Incidental Mutation 'R6961:Atp6v0d1'
ID 541765
Institutional Source Beutler Lab
Gene Symbol Atp6v0d1
Ensembl Gene ENSMUSG00000013160
Gene Name ATPase, H+ transporting, lysosomal V0 subunit D1
Synonyms lysosomal 38kDa, Vma6, Atp6d, Ac39, P39
MMRRC Submission 045071-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6961 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106251097-106292679 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106255849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 173 (L173P)
Ref Sequence ENSEMBL: ENSMUSP00000013304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013304]
AlphaFold P51863
Predicted Effect probably damaging
Transcript: ENSMUST00000013304
AA Change: L173P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000013304
Gene: ENSMUSG00000013160
AA Change: L173P

DomainStartEndE-ValueType
Pfam:vATP-synt_AC39 16 347 2.4e-116 PFAM
Meta Mutation Damage Score 0.9672 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.8%
Validation Efficiency 100% (51/51)
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 eukaryotic intracellular organelles. V-ATPase dependent organelle 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. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,024,148 (GRCm39) L168P probably damaging Het
Baiap2l2 A G 15: 79,168,835 (GRCm39) F23L probably damaging Het
Cd200l1 T A 16: 45,264,366 (GRCm39) Y64F probably benign Het
Cdh23 G C 10: 60,485,893 (GRCm39) L41V probably benign Het
Cep120 C A 18: 53,836,277 (GRCm39) E803* probably null Het
Clcn7 C T 17: 25,376,188 (GRCm39) P560S probably damaging Het
Cldn12 A T 5: 5,557,707 (GRCm39) V240D probably damaging Het
Clec1a C T 6: 129,406,946 (GRCm39) E190K probably benign Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Crispld1 T A 1: 17,832,365 (GRCm39) H450Q probably damaging Het
Dsc2 A T 18: 20,171,279 (GRCm39) N573K probably damaging Het
Fam186a T A 15: 99,838,082 (GRCm39) I2721F probably benign Het
Fbxl13 A G 5: 21,748,740 (GRCm39) F393S probably damaging Het
Fut1 A T 7: 45,268,963 (GRCm39) I306F probably damaging Het
Gas2l3 T C 10: 89,249,153 (GRCm39) D655G probably benign Het
Gm29106 A T 1: 118,128,128 (GRCm39) K607* probably null Het
Gm57858 T A 3: 36,104,766 (GRCm39) I32F possibly damaging Het
Hmg20a T C 9: 56,396,012 (GRCm39) V268A probably benign Het
Il2rb T A 15: 78,370,024 (GRCm39) Y205F probably damaging Het
Ints4 A G 7: 97,190,397 (GRCm39) *965W probably null Het
Itsn2 T A 12: 4,723,420 (GRCm39) C1118* probably null Het
Jakmip1 T C 5: 37,330,697 (GRCm39) L459P probably damaging Het
Klhl8 T C 5: 104,018,435 (GRCm39) T323A possibly damaging Het
Mindy3 C A 2: 12,400,989 (GRCm39) probably null Het
Myo3a A G 2: 22,250,369 (GRCm39) T79A probably benign Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Napa C T 7: 15,843,034 (GRCm39) R53* probably null Het
Nudt21 A C 8: 94,755,508 (GRCm39) D133E probably benign Het
Or2y3 T A 17: 38,393,096 (GRCm39) I258F probably damaging Het
Or4c115 T A 2: 88,928,149 (GRCm39) M41L probably benign Het
Or52b1 A T 7: 104,978,913 (GRCm39) I162K probably damaging Het
Or52s19 A G 7: 103,007,789 (GRCm39) V204A possibly damaging Het
Or56a41 A T 7: 104,741,978 (GRCm39) M16K probably benign Het
Or6c7 T C 10: 129,323,331 (GRCm39) F151L probably damaging Het
Pate13 G A 9: 35,819,740 (GRCm39) M1I probably null Het
Pira13 T C 7: 3,828,124 (GRCm39) Y61C probably damaging Het
Pla2g4e G T 2: 120,004,851 (GRCm39) probably null Het
Ptbp1 T C 10: 79,695,111 (GRCm39) probably null Het
Scfd2 A C 5: 74,680,202 (GRCm39) V317G possibly damaging Het
Slc45a1 T C 4: 150,714,110 (GRCm39) M712V probably damaging Het
Smg7 A T 1: 152,717,334 (GRCm39) L919* probably null Het
Sspo T A 6: 48,440,811 (GRCm39) S1758T probably benign Het
Tgfb2 A T 1: 186,382,032 (GRCm39) M165K possibly damaging Het
Tie1 C T 4: 118,343,402 (GRCm39) V154M probably damaging Het
Timm17a A G 1: 135,238,816 (GRCm39) probably benign Het
Tlr5 C T 1: 182,801,076 (GRCm39) R127* probably null Het
Ttc29 A C 8: 79,003,545 (GRCm39) I254L possibly damaging Het
Unc79 T C 12: 103,079,174 (GRCm39) S1780P probably damaging Het
Vmn2r106 A T 17: 20,488,646 (GRCm39) Y584* probably null Het
Zbtb24 A G 10: 41,331,171 (GRCm39) E366G probably damaging Het
Other mutations in Atp6v0d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03088:Atp6v0d1 APN 8 106,257,591 (GRCm39) missense probably damaging 1.00
R1954:Atp6v0d1 UTSW 8 106,292,525 (GRCm39) missense probably damaging 0.97
R4502:Atp6v0d1 UTSW 8 106,292,430 (GRCm39) missense probably damaging 1.00
R6243:Atp6v0d1 UTSW 8 106,292,495 (GRCm39) missense probably benign 0.26
R6539:Atp6v0d1 UTSW 8 106,251,606 (GRCm39) missense probably benign 0.26
R7246:Atp6v0d1 UTSW 8 106,257,606 (GRCm39) missense probably damaging 1.00
R8907:Atp6v0d1 UTSW 8 106,251,782 (GRCm39) critical splice donor site probably benign
Predicted Primers PCR Primer
(F):5'- TGCAGACACCTTGGAATGGATAAC -3'
(R):5'- AGGGCCCAGAGAATTGCTTC -3'

Sequencing Primer
(F):5'- GACACCTTGGAATGGATAACCTGTTC -3'
(R):5'- CTCCTACTTCCAAGGCAGTAG -3'
Posted On 2018-11-28