Incidental Mutation 'R1580:Atp6v0a1'
| ID |
171364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp6v0a1
|
| Ensembl Gene |
ENSMUSG00000019302 |
| Gene Name |
ATPase, H+ transporting, lysosomal V0 subunit A1 |
| Synonyms |
Atp6n1a, Vpp-1, Vpp1, V-ATPase a1, Atp6n1 |
| MMRRC Submission |
039617-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1580 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101009452-101063719 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101029204 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 221
(I221T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044721]
[ENSMUST00000092663]
[ENSMUST00000103110]
[ENSMUST00000168757]
|
| AlphaFold |
Q9Z1G4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044721
AA Change: I221T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302
AA Change: I221T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092663
AA Change: I221T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302
AA Change: I221T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103110
AA Change: I228T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302
AA Change: I228T
| 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 damaging
Transcript: ENSMUST00000168757
AA Change: I221T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302
AA Change: I221T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185166
|
| Meta Mutation Damage Score |
0.3359 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.8%
|
| Validation Efficiency |
96% (43/45) |
| 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 |
|---|
| Abca12 |
C |
T |
1: 71,265,965 (GRCm38) |
V2044I |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,466,160 (GRCm38) |
|
probably null |
Het |
| Arhgef38 |
T |
C |
3: 133,133,704 (GRCm38) |
Q526R |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 119,752,987 (GRCm38) |
N752D |
probably benign |
Het |
| Atp8b5 |
T |
C |
4: 43,355,673 (GRCm38) |
V551A |
possibly damaging |
Het |
| B3galnt1 |
A |
G |
3: 69,575,707 (GRCm38) |
S74P |
possibly damaging |
Het |
| Bcl2l13 |
A |
G |
6: 120,865,714 (GRCm38) |
I123V |
probably benign |
Het |
| Brms1l |
A |
T |
12: 55,868,222 (GRCm38) |
K305N |
probably damaging |
Het |
| Ccdc82 |
C |
T |
9: 13,252,760 (GRCm38) |
R226C |
probably damaging |
Het |
| Chst9 |
T |
G |
18: 15,453,065 (GRCm38) |
K147T |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,595,898 (GRCm38) |
R390G |
probably damaging |
Het |
| Clec5a |
G |
T |
6: 40,585,219 (GRCm38) |
H4N |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,925,299 (GRCm38) |
Q2970L |
probably damaging |
Het |
| Cyp2a4 |
T |
C |
7: 26,307,651 (GRCm38) |
I61T |
possibly damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,442,074 (GRCm38) |
K379I |
possibly damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,442,075 (GRCm38) |
K379E |
probably damaging |
Het |
| Dok2 |
A |
G |
14: 70,776,957 (GRCm38) |
D195G |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 30,917,420 (GRCm38) |
E335G |
probably damaging |
Het |
| Fam205c |
T |
C |
4: 42,874,020 (GRCm38) |
|
probably null |
Het |
| Gm7361 |
G |
T |
5: 26,257,770 (GRCm38) |
L3F |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,766,920 (GRCm38) |
D50G |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 68,207,869 (GRCm38) |
V1099A |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,959,956 (GRCm38) |
V71A |
probably benign |
Het |
| Klk10 |
C |
T |
7: 43,782,862 (GRCm38) |
A73V |
probably damaging |
Het |
| Lins1 |
C |
A |
7: 66,714,491 (GRCm38) |
D711E |
probably benign |
Het |
| Mbtps1 |
C |
T |
8: 119,538,900 (GRCm38) |
V303I |
possibly damaging |
Het |
| Mest |
G |
A |
6: 30,745,823 (GRCm38) |
|
probably benign |
Het |
| Nup214 |
C |
T |
2: 32,034,466 (GRCm38) |
S1669F |
probably damaging |
Het |
| Olfr299 |
A |
G |
7: 86,465,450 (GRCm38) |
E13G |
probably benign |
Het |
| Olfr800 |
G |
T |
10: 129,660,315 (GRCm38) |
V170F |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 111,288,242 (GRCm38) |
R326Q |
probably damaging |
Het |
| Rtf2 |
A |
G |
2: 172,445,365 (GRCm38) |
D68G |
probably damaging |
Het |
| Sbspon |
C |
A |
1: 15,892,468 (GRCm38) |
C62F |
probably damaging |
Het |
| Spg7 |
T |
A |
8: 123,090,238 (GRCm38) |
|
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,580,334 (GRCm38) |
V236A |
possibly damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,006,251 (GRCm38) |
N62K |
possibly damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,471,747 (GRCm38) |
S761R |
possibly damaging |
Het |
| Zfp580 |
C |
T |
7: 5,053,285 (GRCm38) |
R215C |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 41,103,209 (GRCm38) |
D898G |
possibly damaging |
Het |
|
| Other mutations in Atp6v0a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00687:Atp6v0a1
|
APN |
11 |
101,030,505 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01024:Atp6v0a1
|
APN |
11 |
101,048,439 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01390:Atp6v0a1
|
APN |
11 |
101,043,802 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02214:Atp6v0a1
|
APN |
11 |
101,039,840 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02639:Atp6v0a1
|
APN |
11 |
101,055,518 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0125:Atp6v0a1
|
UTSW |
11 |
101,038,851 (GRCm38) |
splice site |
probably null |
|
|
R0193:Atp6v0a1
|
UTSW |
11 |
101,048,482 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0265:Atp6v0a1
|
UTSW |
11 |
101,048,515 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0973:Atp6v0a1
|
UTSW |
11 |
101,055,491 (GRCm38) |
nonsense |
probably null |
|
|
R0973:Atp6v0a1
|
UTSW |
11 |
101,055,491 (GRCm38) |
nonsense |
probably null |
|
|
R0974:Atp6v0a1
|
UTSW |
11 |
101,055,491 (GRCm38) |
nonsense |
probably null |
|
|
R1460:Atp6v0a1
|
UTSW |
11 |
101,033,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1625:Atp6v0a1
|
UTSW |
11 |
101,055,554 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1644:Atp6v0a1
|
UTSW |
11 |
101,038,786 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1779:Atp6v0a1
|
UTSW |
11 |
101,026,685 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2895:Atp6v0a1
|
UTSW |
11 |
101,044,598 (GRCm38) |
missense |
probably benign |
|
|
R2926:Atp6v0a1
|
UTSW |
11 |
101,043,948 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3727:Atp6v0a1
|
UTSW |
11 |
101,030,420 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3943:Atp6v0a1
|
UTSW |
11 |
101,055,517 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4820:Atp6v0a1
|
UTSW |
11 |
101,042,950 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5119:Atp6v0a1
|
UTSW |
11 |
101,020,515 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5250:Atp6v0a1
|
UTSW |
11 |
101,043,044 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5377:Atp6v0a1
|
UTSW |
11 |
101,055,587 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5393:Atp6v0a1
|
UTSW |
11 |
101,038,807 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5497:Atp6v0a1
|
UTSW |
11 |
101,029,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5787:Atp6v0a1
|
UTSW |
11 |
101,018,574 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6054:Atp6v0a1
|
UTSW |
11 |
101,039,889 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6076:Atp6v0a1
|
UTSW |
11 |
101,055,060 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6889:Atp6v0a1
|
UTSW |
11 |
101,029,183 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7035:Atp6v0a1
|
UTSW |
11 |
101,027,357 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7084:Atp6v0a1
|
UTSW |
11 |
101,034,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7212:Atp6v0a1
|
UTSW |
11 |
101,043,957 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8289:Atp6v0a1
|
UTSW |
11 |
101,034,105 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8461:Atp6v0a1
|
UTSW |
11 |
101,044,574 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R8680:Atp6v0a1
|
UTSW |
11 |
101,062,403 (GRCm38) |
makesense |
probably null |
|
|
R8725:Atp6v0a1
|
UTSW |
11 |
101,029,189 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8727:Atp6v0a1
|
UTSW |
11 |
101,029,189 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8935:Atp6v0a1
|
UTSW |
11 |
101,038,693 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9658:Atp6v0a1
|
UTSW |
11 |
101,018,588 (GRCm38) |
missense |
probably benign |
0.18 |
|
R9762:Atp6v0a1
|
UTSW |
11 |
101,055,601 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9779:Atp6v0a1
|
UTSW |
11 |
101,034,112 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0023:Atp6v0a1
|
UTSW |
11 |
101,044,597 (GRCm38) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTTAAAGATTCGTTCTGATGCCACC -3'
(R):5'- ACTCCTAATGTCATTCCCAGTGAAAGC -3'
Sequencing Primer
(F):5'- cctgtaagcccagcactc -3'
(R):5'- GTCATTCCCAGTGAAAGCAGAAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation