Incidental Mutation 'IGL01781:Atp6v0a4'
ID 153920
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v0a4
Ensembl Gene ENSMUSG00000038600
Gene Name ATPase, H+ transporting, lysosomal V0 subunit A4
Synonyms V-ATPase alpha 4, Atp6n1b
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01781
Quality Score
Status
Chromosome 6
Chromosomal Location 38048483-38124586 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38074160 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 428 (N428D)
Ref Sequence ENSEMBL: ENSMUSP00000110558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040259] [ENSMUST00000114908]
AlphaFold Q920R6
Predicted Effect possibly damaging
Transcript: ENSMUST00000040259
AA Change: N428D

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: N428D

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 824 3.5e-293 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114908
AA Change: N428D

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: N428D

DomainStartEndE-ValueType
Pfam:V_ATPase_I 27 823 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144752
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,399,280 I3618N probably damaging Het
Acss1 A G 2: 150,637,872 L305P probably damaging Het
Alox12e A T 11: 70,321,456 L132Q probably damaging Het
Ccdc80 C T 16: 45,126,130 H811Y probably damaging Het
Cgn T C 3: 94,773,205 M596V probably benign Het
Cpn1 T A 19: 43,966,218 E323V possibly damaging Het
Cul9 A G 17: 46,539,304 S447P probably benign Het
Cyp2f2 A T 7: 27,130,421 Y182F probably benign Het
Dnajc13 T C 9: 104,162,359 M2104V possibly damaging Het
Eri3 T C 4: 117,564,677 F51L probably benign Het
Fgd5 A G 6: 91,988,717 S486G possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm13101 C A 4: 143,965,729 C234F probably benign Het
Ifna4 T C 4: 88,842,152 S98P probably damaging Het
Impg2 A G 16: 56,252,225 K340R probably benign Het
Man2b2 T C 5: 36,813,745 N759S possibly damaging Het
Mfsd1 A G 3: 67,587,911 probably benign Het
Olfr716 T A 7: 107,147,696 C127S probably damaging Het
Pdcd6ip G T 9: 113,691,498 N139K probably damaging Het
Peak1 A T 9: 56,260,065 I193N possibly damaging Het
Psg27 T A 7: 18,565,064 T111S probably damaging Het
Ptprs G A 17: 56,435,676 L489F probably damaging Het
Rpgrip1l A G 8: 91,270,218 V76A probably benign Het
Scd1 A T 19: 44,400,348 M221K possibly damaging Het
Slc38a7 A G 8: 95,843,758 probably null Het
Spon2 T C 5: 33,215,560 D266G probably benign Het
Spry4 C T 18: 38,590,425 G95D probably damaging Het
Supt20 A G 3: 54,695,205 M1V probably null Het
Tmem55a T C 4: 14,893,566 L143S probably damaging Het
Trappc11 A C 8: 47,514,128 F404V possibly damaging Het
Vmn1r178 C A 7: 23,894,009 Q161K probably damaging Het
Vmn2r25 T C 6: 123,839,365 E419G possibly damaging Het
Vstm5 A G 9: 15,257,672 H146R probably damaging Het
Other mutations in Atp6v0a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Atp6v0a4 APN 6 38092790 nonsense probably null
IGL01358:Atp6v0a4 APN 6 38074210 missense probably damaging 1.00
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 splice site probably null
R5698:Atp6v0a4 UTSW 6 38050507 splice site probably null
R6425:Atp6v0a4 UTSW 6 38050511 missense possibly damaging 0.88
R7659:Atp6v0a4 UTSW 6 38071972 missense probably damaging 1.00
R8004:Atp6v0a4 UTSW 6 38050549 missense possibly damaging 0.93
R8270:Atp6v0a4 UTSW 6 38074229 missense probably damaging 1.00
R8683:Atp6v0a4 UTSW 6 38048991 makesense probably null
R9007:Atp6v0a4 UTSW 6 38053053 missense probably benign
R9359:Atp6v0a4 UTSW 6 38082113 missense probably benign 0.21
R9475:Atp6v0a4 UTSW 6 38060982 missense probably damaging 1.00
Z1176:Atp6v0a4 UTSW 6 38049036 missense possibly damaging 0.95
Posted On 2014-02-04