Incidental Mutation 'IGL03235:Wwtr1'
| ID |
414031 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wwtr1
|
| Ensembl Gene |
ENSMUSG00000027803 |
| Gene Name |
WW domain containing transcription regulator 1 |
| Synonyms |
TAZ, transcriptional coactivator with PDZ binding motif, 2610021I22Rik, 2310058J06Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.728)
|
| Stock # |
IGL03235
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
57363070-57483331 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 57384954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 255
(V255F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029380]
[ENSMUST00000120977]
|
| AlphaFold |
Q9EPK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029380
AA Change: V198F
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000029380
Gene: ENSMUSG00000027803
AA Change: V198F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
PDB:3KYS|D
|
14 |
93 |
3e-18 |
PDB |
|
low complexity region
|
94 |
113 |
N/A |
INTRINSIC |
|
WW
|
125 |
157 |
4.5e-11 |
SMART |
|
low complexity region
|
227 |
257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120977
AA Change: V255F
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113040
Gene: ENSMUSG00000027803
AA Change: V255F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
70 |
N/A |
INTRINSIC |
|
PDB:3KYS|D
|
71 |
150 |
5e-18 |
PDB |
|
low complexity region
|
151 |
170 |
N/A |
INTRINSIC |
|
WW
|
182 |
214 |
4.5e-11 |
SMART |
|
low complexity region
|
284 |
314 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a binding protein of the 14-3-3 family of proteins that regulate cell cycle progression, differentiation and apoptosis. The encoded protein is a transcriptional co-activator that binds to the PPXY motif present on transcription factors. The gene product contains a WW domain and, in the C-terminus, a conserved PDZ-binding motif. This gene is distinct from the gene encoding tafazzin. Both genes share the gene symbol Taz. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a null mutation display polycystic kidneys, elevated blood urea nitrogen, partial postnatal lethality, premature death, reduced litter sizes, and mildly reduced body size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2b1 |
A |
G |
11: 83,232,210 (GRCm39) |
N461S |
probably benign |
Het |
| Baz1a |
A |
T |
12: 54,945,320 (GRCm39) |
V1345E |
probably damaging |
Het |
| Ccdc60 |
T |
A |
5: 116,269,205 (GRCm39) |
M472L |
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,416,124 (GRCm39) |
R67K |
probably damaging |
Het |
| Cfap45 |
A |
T |
1: 172,366,060 (GRCm39) |
R304S |
possibly damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,776,172 (GRCm39) |
|
probably benign |
Het |
| Eefsec |
T |
C |
6: 88,353,357 (GRCm39) |
D104G |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,273,621 (GRCm39) |
S849G |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,938,992 (GRCm39) |
T30I |
possibly damaging |
Het |
| Glt28d2 |
A |
T |
3: 85,779,109 (GRCm39) |
H121Q |
possibly damaging |
Het |
| Hacl1 |
C |
T |
14: 31,352,995 (GRCm39) |
W106* |
probably null |
Het |
| Marchf6 |
A |
G |
15: 31,486,141 (GRCm39) |
S376P |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,378,264 (GRCm39) |
Y289C |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,977,967 (GRCm39) |
T114A |
probably benign |
Het |
| Ntrk3 |
C |
A |
7: 77,842,340 (GRCm39) |
K829N |
probably damaging |
Het |
| Or4b1d |
A |
T |
2: 89,969,414 (GRCm39) |
V23E |
possibly damaging |
Het |
| Pcdhgc5 |
A |
T |
18: 37,953,151 (GRCm39) |
I142F |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,468,166 (GRCm39) |
R153G |
probably damaging |
Het |
| Rgs19 |
T |
C |
2: 181,331,525 (GRCm39) |
K93R |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,634,845 (GRCm39) |
V129E |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,989,241 (GRCm39) |
L299P |
probably damaging |
Het |
| Tle2 |
T |
C |
10: 81,422,085 (GRCm39) |
S353P |
probably benign |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,298 (GRCm39) |
V84A |
probably benign |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,746 (GRCm39) |
K266* |
probably null |
Het |
|
| Other mutations in Wwtr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Wwtr1
|
APN |
3 |
57,370,942 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL00230:Wwtr1
|
APN |
3 |
57,370,912 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01684:Wwtr1
|
APN |
3 |
57,483,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01859:Wwtr1
|
APN |
3 |
57,384,938 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01936:Wwtr1
|
APN |
3 |
57,482,241 (GRCm39) |
splice site |
probably benign |
|
|
R0352:Wwtr1
|
UTSW |
3 |
57,482,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0586:Wwtr1
|
UTSW |
3 |
57,366,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Wwtr1
|
UTSW |
3 |
57,369,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2364:Wwtr1
|
UTSW |
3 |
57,370,024 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4453:Wwtr1
|
UTSW |
3 |
57,482,680 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5325:Wwtr1
|
UTSW |
3 |
57,482,658 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6601:Wwtr1
|
UTSW |
3 |
57,483,159 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7915:Wwtr1
|
UTSW |
3 |
57,483,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8221:Wwtr1
|
UTSW |
3 |
57,366,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Wwtr1
|
UTSW |
3 |
57,369,945 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8827:Wwtr1
|
UTSW |
3 |
57,482,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9535:Wwtr1
|
UTSW |
3 |
57,384,825 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2016-08-02 |
Incidental Mutation