Incidental Mutation 'R6060:Atp6v1g3'
ID 483161
Institutional Source Beutler Lab
Gene Symbol Atp6v1g3
Ensembl Gene ENSMUSG00000026394
Gene Name ATPase, H+ transporting, lysosomal V1 subunit G3
Synonyms
MMRRC Submission 044426-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6060 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 138201476-138217200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138201582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 27 (K27E)
Ref Sequence ENSEMBL: ENSMUSP00000027643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027643]
AlphaFold Q8BMC1
Predicted Effect possibly damaging
Transcript: ENSMUST00000027643
AA Change: K27E

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027643
Gene: ENSMUSG00000026394
AA Change: K27E

DomainStartEndE-ValueType
Pfam:V-ATPase_G 3 107 3.2e-37 PFAM
Meta Mutation Damage Score 0.0951 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (56/56)
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
1110057P08Rik A G 16: 88,966,630 (GRCm39) probably null Het
Adh1 T C 3: 137,992,544 (GRCm39) I220T probably damaging Het
Ajap1 G A 4: 153,516,699 (GRCm39) T214I probably damaging Het
Ank2 A G 3: 126,749,601 (GRCm39) F476S probably damaging Het
BC034090 A G 1: 155,117,245 (GRCm39) I291T probably benign Het
Cnot9 T A 1: 74,556,285 (GRCm39) N27K probably benign Het
Cyp2c70 A T 19: 40,153,857 (GRCm39) L244* probably null Het
Cyp2d22 T C 15: 82,260,086 (GRCm39) T6A probably benign Het
D630045J12Rik T C 6: 38,107,799 (GRCm39) E1829G probably damaging Het
Dnajc4 G T 19: 6,968,093 (GRCm39) S61* probably null Het
Dpysl4 A G 7: 138,669,324 (GRCm39) M1V probably null Het
Fam149a T A 8: 45,811,799 (GRCm39) probably benign Het
Fam184b T C 5: 45,710,489 (GRCm39) E547G probably damaging Het
Fam47e T A 5: 92,727,472 (GRCm39) F127I possibly damaging Het
Ifi207 G A 1: 173,558,093 (GRCm39) T215I unknown Het
Iftap T C 2: 101,440,950 (GRCm39) K18E probably benign Het
Lpxn T C 19: 12,810,489 (GRCm39) L311P probably damaging Het
Lrp1b A T 2: 40,640,946 (GRCm39) N3499K Het
Mknk2 A T 10: 80,507,468 (GRCm39) D76E probably benign Het
Nectin2 A T 7: 19,451,700 (GRCm39) Y445N probably damaging Het
Ngb A C 12: 87,146,963 (GRCm39) S85A probably benign Het
Nrp1 C A 8: 129,224,419 (GRCm39) H727Q probably damaging Het
Or5b112 C T 19: 13,319,497 (GRCm39) A125V probably benign Het
Or6k2 C A 1: 173,986,907 (GRCm39) C189* probably null Het
Pold3 A C 7: 99,749,819 (GRCm39) Y115* probably null Het
Ppp1r12b C G 1: 134,883,262 (GRCm39) V87L probably benign Het
Ppp1r26 A G 2: 28,341,042 (GRCm39) N224S probably benign Het
Prl7a1 G A 13: 27,821,571 (GRCm39) P122S probably damaging Het
Rc3h2 T C 2: 37,289,612 (GRCm39) H400R possibly damaging Het
Rnf32 A T 5: 29,411,752 (GRCm39) I214L probably benign Het
Safb2 A T 17: 56,870,246 (GRCm39) probably null Het
Serpinb6e A G 13: 34,025,256 (GRCm39) C12R possibly damaging Het
Sh2b2 A T 5: 136,261,209 (GRCm39) N2K possibly damaging Het
Slc12a4 G A 8: 106,672,338 (GRCm39) A821V probably damaging Het
Slc41a1 A G 1: 131,767,972 (GRCm39) M179V probably benign Het
Slc9a3 A G 13: 74,299,004 (GRCm39) Y141C probably damaging Het
Tenm4 G A 7: 96,522,918 (GRCm39) V1450I probably damaging Het
Trmt1l A G 1: 151,333,331 (GRCm39) N642S possibly damaging Het
Ttll13 G A 7: 79,908,491 (GRCm39) R576H probably damaging Het
Zar1 T A 5: 72,738,272 (GRCm39) R43S probably benign Het
Zfp455 A G 13: 67,355,257 (GRCm39) Y175C probably damaging Het
Other mutations in Atp6v1g3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02711:Atp6v1g3 APN 1 138,211,419 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTGAGCTCACCTTGGCATC -3'
(R):5'- AAAACCCCTTCCTGGTGTGG -3'

Sequencing Primer
(F):5'- TCCAATCAGGCAAGTTTGGAAC -3'
(R):5'- GAGTGTGGAACATGCAGCTGC -3'
Posted On 2017-07-14