|Institutional Source||Beutler Lab|
|Gene Name||ATPase, H+ transporting, lysosomal V1 subunit C1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8830 (G1)|
|Chromosomal Location||38661933-38692446 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 38677545 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Isoleucine at position 105 (F105I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022904 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022904] [ENSMUST00000226533] [ENSMUST00000228820]|
AA Change: F105I
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: F105I
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
|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 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. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp6v1c1||
(F):5'- CCTGTGTTAAAAGCAAGCAAAC -3'
(R):5'- TTTGGGACCACTAACCACAGG -3'
(F):5'- TGGATCTCTAAGTTAAAGGCCAGCC -3'
(R):5'- AACCGTGATGGGTCGCTG -3'