|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family A (ABC1), member 8b|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1543 (G1)|
|Chromosomal Location||109932190-109995845 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 109974674 bp|
|Amino Acid Change||Methionine to Arginine at position 319 (M319R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020948 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020948] [ENSMUST00000106669]|
|Predicted Effect||probably damaging
AA Change: M319R
PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: M319R
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.4762|
|Coding Region Coverage||
|Validation Efficiency||95% (77/81)|
|MGI Phenotype||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, 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. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abca8b||
(F):5'- TAGGTAACAGATCCTCACCTGGGC -3'
(R):5'- ACCAGCTTCATGGTGGTCTTTAGC -3'
(F):5'- CCATTCCTAGTGTGAAGGCAAAG -3'
(R):5'- GAGTTGATTTAAAATTCCCCTTGCC -3'