Incidental Mutation 'IGL01593:Atp6v0d2'
| ID |
91660 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp6v0d2
|
| Ensembl Gene |
ENSMUSG00000028238 |
| Gene Name |
ATPase, H+ transporting, lysosomal V0 subunit D2 |
| Synonyms |
1620401A02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01593
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
19876838-19922566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 19881436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 219
(R219L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029900]
|
| AlphaFold |
Q80SY3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029900
AA Change: R219L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029900
Gene: ENSMUSG00000028238
AA Change: R219L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:vATP-synt_AC39
|
16 |
346 |
6.2e-113 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display osteopetrosis and impaired osteoclast maturation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,284,279 (GRCm39) |
I310N |
probably damaging |
Het |
| Abtb3 |
T |
A |
10: 85,490,339 (GRCm39) |
|
probably benign |
Het |
| Ackr4 |
C |
T |
9: 103,963,130 (GRCm39) |
|
probably benign |
Het |
| Ankib1 |
A |
T |
5: 3,782,590 (GRCm39) |
D346E |
probably benign |
Het |
| Asap2 |
G |
T |
12: 21,263,203 (GRCm39) |
A273S |
probably null |
Het |
| Atp6v1e2 |
A |
T |
17: 87,251,727 (GRCm39) |
F224I |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,194,478 (GRCm39) |
|
probably null |
Het |
| Cd33 |
A |
G |
7: 43,179,705 (GRCm39) |
L241P |
possibly damaging |
Het |
| Clec4g |
A |
T |
8: 3,769,474 (GRCm39) |
|
probably null |
Het |
| Dym |
C |
T |
18: 75,247,852 (GRCm39) |
|
probably benign |
Het |
| Enpp5 |
A |
G |
17: 44,391,612 (GRCm39) |
T14A |
probably benign |
Het |
| Ggt1 |
T |
C |
10: 75,421,121 (GRCm39) |
|
probably null |
Het |
| Gm17541 |
T |
A |
12: 4,739,868 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
A |
T |
1: 125,605,188 (GRCm39) |
I39F |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,948,127 (GRCm39) |
F240L |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,788,766 (GRCm39) |
V400E |
probably damaging |
Het |
| Klhdc7a |
A |
G |
4: 139,694,125 (GRCm39) |
I274T |
probably damaging |
Het |
| Lrwd1 |
A |
T |
5: 136,163,483 (GRCm39) |
L71Q |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,528,723 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
A |
T |
2: 80,350,914 (GRCm39) |
M725K |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,127,345 (GRCm39) |
K956R |
probably benign |
Het |
| Or2b7 |
T |
A |
13: 21,739,389 (GRCm39) |
I268F |
probably damaging |
Het |
| Pole2 |
C |
T |
12: 69,269,873 (GRCm39) |
|
probably null |
Het |
| Prss32 |
A |
G |
17: 24,074,982 (GRCm39) |
T111A |
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,139,875 (GRCm39) |
|
probably benign |
Het |
| Slc2a4 |
A |
G |
11: 69,835,654 (GRCm39) |
C361R |
probably damaging |
Het |
| Ston1 |
G |
A |
17: 88,944,438 (GRCm39) |
G615R |
probably null |
Het |
| Tas2r139 |
T |
G |
6: 42,117,891 (GRCm39) |
W8G |
probably benign |
Het |
| Tmem101 |
A |
T |
11: 102,046,704 (GRCm39) |
L55Q |
probably damaging |
Het |
| Tnni3k |
T |
C |
3: 154,646,666 (GRCm39) |
|
probably null |
Het |
| Uba2 |
A |
G |
7: 33,845,689 (GRCm39) |
V478A |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,739,545 (GRCm39) |
D52G |
probably damaging |
Het |
|
| Other mutations in Atp6v0d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01759:Atp6v0d2
|
APN |
4 |
19,878,335 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02006:Atp6v0d2
|
APN |
4 |
19,878,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02515:Atp6v0d2
|
APN |
4 |
19,880,063 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03100:Atp6v0d2
|
APN |
4 |
19,910,586 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02796:Atp6v0d2
|
UTSW |
4 |
19,887,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0083:Atp6v0d2
|
UTSW |
4 |
19,880,001 (GRCm39) |
splice site |
probably benign |
|
|
R0133:Atp6v0d2
|
UTSW |
4 |
19,910,578 (GRCm39) |
splice site |
probably benign |
|
|
R0371:Atp6v0d2
|
UTSW |
4 |
19,880,033 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0845:Atp6v0d2
|
UTSW |
4 |
19,880,055 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1279:Atp6v0d2
|
UTSW |
4 |
19,878,298 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1541:Atp6v0d2
|
UTSW |
4 |
19,910,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1802:Atp6v0d2
|
UTSW |
4 |
19,922,366 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3417:Atp6v0d2
|
UTSW |
4 |
19,888,829 (GRCm39) |
unclassified |
probably benign |
|
|
R3833:Atp6v0d2
|
UTSW |
4 |
19,922,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3884:Atp6v0d2
|
UTSW |
4 |
19,910,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5158:Atp6v0d2
|
UTSW |
4 |
19,878,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6284:Atp6v0d2
|
UTSW |
4 |
19,922,605 (GRCm39) |
splice site |
probably null |
|
|
R7290:Atp6v0d2
|
UTSW |
4 |
19,880,060 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7341:Atp6v0d2
|
UTSW |
4 |
19,887,330 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7832:Atp6v0d2
|
UTSW |
4 |
19,922,400 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8231:Atp6v0d2
|
UTSW |
4 |
19,881,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8757:Atp6v0d2
|
UTSW |
4 |
19,910,649 (GRCm39) |
missense |
probably benign |
|
|
R8759:Atp6v0d2
|
UTSW |
4 |
19,910,649 (GRCm39) |
missense |
probably benign |
|
|
R8811:Atp6v0d2
|
UTSW |
4 |
19,922,397 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9227:Atp6v0d2
|
UTSW |
4 |
19,878,374 (GRCm39) |
missense |
probably benign |
|
|
R9334:Atp6v0d2
|
UTSW |
4 |
19,890,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Atp6v0d2
|
UTSW |
4 |
19,922,377 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9716:Atp6v0d2
|
UTSW |
4 |
19,890,834 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation