Incidental Mutation 'R5377:Atp6v0a1'
| ID |
425632 |
| 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 |
042845-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5377 (G1)
|
| Quality Score |
147 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101009452-101063719 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101055587 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 802
(H802R)
|
| 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: H802R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302
AA Change: H802R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092663
AA Change: H796R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302
AA Change: H796R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103110
AA Change: H803R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302
AA Change: H803R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168757
AA Change: H802R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302
AA Change: H802R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
T |
6: 121,645,253 (GRCm38) |
V372F |
probably benign |
Het |
| Adcy10 |
G |
A |
1: 165,519,895 (GRCm38) |
C393Y |
probably damaging |
Het |
| Adgrg7 |
A |
C |
16: 56,730,306 (GRCm38) |
I681S |
possibly damaging |
Het |
| Akap8l |
T |
C |
17: 32,321,511 (GRCm38) |
|
probably benign |
Het |
| Akr1a1 |
A |
T |
4: 116,639,895 (GRCm38) |
V156E |
probably damaging |
Het |
| Alk |
T |
G |
17: 71,895,739 (GRCm38) |
D1167A |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 122,893,714 (GRCm38) |
|
probably null |
Het |
| Aspm |
T |
A |
1: 139,457,483 (GRCm38) |
N288K |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,470,395 (GRCm38) |
|
probably null |
Het |
| Asxl2 |
G |
A |
12: 3,474,618 (GRCm38) |
|
probably null |
Het |
| B4galnt1 |
A |
G |
10: 127,171,822 (GRCm38) |
T531A |
possibly damaging |
Het |
| Ccdc114 |
C |
T |
7: 45,942,082 (GRCm38) |
R257* |
probably null |
Het |
| Cecr2 |
A |
G |
6: 120,756,569 (GRCm38) |
N506D |
possibly damaging |
Het |
| Crebrf |
T |
C |
17: 26,759,865 (GRCm38) |
V509A |
probably damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,675,616 (GRCm38) |
I413F |
probably null |
Het |
| Defb12 |
C |
A |
8: 19,114,326 (GRCm38) |
|
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,421,848 (GRCm38) |
E4297G |
probably damaging |
Het |
| Dpysl5 |
A |
T |
5: 30,791,513 (GRCm38) |
N371Y |
probably damaging |
Het |
| Eef1d |
G |
T |
15: 75,903,189 (GRCm38) |
T207N |
probably benign |
Het |
| Esrrb |
C |
T |
12: 86,519,009 (GRCm38) |
Q416* |
probably null |
Het |
| Exd2 |
T |
C |
12: 80,489,448 (GRCm38) |
L284P |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,376,443 (GRCm38) |
I595F |
probably benign |
Het |
| Gm9920 |
A |
G |
15: 55,108,975 (GRCm38) |
|
probably benign |
Het |
| Hephl1 |
T |
C |
9: 15,069,788 (GRCm38) |
K783E |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,005,277 (GRCm38) |
S1052P |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,963,093 (GRCm38) |
I192V |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,453,746 (GRCm38) |
D722G |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,815,019 (GRCm38) |
V1080A |
possibly damaging |
Het |
| Lpin1 |
C |
T |
12: 16,563,655 (GRCm38) |
G504S |
probably damaging |
Het |
| Lrit2 |
A |
C |
14: 37,069,183 (GRCm38) |
Q273P |
possibly damaging |
Het |
| Mgea5 |
A |
T |
19: 45,758,022 (GRCm38) |
Y779* |
probably null |
Het |
| Mlkl |
T |
A |
8: 111,327,937 (GRCm38) |
E189D |
probably benign |
Het |
| Mttp |
C |
T |
3: 138,105,029 (GRCm38) |
R608H |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,589,160 (GRCm38) |
V2011A |
probably benign |
Het |
| Nos2 |
A |
T |
11: 78,957,491 (GRCm38) |
I1075F |
probably benign |
Het |
| Npat |
A |
G |
9: 53,550,036 (GRCm38) |
|
probably null |
Het |
| Nucks1 |
T |
C |
1: 131,919,033 (GRCm38) |
F16L |
probably damaging |
Het |
| Nus1 |
T |
C |
10: 52,429,213 (GRCm38) |
S150P |
possibly damaging |
Het |
| Olfr1230 |
G |
T |
2: 89,297,162 (GRCm38) |
T36K |
probably damaging |
Het |
| Olfr881 |
A |
T |
9: 37,992,612 (GRCm38) |
Y40F |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,681,353 (GRCm38) |
T3290A |
unknown |
Het |
| Pign |
A |
T |
1: 105,657,812 (GRCm38) |
F4Y |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,860,542 (GRCm38) |
N233D |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,160,195 (GRCm38) |
M1325L |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 (GRCm38) |
C537R |
probably damaging |
Het |
| Scaf11 |
T |
A |
15: 96,417,120 (GRCm38) |
H1227L |
possibly damaging |
Het |
| Sec31b |
G |
T |
19: 44,518,637 (GRCm38) |
P840T |
probably damaging |
Het |
| Slc16a9 |
T |
A |
10: 70,283,128 (GRCm38) |
L426I |
probably damaging |
Het |
| Slc17a2 |
T |
C |
13: 23,812,592 (GRCm38) |
S27P |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,344,393 (GRCm38) |
Q436* |
probably null |
Het |
| Tacc1 |
A |
G |
8: 25,182,283 (GRCm38) |
S310P |
possibly damaging |
Het |
| Tmem245 |
G |
A |
4: 56,947,084 (GRCm38) |
R110C |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,757,431 (GRCm38) |
Y953C |
probably damaging |
Het |
| Trpm7 |
C |
A |
2: 126,842,855 (GRCm38) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,912,123 (GRCm38) |
V4561I |
probably benign |
Het |
| Vmn1r192 |
C |
T |
13: 22,187,631 (GRCm38) |
V140I |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 85,006,818 (GRCm38) |
I330N |
probably damaging |
Het |
| Vmn2r99 |
T |
C |
17: 19,379,269 (GRCm38) |
V405A |
probably damaging |
Het |
| Wdhd1 |
A |
C |
14: 47,272,221 (GRCm38) |
V172G |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 108,951,185 (GRCm38) |
R2956C |
possibly damaging |
Het |
| Zfp446 |
T |
C |
7: 12,982,251 (GRCm38) |
L283P |
possibly damaging |
Het |
| Zfp82 |
T |
C |
7: 30,057,166 (GRCm38) |
K164E |
probably 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 |
|
R1580:Atp6v0a1
|
UTSW |
11 |
101,029,204 (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 |
|
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'- GGCTCCCTTTTGCTAAACTCAG -3'
(R):5'- CTTTCCCGGAAGCCATGAAAAG -3'
Sequencing Primer
(F):5'- GCTAAACTCAGTTGCACCTTGTG -3'
(R):5'- AAAGATGAGCTGGGCTTTCC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation