Incidental Mutation 'IGL02319:Atp6v1d'
ID 288174
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 # IGL02319
Quality Score
Status
Chromosome 12
Chromosomal Location 78889756-78908810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78908230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 2 (S2P)
Ref Sequence ENSEMBL: ENSMUSP00000021536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021536] [ENSMUST00000071230]
AlphaFold P57746
Predicted Effect probably damaging
Transcript: ENSMUST00000021536
AA Change: S2P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021536
Gene: ENSMUSG00000021114
AA Change: S2P

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T C 10: 106,784,611 (GRCm39) Y537C probably damaging Het
Ambra1 A G 2: 91,717,265 (GRCm39) H854R probably damaging Het
Atf7ip A G 6: 136,570,116 (GRCm39) N981S probably benign Het
Cd59a A T 2: 103,944,373 (GRCm39) I74F possibly damaging Het
Chek2 T C 5: 111,014,877 (GRCm39) Y449H possibly damaging Het
Ctif C T 18: 75,654,944 (GRCm39) probably benign Het
Dnaaf3 T C 7: 4,526,946 (GRCm39) E403G probably damaging Het
Dock1 T G 7: 134,374,178 (GRCm39) V608G possibly damaging Het
Fcf1 T C 12: 85,017,982 (GRCm39) probably null Het
Fgf17 T G 14: 70,874,183 (GRCm39) Q202P possibly damaging Het
Hnrnpm A T 17: 33,868,924 (GRCm39) L501Q probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Klra6 A T 6: 130,002,177 (GRCm39) S2R probably damaging Het
Krtap19-9b T A 16: 88,729,002 (GRCm39) Y33F unknown Het
Lpcat4 G A 2: 112,074,229 (GRCm39) V264M probably damaging Het
Lyzl6 T C 11: 103,525,862 (GRCm39) Y86C probably damaging Het
Myo18b T C 5: 112,939,005 (GRCm39) K1669E probably damaging Het
Nbea A G 3: 55,893,159 (GRCm39) V1558A probably damaging Het
Or51a42 A G 7: 103,708,140 (GRCm39) I223T probably damaging Het
Or51l14 G A 7: 103,101,474 (GRCm39) C310Y probably benign Het
Or5b105 A G 19: 13,080,026 (GRCm39) I214T probably benign Het
Or8b47 T A 9: 38,435,166 (GRCm39) I46N probably damaging Het
Pex11b T C 3: 96,550,885 (GRCm39) probably benign Het
Rbm5 A T 9: 107,621,064 (GRCm39) L689* probably null Het
Rd3 G T 1: 191,715,452 (GRCm39) G76C probably null Het
Rgs16 A T 1: 153,617,852 (GRCm39) I121F probably damaging Het
Tmem30a A T 9: 79,681,485 (GRCm39) M264K probably damaging Het
Traf2 T C 2: 25,426,695 (GRCm39) E127G probably damaging Het
Trmt11 A T 10: 30,436,869 (GRCm39) D290E probably damaging Het
Wdr35 C A 12: 9,077,480 (GRCm39) probably benign Het
Wnk2 A G 13: 49,214,914 (GRCm39) S1211P possibly damaging Het
Other mutations in Atp6v1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00709:Atp6v1d APN 12 78,896,528 (GRCm39) missense probably benign
IGL03037:Atp6v1d APN 12 78,904,122 (GRCm39) unclassified probably benign
IGL03040: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 2015-04-16