 UTSW 17 31,325,140 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- ATATACAGCCCCTGTGGAAGTG -3'
(R):5'- TCAGGGATCTTAGGATGGAGTC -3'

Sequencing Primer
(F):5'- TGGAAGTGTCACCCTTGAAC -3'
(R):5'- AGTCTGGGGTAAGAATCCTGG -3'
Posted On 2020-01-23