Incidental Mutation 'IGL03088:Atp6v0a2'
| ID |
418257 |
| 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 # |
IGL03088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
124767117-124801519 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 124791171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037865]
[ENSMUST00000197161]
[ENSMUST00000198382]
|
| AlphaFold |
P15920 |
| Predicted Effect |
probably benign
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: ENSMUST00000197161
|
| SMART Domains |
Protein: ENSMUSP00000143461
Gene: ENSMUSG00000038023
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
T |
G |
11: 58,184,210 (GRCm39) |
L299R |
unknown |
Het |
| Abca9 |
T |
G |
11: 110,035,087 (GRCm39) |
R693S |
probably benign |
Het |
| Adamts20 |
A |
T |
15: 94,227,795 (GRCm39) |
|
probably null |
Het |
| Afg1l |
T |
A |
10: 42,302,493 (GRCm39) |
D169V |
probably damaging |
Het |
| Agbl1 |
T |
A |
7: 76,369,890 (GRCm39) |
M663K |
probably benign |
Het |
| Angpt2 |
T |
A |
8: 18,791,039 (GRCm39) |
I86F |
probably benign |
Het |
| Ankrd2 |
G |
A |
19: 42,030,424 (GRCm39) |
E160K |
probably null |
Het |
| As3mt |
G |
T |
19: 46,696,233 (GRCm39) |
V14F |
probably damaging |
Het |
| Atp6v0d1 |
T |
A |
8: 106,257,591 (GRCm39) |
I113F |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,799,123 (GRCm39) |
I406T |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,801,881 (GRCm39) |
V59A |
possibly damaging |
Het |
| Brsk1 |
A |
G |
7: 4,713,453 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
A |
4: 11,810,473 (GRCm39) |
N721K |
probably damaging |
Het |
| Cercam |
A |
G |
2: 29,771,699 (GRCm39) |
|
probably benign |
Het |
| Clpb |
T |
A |
7: 101,434,656 (GRCm39) |
L484* |
probably null |
Het |
| Creb3l1 |
T |
A |
2: 91,825,739 (GRCm39) |
M127L |
probably benign |
Het |
| Cstdc1 |
A |
T |
2: 148,625,327 (GRCm39) |
H87L |
possibly damaging |
Het |
| Ctla2b |
A |
C |
13: 61,043,874 (GRCm39) |
D122E |
probably damaging |
Het |
| Cyb5rl |
C |
A |
4: 106,938,225 (GRCm39) |
Y12* |
probably null |
Het |
| Dennd5a |
T |
C |
7: 109,507,588 (GRCm39) |
Y800C |
probably damaging |
Het |
| Dmrt3 |
T |
G |
19: 25,600,411 (GRCm39) |
S419A |
probably benign |
Het |
| Elapor1 |
A |
G |
3: 108,443,674 (GRCm39) |
W31R |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,655,543 (GRCm39) |
V381A |
possibly damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,498 (GRCm39) |
H842L |
unknown |
Het |
| Fn1 |
A |
T |
1: 71,653,197 (GRCm39) |
|
probably null |
Het |
| Fos |
A |
C |
12: 85,522,630 (GRCm39) |
T181P |
possibly damaging |
Het |
| Fzd10 |
A |
G |
5: 128,679,669 (GRCm39) |
Y463C |
possibly damaging |
Het |
| Gprc5b |
T |
C |
7: 118,582,856 (GRCm39) |
M338V |
probably benign |
Het |
| Gsta4 |
T |
C |
9: 78,113,345 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
T |
A |
3: 107,893,362 (GRCm39) |
T34S |
probably benign |
Het |
| Haspin |
C |
T |
11: 73,027,451 (GRCm39) |
R546Q |
probably damaging |
Het |
| Itgad |
G |
A |
7: 127,802,204 (GRCm39) |
R958H |
probably benign |
Het |
| Kansl1l |
A |
T |
1: 66,774,884 (GRCm39) |
H647Q |
probably damaging |
Het |
| Kif5c |
A |
C |
2: 49,634,455 (GRCm39) |
R762S |
probably benign |
Het |
| Klf4 |
C |
A |
4: 55,530,758 (GRCm39) |
A68S |
possibly damaging |
Het |
| Klf4 |
A |
G |
4: 55,530,811 (GRCm39) |
L50P |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,504,802 (GRCm39) |
E3502G |
probably damaging |
Het |
| Krt8 |
A |
G |
15: 101,909,022 (GRCm39) |
I202T |
possibly damaging |
Het |
| Lmcd1 |
A |
T |
6: 112,287,649 (GRCm39) |
T112S |
probably damaging |
Het |
| Lpxn |
T |
C |
19: 12,810,575 (GRCm39) |
C340R |
probably damaging |
Het |
| Man2a2 |
C |
T |
7: 80,009,082 (GRCm39) |
V844M |
possibly damaging |
Het |
| Map10 |
G |
A |
8: 126,397,809 (GRCm39) |
E401K |
probably benign |
Het |
| Mark4 |
A |
T |
7: 19,185,509 (GRCm39) |
L75Q |
probably damaging |
Het |
| Mlf2 |
T |
G |
6: 124,910,945 (GRCm39) |
M81R |
probably damaging |
Het |
| Mup3 |
A |
G |
4: 62,005,079 (GRCm39) |
I67T |
probably damaging |
Het |
| Mycbpap |
T |
C |
11: 94,404,769 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,970,476 (GRCm39) |
V1185A |
probably benign |
Het |
| Ncoa7 |
C |
T |
10: 30,574,121 (GRCm39) |
|
probably null |
Het |
| Nos1 |
C |
A |
5: 118,005,323 (GRCm39) |
N14K |
probably damaging |
Het |
| Nova2 |
G |
T |
7: 18,684,494 (GRCm39) |
V116F |
unknown |
Het |
| Obox3 |
G |
A |
7: 15,360,927 (GRCm39) |
|
probably benign |
Het |
| Or10h1 |
A |
T |
17: 33,418,534 (GRCm39) |
T171S |
probably benign |
Het |
| Or2t46 |
T |
A |
11: 58,472,653 (GRCm39) |
|
probably benign |
Het |
| Or5v1 |
A |
G |
17: 37,809,539 (GRCm39) |
|
probably benign |
Het |
| Or8b50 |
A |
T |
9: 38,518,597 (GRCm39) |
S279C |
probably damaging |
Het |
| P2rx5 |
T |
A |
11: 73,056,446 (GRCm39) |
|
probably benign |
Het |
| Parvb |
T |
A |
15: 84,193,044 (GRCm39) |
|
probably benign |
Het |
| Popdc2 |
A |
T |
16: 38,194,184 (GRCm39) |
T202S |
probably damaging |
Het |
| Ppm1j |
T |
A |
3: 104,692,725 (GRCm39) |
Y411* |
probably null |
Het |
| Rapgefl1 |
C |
A |
11: 98,740,058 (GRCm39) |
L484M |
probably damaging |
Het |
| Septin14 |
A |
G |
5: 129,774,797 (GRCm39) |
|
probably benign |
Het |
| Slf1 |
A |
G |
13: 77,232,554 (GRCm39) |
C517R |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 178,921,898 (GRCm39) |
|
probably null |
Het |
| Snx9 |
A |
G |
17: 5,974,885 (GRCm39) |
T458A |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,661,598 (GRCm39) |
D514G |
possibly damaging |
Het |
| Tbc1d14 |
A |
G |
5: 36,682,308 (GRCm39) |
S311P |
probably damaging |
Het |
| Timd6 |
C |
A |
11: 46,475,244 (GRCm39) |
F146L |
probably benign |
Het |
| Tmem150c |
T |
G |
5: 100,234,076 (GRCm39) |
K91N |
probably damaging |
Het |
| Traf3 |
T |
A |
12: 111,228,277 (GRCm39) |
M471K |
probably damaging |
Het |
| Tubd1 |
G |
T |
11: 86,443,825 (GRCm39) |
G178C |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,157,262 (GRCm39) |
K847E |
possibly damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,301 (GRCm39) |
H225L |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,758,851 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
T |
G |
14: 70,918,702 (GRCm39) |
S710R |
probably benign |
Het |
| Zfp780b |
C |
T |
7: 27,662,417 (GRCm39) |
V713I |
possibly damaging |
Het |
| Zkscan17 |
A |
T |
11: 59,378,592 (GRCm39) |
I197N |
probably 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 |
|
IGL03198:Atp6v0a2
|
APN |
5 |
124,789,425 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
Incidental Mutation