Incidental Mutation 'R2364:Wwtr1'
| ID |
247258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwtr1
|
| Ensembl Gene |
ENSMUSG00000027803 |
| Gene Name |
WW domain containing transcription regulator 1 |
| Synonyms |
TAZ, transcriptional coactivator with PDZ binding motif, 2610021I22Rik, 2310058J06Rik |
| MMRRC Submission |
040345-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.692)
|
| Stock # |
R2364 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
57363070-57483331 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57370024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 364
(T364A)
|
| 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: T307A
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029380
Gene: ENSMUSG00000027803
AA Change: T307A
| 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 |
possibly damaging
Transcript: ENSMUST00000120977
AA Change: T364A
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113040
Gene: ENSMUSG00000027803
AA Change: T364A
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
A |
G |
3: 137,871,584 (GRCm39) |
S268P |
probably benign |
Het |
| Adam6a |
A |
G |
12: 113,508,250 (GRCm39) |
K208E |
probably benign |
Het |
| Anks6 |
A |
G |
4: 47,027,248 (GRCm39) |
S725P |
possibly damaging |
Het |
| Asb3 |
A |
G |
11: 31,051,192 (GRCm39) |
I549V |
probably benign |
Het |
| Blvrb |
A |
G |
7: 27,147,558 (GRCm39) |
I6V |
possibly damaging |
Het |
| Cabs1 |
A |
T |
5: 88,128,092 (GRCm39) |
T248S |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,279,046 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fpr1 |
A |
T |
17: 18,097,872 (GRCm39) |
L39* |
probably null |
Het |
| Gstm5 |
A |
G |
3: 107,803,687 (GRCm39) |
E40G |
probably benign |
Het |
| Hnrnpr |
A |
G |
4: 136,054,640 (GRCm39) |
M97V |
possibly damaging |
Het |
| Hs6st1 |
T |
C |
1: 36,107,800 (GRCm39) |
V21A |
probably benign |
Het |
| Hsp90aa1 |
A |
T |
12: 110,659,187 (GRCm39) |
F537I |
probably damaging |
Het |
| Insr |
T |
C |
8: 3,224,820 (GRCm39) |
D216G |
probably benign |
Het |
| Kif2a |
A |
T |
13: 107,113,344 (GRCm39) |
N428K |
probably damaging |
Het |
| Mapk10 |
G |
T |
5: 103,186,507 (GRCm39) |
N38K |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,185,344 (GRCm39) |
E865G |
probably benign |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,887,577 (GRCm39) |
Y252H |
probably damaging |
Het |
| Or4k6 |
A |
T |
14: 50,475,612 (GRCm39) |
H243Q |
probably damaging |
Het |
| Or5b104 |
A |
G |
19: 13,072,118 (GRCm39) |
V298A |
probably damaging |
Het |
| Os9 |
T |
A |
10: 126,955,007 (GRCm39) |
K180N |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,991 (GRCm39) |
I506F |
probably damaging |
Het |
| Pros1 |
T |
G |
16: 62,734,211 (GRCm39) |
L339R |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,209 (GRCm39) |
I266V |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,899,391 (GRCm39) |
V632A |
probably damaging |
Het |
| Tpcn1 |
G |
T |
5: 120,691,559 (GRCm39) |
C298* |
probably null |
Het |
| Ubfd1 |
T |
A |
7: 121,668,167 (GRCm39) |
D232E |
probably benign |
Het |
| Vamp1 |
A |
T |
6: 125,217,306 (GRCm39) |
I117L |
probably benign |
Het |
| Zbtb47 |
C |
T |
9: 121,596,660 (GRCm39) |
P672L |
probably damaging |
Het |
| Zfp143 |
C |
A |
7: 109,682,449 (GRCm39) |
T339K |
probably damaging |
Het |
| Zfp317 |
A |
G |
9: 19,559,031 (GRCm39) |
D415G |
probably benign |
Het |
| Zfp628 |
A |
G |
7: 4,923,686 (GRCm39) |
H636R |
probably damaging |
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 |
|
|
IGL03235:Wwtr1
|
APN |
3 |
57,384,954 (GRCm39) |
missense |
probably benign |
0.24 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCACAAACTCTGAAAGGTC -3'
(R):5'- AAACCCCTGCCCTTGTATGG -3'
Sequencing Primer
(F):5'- AATAGCAGACTGAGTGGAATTTTAG -3'
(R):5'- GGCCAGTTTTAGTGCATAGAATTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation