Incidental Mutation 'R3727:Atp6v0a1'
ID 270841
Institutional Source Beutler Lab
Gene Symbol Atp6v0a1
Ensembl Gene ENSMUSG00000019302
Gene Name ATPase, H+ transporting, lysosomal V0 subunit A1
Synonyms V-ATPase a1, Vpp-1, Vpp1, Atp6n1, Atp6n1a
MMRRC Submission 040718-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3727 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 100900278-100954545 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100921246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 243 (S243T)
Ref Sequence ENSEMBL: ENSMUSP00000131848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044721] [ENSMUST00000092663] [ENSMUST00000103110] [ENSMUST00000168757]
AlphaFold Q9Z1G4
Predicted Effect probably benign
Transcript: ENSMUST00000044721
AA Change: S243T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302
AA Change: S243T

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 829 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092663
AA Change: S243T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302
AA Change: S243T

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 823 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103110
AA Change: S250T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302
AA Change: S250T

DomainStartEndE-ValueType
Pfam:V_ATPase_I 27 829 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154896
Predicted Effect probably benign
Transcript: ENSMUST00000168757
AA Change: S243T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302
AA Change: S243T

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 829 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185166
Meta Mutation Damage Score 0.0758 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (39/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 C T 15: 72,985,706 (GRCm39) V630M probably damaging Het
Alk T C 17: 72,208,395 (GRCm39) probably benign Het
BC035044 C A 6: 128,867,822 (GRCm39) G37* probably null Het
C3 G T 17: 57,514,379 (GRCm39) N1435K possibly damaging Het
Caly T C 7: 139,650,417 (GRCm39) E175G probably damaging Het
Ccng2 T C 5: 93,422,810 (GRCm39) F330S probably damaging Het
Cemip2 G A 19: 21,822,075 (GRCm39) A1157T probably benign Het
Cyp2c38 A G 19: 39,380,739 (GRCm39) probably benign Het
Cypt1 T A X: 16,389,674 (GRCm39) L128* probably null Het
Dmgdh A G 13: 93,828,575 (GRCm39) N239D probably damaging Het
Dnah8 C T 17: 30,958,622 (GRCm39) Q2155* probably null Het
Dpp3 A G 19: 4,973,213 (GRCm39) I127T probably benign Het
Eps15 G T 4: 109,227,882 (GRCm39) probably benign Het
Exosc10 A G 4: 148,649,734 (GRCm39) D388G probably damaging Het
Flt3 C A 5: 147,291,733 (GRCm39) R572S probably damaging Het
Gm44501 T C 17: 40,887,506 (GRCm39) F8S unknown Het
Hormad2 C A 11: 4,358,598 (GRCm39) G270C probably benign Het
Ifrd2 C T 9: 107,468,881 (GRCm39) R40* probably null Het
Ina G A 19: 47,004,158 (GRCm39) R322H possibly damaging Het
Kif13b A G 14: 65,003,197 (GRCm39) probably benign Het
Lrp2 T C 2: 69,340,773 (GRCm39) N1034S probably damaging Het
Macf1 T A 4: 123,353,104 (GRCm39) E1770V probably damaging Het
Mpi T C 9: 57,452,132 (GRCm39) I381M possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nt5c C T 11: 115,381,474 (GRCm39) W185* probably null Het
Or2j3 A T 17: 38,616,310 (GRCm39) I14N possibly damaging Het
Or2y1e G A 11: 49,218,622 (GRCm39) R128H probably benign Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Pdzrn3 T A 6: 101,133,906 (GRCm39) D441V probably damaging Het
Rab42 A G 4: 132,029,964 (GRCm39) M86T probably benign Het
Slc52a3 C T 2: 151,847,701 (GRCm39) P270S probably benign Het
Stpg2 T C 3: 139,004,257 (GRCm39) F278S probably damaging Het
Styxl2 G A 1: 165,927,075 (GRCm39) R846C probably damaging Het
Tmem240 T C 4: 155,824,235 (GRCm39) probably benign Het
Vmn2r22 A G 6: 123,627,584 (GRCm39) L4P possibly damaging Het
Vmn2r95 C T 17: 18,661,744 (GRCm39) Q497* probably null Het
Wnk1 T C 6: 119,969,414 (GRCm39) H347R probably damaging Het
Zmym2 A T 14: 57,156,806 (GRCm39) probably benign Het
Other mutations in Atp6v0a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687:Atp6v0a1 APN 11 100,921,331 (GRCm39) critical splice donor site probably null
IGL01024:Atp6v0a1 APN 11 100,939,265 (GRCm39) missense probably benign 0.00
IGL01390:Atp6v0a1 APN 11 100,934,628 (GRCm39) missense probably benign 0.01
IGL02214:Atp6v0a1 APN 11 100,930,666 (GRCm39) missense probably benign 0.01
IGL02639:Atp6v0a1 APN 11 100,946,344 (GRCm39) missense possibly damaging 0.90
R0125:Atp6v0a1 UTSW 11 100,929,677 (GRCm39) splice site probably null
R0193:Atp6v0a1 UTSW 11 100,939,308 (GRCm39) missense possibly damaging 0.90
R0265:Atp6v0a1 UTSW 11 100,939,341 (GRCm39) missense possibly damaging 0.80
R0973:Atp6v0a1 UTSW 11 100,946,317 (GRCm39) nonsense probably null
R0973:Atp6v0a1 UTSW 11 100,946,317 (GRCm39) nonsense probably null
R0974:Atp6v0a1 UTSW 11 100,946,317 (GRCm39) nonsense probably null
R1460:Atp6v0a1 UTSW 11 100,924,824 (GRCm39) missense probably damaging 1.00
R1580:Atp6v0a1 UTSW 11 100,920,030 (GRCm39) missense probably damaging 1.00
R1625:Atp6v0a1 UTSW 11 100,946,380 (GRCm39) missense probably damaging 1.00
R1644:Atp6v0a1 UTSW 11 100,929,612 (GRCm39) missense possibly damaging 0.65
R1779:Atp6v0a1 UTSW 11 100,917,511 (GRCm39) missense probably benign 0.01
R2895:Atp6v0a1 UTSW 11 100,935,424 (GRCm39) missense probably benign
R2926:Atp6v0a1 UTSW 11 100,934,774 (GRCm39) missense probably damaging 0.99
R3943:Atp6v0a1 UTSW 11 100,946,343 (GRCm39) missense probably benign 0.00
R4820:Atp6v0a1 UTSW 11 100,933,776 (GRCm39) missense probably benign 0.00
R5119:Atp6v0a1 UTSW 11 100,911,341 (GRCm39) missense probably benign 0.02
R5250:Atp6v0a1 UTSW 11 100,933,870 (GRCm39) missense possibly damaging 0.94
R5377:Atp6v0a1 UTSW 11 100,946,413 (GRCm39) missense probably damaging 1.00
R5393:Atp6v0a1 UTSW 11 100,929,633 (GRCm39) missense possibly damaging 0.95
R5497:Atp6v0a1 UTSW 11 100,920,011 (GRCm39) missense probably damaging 1.00
R5787:Atp6v0a1 UTSW 11 100,909,400 (GRCm39) missense probably benign 0.04
R6054:Atp6v0a1 UTSW 11 100,930,715 (GRCm39) missense possibly damaging 0.91
R6076:Atp6v0a1 UTSW 11 100,945,886 (GRCm39) missense probably damaging 1.00
R6889:Atp6v0a1 UTSW 11 100,920,009 (GRCm39) missense possibly damaging 0.87
R7035:Atp6v0a1 UTSW 11 100,918,183 (GRCm39) missense probably damaging 0.97
R7084:Atp6v0a1 UTSW 11 100,924,868 (GRCm39) missense probably damaging 1.00
R7212:Atp6v0a1 UTSW 11 100,934,783 (GRCm39) missense probably benign 0.08
R8289:Atp6v0a1 UTSW 11 100,924,931 (GRCm39) missense probably damaging 1.00
R8461:Atp6v0a1 UTSW 11 100,935,400 (GRCm39) missense possibly damaging 0.60
R8680:Atp6v0a1 UTSW 11 100,953,229 (GRCm39) makesense probably null
R8725:Atp6v0a1 UTSW 11 100,920,015 (GRCm39) missense possibly damaging 0.94
R8727:Atp6v0a1 UTSW 11 100,920,015 (GRCm39) missense possibly damaging 0.94
R8935:Atp6v0a1 UTSW 11 100,929,519 (GRCm39) missense possibly damaging 0.90
R9658:Atp6v0a1 UTSW 11 100,909,414 (GRCm39) missense probably benign 0.18
R9762:Atp6v0a1 UTSW 11 100,946,427 (GRCm39) missense possibly damaging 0.46
R9779:Atp6v0a1 UTSW 11 100,924,938 (GRCm39) missense probably damaging 1.00
X0023:Atp6v0a1 UTSW 11 100,935,423 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CTGTAGAGAATGTCAAGACTGCTC -3'
(R):5'- TTGGTATCCAACTGCTACAGG -3'

Sequencing Primer
(F):5'- CAAGACTGCTCGGCATTATTG -3'
(R):5'- GGTGCCTCAACAAACTGTCAAGG -3'
Posted On 2015-03-18