Incidental Mutation 'IGL01024:Atp6v0a1'
ID |
53897 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atp6v0a1
|
Ensembl Gene |
ENSMUSG00000019302 |
Gene Name |
ATPase, H+ transporting, lysosomal V0 subunit A1 |
Synonyms |
V-ATPase a1, Vpp-1, Vpp1, Atp6n1, Atp6n1a |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01024
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
100900278-100954545 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100939265 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 677
(I677V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131848
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044721]
[ENSMUST00000092663]
[ENSMUST00000103110]
[ENSMUST00000168757]
|
AlphaFold |
Q9Z1G4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044721
AA Change: I677V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000044838 Gene: ENSMUSG00000019302 AA Change: I677V
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092663
AA Change: I677V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000090333 Gene: ENSMUSG00000019302 AA Change: I677V
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
823 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103110
AA Change: I684V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099399 Gene: ENSMUSG00000019302 AA Change: I684V
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
27 |
829 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127810
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139857
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154896
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168757
AA Change: I677V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000131848 Gene: ENSMUSG00000019302 AA Change: I677V
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
Coding Region Coverage |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
T |
C |
19: 3,767,040 (GRCm39) |
V209A |
probably benign |
Het |
Abca6 |
T |
A |
11: 110,087,968 (GRCm39) |
Y1053F |
probably benign |
Het |
Acot12 |
C |
T |
13: 91,929,330 (GRCm39) |
Q386* |
probably null |
Het |
Adamts16 |
A |
G |
13: 70,943,603 (GRCm39) |
V336A |
probably benign |
Het |
Ankrd49 |
A |
G |
9: 14,694,099 (GRCm39) |
F23L |
probably damaging |
Het |
Aspm |
A |
T |
1: 139,405,862 (GRCm39) |
H1583L |
possibly damaging |
Het |
Brinp1 |
A |
T |
4: 68,680,731 (GRCm39) |
W600R |
probably damaging |
Het |
Ccdc185 |
T |
C |
1: 182,574,988 (GRCm39) |
E567G |
possibly damaging |
Het |
Clip2 |
T |
C |
5: 134,539,066 (GRCm39) |
D445G |
probably damaging |
Het |
Elp5 |
T |
C |
11: 69,859,248 (GRCm39) |
|
probably benign |
Het |
Gm9376 |
A |
G |
14: 118,504,570 (GRCm39) |
M1V |
probably null |
Het |
Gtf2a1l |
A |
G |
17: 88,978,719 (GRCm39) |
K40R |
probably damaging |
Het |
Hdc |
A |
G |
2: 126,445,766 (GRCm39) |
V246A |
probably benign |
Het |
Hectd2 |
T |
A |
19: 36,583,793 (GRCm39) |
F479L |
probably damaging |
Het |
Hipk1 |
G |
T |
3: 103,667,952 (GRCm39) |
N538K |
probably benign |
Het |
Kif27 |
T |
A |
13: 58,436,015 (GRCm39) |
E1259D |
possibly damaging |
Het |
Klhdc2 |
T |
A |
12: 69,352,610 (GRCm39) |
N256K |
probably benign |
Het |
Krt71 |
C |
T |
15: 101,645,109 (GRCm39) |
A401T |
probably damaging |
Het |
Mapk3 |
A |
T |
7: 126,363,946 (GRCm39) |
K312* |
probably null |
Het |
Med12l |
G |
T |
3: 58,980,762 (GRCm39) |
S365I |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,619,944 (GRCm39) |
K11R |
probably benign |
Het |
Nox3 |
A |
T |
17: 3,733,290 (GRCm39) |
I187N |
probably damaging |
Het |
Nudcd1 |
T |
A |
15: 44,284,222 (GRCm39) |
M55L |
probably benign |
Het |
Or1a1b |
A |
T |
11: 74,097,481 (GRCm39) |
L187Q |
probably damaging |
Het |
Or4f59 |
A |
T |
2: 111,872,716 (GRCm39) |
F220L |
probably benign |
Het |
Or8b57 |
A |
G |
9: 40,004,029 (GRCm39) |
S78P |
probably damaging |
Het |
Pard6g |
T |
C |
18: 80,123,037 (GRCm39) |
|
probably benign |
Het |
Pbrm1 |
G |
A |
14: 30,774,217 (GRCm39) |
R461H |
probably damaging |
Het |
Ppm1f |
C |
A |
16: 16,741,633 (GRCm39) |
T369K |
probably benign |
Het |
Ppp1r16b |
C |
T |
2: 158,582,736 (GRCm39) |
|
probably benign |
Het |
Pramel29 |
A |
T |
4: 143,935,045 (GRCm39) |
I232K |
possibly damaging |
Het |
Prom2 |
T |
C |
2: 127,383,059 (GRCm39) |
N61S |
probably benign |
Het |
Psmc2 |
T |
C |
5: 22,006,196 (GRCm39) |
|
probably benign |
Het |
Psme2 |
A |
G |
14: 55,825,893 (GRCm39) |
|
probably benign |
Het |
Ptprc |
T |
C |
1: 138,008,650 (GRCm39) |
H655R |
probably damaging |
Het |
Pxdn |
A |
C |
12: 30,037,098 (GRCm39) |
N292T |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 78,977,445 (GRCm39) |
I1301V |
probably benign |
Het |
Rnase11 |
T |
C |
14: 51,287,321 (GRCm39) |
I78V |
probably benign |
Het |
Rpl41 |
A |
G |
10: 128,384,246 (GRCm39) |
|
probably benign |
Het |
Sgf29 |
G |
A |
7: 126,264,103 (GRCm39) |
R56Q |
possibly damaging |
Het |
Sis |
A |
G |
3: 72,819,209 (GRCm39) |
L1449S |
probably damaging |
Het |
Slc34a2 |
T |
A |
5: 53,224,972 (GRCm39) |
V371D |
possibly damaging |
Het |
Son |
C |
A |
16: 91,452,798 (GRCm39) |
T515K |
probably damaging |
Het |
Tbx15 |
A |
T |
3: 99,223,562 (GRCm39) |
D250V |
probably damaging |
Het |
Thoc2l |
T |
G |
5: 104,669,612 (GRCm39) |
V1378G |
probably benign |
Het |
Tmem171 |
T |
A |
13: 98,823,026 (GRCm39) |
|
probably null |
Het |
Ugt2b36 |
C |
T |
5: 87,228,728 (GRCm39) |
|
probably null |
Het |
Vill |
G |
A |
9: 118,899,418 (GRCm39) |
|
probably null |
Het |
Vmn2r22 |
A |
G |
6: 123,615,012 (GRCm39) |
F193L |
probably damaging |
Het |
Vmn2r95 |
C |
T |
17: 18,672,590 (GRCm39) |
|
probably benign |
Het |
Vstm2a |
T |
A |
11: 16,231,874 (GRCm39) |
V223D |
possibly 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 |
|
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 |
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 |
|
Posted On |
2013-06-28 |