Incidental Mutation 'R5440:Atp6v0a4'
ID 428577
Institutional Source Beutler Lab
Gene Symbol Atp6v0a4
Ensembl Gene ENSMUSG00000038600
Gene Name ATPase, H+ transporting, lysosomal V0 subunit A4
Synonyms Atp6n1b, V-ATPase alpha 4
MMRRC Submission 043005-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5440 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 38025418-38101521 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 38069752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 47 (F47V)
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: F47V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: F47V

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 824 3.5e-293 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114908
AA Change: F47V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: F47V

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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
Apc G T 18: 34,354,213 (GRCm39) probably benign Het
Apol11b T A 15: 77,519,793 (GRCm39) K96* probably null Het
Arhgap35 C T 7: 16,296,849 (GRCm39) G739S probably damaging Het
Bcl9 G A 3: 97,117,881 (GRCm39) P271L probably benign Het
Cd109 T C 9: 78,587,446 (GRCm39) probably null Het
Col12a1 T A 9: 79,521,645 (GRCm39) I2771F probably benign Het
Col6a1 A G 10: 76,559,288 (GRCm39) V116A probably damaging Het
Cpsf2 C G 12: 101,963,138 (GRCm39) L401V probably benign Het
Cwf19l2 G A 9: 3,475,549 (GRCm39) E829K probably damaging Het
D7Ertd443e G A 7: 133,951,004 (GRCm39) T223I probably damaging Het
Dtx4 G A 19: 12,469,681 (GRCm39) R149C probably damaging Het
Fam186b C T 15: 99,171,734 (GRCm39) A838T possibly damaging Het
Fzd4 G T 7: 89,057,326 (GRCm39) E458* probably null Het
Gm17669 C T 18: 67,695,526 (GRCm39) P24S possibly damaging Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Gucy2e T C 11: 69,114,472 (GRCm39) Y1019C probably damaging Het
Gzme T A 14: 56,355,910 (GRCm39) N134I possibly damaging Het
Havcr1 A T 11: 46,643,197 (GRCm39) Y39F probably damaging Het
Hint3 A T 10: 30,494,347 (GRCm39) M1K probably null Het
Hspa4l A G 3: 40,736,008 (GRCm39) K543R probably damaging Het
Ifna9 A G 4: 88,510,048 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lipo2 A G 19: 33,698,258 (GRCm39) I373T probably benign Het
Myo5c T A 9: 75,165,407 (GRCm39) I405N possibly damaging Het
Or10a49 T C 7: 108,467,833 (GRCm39) H176R probably damaging Het
P2rx1 A G 11: 72,899,329 (GRCm39) M108V probably benign Het
Pcsk2 T A 2: 143,388,463 (GRCm39) V18E probably benign Het
Pigr A T 1: 130,777,359 (GRCm39) probably null Het
Pkp1 A T 1: 135,810,230 (GRCm39) C447S probably benign Het
Prom1 T A 5: 44,215,988 (GRCm39) I96F probably benign Het
Prpf4b T C 13: 35,068,076 (GRCm39) probably benign Het
Ropn1 C A 16: 34,491,542 (GRCm39) D102E probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Sphk1 T G 11: 116,425,714 (GRCm39) V17G possibly damaging Het
Syngr1 A G 15: 79,982,219 (GRCm39) N2S probably benign Het
Syt9 T G 7: 107,101,330 (GRCm39) S359A possibly damaging Het
Terb1 T C 8: 105,215,131 (GRCm39) I282V probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ttn A T 2: 76,739,600 (GRCm39) D3646E probably benign Het
Ube2d1 A G 10: 71,091,682 (GRCm39) W141R probably damaging Het
Vmn2r41 T A 7: 8,141,362 (GRCm39) I701F probably damaging Het
Zfp770 T C 2: 114,026,596 (GRCm39) D491G probably benign 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
IGL01953:Atp6v0a4 APN 6 38,031,552 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- TATACCCTCCGCCTTGGGAATC -3'
(R):5'- TATTCCTGACCCCACTGAGGTG -3'

Sequencing Primer
(F):5'- CTTGGGAATCACCTCAGAAAGTATC -3'
(R):5'- CACTGAGGTGTGTGGGAAC -3'
Posted On 2016-09-01