Incidental Mutation 'R8461:Atp6v0a1'
| ID |
655291 |
| 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 |
067837-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100900278-100954545 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 100935400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 653
(L653R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044721]
[ENSMUST00000092663]
[ENSMUST00000103110]
[ENSMUST00000168757]
|
| AlphaFold |
Q9Z1G4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044721
AA Change: L653R
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302
AA Change: L653R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092663
AA Change: L653R
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302
AA Change: L653R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103110
AA Change: L660R
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302
AA Change: L660R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168757
AA Change: L653R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302
AA Change: L653R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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 |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| 4921539E11Rik |
T |
C |
4: 103,112,712 (GRCm39) |
D132G |
probably benign |
Het |
| Abca16 |
T |
C |
7: 120,035,918 (GRCm39) |
F334L |
possibly damaging |
Het |
| Ache |
T |
C |
5: 137,288,582 (GRCm39) |
F96S |
probably damaging |
Het |
| Actg1 |
T |
C |
11: 120,239,010 (GRCm39) |
T27A |
unknown |
Het |
| Ankrd27 |
T |
C |
7: 35,326,911 (GRCm39) |
L752P |
probably damaging |
Het |
| Atp1a1 |
T |
A |
3: 101,496,405 (GRCm39) |
T417S |
probably benign |
Het |
| Aurkb |
T |
C |
11: 68,941,727 (GRCm39) |
V293A |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 142,980,802 (GRCm39) |
D654E |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,001,440 (GRCm39) |
V297A |
possibly damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
| Ccdc187 |
A |
G |
2: 26,183,814 (GRCm39) |
L62P |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,783,522 (GRCm39) |
V69A |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 103,998,280 (GRCm39) |
V1156A |
possibly damaging |
Het |
| Defb37 |
G |
A |
8: 19,036,386 (GRCm39) |
H45Y |
unknown |
Het |
| Dgke |
T |
C |
11: 88,939,819 (GRCm39) |
M367V |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,027,915 (GRCm39) |
K640R |
probably benign |
Het |
| Gm5478 |
A |
T |
15: 101,554,652 (GRCm39) |
L148Q |
probably damaging |
Het |
| Hhla1 |
A |
T |
15: 65,795,723 (GRCm39) |
S494R |
probably benign |
Het |
| Kcne4 |
G |
A |
1: 78,795,433 (GRCm39) |
S27N |
probably benign |
Het |
| Klhdc7b |
A |
T |
15: 89,271,824 (GRCm39) |
H244L |
probably damaging |
Het |
| Lrrc40 |
T |
C |
3: 157,764,371 (GRCm39) |
S429P |
possibly damaging |
Het |
| Map3k21 |
A |
T |
8: 126,671,361 (GRCm39) |
D883V |
probably benign |
Het |
| Med4 |
T |
C |
14: 73,755,468 (GRCm39) |
S259P |
unknown |
Het |
| Mrm3 |
T |
C |
11: 76,135,158 (GRCm39) |
I123T |
probably damaging |
Het |
| Mrpl1 |
T |
A |
5: 96,361,646 (GRCm39) |
V11D |
probably damaging |
Het |
| Myl1 |
G |
A |
1: 66,983,994 (GRCm39) |
P24L |
unknown |
Het |
| Necap2 |
T |
C |
4: 140,797,531 (GRCm39) |
K168R |
probably damaging |
Het |
| Nnt |
A |
G |
13: 119,505,038 (GRCm39) |
S559P |
unknown |
Het |
| Nox4 |
T |
C |
7: 86,966,479 (GRCm39) |
F197L |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,007,963 (GRCm39) |
|
probably null |
Het |
| Nxph2 |
T |
C |
2: 23,211,529 (GRCm39) |
V10A |
unknown |
Het |
| Or1e16 |
T |
A |
11: 73,285,982 (GRCm39) |
I289F |
probably damaging |
Het |
| Or8c11 |
T |
A |
9: 38,289,777 (GRCm39) |
V194D |
probably damaging |
Het |
| Or8k38 |
G |
A |
2: 86,487,890 (GRCm39) |
T304I |
probably benign |
Het |
| P2ry2 |
G |
T |
7: 100,647,895 (GRCm39) |
R137S |
possibly damaging |
Het |
| Plxnb3 |
T |
C |
X: 72,803,103 (GRCm39) |
Y324H |
probably damaging |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Ppme1 |
T |
C |
7: 100,021,012 (GRCm39) |
S7G |
probably benign |
Het |
| Rabep1 |
T |
A |
11: 70,775,681 (GRCm39) |
M85K |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,312,216 (GRCm39) |
Y979H |
probably damaging |
Het |
| Rapgef5 |
T |
C |
12: 117,677,844 (GRCm39) |
S360P |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,592,970 (GRCm39) |
H623Q |
probably damaging |
Het |
| Rev1 |
G |
T |
1: 38,122,868 (GRCm39) |
T450K |
possibly damaging |
Het |
| Sec23ip |
T |
A |
7: 128,373,926 (GRCm39) |
L716Q |
probably benign |
Het |
| Sp2 |
T |
C |
11: 96,846,739 (GRCm39) |
T535A |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,011,463 (GRCm39) |
S61P |
probably benign |
Het |
| Tcf4 |
T |
C |
18: 69,598,501 (GRCm39) |
V72A |
probably benign |
Het |
| Tmem131 |
G |
A |
1: 36,833,902 (GRCm39) |
S1726F |
probably damaging |
Het |
| Trim13 |
T |
C |
14: 61,842,921 (GRCm39) |
Y313H |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,611,437 (GRCm39) |
V17365A |
possibly damaging |
Het |
| Uap1l1 |
G |
A |
2: 25,255,422 (GRCm39) |
A69V |
probably benign |
Het |
| Upp2 |
A |
G |
2: 58,670,068 (GRCm39) |
D258G |
probably benign |
Het |
| Vmn1r44 |
A |
T |
6: 89,870,701 (GRCm39) |
H149L |
possibly damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,358,453 (GRCm39) |
D600G |
probably benign |
Het |
| Zfp869 |
G |
T |
8: 70,160,305 (GRCm39) |
H89Q |
probably benign |
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 |
|
R8289:Atp6v0a1
|
UTSW |
11 |
100,924,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACACTTACTGGGTTTGTCCTGG -3'
(R):5'- GGGTTCATGCTCATATGTAACCC -3'
Sequencing Primer
(F):5'- CTGGTGCCAGCTCATTACTTAGAG -3'
(R):5'- TTCATGCTCATATGTAACCCAAATCC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation