Incidental Mutation 'R0100:Atp6v0a4'
ID 17086
Institutional Source Beutler Lab
Gene Symbol Atp6v0a4
Ensembl Gene ENSMUSG00000038600
Gene Name ATPase, H+ transporting, lysosomal V0 subunit A4
Synonyms Atp6n1b, V-ATPase alpha 4
MMRRC Submission 038386-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0100 (G1)
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 38025418-38101521 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38053750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 351 (I351V)
Ref Sequence ENSEMBL: ENSMUSP00000110558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040259] [ENSMUST00000114908]
AlphaFold Q920R6
Predicted Effect probably benign
Transcript: ENSMUST00000040259
AA Change: I351V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: I351V

Pfam:V_ATPase_I 26 824 3.5e-293 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114908
AA Change: I351V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: I351V

Pfam:V_ATPase_I 27 823 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144752
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 90.3%
  • 3x: 88.1%
  • 10x: 82.7%
  • 20x: 75.2%
Validation Efficiency 89% (68/76)
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 intracellular compartments of eukaryotic cells. V-ATPase dependent 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. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display postnatal or premature lethality, hyperchloremic hypokalemic acidosis with hypocitraturia, inner ear defects, impaired hearing, and impaired olfaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,259,415 (GRCm39) C814R probably damaging Het
Aoc1 T C 6: 48,885,538 (GRCm39) I681T possibly damaging Het
Atp13a4 T C 16: 29,240,542 (GRCm39) H793R probably damaging Het
Bbof1 T A 12: 84,457,829 (GRCm39) D31E probably benign Het
Cpxm2 T A 7: 131,656,600 (GRCm39) H554L possibly damaging Het
Ddx55 C T 5: 124,694,845 (GRCm39) T91I probably damaging Het
Dhx57 T C 17: 80,582,585 (GRCm39) D340G possibly damaging Het
Dnah1 C T 14: 30,984,109 (GRCm39) probably null Het
Dpp9 C T 17: 56,512,854 (GRCm39) G118D possibly damaging Het
Etl4 T C 2: 20,344,716 (GRCm39) S4P probably benign Het
Fat4 A C 3: 39,034,397 (GRCm39) N2683T probably damaging Het
Gabrb2 A G 11: 42,378,141 (GRCm39) D119G probably damaging Het
Garre1 A G 7: 33,953,436 (GRCm39) I442T possibly damaging Het
Greb1 T A 12: 16,730,225 (GRCm39) Q1734L probably benign Het
Gtf2ird2 T C 5: 134,245,857 (GRCm39) L705P probably damaging Het
H13 T A 2: 152,531,783 (GRCm39) probably null Het
Hgs T G 11: 120,373,678 (GRCm39) Y708D possibly damaging Het
Hip1 T C 5: 135,465,307 (GRCm39) D367G probably benign Het
Ift140 C T 17: 25,309,928 (GRCm39) Q1112* probably null Het
Il17b A G 18: 61,823,342 (GRCm39) M59V probably benign Het
Lpin3 T C 2: 160,747,260 (GRCm39) Y829H probably damaging Het
Lrrk2 A T 15: 91,629,999 (GRCm39) N1230I probably damaging Het
Mindy2 C A 9: 70,514,731 (GRCm39) probably benign Het
Nup210 T G 6: 91,046,175 (GRCm39) E586A probably benign Het
Or1j17 A T 2: 36,578,923 (GRCm39) N303I probably benign Het
Or2bd2 C T 7: 6,443,399 (GRCm39) R167C probably damaging Het
Or5be3 T C 2: 86,863,939 (GRCm39) T209A probably benign Het
Osgepl1 A G 1: 53,362,372 (GRCm39) I405V probably damaging Het
Pdcd11 T C 19: 47,091,105 (GRCm39) S360P probably benign Het
Plekha6 T C 1: 133,197,915 (GRCm39) S271P probably damaging Het
Plekhs1 A G 19: 56,466,934 (GRCm39) E255G probably damaging Het
Pram1 T A 17: 33,860,373 (GRCm39) N313K possibly damaging Het
Rapgef5 C T 12: 117,685,034 (GRCm39) S261L probably benign Het
Spint5 T A 2: 164,558,920 (GRCm39) C49S probably damaging Het
Tex22 T A 12: 113,052,392 (GRCm39) I150N probably benign Het
Thoc6 A T 17: 23,888,824 (GRCm39) W195R probably damaging Het
Tmem106a T C 11: 101,477,084 (GRCm39) S98P probably benign Het
Tnfrsf18 A G 4: 156,112,823 (GRCm39) T170A probably benign Het
Tor1aip1 A T 1: 155,882,821 (GRCm39) D342E probably damaging Het
Trav7-6 T C 14: 53,954,529 (GRCm39) S20P probably damaging Het
Trpc6 C T 9: 8,653,035 (GRCm39) P614S probably damaging Het
Washc5 A G 15: 59,215,947 (GRCm39) F811L possibly damaging Het
Other mutations in Atp6v0a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Atp6v0a4 APN 6 38,069,725 (GRCm39) nonsense probably null
IGL01358:Atp6v0a4 APN 6 38,051,145 (GRCm39) missense probably damaging 1.00
IGL01781:Atp6v0a4 APN 6 38,051,095 (GRCm39) missense possibly damaging 0.91
IGL01934:Atp6v0a4 APN 6 38,028,481 (GRCm39) missense possibly damaging 0.90
IGL01953:Atp6v0a4 APN 6 38,031,552 (GRCm39) missense probably damaging 0.97
IGL03190:Atp6v0a4 APN 6 38,031,491 (GRCm39) missense probably benign 0.02
R0049:Atp6v0a4 UTSW 6 38,059,016 (GRCm39) missense probably damaging 1.00
R0049:Atp6v0a4 UTSW 6 38,059,016 (GRCm39) missense probably damaging 1.00
R0105:Atp6v0a4 UTSW 6 38,030,064 (GRCm39) splice site probably benign
R1569:Atp6v0a4 UTSW 6 38,027,560 (GRCm39) missense probably damaging 1.00
R1754:Atp6v0a4 UTSW 6 38,044,764 (GRCm39) missense probably benign
R2142:Atp6v0a4 UTSW 6 38,059,871 (GRCm39) nonsense probably null
R2162:Atp6v0a4 UTSW 6 38,065,581 (GRCm39) missense possibly damaging 0.89
R2433:Atp6v0a4 UTSW 6 38,058,964 (GRCm39) critical splice donor site probably null
R2892:Atp6v0a4 UTSW 6 38,029,952 (GRCm39) missense probably benign 0.00
R4599:Atp6v0a4 UTSW 6 38,055,737 (GRCm39) missense probably benign 0.01
R4687:Atp6v0a4 UTSW 6 38,069,400 (GRCm39) missense possibly damaging 0.95
R4716:Atp6v0a4 UTSW 6 38,037,999 (GRCm39) missense probably damaging 1.00
R4938:Atp6v0a4 UTSW 6 38,055,749 (GRCm39) missense possibly damaging 0.80
R5062:Atp6v0a4 UTSW 6 38,051,118 (GRCm39) missense probably benign 0.05
R5437:Atp6v0a4 UTSW 6 38,053,668 (GRCm39) missense probably damaging 0.97
R5440:Atp6v0a4 UTSW 6 38,069,752 (GRCm39) missense probably damaging 0.96
R5697:Atp6v0a4 UTSW 6 38,027,442 (GRCm39) splice site probably null
R5698:Atp6v0a4 UTSW 6 38,027,442 (GRCm39) splice site probably null
R6425:Atp6v0a4 UTSW 6 38,027,446 (GRCm39) missense possibly damaging 0.88
R7659:Atp6v0a4 UTSW 6 38,048,907 (GRCm39) missense probably damaging 1.00
R8004:Atp6v0a4 UTSW 6 38,027,484 (GRCm39) missense possibly damaging 0.93
R8270:Atp6v0a4 UTSW 6 38,051,164 (GRCm39) missense probably damaging 1.00
R8683:Atp6v0a4 UTSW 6 38,025,926 (GRCm39) makesense probably null
R9007:Atp6v0a4 UTSW 6 38,029,988 (GRCm39) missense probably benign
R9359:Atp6v0a4 UTSW 6 38,059,048 (GRCm39) missense probably benign 0.21
R9475:Atp6v0a4 UTSW 6 38,037,917 (GRCm39) missense probably damaging 1.00
Z1176:Atp6v0a4 UTSW 6 38,025,971 (GRCm39) missense possibly damaging 0.95
Posted On 2013-01-20