|Institutional Source||Beutler Lab|
|Gene Name||ATPase, H+ transporting, lysosomal V1 subunit G3|
|Is this an essential gene?||Probably non essential (E-score: 0.020)|
|Stock #||T0722 (G3) of strain 711|
|Chromosomal Location||138273738-138289462 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to A at 138273853 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000027643 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027643]|
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||95% (42/44)|
|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'- AGTGAATTGCCAGTGTCTTGGAGTC -3'
(R):5'- TGTGGAGTGTGGAACATGCAGC -3'
(F):5'- CCAGTGTCTTGGAGTCACTAAC -3'
(R):5'- TGCTTGACAAGGACTCCCAT -3'