Incidental Mutation 'IGL01284:Pdzd9'
| ID |
72652 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdzd9
|
| Ensembl Gene |
ENSMUSG00000030887 |
| Gene Name |
PDZ domain containing 9 |
| Synonyms |
4930408O21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL01284
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
120257954-120269566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 120259494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 165
(Y165D)
|
| 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: Y165D
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033178
Gene: ENSMUSG00000030887
AA Change: Y165D
| 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 |
noncoding transcript
Transcript: ENSMUST00000131191
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208635
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
A |
T |
6: 86,827,035 (GRCm39) |
M1L |
possibly damaging |
Het |
| Agr2 |
A |
G |
12: 36,045,580 (GRCm39) |
D22G |
possibly damaging |
Het |
| C9orf72 |
A |
T |
4: 35,218,808 (GRCm39) |
I17N |
probably damaging |
Het |
| Cck |
G |
T |
9: 121,319,236 (GRCm39) |
N82K |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,301,876 (GRCm39) |
I402N |
possibly damaging |
Het |
| Cfap157 |
T |
C |
2: 32,671,491 (GRCm39) |
D105G |
possibly damaging |
Het |
| Dhx9 |
C |
A |
1: 153,340,644 (GRCm39) |
L665F |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,196,265 (GRCm39) |
E1621G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,203,009 (GRCm39) |
Y713C |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 62,988,099 (GRCm39) |
S271G |
probably benign |
Het |
| Gp5 |
G |
T |
16: 30,128,028 (GRCm39) |
S215R |
probably benign |
Het |
| Kpnb1 |
A |
G |
11: 97,056,928 (GRCm39) |
M647T |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,698,464 (GRCm39) |
E515G |
probably damaging |
Het |
| Mfge8 |
A |
G |
7: 78,786,530 (GRCm39) |
S290P |
probably damaging |
Het |
| Negr1 |
C |
T |
3: 156,851,854 (GRCm39) |
P219S |
probably damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,326 (GRCm39) |
S26P |
probably benign |
Het |
| Or10a49 |
C |
T |
7: 108,467,482 (GRCm39) |
R293K |
possibly damaging |
Het |
| Pik3ca |
C |
T |
3: 32,516,733 (GRCm39) |
A987V |
probably damaging |
Het |
| Pomp |
T |
A |
5: 147,797,491 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
G |
5: 28,615,707 (GRCm39) |
T17A |
probably damaging |
Het |
| Skic2 |
T |
C |
17: 35,058,664 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
G |
A |
5: 89,277,532 (GRCm39) |
A334T |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,256,916 (GRCm39) |
F1587L |
probably damaging |
Het |
| Tex29 |
C |
A |
8: 11,894,231 (GRCm39) |
Y46* |
probably null |
Het |
| Tgm5 |
A |
G |
2: 120,883,028 (GRCm39) |
S410P |
possibly damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,107,372 (GRCm39) |
Y714H |
possibly damaging |
Het |
| Tubgcp6 |
C |
T |
15: 88,994,258 (GRCm39) |
R468Q |
probably damaging |
Het |
|
| Other mutations in Pdzd9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4130:Pdzd9
|
UTSW |
7 |
120,262,092 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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 |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation