Incidental Mutation 'R5437:Atp6v0a4'
| ID |
428418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp6v0a4
|
| Ensembl Gene |
ENSMUSG00000038600 |
| Gene Name |
ATPase, H+ transporting, lysosomal V0 subunit A4 |
| Synonyms |
Atp6n1b, V-ATPase alpha 4 |
| MMRRC Submission |
043002-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5437 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
38025418-38101521 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38053668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 378
(N378I)
|
| 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: N378I
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: N378I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
824 |
3.5e-293 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114908
AA Change: N378I
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: N378I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144752
|
| Meta Mutation Damage Score |
0.2101 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (63/65) |
| 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 |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Acaca |
G |
A |
11: 84,237,646 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
C |
A |
7: 119,377,720 (GRCm39) |
|
probably benign |
Het |
| Aoc1 |
C |
A |
6: 48,884,684 (GRCm39) |
Q576K |
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,255,730 (GRCm39) |
H871L |
probably damaging |
Het |
| Clic4 |
C |
G |
4: 134,944,557 (GRCm39) |
R206P |
probably damaging |
Het |
| Commd9 |
G |
A |
2: 101,731,373 (GRCm39) |
G186D |
probably damaging |
Het |
| Cpne9 |
C |
T |
6: 113,281,591 (GRCm39) |
|
probably benign |
Het |
| Crhr2 |
C |
T |
6: 55,077,718 (GRCm39) |
V196I |
probably damaging |
Het |
| Dctn5 |
T |
A |
7: 121,732,552 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
C |
T |
2: 5,928,930 (GRCm39) |
R247Q |
probably benign |
Het |
| Dmrta1 |
G |
A |
4: 89,579,993 (GRCm39) |
G318R |
possibly damaging |
Het |
| Dpp6 |
T |
A |
5: 27,868,499 (GRCm39) |
Y487* |
probably null |
Het |
| Eef1akmt3 |
A |
T |
10: 126,869,116 (GRCm39) |
N119K |
probably damaging |
Het |
| Eloa |
A |
T |
4: 135,740,196 (GRCm39) |
L75Q |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,996,604 (GRCm39) |
T1202M |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,913,982 (GRCm39) |
I205T |
possibly damaging |
Het |
| Fkbp10 |
A |
C |
11: 100,311,849 (GRCm39) |
D174A |
probably damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,014,652 (GRCm39) |
F274L |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,266,540 (GRCm39) |
C969S |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,551,450 (GRCm39) |
E130G |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,615,479 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
C |
T |
14: 65,043,563 (GRCm39) |
R1788C |
probably damaging |
Het |
| Kif3a |
C |
T |
11: 53,489,553 (GRCm39) |
S135F |
probably damaging |
Het |
| Klf5 |
C |
T |
14: 99,538,895 (GRCm39) |
R23* |
probably null |
Het |
| Lcn5 |
A |
G |
2: 25,548,023 (GRCm39) |
I11V |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,458,930 (GRCm39) |
|
probably null |
Het |
| Mroh5 |
T |
C |
15: 73,659,818 (GRCm39) |
I338V |
probably benign |
Het |
| Mthfd2l |
A |
G |
5: 91,096,757 (GRCm39) |
N126S |
possibly damaging |
Het |
| Myo18b |
G |
T |
5: 112,905,439 (GRCm39) |
A2053E |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,439,812 (GRCm39) |
C318* |
probably null |
Het |
| Ndufs7 |
C |
T |
10: 80,090,758 (GRCm39) |
R116C |
possibly damaging |
Het |
| Odr4 |
T |
G |
1: 150,239,269 (GRCm39) |
I385L |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,859,935 (GRCm39) |
M30T |
probably benign |
Het |
| Pnkd |
T |
C |
1: 74,388,896 (GRCm39) |
V214A |
possibly damaging |
Het |
| Popdc2 |
T |
G |
16: 38,183,263 (GRCm39) |
V82G |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,587,739 (GRCm39) |
L2541F |
possibly damaging |
Het |
| Ptpn9 |
A |
T |
9: 56,927,321 (GRCm39) |
H66L |
possibly damaging |
Het |
| Pygm |
T |
A |
19: 6,440,412 (GRCm39) |
N397K |
probably damaging |
Het |
| Rabgap1l |
T |
A |
1: 160,549,717 (GRCm39) |
E324D |
probably damaging |
Het |
| Rnf6 |
G |
A |
5: 146,147,090 (GRCm39) |
R643C |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,670,599 (GRCm39) |
V3466M |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,506,690 (GRCm39) |
Y1400H |
probably damaging |
Het |
| Septin10 |
T |
A |
10: 59,012,781 (GRCm39) |
N279I |
probably damaging |
Het |
| Sh3rf2 |
A |
T |
18: 42,274,079 (GRCm39) |
Y415F |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,241,040 (GRCm39) |
T449A |
probably benign |
Het |
| Tcam1 |
C |
T |
11: 106,176,249 (GRCm39) |
T325M |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,396,942 (GRCm39) |
I147T |
probably benign |
Het |
| Tet1 |
G |
T |
10: 62,650,230 (GRCm39) |
H30Q |
probably benign |
Het |
| Tmem109 |
A |
G |
19: 10,849,378 (GRCm39) |
I159T |
probably damaging |
Het |
| Tmem40 |
C |
T |
6: 115,735,992 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,348,753 (GRCm39) |
P122S |
possibly damaging |
Het |
| Uaca |
A |
G |
9: 60,778,733 (GRCm39) |
D1038G |
probably benign |
Het |
| Ubr2 |
C |
G |
17: 47,274,623 (GRCm39) |
E852D |
probably benign |
Het |
| Ubr3 |
A |
T |
2: 69,774,734 (GRCm39) |
N518I |
probably damaging |
Het |
| Unc80 |
T |
G |
1: 66,693,737 (GRCm39) |
L2596R |
possibly damaging |
Het |
| Zcchc3 |
G |
A |
2: 152,256,652 (GRCm39) |
P16S |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCATTTACAAAAGACAATACGGG -3'
(R):5'- CATAGTTCTCTGGGAGGTCAGG -3'
Sequencing Primer
(F):5'- GAAATTAAATGAGTCGTCGAGTGTC -3'
(R):5'- TCAGGAGATGACCCAAGTTCATGTC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation