Incidental Mutation 'IGL03037:Atp6v1d'
ID 408766
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 # IGL03037
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,807,294 (GRCm39) L539P probably damaging Het
Adam23 A T 1: 63,610,176 (GRCm39) Q726L possibly damaging Het
Ago1 T C 4: 126,355,587 (GRCm39) E74G probably benign Het
Bltp1 C A 3: 37,023,356 (GRCm39) S2227R probably benign Het
Bltp1 T C 3: 37,023,357 (GRCm39) S2229P probably damaging Het
Cadm4 T A 7: 24,200,220 (GRCm39) L243Q probably damaging Het
Camsap2 C A 1: 136,202,595 (GRCm39) L1274F probably damaging Het
Car10 A G 11: 92,991,044 (GRCm39) probably benign Het
Catsperd A T 17: 56,948,583 (GRCm39) D186V possibly damaging Het
Cdc42bpg A G 19: 6,361,230 (GRCm39) Y285C probably damaging Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Cln8 A T 8: 14,944,679 (GRCm39) probably benign Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cripto C A 9: 110,772,288 (GRCm39) W36L probably benign Het
Ddx5 T C 11: 106,672,930 (GRCm39) N532D possibly damaging Het
Dock11 G T X: 35,310,699 (GRCm39) probably benign Het
Dock8 A G 19: 25,063,545 (GRCm39) E249G probably benign Het
Espnl T C 1: 91,269,643 (GRCm39) V393A probably benign Het
Fhip1b A T 7: 105,028,293 (GRCm39) H885Q probably benign Het
Frrs1 T C 3: 116,696,116 (GRCm39) probably benign Het
Fstl4 C A 11: 53,059,050 (GRCm39) A503D possibly damaging Het
Gda T A 19: 21,411,673 (GRCm39) I42L possibly damaging Het
Gprc5d C A 6: 135,093,319 (GRCm39) C196F probably damaging Het
Hnrnpa0 A G 13: 58,275,767 (GRCm39) F121L probably damaging Het
Hsd3b7 C T 7: 127,400,322 (GRCm39) H24Y probably damaging Het
Ift140 T C 17: 25,311,368 (GRCm39) S1188P probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mcemp1 C A 8: 3,717,055 (GRCm39) Y65* probably null Het
Mmp16 C T 4: 17,996,222 (GRCm39) P104S probably damaging Het
Mpst C A 15: 78,294,798 (GRCm39) R177S probably benign Het
Nek1 A T 8: 61,487,086 (GRCm39) T279S probably benign Het
Or1q1 C T 2: 36,887,560 (GRCm39) T246I probably benign Het
Or1x2 A T 11: 50,918,117 (GRCm39) Y96F probably damaging Het
Or4c11b A G 2: 88,625,299 (GRCm39) Y191C probably damaging Het
Or7g18 T A 9: 18,786,668 (GRCm39) I12N probably damaging Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pik3r4 A G 9: 105,528,012 (GRCm39) D455G probably damaging Het
Piwil4 T C 9: 14,616,308 (GRCm39) I756V possibly damaging Het
Pkhd1 A G 1: 20,592,923 (GRCm39) L1730P probably benign Het
Pnpla3 T C 15: 84,056,960 (GRCm39) I155T probably damaging Het
Prmt8 T C 6: 127,680,940 (GRCm39) Y243C possibly damaging Het
Rbfox1 T A 16: 7,110,147 (GRCm39) probably benign Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Scaf8 A G 17: 3,240,496 (GRCm39) K623E probably damaging Het
Slc26a4 A T 12: 31,581,686 (GRCm39) probably benign Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Smarca4 T C 9: 21,544,231 (GRCm39) probably benign Het
Sos1 T C 17: 80,727,758 (GRCm39) D775G probably damaging Het
Spag17 G A 3: 99,979,486 (GRCm39) probably null Het
Spata31d1d T A 13: 59,873,947 (GRCm39) E1196V possibly damaging Het
Sqle T A 15: 59,193,246 (GRCm39) Y208N probably damaging Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tenm3 A G 8: 48,751,913 (GRCm39) F959L possibly damaging Het
Tnfrsf19 T A 14: 61,261,721 (GRCm39) K26I possibly damaging Het
Trappc10 A T 10: 78,034,869 (GRCm39) probably benign Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Trpm3 A G 19: 22,866,776 (GRCm39) T536A possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Uaca A G 9: 60,748,147 (GRCm39) D37G probably damaging Het
Ube3a T C 7: 58,896,971 (GRCm39) probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Ugp2 T A 11: 21,282,540 (GRCm39) K151* probably null Het
Wasf1 A G 10: 40,806,654 (GRCm39) K99R probably benign Het
Wnt4 C T 4: 137,016,472 (GRCm39) T42M possibly damaging Het
Zfp54 T A 17: 21,650,477 (GRCm39) D17E 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
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 2016-08-02