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 V-ATPase alpha 4, Atp6n1b
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01953
Quality Score
Status
Chromosome 6
Chromosomal Location 38048483-38124586 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38054617 bp (GRCm38)
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
5430419D17Rik T C 7: 131,224,980 M261T probably benign Het
Anks3 G A 16: 4,960,544 A8V probably damaging Het
B3glct C A 5: 149,745,535 D311E probably benign Het
Cc2d1a G A 8: 84,143,978 P119S probably benign Het
Chdh T C 14: 30,035,347 V409A probably benign Het
Cipc T A 12: 86,952,764 V4E possibly damaging Het
Dock2 G T 11: 34,732,356 T70K probably benign Het
Dpf1 T C 7: 29,314,307 V269A probably damaging Het
Drc7 A T 8: 95,059,125 Y203F probably damaging Het
Dsg3 C T 18: 20,525,304 T324I probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Iqcd A T 5: 120,600,489 N124I probably benign Het
Kdm7a T C 6: 39,146,902 N776S probably benign Het
Lama5 C T 2: 180,190,704 R1684H probably damaging Het
Lrp12 A T 15: 39,878,101 V406D probably damaging Het
Lrrc74a T A 12: 86,741,720 L158Q probably damaging Het
Mef2d C T 3: 88,156,506 T80I probably damaging Het
Megf11 T C 9: 64,690,088 C681R probably damaging Het
Mex3c A G 18: 73,590,033 D399G probably damaging Het
Muc20 T C 16: 32,793,703 T435A probably benign Het
Myo5b T C 18: 74,569,767 Y10H possibly damaging Het
Olfr103 T C 17: 37,336,875 D119G probably damaging Het
Olfr1286 A G 2: 111,420,312 L213P probably benign Het
Otoa T A 7: 121,160,325 probably null Het
P4ha2 T C 11: 54,114,170 F124S probably benign Het
Phkg2 C T 7: 127,582,340 P232S probably damaging Het
Piezo1 T A 8: 122,491,184 Q800L probably damaging Het
Pign C A 1: 105,589,039 probably benign Het
Pik3r5 A G 11: 68,494,171 D634G probably benign Het
Ptpn9 A G 9: 57,056,788 T402A possibly damaging Het
Relb A C 7: 19,615,557 probably null Het
Scgb1b30 A G 7: 34,099,877 Q78R probably damaging Het
Sema6a C T 18: 47,290,120 W273* probably null Het
Sestd1 A G 2: 77,212,469 V247A possibly damaging Het
Specc1 T A 11: 62,118,296 S293T probably benign Het
Sptbn2 A G 19: 4,749,693 D2145G probably benign Het
Trim43b T A 9: 89,085,443 D380V possibly damaging Het
Vmn1r236 A G 17: 21,287,211 Y197C possibly damaging Het
Vmn1r79 A G 7: 12,176,455 Y88C probably damaging Het
Vmn2r61 G A 7: 42,300,189 V678M probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdfy3 A T 5: 101,895,028 Y1937* probably null 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
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 2014-05-07