Incidental Mutation 'IGL03040:Atp6v1d'
ID 408869
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v1d
Ensembl Gene ENSMUSG00000021114
Gene Name ATPase, H+ transporting, lysosomal V1 subunit D
Synonyms 1110004P10Rik, lysosomal 34kDa, Atp6m, Vma8, VATD
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03040
Quality Score
Status
Chromosome 12
Chromosomal Location 78889756-78908810 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 78904122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000071214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021536] [ENSMUST00000071230]
AlphaFold P57746
Predicted Effect probably benign
Transcript: ENSMUST00000021536
SMART Domains Protein: ENSMUSP00000021536
Gene: ENSMUSG00000021114

DomainStartEndE-ValueType
Pfam:ATP-synt_D 15 207 1.2e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071230
SMART Domains Protein: ENSMUSP00000071214
Gene: ENSMUSG00000021116

DomainStartEndE-ValueType
S1 15 88 1.72e-12 SMART
Pfam:EIF_2_alpha 130 244 1e-40 PFAM
coiled coil region 284 310 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220382
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 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 gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C A 6: 142,598,323 (GRCm39) G672* probably null Het
Adamts19 T A 18: 59,036,080 (GRCm39) S422T probably benign Het
Anapc7 T A 5: 122,571,450 (GRCm39) L175* probably null Het
Atp13a2 T C 4: 140,733,484 (GRCm39) L986P probably damaging Het
Bnip5 A G 17: 29,134,176 (GRCm39) M11T probably benign Het
Cldn5 A G 16: 18,596,380 (GRCm39) Y212C probably damaging Het
Dgki C A 6: 37,126,599 (GRCm39) probably benign Het
Evi5 A G 5: 107,969,672 (GRCm39) S80P probably damaging Het
Extl1 A T 4: 134,087,940 (GRCm39) probably benign Het
Fam237b C A 5: 5,625,566 (GRCm39) Y87* probably null Het
Fbxo38 T C 18: 62,660,323 (GRCm39) H296R probably damaging Het
Fras1 A G 5: 96,857,960 (GRCm39) I2085V probably benign Het
Gpd2 A T 2: 57,245,805 (GRCm39) E445V probably benign Het
Grm8 C T 6: 28,126,122 (GRCm39) M1I probably null Het
Hnf4g T A 3: 3,699,271 (GRCm39) probably benign Het
Hspg2 G A 4: 137,289,136 (GRCm39) probably null Het
Kmt2c T C 5: 25,515,350 (GRCm39) Q2831R probably benign Het
Nat10 C A 2: 103,587,610 (GRCm39) probably benign Het
Pbx1 C A 1: 168,255,515 (GRCm39) probably benign Het
Prkg2 C T 5: 99,120,966 (GRCm39) probably null Het
Scn10a T A 9: 119,452,051 (GRCm39) I1291F probably damaging Het
Sh3tc2 G A 18: 62,122,481 (GRCm39) G414D probably benign Het
Syn2 C T 6: 115,240,926 (GRCm39) T432I possibly damaging Het
Tnpo1 T C 13: 98,996,463 (GRCm39) E446G probably damaging Het
Topbp1 C T 9: 103,205,866 (GRCm39) L835F possibly damaging Het
Ubald1 G T 16: 4,693,626 (GRCm39) S96R possibly damaging Het
Utp6 C A 11: 79,826,939 (GRCm39) probably benign Het
Vmn1r19 C A 6: 57,382,347 (GRCm39) P300Q unknown Het
Vmn1r220 T C 13: 23,367,952 (GRCm39) D248G possibly damaging Het
Zglp1 T A 9: 20,974,622 (GRCm39) S189C probably damaging Het
Other mutations in Atp6v1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00709:Atp6v1d APN 12 78,896,528 (GRCm39) missense probably benign
IGL02319:Atp6v1d APN 12 78,908,230 (GRCm39) missense probably damaging 1.00
IGL03037:Atp6v1d APN 12 78,904,122 (GRCm39) unclassified probably benign
R1015:Atp6v1d UTSW 12 78,896,543 (GRCm39) missense possibly damaging 0.70
R1203:Atp6v1d UTSW 12 78,908,214 (GRCm39) missense possibly damaging 0.88
R5470:Atp6v1d UTSW 12 78,892,058 (GRCm39) missense probably benign 0.42
R8479:Atp6v1d UTSW 12 78,896,520 (GRCm39) missense probably benign
R9252:Atp6v1d UTSW 12 78,904,023 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02