Incidental Mutation 'IGL01953:Atp6v0a4'
ID |
181352 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atp6v0a4
|
Ensembl Gene |
ENSMUSG00000038600 |
Gene Name |
ATPase, H+ transporting, lysosomal V0 subunit A4 |
Synonyms |
Atp6n1b, V-ATPase alpha 4 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01953
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
38025418-38101521 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38031552 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 650
(S650P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040259]
[ENSMUST00000114908]
|
AlphaFold |
Q920R6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040259
AA Change: S650P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000039381 Gene: ENSMUSG00000038600 AA Change: S650P
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
824 |
3.5e-293 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114908
AA Change: S650P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110558 Gene: ENSMUSG00000038600 AA Change: S650P
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
27 |
823 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132736
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135594
|
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 intracellular compartments of eukaryotic cells. V-ATPase dependent 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. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null mutation display postnatal or premature lethality, hyperchloremic hypokalemic acidosis with hypocitraturia, inner ear defects, impaired hearing, and impaired olfaction. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anks3 |
G |
A |
16: 4,778,408 (GRCm39) |
A8V |
probably damaging |
Het |
B3glct |
C |
A |
5: 149,669,000 (GRCm39) |
D311E |
probably benign |
Het |
Cc2d1a |
G |
A |
8: 84,870,607 (GRCm39) |
P119S |
probably benign |
Het |
Cdcp3 |
T |
C |
7: 130,826,709 (GRCm39) |
M261T |
probably benign |
Het |
Chdh |
T |
C |
14: 29,757,304 (GRCm39) |
V409A |
probably benign |
Het |
Cipc |
T |
A |
12: 86,999,538 (GRCm39) |
V4E |
possibly damaging |
Het |
Dock2 |
G |
T |
11: 34,623,183 (GRCm39) |
T70K |
probably benign |
Het |
Dpf1 |
T |
C |
7: 29,013,732 (GRCm39) |
V269A |
probably damaging |
Het |
Drc7 |
A |
T |
8: 95,785,753 (GRCm39) |
Y203F |
probably damaging |
Het |
Dsg3 |
C |
T |
18: 20,658,361 (GRCm39) |
T324I |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Iqcd |
A |
T |
5: 120,738,554 (GRCm39) |
N124I |
probably benign |
Het |
Kdm7a |
T |
C |
6: 39,123,836 (GRCm39) |
N776S |
probably benign |
Het |
Lama5 |
C |
T |
2: 179,832,497 (GRCm39) |
R1684H |
probably damaging |
Het |
Lrp12 |
A |
T |
15: 39,741,497 (GRCm39) |
V406D |
probably damaging |
Het |
Lrrc74a |
T |
A |
12: 86,788,494 (GRCm39) |
L158Q |
probably damaging |
Het |
Mef2d |
C |
T |
3: 88,063,813 (GRCm39) |
T80I |
probably damaging |
Het |
Megf11 |
T |
C |
9: 64,597,370 (GRCm39) |
C681R |
probably damaging |
Het |
Mex3c |
A |
G |
18: 73,723,104 (GRCm39) |
D399G |
probably damaging |
Het |
Muc20 |
T |
C |
16: 32,614,073 (GRCm39) |
T435A |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,702,838 (GRCm39) |
Y10H |
possibly damaging |
Het |
Or12d13 |
T |
C |
17: 37,647,766 (GRCm39) |
D119G |
probably damaging |
Het |
Or4k40 |
A |
G |
2: 111,250,657 (GRCm39) |
L213P |
probably benign |
Het |
Otoa |
T |
A |
7: 120,759,548 (GRCm39) |
|
probably null |
Het |
P4ha2 |
T |
C |
11: 54,004,996 (GRCm39) |
F124S |
probably benign |
Het |
Phkg2 |
C |
T |
7: 127,181,512 (GRCm39) |
P232S |
probably damaging |
Het |
Piezo1 |
T |
A |
8: 123,217,923 (GRCm39) |
Q800L |
probably damaging |
Het |
Pign |
C |
A |
1: 105,516,764 (GRCm39) |
|
probably benign |
Het |
Pik3r5 |
A |
G |
11: 68,384,997 (GRCm39) |
D634G |
probably benign |
Het |
Ptpn9 |
A |
G |
9: 56,964,072 (GRCm39) |
T402A |
