Incidental Mutation 'R7607:Atp6v1c1'
ID 588400
Institutional Source Beutler Lab
Gene Symbol Atp6v1c1
Ensembl Gene ENSMUSG00000022295
Gene Name ATPase, H+ transporting, lysosomal V1 subunit C1
Synonyms 1700025B18Rik
MMRRC Submission 045677-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7607 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 38661933-38692446 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 38683011 bp (GRCm38)
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 probably benign
Transcript: ENSMUST00000226533
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (69/70)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010K14Rik A T 11: 70,237,557 (GRCm38) H30Q probably damaging Het
1700012P22Rik T A 4: 144,419,762 (GRCm38) H107L probably damaging Het
A930009A15Rik G A 10: 115,581,989 (GRCm38) probably null Het
Abca7 T C 10: 80,011,833 (GRCm38) L1779P probably damaging Het
Aff1 G A 5: 103,849,459 (GRCm38) V1140I possibly damaging Het
Ano2 C T 6: 125,712,419 (GRCm38) A169V probably damaging Het
Atat1 T C 17: 35,909,107 (GRCm38) Y101C possibly damaging Het
Atp7b T G 8: 22,011,506 (GRCm38) K912T probably damaging Het
Ceacam14 T C 7: 17,814,321 (GRCm38) V112A possibly damaging Het
Cobll1 T C 2: 65,095,857 (GRCm38) N1119S probably benign Het
Csmd1 G T 8: 15,918,331 (GRCm38) Q3099K possibly damaging Het
Cyp3a25 A G 5: 145,984,981 (GRCm38) V381A possibly damaging Het
Dctn1 C T 6: 83,195,069 (GRCm38) R948* probably null Het
Dhrs3 A G 4: 144,923,940 (GRCm38) T219A probably benign Het
Epha7 C T 4: 28,871,937 (GRCm38) S422L probably benign Het
Esrp1 A G 4: 11,384,449 (GRCm38) V78A probably damaging Het
Evc2 A G 5: 37,386,856 (GRCm38) T650A possibly damaging Het
Exoc6b T A 6: 84,989,409 (GRCm38) K194N possibly damaging Het
Fer1l6 G A 15: 58,662,732 (GRCm38) W1809* probably null Het
Frmd4a T A 2: 4,591,936 (GRCm38) L156* probably null Het
Gk5 A T 9: 96,153,210 (GRCm38) probably null Het
Gm3573 A G 14: 42,189,750 (GRCm38) F8L probably benign Het
Gm906 T C 13: 50,250,260 (GRCm38) E2G possibly damaging Het
Gm9767 G A 10: 26,078,940 (GRCm38) C130Y unknown Het
Grip2 T C 6: 91,788,412 (GRCm38) T30A probably benign Het
Gskip C A 12: 105,698,897 (GRCm38) A65E possibly damaging Het
Gtf2e2 A G 8: 33,776,465 (GRCm38) R259G probably benign Het
Gucy1b2 T A 14: 62,419,177 (GRCm38) I244F probably damaging Het
Gxylt2 G T 6: 100,798,190 (GRCm38) V357L possibly damaging Het
Hivep3 CGG CG 4: 120,097,911 (GRCm38) 1141 probably null Het
Igdcc4 C T 9: 65,133,758 (GRCm38) P1024S possibly damaging Het
Ino80 A T 2: 119,382,269 (GRCm38) probably null Het
Knl1 T C 2: 119,095,133 (GRCm38) F1881S possibly damaging Het
Mbd6 T C 10: 127,285,230 (GRCm38) E518G unknown Het
Mlh1 A G 9: 111,229,890 (GRCm38) S689P probably damaging Het
Mmrn2 T C 14: 34,398,940 (GRCm38) I589T possibly damaging Het
Mtmr12 C T 15: 12,257,708 (GRCm38) Q291* probably null Het
Mup8 T A 4: 60,222,035 (GRCm38) I33F probably benign Het
Mylk C T 16: 34,894,814 (GRCm38) P504L probably benign Het
Ntrk3 C T 7: 78,250,873 (GRCm38) A573T probably benign Het
Obscn G T 11: 58,998,265 (GRCm38) S7560R unknown Het
Olfr24 A G 9: 18,754,882 (GRCm38) F251S possibly damaging Het
Olfr617 A C 7: 103,584,930 (GRCm38) T303P probably damaging Het
Pde1c T C 6: 56,150,628 (GRCm38) T391A probably damaging Het
Pla2g4d T A 2: 120,288,976 (GRCm38) H19L probably benign Het
Plce1 C A 19: 38,524,752 (GRCm38) A165E probably benign Het
Polr1a T C 6: 71,913,021 (GRCm38) S75P probably benign Het
Psg21 T C 7: 18,654,783 (GRCm38) E128G probably benign Het
Radil A T 5: 142,494,795 (GRCm38) M635K probably damaging Het
Radil A G 5: 142,506,613 (GRCm38) I420T probably damaging Het
Rnase11 G A 14: 51,049,572 (GRCm38) T175I probably damaging Het
Robo1 C T 16: 72,563,738 (GRCm38) P13S Het
Slc18a2 C A 19: 59,284,358 (GRCm38) A364D probably benign Het
Snph C T 2: 151,594,586 (GRCm38) D141N probably damaging Het
Snrnp70 T C 7: 45,392,264 (GRCm38) K70R possibly damaging Het
Snx33 T C 9: 56,926,713 (GRCm38) D24G probably benign Het
Spag6 T A 2: 18,731,962 (GRCm38) D165E possibly damaging Het
Spata31 T G 13: 64,921,592 (GRCm38) L518R probably damaging Het
Sspo G A 6: 48,489,727 (GRCm38) V4059M probably damaging Het
St6galnac2 T C 11: 116,679,979 (GRCm38) Y261C probably damaging Het
Stoml1 A G 9: 58,256,658 (GRCm38) R87G probably damaging Het
Suv39h2 T C 2: 3,474,829 (GRCm38) T40A unknown Het
Terb2 G T 2: 122,186,475 (GRCm38) G26W probably damaging Het
Tmem62 T C 2: 120,996,440 (GRCm38) I406T probably benign Het
Tnfrsf11a G A 1: 105,844,732 (GRCm38) V582I probably benign Het
Tpsg1 G T 17: 25,373,210 (GRCm38) G86V probably damaging Het
Unc13c T C 9: 73,669,535 (GRCm38) D1480G probably damaging Het
Urb1 CACTTAC CAC 16: 90,772,573 (GRCm38) probably benign Het
Vmn1r48 C A 6: 90,035,980 (GRCm38) V288L probably benign Het
Vmn2r13 A G 5: 109,173,640 (GRCm38) V397A probably damaging Het
Vmn2r98 A G 17: 19,067,308 (GRCm38) N468D possibly damaging Het
Zfhx2 G T 14: 55,066,231 (GRCm38) T1432K possibly damaging Het
Zswim5 T A 4: 116,986,742 (GRCm38) D992E possibly damaging Het
Other mutations in Atp6v1c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Atp6v1c1 APN 15 38,686,856 (GRCm38) missense probably damaging 0.99
IGL01371:Atp6v1c1 APN 15 38,682,960 (GRCm38) missense probably benign
IGL02987:Atp6v1c1 APN 15 38,690,562 (GRCm38) missense possibly damaging 0.70
P0029:Atp6v1c1 UTSW 15 38,686,902 (GRCm38) unclassified probably benign
R0550:Atp6v1c1 UTSW 15 38,682,929 (GRCm38) splice site probably benign
R0669:Atp6v1c1 UTSW 15 38,677,528 (GRCm38) missense probably benign 0.00
R2033:Atp6v1c1 UTSW 15 38,673,966 (GRCm38) critical splice donor site probably null
R3021:Atp6v1c1 UTSW 15 38,689,216 (GRCm38) missense possibly damaging 0.75
R4475:Atp6v1c1 UTSW 15 38,677,573 (GRCm38) missense probably benign 0.03
R4612:Atp6v1c1 UTSW 15 38,677,612 (GRCm38) missense probably damaging 1.00
R4798:Atp6v1c1 UTSW 15 38,689,176 (GRCm38) missense probably damaging 1.00
R5095:Atp6v1c1 UTSW 15 38,679,413 (GRCm38) critical splice donor site probably null
R5600:Atp6v1c1 UTSW 15 38,686,863 (GRCm38) missense probably benign 0.17
R6177:Atp6v1c1 UTSW 15 38,673,928 (GRCm38) nonsense probably null
R6434:Atp6v1c1 UTSW 15 38,677,546 (GRCm38) missense probably damaging 0.99
R6916:Atp6v1c1 UTSW 15 38,677,581 (GRCm38) missense probably benign 0.00
R6973:Atp6v1c1 UTSW 15 38,690,550 (GRCm38) missense probably damaging 1.00
R7395:Atp6v1c1 UTSW 15 38,691,705 (GRCm38) makesense probably null
R7712:Atp6v1c1 UTSW 15 38,686,805 (GRCm38) missense probably benign 0.00
R8830:Atp6v1c1 UTSW 15 38,677,545 (GRCm38) missense probably damaging 0.98
R9195:Atp6v1c1 UTSW 15 38,673,954 (GRCm38) missense probably damaging 1.00
R9640:Atp6v1c1 UTSW 15 38,689,137 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-24