Incidental Mutation 'IGL03198:Atp6v0a2'
ID |
412908 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atp6v0a2
|
Ensembl Gene |
ENSMUSG00000038023 |
Gene Name |
ATPase, H+ transporting, lysosomal V0 subunit A2 |
Synonyms |
Tj6, ATP6a2, Atp6n2, 8430408C20Rik, V-ATPase a2, TJ6s |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
IGL03198
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
124767117-124801519 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 124789425 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039737
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037865]
[ENSMUST00000198382]
|
AlphaFold |
P15920 |
PDB Structure |
NMR solution structure of peptide a2N(1-17) from Mus musculus V-ATPase [SOLUTION NMR]
|
Predicted Effect |
probably null
Transcript: ENSMUST00000037865
|
SMART Domains |
Protein: ENSMUSP00000039737 Gene: ENSMUSG00000038023
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
27 |
842 |
3.3e-299 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158025
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197087
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198382
|
SMART Domains |
Protein: ENSMUSP00000143284 Gene: ENSMUSG00000038023
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:V_ATPase_I
|
26 |
178 |
1.5e-36 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199526
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a subunit of vacuolar ATPase, a multimeric enzyme that localizes to intracellular vesicles and to the plasma membrane of specialized cells. The encoded protein is a component of the V(0) domain, which functions in proton translocation across membranes. Function of this gene is important in fetal-specific immune suppression during pregnancy. [provided by RefSeq, May 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adhfe1 |
A |
T |
1: 9,620,177 (GRCm39) |
|
probably benign |
Het |
Brca1 |
G |
T |
11: 101,403,537 (GRCm39) |
|
probably benign |
Het |
Cd55 |
A |
T |
1: 130,368,108 (GRCm39) |
C372S |
probably benign |
Het |
Clip2 |
A |
T |
5: 134,526,936 (GRCm39) |
|
probably benign |
Het |
Dgkb |
A |
G |
12: 38,186,615 (GRCm39) |
N262D |
probably damaging |
Het |
Fam227b |
C |
T |
2: 125,966,499 (GRCm39) |
|
probably null |
Het |
Foxj2 |
G |
A |
6: 122,809,966 (GRCm39) |
|
probably null |
Het |
Gm4297 |
T |
A |
X: 24,418,810 (GRCm39) |
|
probably benign |
Het |
Grik3 |
A |
G |
4: 125,553,555 (GRCm39) |
D429G |
probably benign |
Het |
Hcfc1 |
T |
C |
X: 72,994,935 (GRCm39) |
I924V |
possibly damaging |
Het |
Lrrk1 |
A |
G |
7: 65,956,642 (GRCm39) |
V411A |
probably damaging |
Het |
Mdh1 |
A |
T |
11: 21,514,168 (GRCm39) |
V83E |
probably damaging |
Het |
Pa2g4 |
A |
G |
10: 128,401,647 (GRCm39) |
V17A |
probably damaging |
Het |
Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
Polg |
A |
G |
7: 79,101,470 (GRCm39) |
V1079A |
probably damaging |
Het |
Polr2a |
G |
T |
11: 69,638,107 (GRCm39) |
|
probably null |
Het |
Ptk2 |
C |
T |
15: 73,108,065 (GRCm39) |
S722N |
probably damaging |
Het |
Rock2 |
A |
G |
12: 17,025,508 (GRCm39) |
D1243G |
probably benign |
Het |
Sirt4 |
T |
C |
5: 115,621,061 (GRCm39) |
D37G |
probably benign |
Het |
Slc35d1 |
T |
C |
4: 103,042,085 (GRCm39) |
Y249C |
probably damaging |
Het |
Snrnp27 |
A |
T |
6: 86,659,968 (GRCm39) |
|
