|Institutional Source||Beutler Lab|
|Gene Name||ATPase, H+ transporting, lysosomal V1 subunit G1|
|Synonyms||1810024D14Rik, Atp6g1, Vma10, ATP6J, VAG1, lysosomal 13kDa|
|Is this an essential gene?||Probably essential (E-score: 0.940)|
|Stock #||R1401 (G1)|
|Chromosomal Location||63544772-63550750 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 63548641 bp|
|Amino Acid Change||Tyrosine to Histidine at position 47 (Y47H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048770 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035301]|
|Predicted Effect||probably benign
AA Change: Y47H
PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: Y47H
|Meta Mutation Damage Score||0.2405|
|Coding Region Coverage||
|Validation Efficiency||98% (87/89)|
|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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp6v1g1||
(F):5'- CTCACGGCTCTAAAGGACATTCCC -3'
(R):5'- GATTGTCACAGCAGTGTTCACAGC -3'
(F):5'- TCGAGGCAGAACCTATGTTG -3'
(R):5'- GCAAAGGCCACCAAaaacaaac -3'