Incidental Mutation 'IGL01962:Abcg1'
ID 182441
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcg1
Ensembl Gene ENSMUSG00000024030
Gene Name ATP binding cassette subfamily G member 1
Synonyms White, Abc8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # IGL01962
Quality Score
Status
Chromosome 17
Chromosomal Location 31276668-31336958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31324514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 253 (F253S)
Ref Sequence ENSEMBL: ENSMUSP00000024829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024829]
AlphaFold Q64343
Predicted Effect probably benign
Transcript: ENSMUST00000024829
AA Change: F253S

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000024829
Gene: ENSMUSG00000024030
AA Change: F253S

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
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI429214 T A 8: 37,461,383 (GRCm39) I177N probably damaging Het
Astn1 C A 1: 158,496,201 (GRCm39) T1077K probably damaging Het
Asxl3 A T 18: 22,655,502 (GRCm39) I1171L probably benign Het
Cdca2 A T 14: 67,943,172 (GRCm39) S206T probably damaging Het
Chd3 T C 11: 69,248,319 (GRCm39) M858V possibly damaging Het
Cyp2j12 C T 4: 95,987,999 (GRCm39) A464T probably benign Het
Fryl A T 5: 73,190,134 (GRCm39) D2787E possibly damaging Het
Hmx3 G A 7: 131,146,000 (GRCm39) R236H probably damaging Het
Il1rap T A 16: 26,529,318 (GRCm39) C330* probably null Het
Klrc1 A T 6: 129,655,865 (GRCm39) N3K probably damaging Het
Nars1 A G 18: 64,643,554 (GRCm39) F142L probably benign Het
Nipal1 A G 5: 72,825,401 (GRCm39) S365G possibly damaging Het
Or1n1 T A 2: 36,749,787 (GRCm39) H191L probably benign Het
Or2ag15 G A 7: 106,340,991 (GRCm39) T50I probably benign Het
Or51s1 T G 7: 102,559,054 (GRCm39) probably benign Het
Or8k17 C A 2: 86,066,456 (GRCm39) R234M probably damaging Het
Pcdhb4 A G 18: 37,442,057 (GRCm39) T456A possibly damaging Het
Pcdhb5 G A 18: 37,454,093 (GRCm39) D158N probably damaging Het
Pcsk2 C T 2: 143,655,552 (GRCm39) Q579* probably null Het
Phactr4 G A 4: 132,091,086 (GRCm39) R577W probably damaging Het
Rbms3 T C 9: 116,524,879 (GRCm39) probably benign Het
Rxfp1 T G 3: 79,594,175 (GRCm39) D73A probably damaging Het
Scmh1 A T 4: 120,340,781 (GRCm39) probably benign Het
Syk T G 13: 52,764,993 (GRCm39) L40R probably damaging Het
Tcn2 T C 11: 3,875,072 (GRCm39) N153S probably benign Het
Tnks A G 8: 35,336,678 (GRCm39) L502P probably damaging Het
Vmn2r111 A G 17: 22,767,265 (GRCm39) V744A possibly damaging Het
Other mutations in Abcg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8058:Abcg1 UTSW 17 31,324,504 (GRCm39) missense probably benign
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
Posted On 2014-05-07