|Institutional Source||Beutler Lab|
|Gene Name||ATPase, H+ transporting, lysosomal V1 subunit G3|
|Is this an essential gene?||Probably non essential (E-score: 0.055)|
|Stock #||R5642 (G1)|
|Chromosomal Location||138273738-138289462 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 138283742 bp (GRCm38)|
|Amino Acid Change||Lysine to Asparagine at position 53 (K53N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027643 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027643]|
AA Change: K53N
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: K53N
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp6v1g3||
(F):5'- TGCCCGTGAGTGTGCACT -3'
(R):5'- CCGAGTGGCTTTAACACATG -3'
(F):5'- ATTGGATCCTCTGCAAGAGC -3'
(R):5'- CGAGTGGCTTTAACACATGAAAAC -3'