|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family A (ABC1), member 5|
|Is this an essential gene?||Probably non essential (E-score: 0.133)|
|Stock #||R4833 (G1)|
|Chromosomal Location||110269369-110337716 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 110279316 bp|
|Amino Acid Change||Tyrosine to Aspartic acid at position 1318 (Y1318D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047927 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043961]|
|Predicted Effect||probably benign
AA Change: Y1318D
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: Y1318D
|Meta Mutation Damage Score||0.0943|
|Coding Region Coverage||
|Validation Efficiency||99% (74/75)|
|MGI Phenotype||Strain: 3581814
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abca5||
(F):5'- TTAATGACTGTGCTTTTGCCAGC -3'
(R):5'- TTACCAAGGCACTGGAATGAAG -3'
(F):5'- GCTCCATTTGGACCCAACAGTC -3'
(R):5'- ATTTATTTTACACTGCCCTCTTAGAG -3'