possibly damaging |
Het |
Relb |
A |
C |
7: 19,349,482 (GRCm39) |
|
probably null |
Het |
Scgb1b30 |
A |
G |
7: 33,799,302 (GRCm39) |
Q78R |
probably damaging |
Het |
Sema6a |
C |
T |
18: 47,423,187 (GRCm39) |
W273* |
probably null |
Het |
Sestd1 |
A |
G |
2: 77,042,813 (GRCm39) |
V247A |
possibly damaging |
Het |
Specc1 |
T |
A |
11: 62,009,122 (GRCm39) |
S293T |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,799,721 (GRCm39) |
D2145G |
probably benign |
Het |
Trim43b |
T |
A |
9: 88,967,496 (GRCm39) |
D380V |
possibly damaging |
Het |
Vmn1r236 |
A |
G |
17: 21,507,473 (GRCm39) |
Y197C |
possibly damaging |
Het |
Vmn1r79 |
A |
G |
7: 11,910,382 (GRCm39) |
Y88C |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r61 |
G |
A |
7: 41,949,613 (GRCm39) |
V678M |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,042,894 (GRCm39) |
Y1937* |
probably null |
Het |
|
Other mutations in Atp6v0a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00232:Atp6v0a4
|
APN |
6 |
38,069,725 (GRCm39) |
nonsense |
probably null |
|
IGL01358:Atp6v0a4
|
APN |
6 |
38,051,145 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01781:Atp6v0a4
|
APN |
6 |
38,051,095 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01934:Atp6v0a4
|
APN |
6 |
38,028,481 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03190:Atp6v0a4
|
APN |
6 |
38,031,491 (GRCm39) |
missense |
probably benign |
0.02 |
R0049:Atp6v0a4
|
UTSW |
6 |
38,059,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:Atp6v0a4
|
UTSW |
6 |
38,059,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R0100:Atp6v0a4
|
UTSW |
6 |
38,053,750 (GRCm39) |
missense |
probably benign |
|
R0105:Atp6v0a4
|
UTSW |
6 |
38,030,064 (GRCm39) |
splice site |
probably benign |
|
R1569:Atp6v0a4
|
UTSW |
6 |
38,027,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R1754:Atp6v0a4
|
UTSW |
6 |
38,044,764 (GRCm39) |
missense |
probably benign |
|
R2142:Atp6v0a4
|
UTSW |
6 |
38,059,871 (GRCm39) |
nonsense |
probably null |
|
R2162:Atp6v0a4
|
UTSW |
6 |
38,065,581 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2433:Atp6v0a4
|
UTSW |
6 |
38,058,964 (GRCm39) |
critical splice donor site |
probably null |
|
R2892:Atp6v0a4
|
UTSW |
6 |
38,029,952 (GRCm39) |
missense |
probably benign |
0.00 |
R4599:Atp6v0a4
|
UTSW |
6 |
38,055,737 (GRCm39) |
missense |
probably benign |
0.01 |
R4687:Atp6v0a4
|
UTSW |
6 |
38,069,400 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4716:Atp6v0a4
|
UTSW |
6 |
38,037,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R4938:Atp6v0a4
|
UTSW |
6 |
38,055,749 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5062:Atp6v0a4
|
UTSW |
6 |
38,051,118 (GRCm39) |
missense |
probably benign |
0.05 |
R5437:Atp6v0a4
|
UTSW |
6 |
38,053,668 (GRCm39) |
missense |
probably damaging |
0.97 |
R5440:Atp6v0a4
|
UTSW |
6 |
38,069,752 (GRCm39) |
missense |
probably damaging |
0.96 |
R5697:Atp6v0a4
|
UTSW |
6 |
38,027,442 (GRCm39) |
splice site |
probably null |
|
R5698:Atp6v0a4
|
UTSW |
6 |
38,027,442 (GRCm39) |
splice site |
probably null |
|
R6425:Atp6v0a4
|
UTSW |
6 |
38,027,446 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7659:Atp6v0a4
|
UTSW |
6 |
38,048,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R8004:Atp6v0a4
|
UTSW |
6 |
38,027,484 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8270:Atp6v0a4
|
UTSW |
6 |
38,051,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R8683:Atp6v0a4
|
UTSW |
6 |
38,025,926 (GRCm39) |
makesense |
probably null |
|
R9007:Atp6v0a4
|
UTSW |
6 |
38,029,988 (GRCm39) |
missense |
probably benign |
|
R9359:Atp6v0a4
|
UTSW |
6 |
38,059,048 (GRCm39) |
missense |
probably benign |
0.21 |
R9475:Atp6v0a4
|
UTSW |
6 |
38,037,917 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Atp6v0a4
|
UTSW |
6 |
38,025,971 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2014-05-07 |