Incidental Mutation 'R5095:Atp6v1c1'
ID 395846
Institutional Source Beutler Lab
Gene Symbol Atp6v1c1
Ensembl Gene ENSMUSG00000022295
Gene Name ATPase, H+ transporting, lysosomal V1 subunit C1
Synonyms 1700025B18Rik
MMRRC Submission 042684-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5095 (G1)
Quality Score 221
Status Validated
Chromosome 15
Chromosomal Location 38662177-38692690 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 38679657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022904] [ENSMUST00000226533]
AlphaFold Q9Z1G3
Predicted Effect probably null
Transcript: ENSMUST00000022904
SMART Domains Protein: ENSMUSP00000022904
Gene: ENSMUSG00000022295

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
Meta Mutation Damage Score 0.9492 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (59/60)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021A07Rik G C 10: 21,301,492 (GRCm39) noncoding transcript Het
Adgrv1 C T 13: 81,243,606 (GRCm39) V6265I probably benign Het
Agbl1 G A 7: 76,369,881 (GRCm39) G660D probably damaging Het
Arap2 A G 5: 62,811,392 (GRCm39) Y1140H probably damaging Het
C1rb A T 6: 124,557,272 (GRCm39) R470W possibly damaging Het
Caskin2 T C 11: 115,691,564 (GRCm39) T1074A probably benign Het
Cdh19 T A 1: 110,882,391 (GRCm39) T34S probably benign Het
Csnk1a1 T A 18: 61,708,547 (GRCm39) Y175N probably damaging Het
F2 CAGAAAG CAG 2: 91,465,302 (GRCm39) probably benign Het
Flt4 T A 11: 49,517,986 (GRCm39) V342D possibly damaging Het
Frmd5 A T 2: 121,379,402 (GRCm39) C394S possibly damaging Het
Gm5414 T G 15: 101,532,473 (GRCm39) N550T probably benign Het
Hcn3 C A 3: 89,057,230 (GRCm39) R456L probably damaging Het
Htt T C 5: 34,981,739 (GRCm39) V893A possibly damaging Het
Ift46 A G 9: 44,698,146 (GRCm39) D203G probably damaging Het
Itga10 G T 3: 96,555,480 (GRCm39) V145L probably benign Het
Kcnh6 A G 11: 105,908,080 (GRCm39) D232G possibly damaging Het
Mbtd1 T C 11: 93,820,497 (GRCm39) S431P probably damaging Het
Mmp27 T A 9: 7,572,159 (GRCm39) W120R probably damaging Het
Mmp27 A T 9: 7,579,001 (GRCm39) D418V probably damaging Het
Myo5a A G 9: 75,059,302 (GRCm39) D510G probably damaging Het
Myo5a A T 9: 75,091,671 (GRCm39) K1179* probably null Het
Neto1 T C 18: 86,416,406 (GRCm39) S38P probably benign Het
Nos3 A G 5: 24,573,916 (GRCm39) probably benign Het
Nuggc C T 14: 65,872,539 (GRCm39) R512* probably null Het
Oas1e T A 5: 120,932,329 (GRCm39) K105* probably null Het
Omd T A 13: 49,743,174 (GRCm39) S75T possibly damaging Het
Or10a3m T C 7: 108,313,019 (GRCm39) F141S probably damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Pbrm1 A G 14: 30,754,487 (GRCm39) N190S probably benign Het
Picalm T C 7: 89,819,841 (GRCm39) F85L probably damaging Het
Polg A G 7: 79,110,048 (GRCm39) V360A possibly damaging Het
Prex1 T C 2: 166,423,841 (GRCm39) D1017G probably damaging Het
Prss56 G C 1: 87,115,833 (GRCm39) R569P probably damaging Het
Rab6b G A 9: 103,017,583 (GRCm39) G25R probably damaging Het
Rdh10 A G 1: 16,201,609 (GRCm39) T332A probably benign Het
Rheb A T 5: 25,012,639 (GRCm39) M115K probably benign Het
Rnf149 A T 1: 39,594,737 (GRCm39) D321E probably benign Het
Rps28 C T 17: 34,042,177 (GRCm39) probably null Het
Slc6a20b A G 9: 123,424,119 (GRCm39) V616A probably benign Het
Smarcc2 A G 10: 128,305,169 (GRCm39) K300R probably damaging Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Spata31h1 G T 10: 82,119,501 (GRCm39) A4503E probably damaging Het
Srp68 C T 11: 116,139,573 (GRCm39) V459M probably damaging Het
Stxbp4 C T 11: 90,439,801 (GRCm39) V346I probably benign Het
Syne2 A G 12: 75,999,600 (GRCm39) D2331G probably damaging Het
Ttn A T 2: 76,564,536 (GRCm39) Y28534N probably damaging Het
Usp44 A T 10: 93,682,707 (GRCm39) I386F possibly damaging Het
Vmn2r15 T C 5: 109,436,317 (GRCm39) probably null Het
Vmn2r72 T A 7: 85,387,061 (GRCm39) L834F probably damaging Het
Vps13b T A 15: 35,923,348 (GRCm39) I3741K probably damaging Het
Zdbf2 A G 1: 63,348,232 (GRCm39) T2204A possibly damaging Het
Zfp607b T A 7: 27,393,061 (GRCm39) probably benign 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
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
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

Sequencing Primer
Posted On 2016-06-21