|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family A (ABC1), member 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6720 (G1)|
|Chromosomal Location||53030787-53159895 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 53083733 bp|
|Amino Acid Change||Leucine to Arginine at position 700 (L700R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030010 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030010]|
|Predicted Effect||probably damaging
AA Change: L700R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L700R
|Meta Mutation Damage Score||0.454|
|Coding Region Coverage||
|Validation Efficiency||98% (50/51)|
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||
|Other mutations in Abca1||
(F):5'- AGCCTCTTCCTCCAGAGAGC -3'
(R):5'- CCAGTTTTCTGCGGGTCATG -3'
(F):5'- TAGCTGCTAACTATCCCAGTGGG -3'
(R):5'- TCATGAGCCGGTCAATGC -3'