Incidental Mutation 'IGL00232:Atp6v0a4'
| ID |
45051 |
| 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 # |
IGL00232
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
38025418-38101521 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 38069725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 56
(R56*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040259]
[ENSMUST00000114908]
|
| AlphaFold |
Q920R6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040259
AA Change: R56*
|
| SMART Domains |
Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: R56*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
824 |
3.5e-293 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114908
AA Change: R56*
|
| SMART Domains |
Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: R56*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138385
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
A |
15: 81,950,581 (GRCm39) |
Q1493K |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,487,050 (GRCm39) |
|
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,387,787 (GRCm39) |
|
probably null |
Het |
| Asz1 |
T |
G |
6: 18,055,541 (GRCm39) |
|
probably null |
Het |
| Bend6 |
T |
C |
1: 33,922,619 (GRCm39) |
D8G |
possibly damaging |
Het |
| Ccdc171 |
T |
A |
4: 83,600,561 (GRCm39) |
C870* |
probably null |
Het |
| Cd163 |
A |
G |
6: 124,306,060 (GRCm39) |
|
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,118,325 (GRCm39) |
S1098P |
probably damaging |
Het |
| Col6a5 |
T |
G |
9: 105,759,882 (GRCm39) |
D1946A |
probably damaging |
Het |
| Gm6576 |
T |
A |
15: 27,025,884 (GRCm39) |
|
noncoding transcript |
Het |
| Gypa |
T |
G |
8: 81,231,408 (GRCm39) |
|
probably benign |
Het |
| Ighv9-3 |
T |
C |
12: 114,104,691 (GRCm39) |
|
probably benign |
Het |
| Itgb1 |
T |
G |
8: 129,440,399 (GRCm39) |
|
probably benign |
Het |
| Kctd15 |
A |
T |
7: 34,350,170 (GRCm39) |
|
probably null |
Het |
| Krtap13 |
A |
C |
16: 88,548,423 (GRCm39) |
S22A |
possibly damaging |
Het |
| Masp1 |
C |
T |
16: 23,276,841 (GRCm39) |
E555K |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,862,136 (GRCm39) |
S360T |
probably damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mfsd13a |
A |
G |
19: 46,354,958 (GRCm39) |
Y45C |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,125,568 (GRCm39) |
D3662G |
possibly damaging |
Het |
| Nkx6-1 |
T |
C |
5: 101,807,371 (GRCm39) |
D337G |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,211,251 (GRCm39) |
|
probably null |
Het |
| Palb2 |
T |
C |
7: 121,720,287 (GRCm39) |
H468R |
probably damaging |
Het |
| Plscr1l1 |
C |
T |
9: 92,233,005 (GRCm39) |
R43* |
probably null |
Het |
| Rai1 |
T |
G |
11: 60,076,217 (GRCm39) |
Y94D |
probably damaging |
Het |
| Slc27a3 |
A |
T |
3: 90,292,748 (GRCm39) |
Y605* |
probably null |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,670,951 (GRCm39) |
E677G |
possibly damaging |
Het |
| Tstd2 |
A |
T |
4: 46,120,002 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,494,701 (GRCm39) |
I412T |
probably damaging |
Het |
|
| Other mutations in Atp6v0a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL01953:Atp6v0a4
|
APN |
6 |
38,031,552 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2013-06-11 |
Incidental Mutation