probably null |
Het |
Srek1 |
T |
C |
13: 103,881,443 (GRCm39) |
|
probably null |
Het |
Sspo |
A |
T |
6: 48,454,516 (GRCm39) |
I2951F |
probably benign |
Het |
Stxbp3 |
A |
G |
3: 108,734,405 (GRCm39) |
F40L |
probably damaging |
Het |
Sympk |
T |
C |
7: 18,778,921 (GRCm39) |
V604A |
possibly damaging |
Het |
Tbc1d2b |
T |
C |
9: 90,104,510 (GRCm39) |
Y544C |
probably damaging |
Het |
Tnpo2 |
C |
T |
8: 85,778,347 (GRCm39) |
T592I |
possibly damaging |
Het |
Txndc16 |
T |
C |
14: 45,388,941 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
A |
T |
15: 38,045,964 (GRCm39) |
L120Q |
probably damaging |
Het |
Wdfy4 |
A |
T |
14: 32,847,844 (GRCm39) |
M836K |
probably damaging |
Het |
Wdr48 |
A |
G |
9: 119,741,479 (GRCm39) |
N141S |
probably benign |
Het |
Zc3h7a |
A |
T |
16: 10,980,528 (GRCm39) |
Y28* |
probably null |
Het |
Zfp423 |
T |
C |
8: 88,508,304 (GRCm39) |
D659G |
possibly damaging |
Het |
|
Other mutations in Atp6v0a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Atp6v0a2
|
APN |
5 |
124,798,841 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01310:Atp6v0a2
|
APN |
5 |
124,783,968 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01944:Atp6v0a2
|
APN |
5 |
124,774,043 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02044:Atp6v0a2
|
APN |
5 |
124,783,954 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02400:Atp6v0a2
|
APN |
5 |
124,798,849 (GRCm39) |
missense |
probably benign |
|
IGL02650:Atp6v0a2
|
APN |
5 |
124,789,426 (GRCm39) |
splice site |
probably benign |
|
IGL02687:Atp6v0a2
|
APN |
5 |
124,791,206 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02965:Atp6v0a2
|
APN |
5 |
124,767,267 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03049:Atp6v0a2
|
APN |
5 |
124,789,845 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03088:Atp6v0a2
|
APN |
5 |
124,791,171 (GRCm39) |
splice site |
probably benign |
|
alkaline
|
UTSW |
5 |
124,796,930 (GRCm39) |
missense |
probably damaging |
1.00 |
basic
|
UTSW |
5 |
124,789,392 (GRCm39) |
nonsense |
probably null |
|
electronegative
|
UTSW |
5 |
124,784,638 (GRCm39) |
missense |
probably damaging |
1.00 |
energizer
|
UTSW |
5 |
124,797,050 (GRCm39) |
missense |
probably damaging |
0.98 |
Everready
|
UTSW |
5 |
124,779,443 (GRCm39) |
missense |
probably damaging |
0.99 |
Lithium
|
UTSW |
5 |
124,791,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R0128:Atp6v0a2
|
UTSW |
5 |
124,790,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R0594:Atp6v0a2
|
UTSW |
5 |
124,795,046 (GRCm39) |
missense |
probably benign |
0.01 |
R1540:Atp6v0a2
|
UTSW |
5 |
124,784,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Atp6v0a2
|
UTSW |
5 |
124,795,552 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2921:Atp6v0a2
|
UTSW |
5 |
124,794,981 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2922:Atp6v0a2
|
UTSW |
5 |
124,794,981 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2923:Atp6v0a2
|
UTSW |
5 |
124,794,981 (GRCm39) |
missense |
possibly damaging |
0.80 |
R3055:Atp6v0a2
|
UTSW |
5 |
124,765,209 (GRCm39) |
unclassified |
probably benign |
|
R3889:Atp6v0a2
|
UTSW |
5 |
124,777,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R3893:Atp6v0a2
|
UTSW |
5 |
124,777,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R4013:Atp6v0a2
|
UTSW |
5 |
