Incidental Mutation 'R5377:Atp6v0a1'
ID 425632
Institutional Source Beutler Lab
Gene Symbol Atp6v0a1
Ensembl Gene ENSMUSG00000019302
Gene Name ATPase, H+ transporting, lysosomal V0 subunit A1
Synonyms Atp6n1a, Vpp-1, Vpp1, V-ATPase a1, Atp6n1
MMRRC Submission 042845-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5377 (G1)
Quality Score 147
Status Not validated
Chromosome 11
Chromosomal Location 101009452-101063719 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101055587 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 802 (H802R)
Ref Sequence ENSEMBL: ENSMUSP00000131848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044721] [ENSMUST00000092663] [ENSMUST00000103110] [ENSMUST00000168757]
AlphaFold Q9Z1G4
Predicted Effect probably damaging
Transcript: ENSMUST00000044721
AA Change: H802R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302
AA Change: H802R

Pfam:V_ATPase_I 26 829 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092663
AA Change: H796R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302
AA Change: H796R

Pfam:V_ATPase_I 26 823 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103110
AA Change: H803R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302
AA Change: H803R

Pfam:V_ATPase_I 27 829 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168757
AA Change: H802R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302
AA Change: H802R

Pfam:V_ATPase_I 26 829 N/A PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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 A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three 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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G T 6: 121,645,253 (GRCm38) V372F probably benign Het
Adcy10 G A 1: 165,519,895 (GRCm38) C393Y probably damaging Het
Adgrg7 A C 16: 56,730,306 (GRCm38) I681S possibly damaging Het
Akap8l T C 17: 32,321,511 (GRCm38) probably benign Het
Akr1a1 A T 4: 116,639,895 (GRCm38) V156E probably damaging Het
Alk T G 17: 71,895,739 (GRCm38) D1167A probably damaging Het
Ankrd11 T C 8: 122,893,714 (GRCm38) probably null Het
Aspm T A 1: 139,457,483 (GRCm38) N288K probably damaging Het
Aspm A G 1: 139,470,395 (GRCm38) probably null Het
Asxl2 G A 12: 3,474,618 (GRCm38) probably null Het
B4galnt1 A G 10: 127,171,822 (GRCm38) T531A possibly damaging Het
Ccdc114 C T 7: 45,942,082 (GRCm38) R257* probably null Het
Cecr2 A G 6: 120,756,569 (GRCm38) N506D possibly damaging Het
Crebrf T C 17: 26,759,865 (GRCm38) V509A probably damaging Het
Cyp4f40 A T 17: 32,675,616 (GRCm38) I413F probably null Het
Defb12 C A 8: 19,114,326 (GRCm38) probably null Het
Dnah2 T C 11: 69,421,848 (GRCm38) E4297G probably damaging Het
Dpysl5 A T 5: 30,791,513 (GRCm38) N371Y probably damaging Het
Eef1d G T 15: 75,903,189 (GRCm38) T207N probably benign Het
Esrrb C T 12: 86,519,009 (GRCm38) Q416* probably null Het
Exd2 T C 12: 80,489,448 (GRCm38) L284P probably damaging Het
Fat3 T A 9: 16,376,443 (GRCm38) I595F probably benign Het
Gm9920 A G 15: 55,108,975 (GRCm38) probably benign Het
Hephl1 T C 9: 15,069,788 (GRCm38) K783E probably damaging Het
Irs2 A G 8: 11,005,277 (GRCm38) S1052P probably benign Het
Kctd18 T C 1: 57,963,093 (GRCm38) I192V probably benign Het
Lama3 A G 18: 12,453,746 (GRCm38) D722G probably damaging Het
Lepr T C 4: 101,815,019 (GRCm38) V1080A possibly damaging Het
Lpin1 C T 12: 16,563,655 (GRCm38) G504S probably damaging Het
Lrit2 A C 14: 37,069,183 (GRCm38) Q273P possibly damaging Het
Mgea5 A T 19: 45,758,022 (GRCm38) Y779* probably null Het
Mlkl T A 8: 111,327,937 (GRCm38) E189D probably benign Het
Mttp C T 3: 138,105,029 (GRCm38) R608H probably benign Het
Nav2 T C 7: 49,589,160 (GRCm38) V2011A probably benign Het
Nos2 A T 11: 78,957,491 (GRCm38) I1075F probably benign Het
Npat A G 9: 53,550,036 (GRCm38) probably null Het
Nucks1 T C 1: 131,919,033 (GRCm38) F16L probably damaging Het
Nus1 T C 10: 52,429,213 (GRCm38) S150P possibly damaging Het
Olfr1230 G T 2: 89,297,162 (GRCm38) T36K probably damaging Het
Olfr881 A T 9: 37,992,612 (GRCm38) Y40F probably benign Het
Pclo A G 5: 14,681,353 (GRCm38) T3290A unknown Het
Pign A T 1: 105,657,812 (GRCm38) F4Y probably benign Het
Rfx4 A G 10: 84,860,542 (GRCm38) N233D possibly damaging Het
Rpgrip1 A T 14: 52,160,195 (GRCm38) M1325L possibly damaging Het
Rufy4 T C 1: 74,147,663 (GRCm38) C537R probably damaging Het
Scaf11 T A 15: 96,417,120 (GRCm38) H1227L possibly damaging Het
Sec31b G T 19: 44,518,637 (GRCm38) P840T probably damaging Het
Slc16a9 T A 10: 70,283,128 (GRCm38) L426I probably damaging Het
Slc17a2 T C 13: 23,812,592 (GRCm38) S27P probably damaging Het
Slc22a30 G A 19: 8,344,393 (GRCm38) Q436* probably null Het
Tacc1 A G 8: 25,182,283 (GRCm38) S310P possibly damaging Het
Tmem245 G A 4: 56,947,084 (GRCm38) R110C probably damaging Het
Trip12 T C 1: 84,757,431 (GRCm38) Y953C probably damaging Het
Trpm7 C A 2: 126,842,855 (GRCm38) probably null Het
Ush2a G A 1: 188,912,123 (GRCm38) V4561I probably benign Het
Vmn1r192 C T 13: 22,187,631 (GRCm38) V140I probably benign Het
Vmn2r66 A T 7: 85,006,818 (GRCm38) I330N probably damaging Het
Vmn2r99 T C 17: 19,379,269 (GRCm38) V405A probably damaging Het
Wdhd1 A C 14: 47,272,221 (GRCm38) V172G probably benign Het
Zfhx3 C T 8: 108,951,185 (GRCm38) R2956C possibly damaging Het
Zfp446 T C 7: 12,982,251 (GRCm38) L283P possibly damaging Het
Zfp82 T C 7: 30,057,166 (GRCm38) K164E probably damaging Het
Other mutations in Atp6v0a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687:Atp6v0a1 APN 11 101,030,505 (GRCm38) critical splice donor site probably null
IGL01024:Atp6v0a1 APN 11 101,048,439 (GRCm38) missense probably benign 0.00
IGL01390:Atp6v0a1 APN 11 101,043,802 (GRCm38) missense probably benign 0.01
IGL02214:Atp6v0a1 APN 11 101,039,840 (GRCm38) missense probably benign 0.01
IGL02639:Atp6v0a1 APN 11 101,055,518 (GRCm38) missense possibly damaging 0.90
R0125:Atp6v0a1 UTSW 11 101,038,851 (GRCm38) splice site probably null
R0193:Atp6v0a1 UTSW 11 101,048,482 (GRCm38) missense possibly damaging 0.90
R0265:Atp6v0a1 UTSW 11 101,048,515 (GRCm38) missense possibly damaging 0.80
R0973:Atp6v0a1 UTSW 11 101,055,491 (GRCm38) nonsense probably null
R0973:Atp6v0a1 UTSW 11 101,055,491 (GRCm38) nonsense probably null
R0974:Atp6v0a1 UTSW 11 101,055,491 (GRCm38) nonsense probably null
R1460:Atp6v0a1 UTSW 11 101,033,998 (GRCm38) missense probably damaging 1.00
R1580:Atp6v0a1 UTSW 11 101,029,204 (GRCm38) missense probably damaging 1.00
R1625:Atp6v0a1 UTSW 11 101,055,554 (GRCm38) missense probably damaging 1.00
R1644:Atp6v0a1 UTSW 11 101,038,786 (GRCm38) missense possibly damaging 0.65
R1779:Atp6v0a1 UTSW 11 101,026,685 (GRCm38) missense probably benign 0.01
R2895:Atp6v0a1 UTSW 11 101,044,598 (GRCm38) missense probably benign
R2926:Atp6v0a1 UTSW 11 101,043,948 (GRCm38) missense probably damaging 0.99
R3727:Atp6v0a1 UTSW 11 101,030,420 (GRCm38) missense probably benign 0.01
R3943:Atp6v0a1 UTSW 11 101,055,517 (GRCm38) missense probably benign 0.00
R4820:Atp6v0a1 UTSW 11 101,042,950 (GRCm38) missense probably benign 0.00
R5119:Atp6v0a1 UTSW 11 101,020,515 (GRCm38) missense probably benign 0.02
R5250:Atp6v0a1 UTSW 11 101,043,044 (GRCm38) missense possibly damaging 0.94
R5393:Atp6v0a1 UTSW 11 101,038,807 (GRCm38) missense possibly damaging 0.95
R5497:Atp6v0a1 UTSW 11 101,029,185 (GRCm38) missense probably damaging 1.00
R5787:Atp6v0a1 UTSW 11 101,018,574 (GRCm38) missense probably benign 0.04
R6054:Atp6v0a1 UTSW 11 101,039,889 (GRCm38) missense possibly damaging 0.91
R6076:Atp6v0a1 UTSW 11 101,055,060 (GRCm38) missense probably damaging 1.00
R6889:Atp6v0a1 UTSW 11 101,029,183 (GRCm38) missense possibly damaging 0.87
R7035:Atp6v0a1 UTSW 11 101,027,357 (GRCm38) missense probably damaging 0.97
R7084:Atp6v0a1 UTSW 11 101,034,042 (GRCm38) missense probably damaging 1.00
R7212:Atp6v0a1 UTSW 11 101,043,957 (GRCm38) missense probably benign 0.08
R8289:Atp6v0a1 UTSW 11 101,034,105 (GRCm38) missense probably damaging 1.00
R8461:Atp6v0a1 UTSW 11 101,044,574 (GRCm38) missense possibly damaging 0.60
R8680:Atp6v0a1 UTSW 11 101,062,403 (GRCm38) makesense probably null
R8725:Atp6v0a1 UTSW 11 101,029,189 (GRCm38) missense possibly damaging 0.94
R8727:Atp6v0a1 UTSW 11 101,029,189 (GRCm38) missense possibly damaging 0.94
R8935:Atp6v0a1 UTSW 11 101,038,693 (GRCm38) missense possibly damaging 0.90
R9658:Atp6v0a1 UTSW 11 101,018,588 (GRCm38) missense probably benign 0.18
R9762:Atp6v0a1 UTSW 11 101,055,601 (GRCm38) missense possibly damaging 0.46
R9779:Atp6v0a1 UTSW 11 101,034,112 (GRCm38) missense probably damaging 1.00
X0023:Atp6v0a1 UTSW 11 101,044,597 (GRCm38) missense probably benign 0.02
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-08-04