Incidental Mutation 'IGL00687:Atp6v0a1'
| ID |
9138 |
| 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 # |
IGL00687
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100900278-100954545 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 100921331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044721]
[ENSMUST00000092663]
[ENSMUST00000103110]
[ENSMUST00000168757]
|
| AlphaFold |
Q9Z1G4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044721
|
| SMART Domains |
Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000092663
|
| SMART Domains |
Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000103110
|
| SMART Domains |
Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134919
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154896
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168757
|
| SMART Domains |
Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185166
|
| 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: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cpb2 |
A |
G |
14: 75,512,533 (GRCm39) |
I315M |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 117,885,739 (GRCm39) |
|
probably benign |
Het |
| G3bp2 |
T |
C |
5: 92,213,707 (GRCm39) |
E150G |
probably damaging |
Het |
| Ibsp |
A |
G |
5: 104,457,934 (GRCm39) |
E157G |
probably benign |
Het |
| Ms4a4c |
T |
C |
19: 11,398,682 (GRCm39) |
S167P |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,594,294 (GRCm39) |
N1273S |
probably benign |
Het |
| Rap1gap2 |
T |
A |
11: 74,307,085 (GRCm39) |
D337V |
probably benign |
Het |
| Slc35f3 |
T |
C |
8: 127,108,903 (GRCm39) |
F151L |
probably benign |
Het |
| Unc5d |
A |
T |
8: 29,205,841 (GRCm39) |
|
probably benign |
Het |
| Zfp711 |
G |
A |
X: 111,534,508 (GRCm39) |
R284Q |
probably damaging |
Het |
|
| Other mutations in Atp6v0a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation