Incidental Mutation 'R9779:Atp6v0a1'
ID |
733925 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9779 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
100900278-100954545 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 100924938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 341
(T341M)
|
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: T341M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044838 Gene: ENSMUSG00000019302 AA Change: T341M
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092663
AA Change: T341M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090333 Gene: ENSMUSG00000019302 AA Change: T341M
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
823 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103110
AA Change: T348M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099399 Gene: ENSMUSG00000019302 AA Change: T348M
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
27 |
829 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168757
AA Change: T341M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131848 Gene: ENSMUSG00000019302 AA Change: T341M
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff4 |
T |
G |
11: 53,263,734 (GRCm39) |
Y251* |
probably null |
Het |
Amdhd1 |
G |
T |
10: 93,370,474 (GRCm39) |
F121L |
possibly damaging |
Het |
Apon |
A |
T |
10: 128,091,065 (GRCm39) |
T248S |
probably benign |
Het |
Arhgap28 |
A |
T |
17: 68,152,764 (GRCm39) |
I719K |
probably benign |
Het |
Atf7ip2 |
A |
T |
16: 10,055,044 (GRCm39) |
K270N |
possibly damaging |
Het |
Atp2c1 |
A |
G |
9: 105,291,919 (GRCm39) |
V881A |
probably damaging |
Het |
Cep192 |
T |
C |
18: 67,968,348 (GRCm39) |
V944A |
probably damaging |
Het |
Cplane1 |
C |
A |
15: 8,230,786 (GRCm39) |
T1021K |
possibly damaging |
Het |
Cyp26b1 |
T |
C |
6: 84,552,113 (GRCm39) |
T342A |
probably benign |
Het |
Cyp2c37 |
A |
G |
19: 39,998,323 (GRCm39) |
E405G |
probably benign |
Het |
Dab2 |
T |
C |
15: 6,460,525 (GRCm39) |
S478P |
probably benign |
Het |
Diablo |
A |
G |
5: 123,662,132 (GRCm39) |
|
probably null |
Het |
Dnajc8 |
A |
G |
4: 132,277,737 (GRCm39) |
E174G |
possibly damaging |
Het |
Eif4g1 |
T |
C |
16: 20,498,251 (GRCm39) |
V336A |
probably damaging |
Het |
Eif5a |
C |
T |
11: 69,810,021 (GRCm39) |
V41I |
probably benign |
Het |
Epb41l5 |
C |
T |
1: 119,545,093 (GRCm39) |
|
probably null |
Het |
F12 |
A |
C |
13: 55,566,012 (GRCm39) |
V565G |
probably damaging |
Het |
Fras1 |
C |
A |
5: 96,717,353 (GRCm39) |
T389N |
probably damaging |
Het |
Galnt13 |
T |
A |
2: 54,623,062 (GRCm39) |
D69E |
probably benign |
Het |
Golph3l |
C |
T |
3: 95,499,041 (GRCm39) |
T61I |
probably damaging |
Het |
Grm3 |
A |
T |
5: 9,561,656 (GRCm39) |
N731K |
possibly damaging |
Het |
Hmgxb4 |
C |
T |
8: 75,750,629 (GRCm39) |
S484F |
possibly damaging |
Het |
Hsd17b11 |
C |
A |
5: 104,157,771 (GRCm39) |
V114F |
probably damaging |
Het |
Hspa1a |
C |
T |
17: 35,190,778 (GRCm39) |
V42M |
probably damaging |
Het |
Igf1r |
A |
G |
7: 67,654,065 (GRCm39) |
Y201C |
probably damaging |
Het |
Inf2 |
C |
A |
12: 112,574,786 (GRCm39) |
P786T |
unknown |
Het |
Ints12 |
T |
G |
3: 132,812,752 (GRCm39) |
V236G |
probably benign |
Het |
Itga2b |
T |
C |
11: 102,348,147 (GRCm39) |
N818S |
probably damaging |
Het |
Itgb4 |
T |
C |
11: 115,882,485 (GRCm39) |
L853P |
probably damaging |
Het |
Kap |
A |
G |
6: 133,829,006 (GRCm39) |
V42A |
probably benign |
Het |
Kcnk1 |
T |
C |
8: 126,751,807 (GRCm39) |
S138P |
probably damaging |
Het |
Klra2 |
G |
A |
6: 131,198,801 (GRCm39) |
P247S |
unknown |
Het |
Lrba |
T |
C |
3: 86,233,078 (GRCm39) |
I813T |
probably damaging |
Het |
Lrrc27 |
A |
T |
7: 138,816,886 (GRCm39) |
Q428L |
possibly damaging |
Het |
Macf1 |
G |
A |
4: 123,348,789 (GRCm39) |
T4046I |
probably benign |
Het |
Mast3 |
T |
C |
8: 71,238,127 (GRCm39) |
T521A |
probably damaging |
Het |
Meox1 |
T |
C |
11: 101,769,470 (GRCm39) |
E242G |
probably benign |
Het |
Neo1 |
A |
T |
9: 58,886,009 (GRCm39) |
L316* |
probably null |
Het |
Notch3 |
A |
G |
17: 32,372,757 (GRCm39) |
Y605H |
probably damaging |
Het |
Nsf |
T |
C |
11: 103,719,352 (GRCm39) |
D650G |
probably damaging |
Het |
Obscn |
C |
A |
11: 59,026,441 (GRCm39) |
R254L |
probably benign |
Het |
Odam |
G |
A |
5: 88,037,327 (GRCm39) |
|
probably null |
Het |
Or5v1b |
A |
T |
17: 37,841,048 (GRCm39) |
Y60F |
probably damaging |
Het |
Or7g12 |
A |
T |
9: 18,900,135 (GRCm39) |
M284L |
probably benign |
Het |
Pcdhb9 |
A |
T |
18: 37,535,253 (GRCm39) |
M416L |
probably benign |
Het |
Plcz1 |
A |
T |
6: 139,947,882 (GRCm39) |
I500N |
possibly damaging |
Het |
Prkn |
T |
C |
17: 11,854,318 (GRCm39) |
S285P |
possibly damaging |
Het |
Rab14 |
G |
A |
2: 35,080,047 (GRCm39) |
T50I |
|
Het |
Rag1 |
A |
T |
2: 101,474,153 (GRCm39) |
Y330N |
probably damaging |
Het |
Rapgef3 |
T |
C |
15: 97,643,479 (GRCm39) |
I911V |
probably damaging |
Het |
Rasgrf1 |
G |
T |
9: 89,873,551 (GRCm39) |
C620F |
probably damaging |
Het |
Rhbdl3 |
A |
G |
11: 80,214,317 (GRCm39) |
T143A |
probably damaging |
Het |
Robo2 |
A |
C |
16: 73,767,965 (GRCm39) |
M609R |
probably damaging |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Slc49a4 |
T |
C |
16: 35,543,186 (GRCm39) |
D316G |
probably benign |
Het |
Sod3 |
G |
A |
5: 52,525,435 (GRCm39) |
V45I |
probably benign |
Het |
Ticrr |
A |
G |
7: 79,328,802 (GRCm39) |
D647G |
probably benign |
Het |
Tmem119 |
G |
A |
5: 113,933,204 (GRCm39) |
S199L |
possibly damaging |
Het |
Tmem63c |
T |
A |
12: 87,104,419 (GRCm39) |
I80N |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,066,469 (GRCm39) |
D752E |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,550,570 (GRCm39) |
S31571P |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,667,146 (GRCm39) |
S11487T |
unknown |
Het |
Vmn1r123 |
T |
C |
7: 20,896,111 (GRCm39) |
M1T |
probably null |
Het |
Vmn1r85 |
A |
T |
7: 12,818,308 (GRCm39) |
S279T |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,798,972 (GRCm39) |
V3635A |
|
Het |
Wdr95 |
A |
G |
5: 149,505,293 (GRCm39) |
D358G |
probably benign |
Het |
Zfp1005 |
A |
G |
2: 150,108,064 (GRCm39) |
D8G |
possibly damaging |
Het |
Zfp764l1 |
A |
T |
7: 126,991,469 (GRCm39) |
C173S |
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 |
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 |
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 |
X0023:Atp6v0a1
|
UTSW |
11 |
100,935,423 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGAATCAGACGGAGGACC -3'
(R):5'- GTCCTGAGGAATCACAGCCATG -3'
Sequencing Primer
(F):5'- CAGAGGGTTCTGCAGGCAG -3'
(R):5'- TGACCAAATCCCTTCACAGCATTG -3'
|
Posted On |
2022-11-14 |