Incidental Mutation 'IGL02214:Atp6v0a1'
ID |
284780 |
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 # |
IGL02214
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
100900278-100954545 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100930666 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 498
(S498G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044721]
[ENSMUST00000092663]
[ENSMUST00000103110]
[ENSMUST00000168757]
|
AlphaFold |
Q9Z1G4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044721
AA Change: S498G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000044838 Gene: ENSMUSG00000019302 AA Change: S498G
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092663
AA Change: S498G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000090333 Gene: ENSMUSG00000019302 AA Change: S498G
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
823 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103110
AA Change: S505G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099399 Gene: ENSMUSG00000019302 AA Change: S505G
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: S498G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000131848 Gene: ENSMUSG00000019302 AA Change: S498G
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430097D07Rik |
T |
C |
2: 32,464,736 (GRCm39) |
|
probably benign |
Het |
A330008L17Rik |
T |
A |
8: 100,148,390 (GRCm39) |
|
noncoding transcript |
Het |
A930004D18Rik |
A |
G |
2: 18,032,067 (GRCm39) |
L17P |
unknown |
Het |
Abca14 |
A |
T |
7: 119,893,398 (GRCm39) |
M1283L |
probably benign |
Het |
Adarb1 |
A |
T |
10: 77,158,135 (GRCm39) |
V104E |
probably damaging |
Het |
Ano1 |
T |
A |
7: 144,209,445 (GRCm39) |
N252Y |
possibly damaging |
Het |
Bdp1 |
A |
G |
13: 100,178,043 (GRCm39) |
V1942A |
probably benign |
Het |
Carf |
T |
A |
1: 60,187,240 (GRCm39) |
D579E |
probably damaging |
Het |
Cltc |
A |
T |
11: 86,623,412 (GRCm39) |
S200R |
probably benign |
Het |
Cpeb1 |
T |
C |
7: 81,021,805 (GRCm39) |
S113G |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Ehd3 |
T |
A |
17: 74,127,541 (GRCm39) |
L158H |
probably damaging |
Het |
Etfa |
C |
A |
9: 55,372,095 (GRCm39) |
G289W |
probably damaging |
Het |
Fndc3c1 |
G |
A |
X: 105,469,435 (GRCm39) |
T1029I |
probably benign |
Het |
Gipr |
C |
A |
7: 18,891,471 (GRCm39) |
G402V |
possibly damaging |
Het |
Hacd1 |
C |
T |
2: 14,031,758 (GRCm39) |
V242M |
probably damaging |
Het |
Hecw1 |
A |
G |
13: 14,474,978 (GRCm39) |
L520P |
probably damaging |
Het |
Ibtk |
A |
T |
9: 85,596,232 (GRCm39) |
|
probably benign |
Het |
Igkv16-104 |
A |
C |
6: 68,402,778 (GRCm39) |
I24L |
probably benign |
Het |
Kcnh8 |
A |
T |
17: 53,184,939 (GRCm39) |
Y407F |
possibly damaging |
Het |
Mansc1 |
C |
T |
6: 134,587,323 (GRCm39) |
V285M |
probably benign |
Het |
Mindy4 |
A |
G |
6: 55,193,636 (GRCm39) |
R110G |
possibly damaging |
Het |
Morn1 |
C |
T |
4: 155,176,776 (GRCm39) |
H100Y |
probably damaging |
Het |
Naip6 |
A |
T |
13: 100,452,567 (GRCm39) |
S165T |
probably damaging |
Het |
Or13a24 |
A |
T |
7: 140,154,470 (GRCm39) |
R135* |
probably null |
Het |
Or5aq1 |
T |
G |
2: 86,965,849 (GRCm39) |
K272T |
probably damaging |
Het |
Prx |
G |
T |
7: 27,218,337 (GRCm39) |
R946M |
probably damaging |
Het |
Ptchd1 |
A |
G |
X: 154,356,706 (GRCm39) |
V833A |
possibly damaging |
Het |
Rgl2 |
A |
G |
17: 34,154,163 (GRCm39) |
D481G |
probably benign |
Het |
Serpinb3a |
A |
G |
1: 106,976,218 (GRCm39) |
|
probably null |
Het |
Shtn1 |
T |
C |
19: 58,988,318 (GRCm39) |
|
probably benign |
Het |
Slco1a7 |
T |
A |
6: 141,668,911 (GRCm39) |
D507V |
possibly damaging |
Het |
Sult1b1 |
C |
T |
5: 87,682,949 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,923,106 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
C |
T |
15: 72,884,731 (GRCm39) |
W416* |
probably null |
Het |
Ubr4 |
T |
C |
4: 139,155,894 (GRCm39) |
Y2240H |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,189,138 (GRCm39) |
|
probably null |
Het |
Vmn2r76 |
A |
C |
7: 85,879,138 (GRCm39) |
F387L |
probably benign |
Het |
Vps8 |
G |
A |
16: 21,336,035 (GRCm39) |
C729Y |
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 |
IGL01390:Atp6v0a1
|
APN |
11 |
100,934,628 (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 |
2015-04-16 |