Incidental Mutation 'R6076:Atp6v0a1'
| ID |
482750 |
| 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 |
044237-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6076 (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 A
at 100945886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 723
(I723N)
|
| 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: I723N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302
AA Change: I723N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092663
AA Change: I717N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302
AA Change: I717N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103110
AA Change: I724N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302
AA Change: I724N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168757
AA Change: I723N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302
AA Change: I723N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| C530025M09Rik |
T |
C |
2: 149,672,670 (GRCm39) |
|
probably benign |
Het |
| Cdkn1a |
A |
G |
17: 29,318,332 (GRCm39) |
K149E |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,180,558 (GRCm39) |
I571N |
probably damaging |
Het |
| Cimip4 |
T |
C |
15: 78,270,427 (GRCm39) |
R114G |
possibly damaging |
Het |
| Col9a1 |
A |
T |
1: 24,234,457 (GRCm39) |
|
probably benign |
Het |
| Csde1 |
G |
A |
3: 102,948,545 (GRCm39) |
D132N |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,425,895 (GRCm39) |
Q256R |
probably damaging |
Het |
| Epha6 |
A |
T |
16: 60,026,073 (GRCm39) |
D456E |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,330,297 (GRCm39) |
V354A |
probably damaging |
Het |
| Fpr-rs4 |
A |
G |
17: 18,242,317 (GRCm39) |
N108S |
probably damaging |
Het |
| Gimap1 |
C |
T |
6: 48,719,521 (GRCm39) |
Q116* |
probably null |
Het |
| Gm10784 |
T |
C |
13: 50,099,310 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2ip |
G |
C |
5: 143,373,130 (GRCm39) |
S736T |
probably benign |
Het |
| Hic1 |
T |
C |
11: 75,058,154 (GRCm39) |
D245G |
probably damaging |
Het |
| Hpcal4 |
C |
A |
4: 123,084,514 (GRCm39) |
Q148K |
probably benign |
Het |
| Hspa14 |
C |
T |
2: 3,512,109 (GRCm39) |
S55N |
probably benign |
Het |
| Hspa1b |
G |
A |
17: 35,176,473 (GRCm39) |
T504I |
probably damaging |
Het |
| Jchain |
G |
T |
5: 88,675,631 (GRCm39) |
T3N |
probably benign |
Het |
| Kl |
C |
G |
5: 150,876,466 (GRCm39) |
F95L |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,481,954 (GRCm39) |
T115A |
probably damaging |
Het |
| Lrp8 |
G |
T |
4: 107,704,656 (GRCm39) |
R292L |
possibly damaging |
Het |
| Lrrc15 |
T |
A |
16: 30,091,806 (GRCm39) |
D511V |
probably benign |
Het |
| Mapk8 |
A |
G |
14: 33,112,250 (GRCm39) |
C213R |
probably damaging |
Het |
| Mcph1 |
C |
T |
8: 18,682,015 (GRCm39) |
P384L |
probably benign |
Het |
| Mrps7 |
T |
C |
11: 115,495,713 (GRCm39) |
S84P |
probably damaging |
Het |
| Nceh1 |
A |
C |
3: 27,333,344 (GRCm39) |
I147L |
probably benign |
Het |
| Noxa1 |
A |
T |
2: 24,975,821 (GRCm39) |
I409N |
probably damaging |
Het |
| Or1p1c |
T |
C |
11: 74,161,088 (GRCm39) |
I291T |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,800,004 (GRCm39) |
G2975R |
probably benign |
Het |
| Ppip5k1 |
T |
C |
2: 121,167,591 (GRCm39) |
D17G |
probably null |
Het |
| Prex2 |
T |
A |
1: 11,256,174 (GRCm39) |
Y1182N |
probably benign |
Het |
| Rasa2 |
T |
C |
9: 96,427,699 (GRCm39) |
N722S |
probably benign |
Het |
| Rcc1l |
A |
G |
5: 134,198,167 (GRCm39) |
V155A |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,430,821 (GRCm39) |
E1080G |
unknown |
Het |
| Sacs |
A |
T |
14: 61,441,985 (GRCm39) |
K1344* |
probably null |
Het |
| Sec16a |
C |
T |
2: 26,313,954 (GRCm39) |
E1884K |
probably damaging |
Het |
| Secisbp2 |
C |
A |
13: 51,833,813 (GRCm39) |
T651K |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,291,100 (GRCm39) |
D620G |
probably benign |
Het |
| Slc6a17 |
A |
G |
3: 107,379,387 (GRCm39) |
S553P |
possibly damaging |
Het |
| Smpd5 |
C |
A |
15: 76,179,092 (GRCm39) |
N153K |
probably damaging |
Het |
| Ube2d4 |
T |
A |
15: 58,718,992 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13c |
A |
G |
9: 67,818,884 (GRCm39) |
I1102V |
probably damaging |
Het |
| Wdr36 |
C |
A |
18: 32,979,998 (GRCm39) |
S241Y |
probably damaging |
Het |
| Wdr7 |
T |
A |
18: 63,872,348 (GRCm39) |
D427E |
probably damaging |
Het |
| Zfp945 |
G |
A |
17: 23,070,432 (GRCm39) |
P489L |
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 |
|
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'- AGGCCAGGAAGGATTTCTGG -3'
(R):5'- AGAACCATCATGTGTTTCTGTGC -3'
Sequencing Primer
(F):5'- GAAGTCGTTGCTGAAATCACC -3'
(R):5'- TTCTGTGCTGAGGAAGGCCC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation