Incidental Mutation 'IGL01371:Atp6v1c1'
ID 76155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v1c1
Ensembl Gene ENSMUSG00000022295
Gene Name ATPase, H+ transporting, lysosomal V1 subunit C1
Synonyms 1700025B18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01371
Quality Score
Status
Chromosome 15
Chromosomal Location 38662177-38692690 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38683204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 198 (I198V)
Ref Sequence ENSEMBL: ENSMUSP00000022904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022904] [ENSMUST00000226533]
AlphaFold Q9Z1G3
Predicted Effect probably benign
Transcript: ENSMUST00000022904
AA Change: I198V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022904
Gene: ENSMUSG00000022295
AA Change: I198V

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 370 1.2e-168 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228475
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C T 6: 142,602,340 (GRCm39) R691Q probably benign Het
Ambra1 G T 2: 91,655,631 (GRCm39) G700W probably damaging Het
Bptf T C 11: 106,946,733 (GRCm39) N2353S probably benign Het
Cd84 A T 1: 171,713,937 (GRCm39) T312S probably benign Het
Chl1 G T 6: 103,692,325 (GRCm39) C1064F probably damaging Het
Clca4a T C 3: 144,666,433 (GRCm39) D473G probably damaging Het
Dsp A G 13: 38,377,593 (GRCm39) R1793G probably benign Het
Dync1h1 A G 12: 110,605,285 (GRCm39) N2374S probably benign Het
Ecpas A G 4: 58,809,718 (GRCm39) L1583P probably damaging Het
Gm43191 A T 3: 116,439,112 (GRCm39) I130N probably damaging Het
Gm5134 T G 10: 75,840,581 (GRCm39) L475R probably damaging Het
Grm1 A G 10: 10,595,783 (GRCm39) V615A probably benign Het
Inhca T C 9: 103,131,975 (GRCm39) E504G possibly damaging Het
Loxl1 T A 9: 58,201,705 (GRCm39) Q462L possibly damaging Het
Nwd1 T C 8: 73,401,743 (GRCm39) W755R probably damaging Het
Or10j27 A G 1: 172,958,098 (GRCm39) S229P possibly damaging Het
Or5b106 G A 19: 13,123,192 (GRCm39) T277I possibly damaging Het
Or5t17 A T 2: 86,833,267 (GRCm39) K318M probably benign Het
Otud4 T C 8: 80,400,390 (GRCm39) F1034L probably damaging Het
Pakap C A 4: 57,856,325 (GRCm39) D551E probably benign Het
Panx3 T G 9: 37,572,771 (GRCm39) T260P probably benign Het
Ppfia4 A T 1: 134,255,824 (GRCm39) S194T probably benign Het
Rnf135 T A 11: 80,080,081 (GRCm39) I124N probably benign Het
Rpf1 T C 3: 146,213,302 (GRCm39) N283S probably damaging Het
Smg5 A G 3: 88,266,951 (GRCm39) probably benign Het
Stard9 A G 2: 120,531,849 (GRCm39) E2702G probably benign Het
Tbk1 A T 10: 121,395,776 (GRCm39) M439K probably benign Het
Tmem235 T C 11: 117,753,132 (GRCm39) L85P possibly damaging Het
Trhde A T 10: 114,424,405 (GRCm39) V460E possibly damaging Het
Ttn T C 2: 76,620,608 (GRCm39) probably benign Het
Vmn1r83 A G 7: 12,055,160 (GRCm39) F299S probably benign Het
Other mutations in Atp6v1c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Atp6v1c1 APN 15 38,687,100 (GRCm39) missense probably damaging 0.99
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
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 2013-10-07