Incidental Mutation 'R8289:Atp6v0a1'
| ID |
638593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp6v0a1
|
| Ensembl Gene |
ENSMUSG00000019302 |
| Gene Name |
ATPase, H+ transporting, lysosomal V0 subunit A1 |
| Synonyms |
V-ATPase a1, Vpp-1, Vpp1, Atp6n1, Atp6n1a |
| MMRRC Submission |
067711-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100900278-100954545 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100924931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 339
(R339G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044721]
[ENSMUST00000092663]
[ENSMUST00000103110]
[ENSMUST00000168757]
|
| AlphaFold |
Q9Z1G4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044721
AA Change: R339G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302
AA Change: R339G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092663
AA Change: R339G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302
AA Change: R339G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103110
AA Change: R346G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302
AA Change: R346G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168757
AA Change: R339G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302
AA Change: R339G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (62/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
C |
11: 109,927,515 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
C |
A |
5: 89,923,282 (GRCm39) |
D175Y |
possibly damaging |
Het |
| Adra1b |
G |
A |
11: 43,726,315 (GRCm39) |
P201S |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,742,242 (GRCm39) |
V610A |
possibly damaging |
Het |
| Ap5s1 |
A |
C |
2: 131,054,379 (GRCm39) |
H62P |
probably benign |
Het |
| Apeh |
A |
G |
9: 107,963,444 (GRCm39) |
S593P |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,028,692 (GRCm39) |
V289A |
possibly damaging |
Het |
| Atoh1 |
A |
G |
6: 64,706,893 (GRCm39) |
E196G |
probably damaging |
Het |
| Atp1b3 |
G |
A |
9: 96,215,602 (GRCm39) |
S271L |
probably benign |
Het |
| Calb2 |
T |
C |
8: 110,894,690 (GRCm39) |
H27R |
possibly damaging |
Het |
| Camkk2 |
A |
C |
5: 122,894,689 (GRCm39) |
L201R |
probably damaging |
Het |
| Car15 |
A |
G |
16: 17,654,580 (GRCm39) |
|
probably null |
Het |
| Cecr2 |
A |
G |
6: 120,735,077 (GRCm39) |
N771S |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Csmd1 |
T |
A |
8: 16,108,716 (GRCm39) |
I1896F |
probably damaging |
Het |
| Cubn |
C |
T |
2: 13,491,613 (GRCm39) |
V145I |
probably benign |
Het |
| Cuedc1 |
G |
A |
11: 88,073,381 (GRCm39) |
S182N |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,337,358 (GRCm39) |
E718V |
probably damaging |
Het |
| Cyp7a1 |
G |
A |
4: 6,268,295 (GRCm39) |
P477S |
probably damaging |
Het |
| Dcaf17 |
T |
A |
2: 70,885,718 (GRCm39) |
W16R |
|
Het |
| Dhx8 |
T |
A |
11: 101,631,571 (GRCm39) |
M388K |
probably benign |
Het |
| Dnah14 |
T |
A |
1: 181,543,780 (GRCm39) |
Y2453* |
probably null |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| F830016B08Rik |
G |
A |
18: 60,433,360 (GRCm39) |
E148K |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,404,424 (GRCm39) |
T434A |
possibly damaging |
