Incidental Mutation 'IGL00232:Atp6v0a4'
ID45051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v0a4
Ensembl Gene ENSMUSG00000038600
Gene NameATPase, H+ transporting, lysosomal V0 subunit A4
SynonymsV-ATPase alpha 4, Atp6n1b
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00232
Quality Score
Status
Chromosome6
Chromosomal Location38048483-38124586 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 38092790 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 56 (R56*)
Ref Sequence ENSEMBL: ENSMUSP00000110558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040259] [ENSMUST00000114908]
Predicted Effect probably null
Transcript: ENSMUST00000040259
AA Change: R56*
SMART Domains Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: R56*

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 824 3.5e-293 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114908
AA Change: R56*
SMART Domains Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: R56*

DomainStartEndE-ValueType
Pfam:V_ATPase_I 27 823 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138385
Coding Region Coverage
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 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700057G04Rik C T 9: 92,350,952 R43* probably null Het
4930407I10Rik C A 15: 82,066,380 Q1493K probably benign Het
Anapc1 A T 2: 128,645,130 probably benign Het
Armc8 T C 9: 99,505,734 probably null Het
Asz1 T G 6: 18,055,542 probably null Het
Bend6 T C 1: 33,883,538 D8G possibly damaging Het
Ccdc171 T A 4: 83,682,324 C870* probably null Het
Cd163 A G 6: 124,329,101 probably benign Het
Chd2 A G 7: 73,468,577 S1098P probably damaging Het
Col6a5 T G 9: 105,882,683 D1946A probably damaging Het
Gm6576 T A 15: 27,025,798 noncoding transcript Het
Gypa T G 8: 80,504,779 probably benign Het
Ighv9-3 T C 12: 114,141,071 probably benign Het
Itgb1 T G 8: 128,713,918 probably benign Het
Kctd15 A T 7: 34,650,745 probably null Het
Krtap13 A C 16: 88,751,535 S22A possibly damaging Het
Masp1 C T 16: 23,458,091 E555K possibly damaging Het
Med13l T A 5: 118,724,071 S360T probably damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mfsd13a A G 19: 46,366,519 Y45C probably damaging Het
Neb T C 2: 52,235,556 D3662G possibly damaging Het
Nkx6-1 T C 5: 101,659,505 D337G possibly damaging Het
Nlrc5 T C 8: 94,484,623 probably null Het
Palb2 T C 7: 122,121,064 H468R probably damaging Het
Rai1 T G 11: 60,185,391 Y94D probably damaging Het
Slc27a3 A T 3: 90,385,441 Y605* probably null Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Trpm7 T C 2: 126,829,031 E677G possibly damaging Het
Tstd2 A T 4: 46,120,002 probably benign Het
Unc5c T C 3: 141,788,940 I412T probably damaging Het
Other mutations in Atp6v0a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Atp6v0a4 APN 6 38074210 missense probably damaging 1.00
IGL01781:Atp6v0a4 APN 6 38074160 missense possibly damaging 0.91
IGL01934:Atp6v0a4 APN 6 38051546 missense possibly damaging 0.90
IGL01953:Atp6v0a4 APN 6 38054617 missense probably damaging 0.97
IGL03190:Atp6v0a4 APN 6 38054556 missense probably benign 0.02
R0049:Atp6v0a4 UTSW 6 38082081 missense probably damaging 1.00
R0049:Atp6v0a4 UTSW 6 38082081 missense probably damaging 1.00
R0100:Atp6v0a4 UTSW 6 38076815 missense probably benign
R0105:Atp6v0a4 UTSW 6 38053129 splice site probably benign
R1569:Atp6v0a4 UTSW 6 38050625 missense probably damaging 1.00
R1754:Atp6v0a4 UTSW 6 38067829 missense probably benign
R2142:Atp6v0a4 UTSW 6 38082936 nonsense probably null
R2162:Atp6v0a4 UTSW 6 38088646 missense possibly damaging 0.89
R2433:Atp6v0a4 UTSW 6 38082029 critical splice donor site probably null
R2892:Atp6v0a4 UTSW 6 38053017 missense probably benign 0.00
R4599:Atp6v0a4 UTSW 6 38078802 missense probably benign 0.01
R4687:Atp6v0a4 UTSW 6 38092465 missense possibly damaging 0.95
R4716:Atp6v0a4 UTSW 6 38061064 missense probably damaging 1.00
R4938:Atp6v0a4 UTSW 6 38078814 missense possibly damaging 0.80
R5062:Atp6v0a4 UTSW 6 38074183 missense probably benign 0.05
R5437:Atp6v0a4 UTSW 6 38076733 missense probably damaging 0.97
R5440:Atp6v0a4 UTSW 6 38092817 missense probably damaging 0.96
R5697:Atp6v0a4 UTSW 6 38050507 unclassified probably null
R5698:Atp6v0a4 UTSW 6 38050507 unclassified probably null
R6425:Atp6v0a4 UTSW 6 38050511 missense possibly damaging 0.88
Posted On2013-06-11