Incidental Mutation 'IGL03190:Atp6v0a4'
ID412617
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 #IGL03190
Quality Score
Status
Chromosome6
Chromosomal Location38048483-38124586 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 38054556 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 670 (Q670L)
Ref Sequence ENSEMBL: ENSMUSP00000110558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040259] [ENSMUST00000114908]
Predicted Effect probably benign
Transcript: ENSMUST00000040259
AA Change: Q670L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: Q670L

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 824 3.5e-293 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114908
AA Change: Q670L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: Q670L

DomainStartEndE-ValueType
Pfam:V_ATPase_I 27 823 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132736
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135594
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 55,779,053 C314S probably damaging Het
Agr2 T A 12: 35,998,635 I128N probably damaging Het
Akr1c6 T C 13: 4,446,413 I91T possibly damaging Het
Ankrd45 A G 1: 161,163,339 I221V probably benign Het
Armc3 A T 2: 19,288,950 L517F probably damaging Het
Atp13a3 A T 16: 30,322,948 M1129K probably benign Het
Bank1 T C 3: 136,100,424 Y483C probably damaging Het
Bcan A T 3: 87,993,050 probably benign Het
Bcl11a G A 11: 24,158,333 E104K probably benign Het
Clasp2 C T 9: 113,844,140 Q368* probably null Het
Clcn1 T A 6: 42,290,103 Y71N probably benign Het
Cul2 C T 18: 3,429,634 T498I possibly damaging Het
Fam205a1 C A 4: 42,848,362 G1265C probably benign Het
Fat4 A G 3: 38,981,241 D3014G probably damaging Het
Flnc T C 6: 29,445,637 probably benign Het
Il1f9 C A 2: 24,187,260 S28* probably null Het
Itgb3bp A G 4: 99,789,686 probably benign Het
Itm2b G A 14: 73,365,789 P120L probably damaging Het
Klk1b26 T C 7: 44,012,727 F3S possibly damaging Het
Lin52 T C 12: 84,457,958 V39A probably damaging Het
Magt1 A C X: 105,989,016 N242K probably benign Het
Nos3 A G 5: 24,383,629 M1118V probably damaging Het
Olfr341 A T 2: 36,479,722 M136K probably damaging Het
Olfr420 T C 1: 174,159,544 V257A probably damaging Het
Paqr5 A C 9: 61,972,802 L56R probably damaging Het
Pcdhb16 T C 18: 37,479,343 F452S probably damaging Het
Prdm5 T A 6: 65,856,132 probably benign Het
Rps6ka5 A G 12: 100,558,648 probably benign Het
Slc22a5 A G 11: 53,875,014 F249L probably benign Het
Ttll2 T C 17: 7,351,380 K383E probably benign Het
Ube2o G A 11: 116,545,128 P353L probably damaging Het
Vmn1r63 T C 7: 5,803,111 D174G probably benign Het
Vmn2r82 A G 10: 79,356,809 probably null Het
Xpnpep2 T A X: 48,118,328 probably benign Het
Zfp352 T A 4: 90,223,757 S45T possibly damaging Het
Zfp811 A G 17: 32,798,881 probably benign Het
Zfyve19 G A 2: 119,216,236 A304T 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
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
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 On2016-08-02