Incidental Mutation 'R4174:Pde12'
| ID |
318243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde12
|
| Ensembl Gene |
ENSMUSG00000043702 |
| Gene Name |
phosphodiesterase 12 |
| Synonyms |
E430028B21Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4174 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
26381113-26390823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26390144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 188
(D188E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052932]
|
| AlphaFold |
Q3TIU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052932
AA Change: D188E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000059666
Gene: ENSMUSG00000043702
AA Change: D188E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
223 |
N/A |
INTRINSIC |
|
Pfam:Exo_endo_phos
|
297 |
598 |
1.2e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167376
|
| SMART Domains |
Protein: ENSMUSP00000127272
Gene: ENSMUSG00000021877
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
1 |
60 |
4.2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184349
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
T |
C |
1: 38,247,008 (GRCm39) |
H859R |
probably damaging |
Het |
| Agap2 |
T |
C |
10: 126,926,383 (GRCm39) |
V876A |
probably damaging |
Het |
| Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
| Cep70 |
T |
C |
9: 99,128,366 (GRCm39) |
|
probably benign |
Het |
| Ddx23 |
G |
A |
15: 98,556,132 (GRCm39) |
S62F |
unknown |
Het |
| Gabrp |
A |
G |
11: 33,518,092 (GRCm39) |
I72T |
probably damaging |
Het |
| Gpsm2 |
C |
T |
3: 108,609,825 (GRCm39) |
A102T |
probably damaging |
Het |
| Metap2 |
A |
G |
10: 93,715,427 (GRCm39) |
C112R |
possibly damaging |
Het |
| Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
| Or8b42 |
T |
A |
9: 38,342,316 (GRCm39) |
I246K |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,719,031 (GRCm39) |
|
probably null |
Het |
| Rreb1 |
T |
A |
13: 38,114,126 (GRCm39) |
L495Q |
possibly damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,821,410 (GRCm39) |
I275T |
probably damaging |
Het |
| Tas2r122 |
A |
G |
6: 132,688,839 (GRCm39) |
I18T |
probably damaging |
Het |
| Tdrkh |
A |
G |
3: 94,335,540 (GRCm39) |
T378A |
possibly damaging |
Het |
| Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
| Zglp1 |
A |
G |
9: 20,977,366 (GRCm39) |
F150L |
possibly damaging |
Het |
|
| Other mutations in Pde12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02085:Pde12
|
APN |
14 |
26,387,619 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02306:Pde12
|
APN |
14 |
26,389,533 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02630:Pde12
|
APN |
14 |
26,387,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Pde12
|
APN |
14 |
26,389,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03268:Pde12
|
APN |
14 |
26,389,614 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1727:Pde12
|
UTSW |
14 |
26,390,022 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2057:Pde12
|
UTSW |
14 |
26,390,035 (GRCm39) |
missense |
probably benign |
|
|
R2059:Pde12
|
UTSW |
14 |
26,390,035 (GRCm39) |
missense |
probably benign |
|
|
R2510:Pde12
|
UTSW |
14 |
26,386,681 (GRCm39) |
makesense |
probably null |
|
|
R5121:Pde12
|
UTSW |
14 |
26,390,577 (GRCm39) |
nonsense |
probably null |
|
|
R5190:Pde12
|
UTSW |
14 |
26,387,532 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5387:Pde12
|
UTSW |
14 |
26,387,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5847:Pde12
|
UTSW |
14 |
26,386,786 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5987:Pde12
|
UTSW |
14 |
26,390,253 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7495:Pde12
|
UTSW |
14 |
26,389,994 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8021:Pde12
|
UTSW |
14 |
26,386,854 (GRCm39) |
nonsense |
probably null |
|
|
R8865:Pde12
|
UTSW |
14 |
26,390,280 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8898:Pde12
|
UTSW |
14 |
26,390,577 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9300:Pde12
|
UTSW |
14 |
26,386,931 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9331:Pde12
|
UTSW |
14 |
26,389,828 (GRCm39) |
missense |
probably benign |
|
|
R9604:Pde12
|
UTSW |
14 |
26,390,008 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9739:Pde12
|
UTSW |
14 |
26,386,757 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGCCCGGTGTACAGTGAAG -3'
(R):5'- GGTGGTGAAGCTGTACTACC -3'
Sequencing Primer
(F):5'- TGTACAGTGAAGCCGGAGCC -3'
(R):5'- TGAAGCTGTACTACCGGGAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation