Incidental Mutation 'IGL02711:Atp6v1g3'
ID 304577
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v1g3
Ensembl Gene ENSMUSG00000026394
Gene Name ATPase, H+ transporting, lysosomal V1 subunit G3
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL02711
Quality Score
Status
Chromosome 1
Chromosomal Location 138201476-138217200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 138211419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 33 (L33Q)
Ref Sequence ENSEMBL: ENSMUSP00000027643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027643]
AlphaFold Q8BMC1
Predicted Effect probably damaging
Transcript: ENSMUST00000027643
AA Change: L33Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027643
Gene: ENSMUSG00000026394
AA Change: L33Q

DomainStartEndE-ValueType
Pfam:V-ATPase_G 3 107 3.2e-37 PFAM
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 eukaryotic intracellular organelles. V-ATPase dependent organelle 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 encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,773,245 (GRCm39) probably null Het
Adamts10 T A 17: 33,757,246 (GRCm39) M400K probably damaging Het
Adamts17 G A 7: 66,701,788 (GRCm39) probably benign Het
Adh5 A G 3: 138,160,434 (GRCm39) K323E probably damaging Het
Angptl2 T C 2: 33,118,255 (GRCm39) W10R probably benign Het
Arhgap15 T C 2: 44,006,674 (GRCm39) F264L possibly damaging Het
Baz2b A T 2: 59,747,849 (GRCm39) probably benign Het
Capn11 A G 17: 45,943,341 (GRCm39) F611S probably damaging Het
Cep152 T A 2: 125,405,862 (GRCm39) T1557S possibly damaging Het
Cep76 A T 18: 67,771,406 (GRCm39) S75R probably benign Het
Cps1 A G 1: 67,251,676 (GRCm39) probably benign Het
Dbf4 G T 5: 8,458,235 (GRCm39) A199E probably benign Het
Gldc C T 19: 30,122,546 (GRCm39) probably null Het
Hspa14 G A 2: 3,503,557 (GRCm39) A117V probably benign Het
Igkv4-80 G A 6: 68,993,801 (GRCm39) P30L probably damaging Het
Itga2b A T 11: 102,356,551 (GRCm39) W292R possibly damaging Het
Kansl1 A T 11: 104,226,401 (GRCm39) S982T probably damaging Het
Klhdc7b A T 15: 89,272,246 (GRCm39) K1043* probably null Het
Kmt2a A T 9: 44,735,820 (GRCm39) probably benign Het
Krt86 T C 15: 101,371,543 (GRCm39) Y38H probably damaging Het
Lingo4 T C 3: 94,310,700 (GRCm39) I546T probably benign Het
Lrrk1 A G 7: 65,980,515 (GRCm39) S222P probably damaging Het
Lrrk2 T C 15: 91,570,025 (GRCm39) V178A possibly damaging Het
Maml2 T C 9: 13,531,359 (GRCm39) V191A probably benign Het
Msh3 T C 13: 92,487,819 (GRCm39) T133A probably damaging Het
Nck1 T C 9: 100,390,673 (GRCm39) D12G probably damaging Het
Nox4 T C 7: 87,046,076 (GRCm39) Y572H probably damaging Het
Nqo1 A T 8: 108,119,563 (GRCm39) L30Q probably damaging Het
Or5ak24 A T 2: 85,261,083 (GRCm39) V30E probably damaging Het
Oxr1 A G 15: 41,517,067 (GRCm39) probably benign Het
Pcare T C 17: 72,056,377 (GRCm39) D1100G probably benign Het
Pcdhb10 A C 18: 37,545,779 (GRCm39) D285A possibly damaging Het
Pclo A G 5: 14,572,322 (GRCm39) N569S unknown Het
Ppfibp1 T A 6: 146,927,736 (GRCm39) Y794* probably null Het
Ripor3 T G 2: 167,848,200 (GRCm39) probably benign Het
Rpe65 C A 3: 159,328,514 (GRCm39) H441N possibly damaging Het
St14 A G 9: 31,001,196 (GRCm39) V845A probably benign Het
Tmem116 T A 5: 121,625,804 (GRCm39) probably benign Het
Tnfrsf11b A T 15: 54,119,532 (GRCm39) D147E probably benign Het
Ttn C A 2: 76,560,466 (GRCm39) G27566* probably null Het
Zscan18 G T 7: 12,509,044 (GRCm39) probably benign Het
Other mutations in Atp6v1g3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4299:Atp6v1g3 UTSW 1 138,211,462 (GRCm39) nonsense probably null
R5411:Atp6v1g3 UTSW 1 138,215,627 (GRCm39) missense probably benign 0.31
R5642:Atp6v1g3 UTSW 1 138,211,480 (GRCm39) missense probably damaging 0.99
R6060:Atp6v1g3 UTSW 1 138,201,582 (GRCm39) missense possibly damaging 0.89
R6328:Atp6v1g3 UTSW 1 138,215,570 (GRCm39) missense probably benign 0.33
R7203:Atp6v1g3 UTSW 1 138,215,538 (GRCm39) missense probably damaging 0.97
T0722:Atp6v1g3 UTSW 1 138,201,591 (GRCm39) splice site probably benign
Z1187:Atp6v1g3 UTSW 1 138,201,582 (GRCm39) missense possibly damaging 0.89
Z1189:Atp6v1g3 UTSW 1 138,201,582 (GRCm39) missense possibly damaging 0.89
Z1190:Atp6v1g3 UTSW 1 138,201,582 (GRCm39) missense possibly damaging 0.89
Z1192:Atp6v1g3 UTSW 1 138,201,582 (GRCm39) missense possibly damaging 0.89
Posted On 2015-04-16