Incidental Mutation 'R1279:Atp6v0d2'
| ID |
150967 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp6v0d2
|
| Ensembl Gene |
ENSMUSG00000028238 |
| Gene Name |
ATPase, H+ transporting, lysosomal V0 subunit D2 |
| Synonyms |
1620401A02Rik |
| MMRRC Submission |
039345-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1279 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
19876838-19922566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19878298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 325
(M325K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029900]
|
| AlphaFold |
Q80SY3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029900
AA Change: M325K
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000029900
Gene: ENSMUSG00000028238
AA Change: M325K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:vATP-synt_AC39
|
16 |
346 |
6.2e-113 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.2%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm17305 |
TCTCCTCCTCCTCCTCCTCCTC |
TCTCCTCCTCCTCCTCCTC |
11: 69,260,175 (GRCm39) |
|
probably benign |
Het |
| Mfap5 |
A |
G |
6: 122,503,722 (GRCm39) |
|
probably null |
Het |
| Nrcam |
T |
C |
12: 44,591,660 (GRCm39) |
|
probably null |
Het |
| Oas1a |
A |
G |
5: 121,035,241 (GRCm39) |
|
probably null |
Het |
| Oat |
A |
T |
7: 132,168,809 (GRCm39) |
L137H |
probably damaging |
Het |
| Or10h5 |
T |
C |
17: 33,435,300 (GRCm39) |
Y6C |
possibly damaging |
Het |
| Or2n1c |
A |
G |
17: 38,519,678 (GRCm39) |
I181V |
probably benign |
Het |
| Or5h17 |
G |
A |
16: 58,820,501 (GRCm39) |
G151D |
possibly damaging |
Het |
| Padi3 |
T |
C |
4: 140,530,888 (GRCm39) |
S45G |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,799,427 (GRCm39) |
S488P |
probably damaging |
Het |
| Plxnb2 |
G |
A |
15: 89,046,524 (GRCm39) |
T873I |
probably benign |
Het |
| Ppp4r2 |
A |
T |
6: 100,842,879 (GRCm39) |
R176* |
probably null |
Het |
| Pramel51 |
C |
T |
12: 88,142,650 (GRCm39) |
V323M |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,508,146 (GRCm39) |
L932F |
probably damaging |
Het |
| Ros1 |
C |
A |
10: 52,018,262 (GRCm39) |
A799S |
possibly damaging |
Het |
| Scn4a |
A |
T |
11: 106,226,508 (GRCm39) |
I684N |
probably damaging |
Het |
| Sypl2 |
A |
G |
3: 108,124,990 (GRCm39) |
F124L |
probably damaging |
Het |
| Tacr1 |
G |
T |
6: 82,534,164 (GRCm39) |
E397* |
probably null |
Het |
| Vmn1r7 |
T |
C |
6: 57,001,934 (GRCm39) |
T109A |
possibly damaging |
Het |
| Zp1 |
A |
G |
19: 10,895,941 (GRCm39) |
S232P |
probably damaging |
Het |
|
| Other mutations in Atp6v0d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01593:Atp6v0d2
|
APN |
4 |
19,881,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGGCTTCCAGTGGACATGTAG -3'
(R):5'- GATGTGCTGAGTTGCCTCTGATCC -3'
Sequencing Primer
(F):5'- CCAGTGGACATGTAGTTTATGGAAAG -3'
(R):5'- GATCCCACTATTGGTCCAACTGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation