|Institutional Source||Beutler Lab|
|Gene Name||ATP binding cassette subfamily G member 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.288)|
|Stock #||R1036 (G1)|
|Chromosomal Location||31057698-31115777 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 31111269 bp|
|Amino Acid Change||Glutamine to Lysine at position 515 (Q515K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024829 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024829]|
|Predicted Effect||probably damaging
AA Change: Q515K
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Q515K
|Meta Mutation Damage Score||0.5507|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
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||
|Other mutations in Abcg1||
(F):5'- ACCAAGTGATTTGCCAGAGGGAAC -3'
(R):5'- GTGTAGTCACAGCCACCCTGAAAG -3'
(F):5'- TTGCCAGAGGGAACAGACATTC -3'
(R):5'- TAAGTGTTCACTGAGCCCCATAG -3'