|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family A (ABC1), member 9|
|Is this an essential gene?||Probably non essential (E-score: 0.127)|
|Stock #||R0064 (G1)|
|Chromosomal Location||110100749-110168196 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 110144871 bp|
|Amino Acid Change||Leucine to Arginine at position 641 (L641R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036338 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044850]|
|Predicted Effect||probably damaging
AA Change: L641R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L641R
|Meta Mutation Damage Score||0.0344|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. 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, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abca9||
(F):5'- CCATAGGACAAAGCATTGGGGACAC -3'
(R):5'- CTTGGGATCGCCATTTTAGGAGACC -3'
(F):5'- GTCTAAGGGGCCTACTTGTAACC -3'
(R):5'- CATTTTAGGAGACCCCCAGGTAAG -3'
|Protein Function and Prediction|
Abca9 encodes ABCA9, a member of the A subfamily of ATP-binding cassette (ABC) transporters that function to translocate molecules across cellular membranes. ABCA9 has up to 7 transmembane segments in two transmembrane domains as well as two nucleotide-binding domains. The nucleotide-binding domains contain three motifs: Walker A and B motifs (1). ABCA9 is ubiquitously expressed in humans, with highest levels in the adult hear, brain, and liver (1). ABCA9 is suppressed by cholesterol import and induced during monocyte differentiation (1). ABCA9 is proposed to function in monocyte differentiation and macrophage lipid homeostasis (1).
|Science Writer||Anne Murray|