Incidental Mutation 'IGL01953:Atp6v0a4'
ID 181352
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v0a4
Ensembl Gene ENSMUSG00000038600
Gene Name ATPase, H+ transporting, lysosomal V0 subunit A4
Synonyms Atp6n1b, V-ATPase alpha 4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01953
Quality Score
Status
Chromosome 6
Chromosomal Location 38025418-38101521 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38031552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 650 (S650P)
Ref Sequence ENSEMBL: ENSMUSP00000110558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040259] [ENSMUST00000114908]
AlphaFold Q920R6
Predicted Effect probably damaging
Transcript: ENSMUST00000040259
AA Change: S650P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: S650P

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 824 3.5e-293 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114908
AA Change: S650P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: S650P

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks3 G A 16: 4,778,408 (GRCm39) A8V probably damaging Het
B3glct C A 5: 149,669,000 (GRCm39) D311E probably benign Het
Cc2d1a G A 8: 84,870,607 (GRCm39) P119S probably benign Het
Cdcp3 T C 7: 130,826,709 (GRCm39) M261T probably benign Het
Chdh T C 14: 29,757,304 (GRCm39) V409A probably benign Het
Cipc T A 12: 86,999,538 (GRCm39) V4E possibly damaging Het
Dock2 G T 11: 34,623,183 (GRCm39) T70K probably benign Het
Dpf1 T C 7: 29,013,732 (GRCm39) V269A probably damaging Het
Drc7 A T 8: 95,785,753 (GRCm39) Y203F probably damaging Het
Dsg3 C T 18: 20,658,361 (GRCm39) T324I probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Iqcd A T 5: 120,738,554 (GRCm39) N124I probably benign Het
Kdm7a T C 6: 39,123,836 (GRCm39) N776S probably benign Het
Lama5 C T 2: 179,832,497 (GRCm39) R1684H probably damaging Het
Lrp12 A T 15: 39,741,497 (GRCm39) V406D probably damaging Het
Lrrc74a T A 12: 86,788,494 (GRCm39) L158Q probably damaging Het
Mef2d C T 3: 88,063,813 (GRCm39) T80I probably damaging Het
Megf11 T C 9: 64,597,370 (GRCm39) C681R probably damaging Het
Mex3c A G 18: 73,723,104 (GRCm39) D399G probably damaging Het
Muc20 T C 16: 32,614,073 (GRCm39) T435A probably benign Het
Myo5b T C 18: 74,702,838 (GRCm39) Y10H possibly damaging Het
Or12d13 T C 17: 37,647,766 (GRCm39) D119G probably damaging Het
Or4k40 A G 2: 111,250,657 (GRCm39) L213P probably benign Het
Otoa T A 7: 120,759,548 (GRCm39) probably null Het
P4ha2 T C 11: 54,004,996 (GRCm39) F124S probably benign Het
Phkg2 C T 7: 127,181,512 (GRCm39) P232S probably damaging Het
Piezo1 T A 8: 123,217,923 (GRCm39) Q800L probably damaging Het
Pign C A 1: 105,516,764 (GRCm39) probably benign Het
Pik3r5 A G 11: 68,384,997 (GRCm39) D634G probably benign Het
Ptpn9 A G 9: 56,964,072 (GRCm39) T402A possibly damaging Het
Relb A C 7: 19,349,482 (GRCm39) probably null Het
Scgb1b30 A G 7: 33,799,302 (GRCm39) Q78R probably damaging Het
Sema6a C T 18: 47,423,187 (GRCm39) W273* probably null Het
Sestd1 A G 2: 77,042,813 (GRCm39) V247A possibly damaging Het
Specc1 T A 11: 62,009,122 (GRCm39) S293T probably benign Het
Sptbn2 A G 19: 4,799,721 (GRCm39) D2145G probably benign Het
Trim43b T A 9: 88,967,496 (GRCm39) D380V possibly damaging Het
Vmn1r236 A G 17: 21,507,473 (GRCm39) Y197C possibly damaging Het
Vmn1r79 A G 7: 11,910,382 (GRCm39) Y88C probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r61 G A 7: 41,949,613 (GRCm39) V678M probably damaging Het
Wdfy3 A T 5: 102,042,894 (GRCm39) Y1937* probably null 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
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
R0100:Atp6v0a4 UTSW 6 38,053,750 (GRCm39) missense probably benign
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 2014-05-07