Incidental Mutation 'R9195:Atp6v1c1'
ID 697920
Institutional Source Beutler Lab
Gene Symbol Atp6v1c1
Ensembl Gene ENSMUSG00000022295
Gene Name ATPase, H+ transporting, lysosomal V1 subunit C1
Synonyms 1700025B18Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9195 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 38661933-38692446 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38673954 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 64 (F64I)
Ref Sequence ENSEMBL: ENSMUSP00000022904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022904] [ENSMUST00000226533] [ENSMUST00000228820]
AlphaFold Q9Z1G3
Predicted Effect probably damaging
Transcript: ENSMUST00000022904
AA Change: F64I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022904
Gene: ENSMUSG00000022295
AA Change: F64I

Pfam:V-ATPase_C 4 370 1.2e-168 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000226533
AA Change: F64I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000228820
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (39/39)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik A G 19: 29,786,303 I124T Het
Acot10 G C 15: 20,665,431 T408R probably damaging Het
Ak9 A G 10: 41,407,483 Y1310C Het
Bahcc1 A G 11: 120,276,511 E1246G probably benign Het
Brca2 T A 5: 150,539,953 S1061T possibly damaging Het
Cep83 A G 10: 94,768,939 R505G possibly damaging Het
Clasp2 A G 9: 113,841,977 E382G probably benign Het
Cnksr3 A T 10: 7,138,379 H235Q probably damaging Het
Ctsh A T 9: 90,062,762 H90L probably benign Het
Cybrd1 G A 2: 71,138,398 G205D probably damaging Het
Cyfip2 A T 11: 46,270,628 I345N probably damaging Het
Ech1 T C 7: 28,826,021 L67P probably damaging Het
Ect2l T C 10: 18,143,088 N612S probably benign Het
Gm8186 T A 17: 26,099,118 D35V probably damaging Het
Ighv1-15 T C 12: 114,657,519 H62R probably benign Het
Kcns1 A T 2: 164,167,858 L327Q probably damaging Het
Lbr T C 1: 181,836,272 K61R probably benign Het
Mrpl36 G A 13: 73,331,379 A3T unknown Het
Nectin3 G A 16: 46,458,896 R240* probably null Het
Nek10 T C 14: 14,821,139 L35P probably benign Het
Nr1d1 A G 11: 98,769,057 V547A possibly damaging Het
Obscn A T 11: 59,051,214 I4445N probably damaging Het
Olfr641 T C 7: 104,040,138 I114T probably damaging Het
Pcdhgb1 T G 18: 37,681,104 V216G probably damaging Het
Pklr T C 3: 89,141,329 S100P probably damaging Het
R3hdm1 T A 1: 128,162,238 S70T probably benign Het
Rec114 T G 9: 58,660,251 T151P probably benign Het
Riok3 TTTCATT TTT 18: 12,149,585 probably null Het
Slc33a1 A G 3: 63,963,767 S142P probably damaging Het
Slc4a4 T A 5: 89,133,196 N407K possibly damaging Het
Slc5a4b A G 10: 76,062,315 C522R probably damaging Het
Tcim A T 8: 24,438,862 M12K probably damaging Het
Tenm4 T A 7: 96,892,919 Y1917N probably damaging Het
Ttll1 A G 15: 83,489,578 Y345H probably benign Het
Urb1 A G 16: 90,792,750 V381A probably benign Het
Wnt16 T C 6: 22,297,933 M266T probably benign Het
Zfyve26 T C 12: 79,264,394 I1562V probably benign Het
Other mutations in Atp6v1c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Atp6v1c1 APN 15 38686856 missense probably damaging 0.99
IGL01371:Atp6v1c1 APN 15 38682960 missense probably benign
IGL02987:Atp6v1c1 APN 15 38690562 missense possibly damaging 0.70
P0029:Atp6v1c1 UTSW 15 38686902 unclassified probably benign
R0550:Atp6v1c1 UTSW 15 38682929 splice site probably benign
R0669:Atp6v1c1 UTSW 15 38677528 missense probably benign 0.00
R2033:Atp6v1c1 UTSW 15 38673966 critical splice donor site probably null
R3021:Atp6v1c1 UTSW 15 38689216 missense possibly damaging 0.75
R4475:Atp6v1c1 UTSW 15 38677573 missense probably benign 0.03
R4612:Atp6v1c1 UTSW 15 38677612 missense probably damaging 1.00
R4798:Atp6v1c1 UTSW 15 38689176 missense probably damaging 1.00
R5095:Atp6v1c1 UTSW 15 38679413 critical splice donor site probably null
R5600:Atp6v1c1 UTSW 15 38686863 missense probably benign 0.17
R6177:Atp6v1c1 UTSW 15 38673928 nonsense probably null
R6434:Atp6v1c1 UTSW 15 38677546 missense probably damaging 0.99
R6916:Atp6v1c1 UTSW 15 38677581 missense probably benign 0.00
R6973:Atp6v1c1 UTSW 15 38690550 missense probably damaging 1.00
R7395:Atp6v1c1 UTSW 15 38691705 makesense probably null
R7607:Atp6v1c1 UTSW 15 38683011 critical splice donor site probably null
R7712:Atp6v1c1 UTSW 15 38686805 missense probably benign 0.00
R8830:Atp6v1c1 UTSW 15 38677545 missense probably damaging 0.98
R9640:Atp6v1c1 UTSW 15 38689137 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-02-07