Incidental Mutation 'R5497:Atp6v0a1'
| ID |
432431 |
| 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 |
043058-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5497 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100900278-100954545 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100920011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 215
(V215M)
|
| 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: V215M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302
AA Change: V215M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092663
AA Change: V215M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302
AA Change: V215M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103110
AA Change: V222M
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302
AA Change: V222M
| 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: V215M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302
AA Change: V215M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185166
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.2%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
T |
11: 72,056,360 (GRCm39) |
M800K |
probably benign |
Het |
| Abca9 |
G |
A |
11: 110,021,518 (GRCm39) |
A1064V |
probably damaging |
Het |
| Acsm2 |
A |
T |
7: 119,172,543 (GRCm39) |
T129S |
possibly damaging |
Het |
| Adamts9 |
A |
T |
6: 92,831,346 (GRCm39) |
C755S |
probably damaging |
Het |
| Adarb1 |
T |
C |
10: 77,161,723 (GRCm39) |
D2G |
probably damaging |
Het |
| Apaf1 |
G |
A |
10: 90,835,518 (GRCm39) |
A1098V |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,966,533 (GRCm39) |
H537R |
probably benign |
Het |
| Atp2a2 |
C |
T |
5: 122,596,232 (GRCm39) |
C887Y |
probably damaging |
Het |
| Cacng8 |
A |
G |
7: 3,464,069 (GRCm39) |
E407G |
probably benign |
Het |
| Capn8 |
G |
A |
1: 182,447,745 (GRCm39) |
E535K |
probably benign |
Het |
| Cebpe |
A |
G |
14: 54,948,052 (GRCm39) |
F264L |
probably benign |
Het |
| Ces1c |
A |
C |
8: 93,857,343 (GRCm39) |
N79K |
possibly damaging |
Het |
| Cfap58 |
T |
G |
19: 48,017,548 (GRCm39) |
S803A |
probably benign |
Het |
| Cpa1 |
A |
G |
6: 30,640,729 (GRCm39) |
T124A |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,135,195 (GRCm39) |
S1654P |
probably benign |
Het |
| Dmbt1 |
A |
T |
7: 130,665,133 (GRCm39) |
|
probably benign |
Het |
| Eif3e |
T |
C |
15: 43,134,366 (GRCm39) |
Y127C |
probably damaging |
Het |
| Fhip2a |
G |
C |
19: 57,369,583 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
T |
C |
2: 57,915,340 (GRCm39) |
M632T |
probably damaging |
Het |
| Gja8 |
A |
G |
3: 96,827,513 (GRCm39) |
S50P |
probably damaging |
Het |
| Gon7 |
A |
G |
12: 102,720,363 (GRCm39) |
S90P |
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,187,133 (GRCm39) |
V1096I |
probably benign |
Het |
| Gxylt2 |
A |
G |
6: 100,764,290 (GRCm39) |
N325S |
probably benign |
Het |
| H2-Ob |
A |
G |
17: 34,460,144 (GRCm39) |
D85G |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,435,945 (GRCm39) |
I1161N |
possibly damaging |
Het |
| Hjurp |
G |
A |
1: 88,194,042 (GRCm39) |
H289Y |
possibly damaging |
Het |
| Hsd3b7 |
A |
G |
7: 127,401,060 (GRCm39) |
Y99C |
probably damaging |
Het |
| Ifnar1 |
T |
G |
16: 91,302,252 (GRCm39) |
Y21D |
probably benign |
Het |
| Isoc2b |
C |
T |
7: 4,853,782 (GRCm39) |
V131I |
probably benign |
Het |
| Klc3 |
T |
C |
7: 19,128,595 (GRCm39) |
I500V |
probably benign |
Het |
| Lrp5 |
C |
A |
19: 3,652,319 (GRCm39) |
G1184W |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,626,031 (GRCm39) |
I136T |
probably damaging |
Het |
| Map3k7 |
T |
C |
4: 31,991,719 (GRCm39) |
F319S |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,361,380 (GRCm39) |
T1564A |
probably damaging |
Het |
| Nptx2 |
A |
T |
5: 144,492,999 (GRCm39) |
D362V |
probably damaging |
Het |
| Nutf2-ps1 |
A |
T |
19: 53,577,265 (GRCm39) |
I52N |
probably damaging |
Het |
| Or2aj4 |
C |
T |
16: 19,385,080 (GRCm39) |
M184I |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,447,628 (GRCm39) |
Y2255F |
possibly damaging |
Het |
| Primpol |
A |
T |
8: 47,045,657 (GRCm39) |
Y308* |
probably null |
Het |
| Retreg2 |
G |
A |
1: 75,121,633 (GRCm39) |
V219I |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,080,253 (GRCm39) |
E675V |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,720,587 (GRCm39) |
M2687K |
probably null |
Het |
| Shank2 |
A |
G |
7: 143,963,271 (GRCm39) |
D293G |
probably damaging |
Het |
| Snx6 |
A |
G |
12: 54,803,846 (GRCm39) |
V154A |
probably damaging |
Het |
| Srm |
G |
T |
4: 148,678,566 (GRCm39) |
Q264H |
probably benign |
Het |
| Styk1 |
A |
T |
6: 131,281,670 (GRCm39) |
I316N |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,927,163 (GRCm39) |
N103S |
probably benign |
Het |
| Tas2r105 |
G |
A |
6: 131,663,805 (GRCm39) |
|
probably null |
Het |
| Tbcel |
T |
A |
9: 42,363,041 (GRCm39) |
M1L |
possibly damaging |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Tm9sf3 |
T |
C |
19: 41,203,555 (GRCm39) |
S574G |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,250,824 (GRCm39) |
V783E |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,924,906 (GRCm39) |
Y487N |
possibly damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zfp980 |
A |
G |
4: 145,428,017 (GRCm39) |
K249E |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTTCTGATGCCACCCAAG -3'
(R):5'- TCATTCCCAGTGAAAGCAGAACTG -3'
Sequencing Primer
(F):5'- CTTTAAAGCTAGGCCTGTAAGC -3'
(R):5'- AACTGAGGGATCTGCAGGCC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation