Incidental Mutation 'R4453:Wwtr1'
ID |
329040 |
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 |
041152-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.728)
|
Stock # |
R4453 (G1)
|
Quality Score |
108 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
57363070-57483331 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 57482680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029380]
[ENSMUST00000029380]
[ENSMUST00000120977]
[ENSMUST00000120977]
[ENSMUST00000120977]
|
AlphaFold |
Q9EPK5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000029380
|
SMART Domains |
Protein: ENSMUSP00000029380 Gene: ENSMUSG00000027803
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 null
Transcript: ENSMUST00000029380
|
SMART Domains |
Protein: ENSMUSP00000029380 Gene: ENSMUSG00000027803
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 null
Transcript: ENSMUST00000120977
|
SMART Domains |
Protein: ENSMUSP00000113040 Gene: ENSMUSG00000027803
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000120977
|
SMART Domains |
Protein: ENSMUSP00000113040 Gene: ENSMUSG00000027803
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000120977
|
SMART Domains |
Protein: ENSMUSP00000113040 Gene: ENSMUSG00000027803
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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano7 |
A |
G |
1: 93,322,075 (GRCm39) |
D361G |
probably damaging |
Het |
Atp10a |
TGGCGGCGGC |
TGGCGGC |
7: 58,308,248 (GRCm39) |
|
probably benign |
Het |
Ccdc86 |
G |
T |
19: 10,925,883 (GRCm39) |
P239T |
probably damaging |
Het |
Ces2h |
G |
A |
8: 105,741,288 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
A |
2: 91,379,190 (GRCm39) |
S43R |
probably damaging |
Het |
Cpne6 |
G |
A |
14: 55,750,054 (GRCm39) |
V62M |
probably damaging |
Het |
Dmbt1 |
T |
C |
7: 130,642,664 (GRCm39) |
C161R |
probably damaging |
Het |
Dnajc10 |
T |
C |
2: 80,176,967 (GRCm39) |
S641P |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Grm2 |
G |
A |
9: 106,531,078 (GRCm39) |
T137I |
probably damaging |
Het |
Gusb |
A |
G |
5: 130,027,324 (GRCm39) |
V327A |
possibly damaging |
Het |
Helz |
C |
T |
11: 107,563,455 (GRCm39) |
Q1631* |
probably null |
Het |
Hspa1a |
A |
G |
17: 35,189,269 (GRCm39) |
Y545H |
probably benign |
Het |
Hus1 |
A |
T |
11: 8,956,035 (GRCm39) |
M166K |
probably damaging |
Het |
Kcnh1 |
C |
A |
1: 192,187,825 (GRCm39) |
T762K |
probably damaging |
Het |
Limd1 |
C |
A |
9: 123,309,359 (GRCm39) |
Q353K |
possibly damaging |
Het |
Lipe |
T |
A |
7: 25,097,115 (GRCm39) |
K276I |
probably damaging |
Het |
Ntpcr |
G |
A |
8: 126,462,929 (GRCm39) |
V49I |
probably benign |
Het |
Or6c70 |
T |
C |
10: 129,710,530 (GRCm39) |
N32S |
probably null |
Het |
Ppp1r1c |
A |
G |
2: 79,538,575 (GRCm39) |
I20V |
possibly damaging |
Het |
Prdm13 |
G |
T |
4: 21,679,464 (GRCm39) |
A342E |
unknown |
Het |
Prkd3 |
C |
A |
17: 79,290,975 (GRCm39) |
R180L |
probably damaging |
Het |
Prune2 |
T |
C |
19: 17,099,274 (GRCm39) |
F1593L |
probably benign |
Het |
Rims2 |
T |
A |
15: 39,155,603 (GRCm39) |
C95S |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,528,272 (GRCm39) |
M1510V |
probably benign |
Het |
Taf12 |
A |
G |
4: 132,010,306 (GRCm39) |
I92V |
probably benign |
Het |
Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
Tssk5 |
G |
A |
15: 76,258,743 (GRCm39) |
R48C |
probably benign |
Het |
Zfp286 |
C |
G |
11: 62,671,030 (GRCm39) |
G348R |
probably damaging |
Het |
Zfp473 |
T |
A |
7: 44,382,678 (GRCm39) |
T552S |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,763,465 (GRCm39) |
F1371L |
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 |
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 |
R2364:Wwtr1
|
UTSW |
3 |
57,370,024 (GRCm39) |
missense |
possibly damaging |
0.77 |
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'- AGATGTGCATGCTGCTGTGC -3'
(R):5'- CTGTTGCGGGAAAGTTGCATAATC -3'
Sequencing Primer
(F):5'- CGCCTGATGAGTCTGTGC -3'
(R):5'- TTGCATAATCTCGGAGGCCAG -3'
|
Posted On |
2015-07-21 |