Incidental Mutation 'R4130:Pdzd9'
ID |
315506 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdzd9
|
Ensembl Gene |
ENSMUSG00000030887 |
Gene Name |
PDZ domain containing 9 |
Synonyms |
4930408O21Rik |
MMRRC Submission |
041636-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R4130 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
120257954-120269566 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120262092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 123
(D123E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033176]
[ENSMUST00000033178]
[ENSMUST00000127845]
[ENSMUST00000208635]
|
AlphaFold |
Q9D9M4 |
PDB Structure |
The solution structure of RSGI RUH-020, a PDZ domain of hypothetical protein from mouse [SOLUTION NMR]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000033176
|
SMART Domains |
Protein: ENSMUSP00000033176 Gene: ENSMUSG00000030884
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M16
|
48 |
194 |
3.2e-33 |
PFAM |
Pfam:Peptidase_M16_C
|
199 |
378 |
2.2e-26 |
PFAM |
low complexity region
|
417 |
430 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033178
AA Change: D123E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000033178 Gene: ENSMUSG00000030887 AA Change: D123E
Domain | Start | End | E-Value | Type |
PDZ
|
38 |
111 |
2.97e-8 |
SMART |
low complexity region
|
231 |
243 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127845
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208635
|
Meta Mutation Damage Score |
0.1210 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (29/29) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700021A07Rik |
T |
C |
10: 21,301,441 (GRCm39) |
|
noncoding transcript |
Het |
A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
Bbx |
T |
C |
16: 50,045,221 (GRCm39) |
K447E |
probably damaging |
Het |
Bcar1 |
A |
G |
8: 112,440,797 (GRCm39) |
L399P |
possibly damaging |
Het |
Cytl1 |
T |
C |
5: 37,892,985 (GRCm39) |
S32P |
probably damaging |
Het |
Eif4e1b |
C |
T |
13: 54,935,130 (GRCm39) |
T219M |
probably benign |
Het |
F10 |
A |
G |
8: 13,105,584 (GRCm39) |
D383G |
possibly damaging |
Het |
Gm37267 |
T |
G |
1: 180,336,643 (GRCm39) |
|
noncoding transcript |
Het |
Golga2 |
G |
A |
2: 32,178,178 (GRCm39) |
R29H |
probably benign |
Het |
Gpd1 |
A |
T |
15: 99,617,158 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
G |
A |
15: 91,639,997 (GRCm39) |
R1514Q |
probably benign |
Het |
Map1b |
T |
C |
13: 99,568,188 (GRCm39) |
E1511G |
unknown |
Het |
Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
Or13n4 |
C |
T |
7: 106,422,792 (GRCm39) |
G314S |
probably benign |
Het |
Pramel29 |
T |
A |
4: 143,935,379 (GRCm39) |
I121F |
probably damaging |
Het |
Rab3gap2 |
A |
G |
1: 184,936,494 (GRCm39) |
D19G |
possibly damaging |
Het |
Rnf213 |
T |
C |
11: 119,373,832 (GRCm39) |
S4972P |
probably damaging |
Het |
Skap1 |
A |
G |
11: 96,416,871 (GRCm39) |
Y52C |
probably damaging |
Het |
Sphkap |
T |
C |
1: 83,255,619 (GRCm39) |
N710S |
probably damaging |
Het |
Tedc1 |
T |
A |
12: 113,126,828 (GRCm39) |
D363E |
probably benign |
Het |
Vmn2r44 |
T |
A |
7: 8,370,918 (GRCm39) |
Q709H |
probably damaging |
Het |
Wdr5 |
G |
T |
2: 27,410,441 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pdzd9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01284:Pdzd9
|
APN |
7 |
120,259,494 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01295:Pdzd9
|
APN |
7 |
120,267,618 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02252:Pdzd9
|
APN |
7 |
120,262,238 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02393:Pdzd9
|
APN |
7 |
120,262,206 (GRCm39) |
nonsense |
probably null |
|
R0826:Pdzd9
|
UTSW |
7 |
120,267,624 (GRCm39) |
missense |
probably damaging |
0.99 |
R4131:Pdzd9
|
UTSW |
7 |
120,262,092 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4820:Pdzd9
|
UTSW |
7 |
120,267,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R4915:Pdzd9
|
UTSW |
7 |
120,269,391 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5883:Pdzd9
|
UTSW |
7 |
120,267,776 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6283:Pdzd9
|
UTSW |
7 |
120,259,449 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6896:Pdzd9
|
UTSW |
7 |
120,262,095 (GRCm39) |
makesense |
probably null |
|
R7017:Pdzd9
|
UTSW |
7 |
120,262,225 (GRCm39) |
missense |
probably benign |
0.23 |
R9054:Pdzd9
|
UTSW |
7 |
120,269,498 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CGTCCTGCAGAATGTCCTTTG -3'
(R):5'- GATCAGTACAGCTCTTTTCAAGCC -3'
Sequencing Primer
(F):5'- CCTGCAGAATGTCCTTTGTAGAAG -3'
(R):5'- ACAGCTCTTTTCAAGCCATTATTTC -3'
|
Posted On |
2015-05-14 |