Incidental Mutation 'IGL01781:Atp6v0a4'
| ID |
153920 |
| 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 # |
IGL01781
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
38025418-38101521 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38051095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 428
(N428D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040259]
[ENSMUST00000114908]
|
| AlphaFold |
Q920R6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040259
AA Change: N428D
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: N428D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
824 |
3.5e-293 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114908
AA Change: N428D
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: N428D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144752
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,349,280 (GRCm39) |
I3618N |
probably damaging |
Het |
| Acss1 |
A |
G |
2: 150,479,792 (GRCm39) |
L305P |
probably damaging |
Het |
| Alox12e |
A |
T |
11: 70,212,282 (GRCm39) |
L132Q |
probably damaging |
Het |
| Ccdc80 |
C |
T |
16: 44,946,493 (GRCm39) |
H811Y |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,680,515 (GRCm39) |
M596V |
probably benign |
Het |
| Cpn1 |
T |
A |
19: 43,954,657 (GRCm39) |
E323V |
possibly damaging |
Het |
| Cul9 |
A |
G |
17: 46,850,230 (GRCm39) |
S447P |
probably benign |
Het |
| Cyp2f2 |
A |
T |
7: 26,829,846 (GRCm39) |
Y182F |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,039,558 (GRCm39) |
M2104V |
possibly damaging |
Het |
| Eri3 |
T |
C |
4: 117,421,874 (GRCm39) |
F51L |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,965,698 (GRCm39) |
S486G |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Ifna4 |
T |
C |
4: 88,760,389 (GRCm39) |
S98P |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,072,588 (GRCm39) |
K340R |
probably benign |
Het |
| Man2b2 |
T |
C |
5: 36,971,089 (GRCm39) |
N759S |
possibly damaging |
Het |
| Mfsd1 |
A |
G |
3: 67,495,244 (GRCm39) |
|
probably benign |
Het |
| Or2d36 |
T |
A |
7: 106,746,903 (GRCm39) |
C127S |
probably damaging |
Het |
| Pdcd6ip |
G |
T |
9: 113,520,566 (GRCm39) |
N139K |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,167,349 (GRCm39) |
I193N |
possibly damaging |
Het |
| Pip4p2 |
T |
C |
4: 14,893,566 (GRCm39) |
L143S |
probably damaging |
Het |
| Pramel28 |
C |
A |
4: 143,692,299 (GRCm39) |
C234F |
probably benign |
Het |
| Psg27 |
T |
A |
7: 18,298,989 (GRCm39) |
T111S |
probably damaging |
Het |
| Ptprs |
G |
A |
17: 56,742,676 (GRCm39) |
L489F |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 91,996,846 (GRCm39) |
V76A |
probably benign |
Het |
| Scd1 |
A |
T |
19: 44,388,787 (GRCm39) |
M221K |
possibly damaging |
Het |
| Slc38a7 |
A |
G |
8: 96,570,386 (GRCm39) |
|
probably null |
Het |
| Spon2 |
T |
C |
5: 33,372,904 (GRCm39) |
D266G |
probably benign |
Het |
| Spry4 |
C |
T |
18: 38,723,478 (GRCm39) |
G95D |
probably damaging |
Het |
| Supt20 |
A |
G |
3: 54,602,626 (GRCm39) |
M1V |
probably null |
Het |
| Trappc11 |
A |
C |
8: 47,967,163 (GRCm39) |
F404V |
possibly damaging |
Het |
| Vmn1r178 |
C |
A |
7: 23,593,434 (GRCm39) |
Q161K |
probably damaging |
Het |
| Vmn2r25 |
T |
C |
6: 123,816,324 (GRCm39) |
E419G |
possibly damaging |
Het |
| Vstm5 |
A |
G |
9: 15,168,968 (GRCm39) |
H146R |
probably damaging |
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 |
|
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 |
2014-02-04 |
Incidental Mutation