Incidental Mutation 'IGL01934:Atp6v0a4'
ID |
180558 |
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 # |
IGL01934
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
38025418-38101521 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 38028481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 712
(I712F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040259]
[ENSMUST00000096040]
[ENSMUST00000114908]
|
AlphaFold |
Q920R6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040259
AA Change: I712F
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000039381 Gene: ENSMUSG00000038600 AA Change: I712F
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
824 |
3.5e-293 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000040486
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096040
|
SMART Domains |
Protein: ENSMUSP00000093743 Gene: ENSMUSG00000029830
Domain | Start | End | E-Value | Type |
Pfam:Sugar_tr
|
17 |
297 |
5.5e-20 |
PFAM |
Pfam:MFS_1
|
50 |
308 |
2.1e-20 |
PFAM |
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
transmembrane domain
|
384 |
406 |
N/A |
INTRINSIC |
transmembrane domain
|
459 |
481 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114908
AA Change: I712F
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110558 Gene: ENSMUSG00000038600 AA Change: I712F
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,823,112 (GRCm39) |
K362E |
probably damaging |
Het |
4932438H23Rik |
T |
A |
16: 90,852,753 (GRCm39) |
T128S |
probably damaging |
Het |
Aars1 |
T |
A |
8: 111,774,650 (GRCm39) |
I593N |
probably damaging |
Het |
Abca6 |
A |
T |
11: 110,079,481 (GRCm39) |
N1224K |
probably benign |
Het |
Abcc5 |
A |
T |
16: 20,241,191 (GRCm39) |
|
probably benign |
Het |
Adam7 |
A |
G |
14: 68,770,048 (GRCm39) |
L35P |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,980,021 (GRCm39) |
L435Q |
probably damaging |
Het |
Ankef1 |
A |
G |
2: 136,394,451 (GRCm39) |
E620G |
possibly damaging |
Het |
Aoc1l3 |
A |
T |
6: 48,965,695 (GRCm39) |
I568F |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,545,092 (GRCm39) |
L1082* |
probably null |
Het |
Bco1 |
T |
A |
8: 117,822,784 (GRCm39) |
F5L |
possibly damaging |
Het |
Cacna2d4 |
A |
T |
6: 119,285,729 (GRCm39) |
S794C |
probably damaging |
Het |
Camk2d |
T |
C |
3: 126,628,304 (GRCm39) |
|
probably null |
Het |
Capn15 |
T |
C |
17: 26,181,998 (GRCm39) |
T604A |
probably damaging |
Het |
Cd180 |
A |
T |
13: 102,839,366 (GRCm39) |
D83V |
probably damaging |
Het |
Ces1a |
C |
A |
8: 93,759,278 (GRCm39) |
R286L |
probably damaging |
Het |
Col6a6 |
A |
G |
9: 105,575,858 (GRCm39) |
|
probably null |
Het |
Crnkl1 |
A |
G |
2: 145,773,202 (GRCm39) |
V148A |
probably benign |
Het |
Epas1 |
A |
T |
17: 87,131,157 (GRCm39) |
K312N |
probably damaging |
Het |
Fbxw2 |
T |
C |
2: 34,712,618 (GRCm39) |
S148G |
probably damaging |
Het |
Fig4 |
T |
C |
10: 41,104,108 (GRCm39) |
T791A |
probably benign |
Het |
Galnt9 |
A |
T |
5: 110,750,502 (GRCm39) |
I340F |
possibly damaging |
Het |
Gfap |
G |
A |
11: 102,785,286 (GRCm39) |
A230V |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm454 |
T |
C |
5: 138,205,424 (GRCm39) |
|
noncoding transcript |
Het |
Il24 |
A |
T |
1: 130,811,614 (GRCm39) |
L115Q |
probably damaging |
Het |
Ipp |
C |
A |
4: 116,367,852 (GRCm39) |
N28K |
probably damaging |
Het |
Kalrn |
A |
T |
16: 34,018,882 (GRCm39) |
|
probably null |
Het |
Klf10 |
C |
T |
15: 38,297,528 (GRCm39) |
V171M |
probably benign |
Het |
Man1b1 |
T |
C |
2: 25,235,523 (GRCm39) |
S350P |
probably benign |
Het |
Mfsd4a |
T |
C |
1: 131,974,049 (GRCm39) |
Y343C |
probably damaging |
Het |
Mrpl58 |
C |
A |
11: 115,301,555 (GRCm39) |
|
probably benign |
Het |
Myo7b |
A |
G |
18: 32,134,394 (GRCm39) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,339,880 (GRCm39) |
|
probably benign |
Het |
Nisch |
A |
G |
14: 30,898,696 (GRCm39) |
|
probably benign |
Het |
Or1o2 |
A |
T |
17: 37,542,439 (GRCm39) |
V274D |
probably damaging |
Het |
Or52z14 |
T |
C |
7: 103,253,182 (GRCm39) |
F107S |
probably damaging |
Het |
Or5p69 |
A |
G |
7: 107,967,368 (GRCm39) |
I224V |
probably damaging |
Het |
Parva |
T |
A |
7: 112,187,760 (GRCm39) |
C352* |
probably null |
Het |
Ptf1a |
T |
A |
2: 19,451,431 (GRCm39) |
C254S |
possibly damaging |
Het |
R3hdm1 |
G |
T |
1: 128,164,272 (GRCm39) |
R1062L |
probably benign |
Het |
Rnf44 |
A |
G |
13: 54,829,763 (GRCm39) |
V407A |
probably damaging |
Het |
Shank3 |
T |
C |
15: 89,434,049 (GRCm39) |
L1598P |
probably damaging |
Het |
Slit2 |
T |
C |
5: 48,395,747 (GRCm39) |
S717P |
possibly damaging |
Het |
Tdpoz4 |
A |
G |
3: 93,704,779 (GRCm39) |
K359E |
probably damaging |
Het |
Tmtc4 |
A |
T |
14: 123,165,047 (GRCm39) |
L604* |
probably null |
Het |
Tnfrsf21 |
A |
T |
17: 43,376,078 (GRCm39) |
N488I |
probably benign |
Het |
Tnfsf8 |
A |
G |
4: 63,752,747 (GRCm39) |
|
probably benign |
Het |
Tnpo3 |
A |
T |
6: 29,575,019 (GRCm39) |
L382M |
probably benign |
Het |
Tut1 |
T |
C |
19: 8,931,355 (GRCm39) |
C18R |
probably damaging |
Het |
Ugt8a |
A |
G |
3: 125,708,424 (GRCm39) |
S229P |
probably benign |
Het |
Usp22 |
T |
C |
11: 61,046,114 (GRCm39) |
E476G |
probably damaging |
Het |
Vill |
G |
T |
9: 118,895,877 (GRCm39) |
A146S |
probably damaging |
Het |
Vmn1r178 |
T |
C |
7: 23,593,362 (GRCm39) |
Y137H |
probably damaging |
Het |
Wdfy1 |
A |
T |
1: 79,717,833 (GRCm39) |
W51R |
probably damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,296,768 (GRCm39) |
|
probably null |
Het |
Zfp236 |
A |
T |
18: 82,651,245 (GRCm39) |
V889E |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,486,277 (GRCm39) |
D141G |
possibly 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 |
IGL01781:Atp6v0a4
|
APN |
6 |
38,051,095 (GRCm39) |
missense |
possibly damaging |
0.91 |
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 |
2014-05-07 |