Het |
| Ide |
A |
G |
19: 37,290,952 (GRCm39) |
L368P |
|
Het |
| Ide |
G |
C |
19: 37,290,953 (GRCm39) |
L368V |
probably null |
Het |
| Ifi206 |
T |
C |
1: 173,308,032 (GRCm39) |
I655V |
|
Het |
| Insrr |
A |
G |
3: 87,721,501 (GRCm39) |
M1136V |
probably damaging |
Het |
| Kcne2 |
A |
G |
16: 92,093,707 (GRCm39) |
E78G |
probably damaging |
Het |
| Lrrc23 |
A |
T |
6: 124,755,267 (GRCm39) |
L90H |
probably damaging |
Het |
| Magel2 |
A |
C |
7: 62,028,875 (GRCm39) |
Q593P |
unknown |
Het |
| Mrgpra3 |
G |
A |
7: 47,239,468 (GRCm39) |
H153Y |
possibly damaging |
Het |
| Msln |
A |
G |
17: 25,967,880 (GRCm39) |
V595A |
possibly damaging |
Het |
| Mvb12a |
T |
C |
8: 71,995,703 (GRCm39) |
|
probably null |
Het |
| Myo7a |
T |
G |
7: 97,726,376 (GRCm39) |
M966L |
probably benign |
Het |
| Ncoa5 |
C |
T |
2: 164,854,982 (GRCm39) |
D47N |
possibly damaging |
Het |
| Neurl4 |
T |
A |
11: 69,800,206 (GRCm39) |
|
probably null |
Het |
| Or1e29 |
T |
A |
11: 73,667,839 (GRCm39) |
M105L |
probably benign |
Het |
| Or4d1 |
T |
C |
11: 87,805,589 (GRCm39) |
T48A |
probably benign |
Het |
| Or5p75-ps1 |
T |
A |
7: 108,108,125 (GRCm39) |
H287Q |
unknown |
Het |
| Or8b37 |
T |
A |
9: 37,959,000 (GRCm39) |
C161S |
probably benign |
Het |
| Osbpl7 |
T |
A |
11: 96,947,405 (GRCm39) |
S480T |
probably benign |
Het |
| Podnl1 |
T |
C |
8: 84,858,552 (GRCm39) |
L484P |
|
Het |
| Polr3gl |
G |
T |
3: 96,489,228 (GRCm39) |
|
probably benign |
Het |
| Prkaa1 |
G |
T |
15: 5,206,563 (GRCm39) |
V438L |
possibly damaging |
Het |
| Prune2 |
A |
T |
19: 17,100,373 (GRCm39) |
H1959L |
probably benign |
Het |
| Rad50 |
A |
T |
11: 53,589,685 (GRCm39) |
L172* |
probably null |
Het |
| Samsn1 |
C |
A |
16: 75,685,684 (GRCm39) |
G25W |
probably damaging |
Het |
| Sbno1 |
T |
G |
5: 124,542,068 (GRCm39) |
L362F |
probably damaging |
Het |
| Slc26a6 |
G |
A |
9: 108,733,230 (GRCm39) |
R43H |
probably benign |
Het |
| Slc35f5 |
T |
G |
1: 125,490,252 (GRCm39) |
Y49* |
probably null |
Het |
| Slc41a2 |
T |
C |
10: 83,137,044 (GRCm39) |
I288V |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,403,344 (GRCm39) |
M804V |
probably benign |
Het |
| Smc6 |
T |
A |
12: 11,324,052 (GRCm39) |
S66T |
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,080,445 (GRCm39) |
D995G |
probably benign |
Het |
| Stk11 |
G |
T |
10: 79,961,740 (GRCm39) |
|
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,748,353 (GRCm39) |
I813T |
probably benign |
Het |
| Tmem121b |
A |
T |
6: 120,469,722 (GRCm39) |
S332T |
possibly damaging |
Het |
| Treml4 |
A |
C |
17: 48,581,456 (GRCm39) |
I244L |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,172,524 (GRCm39) |
C1117* |
probably null |
Het |
| Wdr35 |
A |
G |
12: 9,058,020 (GRCm39) |
I526V |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,820,218 (GRCm39) |
W500R |
probably damaging |
Het |
| Zfr |
G |
T |
15: 12,135,357 (GRCm39) |
V49F |
noncoding transcript |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTGAATCAGACGGAGGACC -3'
(R):5'- CTGAGGAATCACAGCCATGAC -3'
Sequencing Primer
(F):5'- ACCACCGCCAGAGGGTTC -3'
(R):5'- TGACCAAATCCCTTCACAGCATTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation