Incidental Mutation 'IGL01024:Atp6v0a1'
ID 53897
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v0a1
Ensembl Gene ENSMUSG00000019302
Gene Name ATPase, H+ transporting, lysosomal V0 subunit A1
Synonyms V-ATPase a1, Vpp-1, Vpp1, Atp6n1, Atp6n1a
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01024
Quality Score
Status
Chromosome 11
Chromosomal Location 100900278-100954545 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100939265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 677 (I677V)
Ref Sequence ENSEMBL: ENSMUSP00000131848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044721] [ENSMUST00000092663] [ENSMUST00000103110] [ENSMUST00000168757]
AlphaFold Q9Z1G4
Predicted Effect probably benign
Transcript: ENSMUST00000044721
AA Change: I677V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302
AA Change: I677V

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 829 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092663
AA Change: I677V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302
AA Change: I677V

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 823 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103110
AA Change: I684V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302
AA Change: I684V

DomainStartEndE-ValueType
Pfam:V_ATPase_I 27 829 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154896
Predicted Effect probably benign
Transcript: ENSMUST00000168757
AA Change: I677V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302
AA Change: I677V

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 829 N/A PFAM
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 one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,767,040 (GRCm39) V209A probably benign Het
Abca6 T A 11: 110,087,968 (GRCm39) Y1053F probably benign Het
Acot12 C T 13: 91,929,330 (GRCm39) Q386* probably null Het
Adamts16 A G 13: 70,943,603 (GRCm39) V336A probably benign Het
Ankrd49 A G 9: 14,694,099 (GRCm39) F23L probably damaging Het
Aspm A T 1: 139,405,862 (GRCm39) H1583L possibly damaging Het
Brinp1 A T 4: 68,680,731 (GRCm39) W600R probably damaging Het
Ccdc185 T C 1: 182,574,988 (GRCm39) E567G possibly damaging Het
Clip2 T C 5: 134,539,066 (GRCm39) D445G probably damaging Het
Elp5 T C 11: 69,859,248 (GRCm39) probably benign Het
Gm9376 A G 14: 118,504,570 (GRCm39) M1V probably null Het
Gtf2a1l A G 17: 88,978,719 (GRCm39) K40R probably damaging Het
Hdc A G 2: 126,445,766 (GRCm39) V246A probably benign Het
Hectd2 T A 19: 36,583,793 (GRCm39) F479L probably damaging Het
Hipk1 G T 3: 103,667,952 (GRCm39) N538K probably benign Het
Kif27 T A 13: 58,436,015 (GRCm39) E1259D possibly damaging Het
Klhdc2 T A 12: 69,352,610 (GRCm39) N256K probably benign Het
Krt71 C T 15: 101,645,109 (GRCm39) A401T probably damaging Het
Mapk3 A T 7: 126,363,946 (GRCm39) K312* probably null Het
Med12l G T 3: 58,980,762 (GRCm39) S365I probably damaging Het
Mgam A G 6: 40,619,944 (GRCm39) K11R probably benign Het
Nox3 A T 17: 3,733,290 (GRCm39) I187N probably damaging Het
Nudcd1 T A 15: 44,284,222 (GRCm39) M55L probably benign Het
Or1a1b A T 11: 74,097,481 (GRCm39) L187Q probably damaging Het
Or4f59 A T 2: 111,872,716 (GRCm39) F220L probably benign Het
Or8b57 A G 9: 40,004,029 (GRCm39) S78P probably damaging Het
Pard6g T C 18: 80,123,037 (GRCm39) probably benign Het
Pbrm1 G A 14: 30,774,217 (GRCm39) R461H probably damaging Het
Ppm1f C A 16: 16,741,633 (GRCm39) T369K probably benign Het
Ppp1r16b C T 2: 158,582,736 (GRCm39) probably benign Het
Pramel29 A T 4: 143,935,045 (GRCm39) I232K possibly damaging Het
Prom2 T C 2: 127,383,059 (GRCm39) N61S probably benign Het
Psmc2 T C 5: 22,006,196 (GRCm39) probably benign Het
Psme2 A G 14: 55,825,893 (GRCm39) probably benign Het
Ptprc T C 1: 138,008,650 (GRCm39) H655R probably damaging Het
Pxdn A C 12: 30,037,098 (GRCm39) N292T probably damaging Het
Rapgef2 T C 3: 78,977,445 (GRCm39) I1301V probably benign Het
Rnase11 T C 14: 51,287,321 (GRCm39) I78V probably benign Het
Rpl41 A G 10: 128,384,246 (GRCm39) probably benign Het
Sgf29 G A 7: 126,264,103 (GRCm39) R56Q possibly damaging Het
Sis A G 3: 72,819,209 (GRCm39) L1449S probably damaging Het
Slc34a2 T A 5: 53,224,972 (GRCm39) V371D possibly damaging Het
Son C A 16: 91,452,798 (GRCm39) T515K probably damaging Het
Tbx15 A T 3: 99,223,562 (GRCm39) D250V probably damaging Het
Thoc2l T G 5: 104,669,612 (GRCm39) V1378G probably benign Het
Tmem171 T A 13: 98,823,026 (GRCm39) probably null Het
Ugt2b36 C T 5: 87,228,728 (GRCm39) probably null Het
Vill G A 9: 118,899,418 (GRCm39) probably null Het
Vmn2r22 A G 6: 123,615,012 (GRCm39) F193L probably damaging Het
Vmn2r95 C T 17: 18,672,590 (GRCm39) probably benign Het
Vstm2a T A 11: 16,231,874 (GRCm39) V223D possibly damaging Het
Other mutations in Atp6v0a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687:Atp6v0a1 APN 11 100,921,331 (GRCm39) critical splice donor site probably null
IGL01390:Atp6v0a1 APN 11 100,934,628 (GRCm39) missense probably benign 0.01
IGL02214:Atp6v0a1 APN 11 100,930,666 (GRCm39) missense probably benign 0.01
IGL02639:Atp6v0a1 APN 11 100,946,344 (GRCm39) missense possibly damaging 0.90
R0125:Atp6v0a1 UTSW 11 100,929,677 (GRCm39) splice site probably null
R0193:Atp6v0a1 UTSW 11 100,939,308 (GRCm39) missense possibly damaging 0.90
R0265:Atp6v0a1 UTSW 11 100,939,341 (GRCm39) missense possibly damaging 0.80
R0973:Atp6v0a1 UTSW 11 100,946,317 (GRCm39) nonsense probably null
R0973:Atp6v0a1 UTSW 11 100,946,317 (GRCm39) nonsense probably null
R0974:Atp6v0a1 UTSW 11 100,946,317 (GRCm39) nonsense probably null
R1460:Atp6v0a1 UTSW 11 100,924,824 (GRCm39) missense probably damaging 1.00
R1580:Atp6v0a1 UTSW 11 100,920,030 (GRCm39) missense probably damaging 1.00
R1625:Atp6v0a1 UTSW 11 100,946,380 (GRCm39) missense probably damaging 1.00
R1644:Atp6v0a1 UTSW 11 100,929,612 (GRCm39) missense possibly damaging 0.65
R1779:Atp6v0a1 UTSW 11 100,917,511 (GRCm39) missense probably benign 0.01
R2895:Atp6v0a1 UTSW 11 100,935,424 (GRCm39) missense probably benign
R2926:Atp6v0a1 UTSW 11 100,934,774 (GRCm39) missense probably damaging 0.99
R3727:Atp6v0a1 UTSW 11 100,921,246 (GRCm39) missense probably benign 0.01
R3943:Atp6v0a1 UTSW 11 100,946,343 (GRCm39) missense probably benign 0.00
R4820:Atp6v0a1 UTSW 11 100,933,776 (GRCm39) missense probably benign 0.00
R5119:Atp6v0a1 UTSW 11 100,911,341 (GRCm39) missense probably benign 0.02
R5250:Atp6v0a1 UTSW 11 100,933,870 (GRCm39) missense possibly damaging 0.94
R5377:Atp6v0a1 UTSW 11 100,946,413 (GRCm39) missense probably damaging 1.00
R5393:Atp6v0a1 UTSW 11 100,929,633 (GRCm39) missense possibly damaging 0.95
R5497:Atp6v0a1 UTSW 11 100,920,011 (GRCm39) missense probably damaging 1.00
R5787:Atp6v0a1 UTSW 11 100,909,400 (GRCm39) missense probably benign 0.04
R6054:Atp6v0a1 UTSW 11 100,930,715 (GRCm39) missense possibly damaging 0.91
R6076:Atp6v0a1 UTSW 11 100,945,886 (GRCm39) missense probably damaging 1.00
R6889:Atp6v0a1 UTSW 11 100,920,009 (GRCm39) missense possibly damaging 0.87
R7035:Atp6v0a1 UTSW 11 100,918,183 (GRCm39) missense probably damaging 0.97
R7084:Atp6v0a1 UTSW 11 100,924,868 (GRCm39) missense probably damaging 1.00
R7212:Atp6v0a1 UTSW 11 100,934,783 (GRCm39) missense probably benign 0.08
R8289:Atp6v0a1 UTSW 11 100,924,931 (GRCm39) missense probably damaging 1.00
R8461:Atp6v0a1 UTSW 11 100,935,400 (GRCm39) missense possibly damaging 0.60
R8680:Atp6v0a1 UTSW 11 100,953,229 (GRCm39) makesense probably null
R8725:Atp6v0a1 UTSW 11 100,920,015 (GRCm39) missense possibly damaging 0.94
R8727:Atp6v0a1 UTSW 11 100,920,015 (GRCm39) missense possibly damaging 0.94
R8935:Atp6v0a1 UTSW 11 100,929,519 (GRCm39) missense possibly damaging 0.90
R9658:Atp6v0a1 UTSW 11 100,909,414 (GRCm39) missense probably benign 0.18
R9762:Atp6v0a1 UTSW 11 100,946,427 (GRCm39) missense possibly damaging 0.46
R9779:Atp6v0a1 UTSW 11 100,924,938 (GRCm39) missense probably damaging 1.00
X0023:Atp6v0a1 UTSW 11 100,935,423 (GRCm39) missense probably benign 0.02
Posted On 2013-06-28