Incidental Mutation 'R3436:Atp6v1g1'
ID 267182
Institutional Source Beutler Lab
Gene Symbol Atp6v1g1
Ensembl Gene ENSMUSG00000039105
Gene Name ATPase, H+ transporting, lysosomal V1 subunit G1
Synonyms VAG1, Atp6g1, Vma10, ATP6J, 1810024D14Rik, lysosomal 13kDa
MMRRC Submission 040654-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R3436 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 63463002-63468938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63468255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 86 (N86S)
Ref Sequence ENSEMBL: ENSMUSP00000048770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035301]
AlphaFold Q9CR51
Predicted Effect probably benign
Transcript: ENSMUST00000035301
AA Change: N86S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048770
Gene: ENSMUSG00000039105
AA Change: N86S

DomainStartEndE-ValueType
Pfam:V-ATPase_G 3 107 2e-41 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (40/40)
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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambp T C 4: 63,067,721 (GRCm39) E163G probably benign Het
Angptl3 A T 4: 98,921,540 (GRCm39) K219N probably benign Het
Cadps A T 14: 12,616,158 (GRCm38) probably null Het
Ccdc146 A G 5: 21,502,003 (GRCm39) S804P possibly damaging Het
Cdc20b T C 13: 113,215,233 (GRCm39) I267T probably damaging Het
Cdh8 A G 8: 100,127,350 (GRCm39) probably benign Het
Dse G T 10: 34,028,470 (GRCm39) N873K probably benign Het
Ehd1 G T 19: 6,327,044 (GRCm39) E14* probably null Het
F8 A G X: 74,311,030 (GRCm39) probably benign Het
Flnb T C 14: 7,942,057 (GRCm38) V2345A probably damaging Het
Fndc1 T C 17: 7,969,189 (GRCm39) K1559E probably damaging Het
Ighg1 T C 12: 113,293,180 (GRCm39) E170G probably damaging Het
Kmt2b G T 7: 30,276,117 (GRCm39) P1794Q probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Med25 C A 7: 44,535,314 (GRCm39) R37L possibly damaging Het
Optc T C 1: 133,825,617 (GRCm39) D303G probably damaging Het
Or2n1d A G 17: 38,646,323 (GRCm39) I92V probably damaging Het
Or2n1e G A 17: 38,586,421 (GRCm39) G253D probably damaging Het
Or4c102 T A 2: 88,422,448 (GRCm39) F100Y probably damaging Het
Pkd1l2 T C 8: 117,767,478 (GRCm39) N1271D probably benign Het
Plpp2 A T 10: 79,363,647 (GRCm39) probably null Het
Polq A T 16: 36,882,699 (GRCm39) N1342I probably damaging Het
Prr16 A G 18: 51,436,195 (GRCm39) N225D probably benign Het
Pwwp2a C T 11: 43,597,015 (GRCm39) Q452* probably null Het
Slfn2 A T 11: 82,960,390 (GRCm39) H123L probably benign Het
Sort1 T A 3: 108,245,123 (GRCm39) I325N probably damaging Het
Tmem132e A G 11: 82,335,156 (GRCm39) Y654C probably damaging Het
Tmprss11b A T 5: 86,815,443 (GRCm39) Y48* probably null Het
Tpp2 T C 1: 43,979,304 (GRCm39) I67T probably damaging Het
Trdn G A 10: 33,344,191 (GRCm39) probably null Het
Trim14 C T 4: 46,523,739 (GRCm39) V100I possibly damaging Het
Trim17 T C 11: 58,856,059 (GRCm39) C39R probably damaging Het
Trim52 C T 14: 106,344,741 (GRCm39) P133L possibly damaging Het
Unc13b T C 4: 43,097,028 (GRCm39) probably benign Het
Vmn2r94 G A 17: 18,478,650 (GRCm39) probably benign Het
Vsig4 A G X: 95,334,422 (GRCm39) V29A probably benign Het
Washc4 T A 10: 83,405,866 (GRCm39) I454N probably benign Het
Wnk3 T A X: 150,069,300 (GRCm39) F886I probably benign Het
Ylpm1 T C 12: 85,096,644 (GRCm39) probably null Het
Zfp507 A T 7: 35,487,195 (GRCm39) Y234N probably damaging Het
Other mutations in Atp6v1g1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0694:Atp6v1g1 UTSW 4 63,468,230 (GRCm39) missense probably benign 0.42
R1401:Atp6v1g1 UTSW 4 63,466,878 (GRCm39) missense probably benign 0.42
R2086:Atp6v1g1 UTSW 4 63,468,304 (GRCm39) missense probably benign 0.00
R2870:Atp6v1g1 UTSW 4 63,468,258 (GRCm39) missense probably benign 0.00
R2870:Atp6v1g1 UTSW 4 63,468,258 (GRCm39) missense probably benign 0.00
R2871:Atp6v1g1 UTSW 4 63,468,258 (GRCm39) missense probably benign 0.00
R2871:Atp6v1g1 UTSW 4 63,468,258 (GRCm39) missense probably benign 0.00
R2872:Atp6v1g1 UTSW 4 63,468,258 (GRCm39) missense probably benign 0.00
R2872:Atp6v1g1 UTSW 4 63,468,258 (GRCm39) missense probably benign 0.00
R2873:Atp6v1g1 UTSW 4 63,468,258 (GRCm39) missense probably benign 0.00
R3437:Atp6v1g1 UTSW 4 63,468,255 (GRCm39) missense probably benign
R4580:Atp6v1g1 UTSW 4 63,468,269 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- CACACAGCTTTTCTCACAGGTTAC -3'
(R):5'- CCAGCTCTGTGGAGGTTTTC -3'

Sequencing Primer
(F):5'- CATTCTCTTACTAAGGAGCCGGG -3'
(R):5'- CCTATTCTATGGGGGCAGATCTC -3'
Posted On 2015-02-18