|Institutional Source||Beutler Lab|
|Gene Name||ATPase, H+ transporting, lysosomal V0 subunit A4|
|Synonyms||V-ATPase alpha 4, Atp6n1b|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0105 (G1)|
|Chromosomal Location||38048483-38124586 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to C at 38053129 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000110558 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040259] [ENSMUST00000114908]|
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
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 intracellular compartments of eukaryotic cells. V-ATPase dependent 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. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display postnatal or premature lethality, hyperchloremic hypokalemic acidosis with hypocitraturia, inner ear defects, impaired hearing, and impaired olfaction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp6v0a4||
(F):5'- GGCTGCACCCTTGTGACTGTAAAG -3'
(R):5'- ATGGCTCCCCGATGTTTTCTGTTAG -3'
(F):5'- CCCTTGTGACTGTAAAGATCATATCC -3'
(R):5'- cgagacagggtttctctgtg -3'