Incidental Mutation 'IGL01390:Atp6v0a1'
ID |
79162 |
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)
|
Stock # |
IGL01390
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
100900278-100954545 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100934628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 565
(K565R)
|
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: K565R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000044838 Gene: ENSMUSG00000019302 AA Change: K565R
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092663
AA Change: K565R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000090333 Gene: ENSMUSG00000019302 AA Change: K565R
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
823 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103110
AA Change: K572R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000099399 Gene: ENSMUSG00000019302 AA Change: K572R
Domain | Start | End | E-Value | Type |
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: K565R
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000131848 Gene: ENSMUSG00000019302 AA Change: K565R
Domain | Start | End | E-Value | Type |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna2d3 |
T |
C |
14: 28,665,548 (GRCm39) |
T158A |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,411,686 (GRCm39) |
D3685G |
probably benign |
Het |
Dock1 |
T |
C |
7: 134,346,776 (GRCm39) |
I236T |
possibly damaging |
Het |
Dock6 |
A |
G |
9: 21,714,341 (GRCm39) |
V1803A |
probably damaging |
Het |
Epb41 |
T |
C |
4: 131,731,048 (GRCm39) |
I178V |
probably benign |
Het |
Gm10110 |
C |
A |
14: 90,135,677 (GRCm39) |
|
noncoding transcript |
Het |
H2ac6 |
T |
C |
13: 23,867,499 (GRCm39) |
|
probably benign |
Het |
Hoxb7 |
A |
C |
11: 96,177,837 (GRCm39) |
N95T |
probably benign |
Het |
Ikzf2 |
C |
A |
1: 69,609,801 (GRCm39) |
C116F |
probably damaging |
Het |
Ints8 |
A |
T |
4: 11,218,679 (GRCm39) |
|
probably benign |
Het |
Itprid1 |
C |
T |
6: 55,874,983 (GRCm39) |
P311L |
probably benign |
Het |
Man2a1 |
T |
C |
17: 65,017,700 (GRCm39) |
Y649H |
probably benign |
Het |
Mcm8 |
T |
C |
2: 132,679,998 (GRCm39) |
|
probably benign |
Het |
Msi1 |
T |
A |
5: 115,576,780 (GRCm39) |
D137E |
possibly damaging |
Het |
Or8u10 |
T |
C |
2: 85,915,984 (GRCm39) |
I46V |
probably benign |
Het |
Pde6c |
A |
G |
19: 38,150,376 (GRCm39) |
Y507C |
probably benign |
Het |
Prl7d1 |
A |
G |
13: 27,894,149 (GRCm39) |
V140A |
possibly damaging |
Het |
Rb1 |
T |
A |
14: 73,532,439 (GRCm39) |
I132F |
probably benign |
Het |
Rgl1 |
A |
G |
1: 152,447,339 (GRCm39) |
|
probably benign |
Het |
Rpl18a |
G |
T |
8: 71,348,154 (GRCm39) |
|
probably benign |
Het |
Sf3b1 |
T |
C |
1: 55,026,588 (GRCm39) |
I1274V |
probably benign |
Het |
Slc9a3 |
A |
C |
13: 74,298,880 (GRCm39) |
I100L |
probably benign |
Het |
Sorcs3 |
T |
A |
19: 48,778,570 (GRCm39) |
Y996N |
probably damaging |
Het |
Sra1 |
A |
G |
18: 36,803,134 (GRCm39) |
L37P |
probably damaging |
Het |
Stim1 |
A |
G |
7: 102,076,369 (GRCm39) |
Q440R |
possibly damaging |
Het |
Tacc3 |
C |
T |
5: 33,825,405 (GRCm39) |
|
probably benign |
Het |
Tas2r104 |
T |
A |
6: 131,662,448 (GRCm39) |
Y87F |
probably benign |
Het |
Tbl2 |
T |
C |
5: 135,185,217 (GRCm39) |
|
probably benign |
Het |
Vsig10l |
C |
T |
7: 43,115,889 (GRCm39) |
S410F |
probably damaging |
Het |
|
Other mutations in Atp6v0a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00687:Atp6v0a1
|
APN |
11 |
100,921,331 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01024:Atp6v0a1
|
APN |
11 |
100,939,265 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2013-11-05 |