Incidental Mutation 'R4475:Atp6v1c1'
ID 330531
Institutional Source Beutler Lab
Gene Symbol Atp6v1c1
Ensembl Gene ENSMUSG00000022295
Gene Name ATPase, H+ transporting, lysosomal V1 subunit C1
Synonyms 1700025B18Rik
MMRRC Submission 041732-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4475 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 38662177-38692690 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38677817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 114 (I114T)
Ref Sequence ENSEMBL: ENSMUSP00000022904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022904] [ENSMUST00000226533] [ENSMUST00000228820]
AlphaFold Q9Z1G3
Predicted Effect probably benign
Transcript: ENSMUST00000022904
AA Change: I114T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000022904
Gene: ENSMUSG00000022295
AA Change: I114T

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 370 1.2e-168 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226487
Predicted Effect probably benign
Transcript: ENSMUST00000226533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228486
Predicted Effect probably benign
Transcript: ENSMUST00000228820
Meta Mutation Damage Score 0.0720 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 97% (38/39)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T A 16: 14,407,227 (GRCm39) I52N possibly damaging Het
Adgra3 A T 5: 50,159,240 (GRCm39) Y337N probably damaging Het
Aga T C 8: 53,964,871 (GRCm39) L11P probably damaging Het
Akap6 T C 12: 53,188,426 (GRCm39) F1947L probably benign Het
Bltp1 A G 3: 37,094,544 (GRCm39) T904A probably damaging Het
Dbh T A 2: 27,070,984 (GRCm39) probably null Het
Dgkh T C 14: 78,827,318 (GRCm39) D858G possibly damaging Het
Dlx5 T C 6: 6,881,663 (GRCm39) Y75C probably damaging Het
Dnah8 T C 17: 30,875,959 (GRCm39) F529L probably benign Het
Epg5 A C 18: 77,991,723 (GRCm39) D140A probably benign Het
Esr2 C T 12: 76,180,716 (GRCm39) D402N probably benign Het
Hells A G 19: 38,933,973 (GRCm39) T265A probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hspa8 T A 9: 40,715,442 (GRCm39) probably benign Het
Ighm A G 12: 113,384,513 (GRCm39) probably benign Het
Nedd4 C T 9: 72,578,521 (GRCm39) R78* probably null Het
Nrxn1 G T 17: 91,009,410 (GRCm39) N388K probably damaging Het
Oprk1 T A 1: 5,672,824 (GRCm39) Y320* probably null Het
Or10j2 T C 1: 173,098,480 (GRCm39) V246A probably damaging Het
Or9s27 T C 1: 92,516,301 (GRCm39) V83A probably benign Het
Parn A G 16: 13,482,549 (GRCm39) S100P probably benign Het
Piezo2 A G 18: 63,235,170 (GRCm39) L809P probably damaging Het
Plek C T 11: 16,935,528 (GRCm39) probably null Het
Prg4 T C 1: 150,330,610 (GRCm39) probably benign Het
Rrs1 T C 1: 9,615,810 (GRCm39) L21P probably damaging Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Sim2 T C 16: 93,926,650 (GRCm39) S625P probably benign Het
Smpd5 T C 15: 76,178,926 (GRCm39) L98P probably damaging Het
Srpra A G 9: 35,124,155 (GRCm39) K34E possibly damaging Het
Tbc1d2 A G 4: 46,609,080 (GRCm39) V719A possibly damaging Het
Tmem52b C T 6: 129,491,219 (GRCm39) H37Y probably benign Het
Tnip1 A G 11: 54,830,422 (GRCm39) probably null Het
Trim3 A G 7: 105,267,009 (GRCm39) Y457H probably damaging Het
Usp34 T C 11: 23,407,975 (GRCm39) I2600T possibly damaging Het
Vmn2r129 T G 4: 156,691,085 (GRCm39) noncoding transcript Het
Zfp365 C A 10: 67,724,750 (GRCm39) K379N possibly 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
P0029:Atp6v1c1 UTSW 15 38,687,146 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCCTGTGTTAAAAGCAAGCAAAC -3'
(R):5'- TTTGGGACCACTAACCACAGG -3'

Sequencing Primer
(F):5'- TGGATCTCTAAGTTAAAGGCCAGCC -3'
(R):5'- AACCGTGATGGGTCGCTG -3'
Posted On 2015-07-21