124,789,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R4490:Atp6v0a2
|
UTSW |
5 |
124,784,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Atp6v0a2
|
UTSW |
5 |
124,784,667 (GRCm39) |
missense |
probably benign |
0.17 |
R5219:Atp6v0a2
|
UTSW |
5 |
124,790,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R5247:Atp6v0a2
|
UTSW |
5 |
124,790,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R5293:Atp6v0a2
|
UTSW |
5 |
124,784,649 (GRCm39) |
missense |
probably benign |
0.00 |
R5620:Atp6v0a2
|
UTSW |
5 |
124,783,909 (GRCm39) |
nonsense |
probably null |
|
R5830:Atp6v0a2
|
UTSW |
5 |
124,779,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R5875:Atp6v0a2
|
UTSW |
5 |
124,793,391 (GRCm39) |
missense |
probably benign |
|
R5903:Atp6v0a2
|
UTSW |
5 |
124,789,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R6192:Atp6v0a2
|
UTSW |
5 |
124,767,268 (GRCm39) |
missense |
probably benign |
0.01 |
R6425:Atp6v0a2
|
UTSW |
5 |
124,790,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R6752:Atp6v0a2
|
UTSW |
5 |
124,779,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R6919:Atp6v0a2
|
UTSW |
5 |
124,789,225 (GRCm39) |
splice site |
probably null |
|
R6994:Atp6v0a2
|
UTSW |
5 |
124,791,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R7053:Atp6v0a2
|
UTSW |
5 |
124,783,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R7268:Atp6v0a2
|
UTSW |
5 |
124,796,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R7342:Atp6v0a2
|
UTSW |
5 |
124,784,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R7349:Atp6v0a2
|
UTSW |
5 |
124,789,392 (GRCm39) |
nonsense |
probably null |
|
R7714:Atp6v0a2
|
UTSW |
5 |
124,775,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R7715:Atp6v0a2
|
UTSW |
5 |
124,791,262 (GRCm39) |
missense |
probably damaging |
0.99 |
R7748:Atp6v0a2
|
UTSW |
5 |
124,793,560 (GRCm39) |
missense |
probably benign |
0.00 |
R7775:Atp6v0a2
|
UTSW |
5 |
124,779,443 (GRCm39) |
missense |
probably damaging |
0.99 |
R7778:Atp6v0a2
|
UTSW |
5 |
124,779,443 (GRCm39) |
missense |
probably damaging |
0.99 |
R7824:Atp6v0a2
|
UTSW |
5 |
124,779,443 (GRCm39) |
missense |
probably damaging |
0.99 |
R7833:Atp6v0a2
|
UTSW |
5 |
124,782,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R7901:Atp6v0a2
|
UTSW |
5 |
124,779,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R7977:Atp6v0a2
|
UTSW |
5 |
124,797,050 (GRCm39) |
missense |
probably damaging |
0.98 |
R7987:Atp6v0a2
|
UTSW |
5 |
124,797,050 (GRCm39) |
missense |
probably damaging |
0.98 |
R8118:Atp6v0a2
|
UTSW |
5 |
124,789,837 (GRCm39) |
missense |
probably damaging |
0.98 |
R8728:Atp6v0a2
|
UTSW |
5 |
124,796,152 (GRCm39) |
missense |
probably benign |
0.00 |
R8765:Atp6v0a2
|
UTSW |
5 |
124,793,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R8945:Atp6v0a2
|
UTSW |
5 |
124,784,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R8971:Atp6v0a2
|
UTSW |
5 |
124,797,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R9023:Atp6v0a2
|
UTSW |
5 |
124,796,138 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9300:Atp6v0a2
|
UTSW |
5 |
124,789,312 (GRCm39) |
missense |
probably damaging |
0.98 |
R9360:Atp6v0a2
|
UTSW |
5 |
124,767,259 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9601:Atp6v0a2
|
UTSW |
5 |
124,790,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |