Incidental Mutation 'IGL00230:Wwtr1'
ID |
2472 |
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: 0.692)
|
Stock # |
IGL00230
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
57363070-57483331 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 57370912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 338
(T338I)
|
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: T281I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000029380 Gene: ENSMUSG00000027803 AA Change: T281I
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: T338I
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000113040 Gene: ENSMUSG00000027803 AA Change: T338I
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bin1 |
C |
T |
18: 32,553,160 (GRCm39) |
A215V |
probably damaging |
Het |
Cfap91 |
A |
G |
16: 38,156,704 (GRCm39) |
|
probably null |
Het |
Cyp2j6 |
C |
T |
4: 96,424,283 (GRCm39) |
R158H |
possibly damaging |
Het |
Dnaaf2 |
T |
C |
12: 69,243,540 (GRCm39) |
D507G |
probably benign |
Het |
Fam13b |
T |
C |
18: 34,620,149 (GRCm39) |
E245G |
possibly damaging |
Het |
Gal3st1 |
A |
T |
11: 3,949,070 (GRCm39) |
|
probably benign |
Het |
Galnt5 |
A |
T |
2: 57,888,985 (GRCm39) |
Q195L |
probably benign |
Het |
Gfm2 |
A |
G |
13: 97,291,950 (GRCm39) |
T229A |
probably benign |
Het |
Gigyf1 |
A |
G |
5: 137,521,007 (GRCm39) |
|
probably benign |
Het |
Gm4353 |
G |
T |
7: 115,682,789 (GRCm39) |
T264K |
probably damaging |
Het |
Gsk3b |
A |
T |
16: 38,049,069 (GRCm39) |
I389F |
probably benign |
Het |
H2bc14 |
G |
T |
13: 21,906,545 (GRCm39) |
R93L |
possibly damaging |
Het |
Htt |
A |
G |
5: 34,956,752 (GRCm39) |
T194A |
probably benign |
Het |
Ighg3 |
T |
C |
12: 113,323,457 (GRCm39) |
Y273C |
unknown |
Het |
Kdm5b |
T |
A |
1: 134,548,693 (GRCm39) |
V1066D |
probably damaging |
Het |
Kif1a |
G |
T |
1: 92,982,656 (GRCm39) |
A707E |
probably damaging |
Het |
Mars1 |
A |
G |
10: 127,133,875 (GRCm39) |
M674T |
probably benign |
Het |
Mas1 |
T |
C |
17: 13,060,877 (GRCm39) |
D182G |
probably benign |
Het |
Metap1d |
T |
A |
2: 71,342,506 (GRCm39) |
D178E |
probably damaging |
Het |
Nhsl1 |
T |
A |
10: 18,403,357 (GRCm39) |
D1329E |
probably benign |
Het |
Ninl |
T |
C |
2: 150,808,161 (GRCm39) |
E289G |
probably damaging |
Het |
Pmel |
G |
T |
10: 128,551,958 (GRCm39) |
G264V |
possibly damaging |
Het |
Ruvbl1 |
T |
C |
6: 88,461,385 (GRCm39) |
|
probably benign |
Het |
Scn8a |
T |
A |
15: 100,853,413 (GRCm39) |
|
probably benign |
Het |
Septin9 |
T |
C |
11: 117,245,630 (GRCm39) |
|
probably benign |
Het |
Sgpp1 |
G |
T |
12: 75,762,968 (GRCm39) |
Y404* |
probably null |
Het |
Sgsm1 |
T |
C |
5: 113,392,930 (GRCm39) |
I788V |
probably benign |
Het |
Slc13a4 |
A |
T |
6: 35,266,759 (GRCm39) |
M112K |
probably benign |
Het |
Slc22a29 |
T |
C |
19: 8,195,177 (GRCm39) |
M153V |
probably benign |
Het |
Slc9c1 |
T |
G |
16: 45,393,752 (GRCm39) |
V565G |
possibly damaging |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Tec |
C |
T |
5: 72,926,111 (GRCm39) |
A314T |
probably damaging |
Het |
Tg |
A |
G |
15: 66,699,139 (GRCm39) |
I803V |
probably benign |
Het |
Trav9-1 |
A |
T |
14: 53,725,850 (GRCm39) |
I55F |
probably benign |
Het |
Ttll12 |
C |
A |
15: 83,462,857 (GRCm39) |
E536D |
probably benign |
Het |
Ubqln1 |
C |
A |
13: 58,325,806 (GRCm39) |
E152* |
probably null |
Het |
Zdhhc16 |
T |
C |
19: 41,928,099 (GRCm39) |
F206S |
probably benign |
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 |
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 |
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 |
2011-12-09 |