Incidental Mutation 'P0029:Atp6v1c1'
ID 15785
Institutional Source Beutler Lab
Gene Symbol Atp6v1c1
Ensembl Gene ENSMUSG00000022295
Gene Name ATPase, H+ transporting, lysosomal V1 subunit C1
Synonyms 1700025B18Rik
MMRRC Submission 038282-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # P0029 (G1)
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 38662177-38692690 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 38687146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022904] [ENSMUST00000226533]
AlphaFold Q9Z1G3
Predicted Effect probably benign
Transcript: ENSMUST00000022904
SMART Domains Protein: ENSMUSP00000022904
Gene: ENSMUSG00000022295

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 370 1.2e-168 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228475
Coding Region Coverage
  • 1x: 79.5%
  • 3x: 61.6%
  • 10x: 20.9%
  • 20x: 5.8%
Validation Efficiency 87% (20/23)
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
Total: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dnah8 T A 17: 30,984,694 (GRCm39) Y3131N probably damaging Het
Itpr2 A C 6: 146,280,987 (GRCm39) M223R probably damaging Het
Lmna A T 3: 88,391,224 (GRCm39) H506Q possibly damaging Het
Txnip A G 3: 96,467,679 (GRCm39) probably null Het
Zfp418 A G 7: 7,177,636 (GRCm39) Y50C probably damaging Het
Other mutations in Atp6v1c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Atp6v1c1 APN 15 38,687,100 (GRCm39) missense probably damaging 0.99
IGL01371:Atp6v1c1 APN 15 38,683,204 (GRCm39) missense probably benign
IGL02987:Atp6v1c1 APN 15 38,690,806 (GRCm39) missense possibly damaging 0.70
R0550:Atp6v1c1 UTSW 15 38,683,173 (GRCm39) splice site probably benign
R0669:Atp6v1c1 UTSW 15 38,677,772 (GRCm39) missense probably benign 0.00
R2033:Atp6v1c1 UTSW 15 38,674,210 (GRCm39) critical splice donor site probably null
R3021:Atp6v1c1 UTSW 15 38,689,460 (GRCm39) missense possibly damaging 0.75
R4475:Atp6v1c1 UTSW 15 38,677,817 (GRCm39) missense probably benign 0.03
R4612:Atp6v1c1 UTSW 15 38,677,856 (GRCm39) missense probably damaging 1.00
R4798:Atp6v1c1 UTSW 15 38,689,420 (GRCm39) missense probably damaging 1.00
R5095:Atp6v1c1 UTSW 15 38,679,657 (GRCm39) critical splice donor site probably null
R5600:Atp6v1c1 UTSW 15 38,687,107 (GRCm39) missense probably benign 0.17
R6177:Atp6v1c1 UTSW 15 38,674,172 (GRCm39) nonsense probably null
R6434:Atp6v1c1 UTSW 15 38,677,790 (GRCm39) missense probably damaging 0.99
R6916:Atp6v1c1 UTSW 15 38,677,825 (GRCm39) missense probably benign 0.00
R6973:Atp6v1c1 UTSW 15 38,690,794 (GRCm39) missense probably damaging 1.00
R7395:Atp6v1c1 UTSW 15 38,691,949 (GRCm39) makesense probably null
R7607:Atp6v1c1 UTSW 15 38,683,255 (GRCm39) critical splice donor site probably null
R7712:Atp6v1c1 UTSW 15 38,687,049 (GRCm39) missense probably benign 0.00
R8830:Atp6v1c1 UTSW 15 38,677,789 (GRCm39) missense probably damaging 0.98
R9195:Atp6v1c1 UTSW 15 38,674,198 (GRCm39) missense probably damaging 1.00
R9640:Atp6v1c1 UTSW 15 38,689,381 (GRCm39) missense probably damaging 1.00
Posted On 2013-01-04