Incidental Mutation 'IGL00155:Wwtr1'
ID |
1790 |
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 # |
IGL00155
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
57363070-57483331 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57370942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 328
(M328K)
|
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: M271K
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000029380 Gene: ENSMUSG00000027803 AA Change: M271K
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: M328K
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113040 Gene: ENSMUSG00000027803 AA Change: M328K
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
C |
5: 125,590,235 (GRCm39) |
F498S |
probably damaging |
Het |
Arhgap11a |
A |
G |
2: 113,664,601 (GRCm39) |
S561P |
probably benign |
Het |
Best3 |
T |
C |
10: 116,824,632 (GRCm39) |
Y33H |
probably damaging |
Het |
Cd209b |
T |
A |
8: 3,969,945 (GRCm39) |
|
probably benign |
Het |
Cep152 |
A |
G |
2: 125,405,808 (GRCm39) |
S1575P |
probably benign |
Het |
Crabp2 |
A |
G |
3: 87,859,506 (GRCm39) |
Y52C |
probably damaging |
Het |
Crybg1 |
T |
C |
10: 43,868,505 (GRCm39) |
D1017G |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 76,957,744 (GRCm39) |
W137R |
probably damaging |
Het |
Cxcl9 |
T |
A |
5: 92,471,728 (GRCm39) |
H104L |
possibly damaging |
Het |
Ddr2 |
A |
G |
1: 169,811,996 (GRCm39) |
I742T |
possibly damaging |
Het |
Frem1 |
A |
G |
4: 82,877,626 (GRCm39) |
V223A |
possibly damaging |
Het |
Fzd10 |
T |
A |
5: 128,678,592 (GRCm39) |
I104N |
probably damaging |
Het |
Greb1 |
A |
G |
12: 16,761,962 (GRCm39) |
S473P |
probably damaging |
Het |
Gtf2i |
T |
C |
5: 134,271,602 (GRCm39) |
Y873C |
probably damaging |
Het |
Igsf6 |
T |
A |
7: 120,669,876 (GRCm39) |
K89* |
probably null |
Het |
Ints3 |
A |
G |
3: 90,313,636 (GRCm39) |
F331L |
probably damaging |
Het |
Kcnh3 |
A |
T |
15: 99,140,354 (GRCm39) |
H1080L |
possibly damaging |
Het |
Mettl15 |
A |
T |
2: 108,923,521 (GRCm39) |
Y300* |
probably null |
Het |
Mms19 |
A |
G |
19: 41,936,672 (GRCm39) |
F654L |
probably benign |
Het |
Myc |
A |
G |
15: 61,861,669 (GRCm39) |
H425R |
probably benign |
Het |
Ntn1 |
G |
T |
11: 68,117,445 (GRCm39) |
|
probably benign |
Het |
Ormdl2 |
C |
A |
10: 128,655,944 (GRCm39) |
G69W |
probably damaging |
Het |
Pdpr |
T |
C |
8: 111,828,704 (GRCm39) |
V69A |
possibly damaging |
Het |
Rbbp6 |
T |
C |
7: 122,587,908 (GRCm39) |
I254T |
probably damaging |
Het |
Sema6d |
A |
G |
2: 124,501,785 (GRCm39) |
R543G |
possibly damaging |
Het |
Slc18a1 |
C |
T |
8: 69,503,998 (GRCm39) |
A314T |
probably damaging |
Het |
Slc22a26 |
A |
G |
19: 7,760,201 (GRCm39) |
L514P |
probably damaging |
Het |
Slc22a28 |
A |
C |
19: 8,107,567 (GRCm39) |
S167A |
possibly damaging |
Het |
Speer1m |
A |
G |
5: 11,971,377 (GRCm39) |
S110G |
possibly damaging |
Het |
Tchh |
A |
G |
3: 93,352,606 (GRCm39) |
E682G |
unknown |
Het |
Thbs2 |
A |
T |
17: 14,889,097 (GRCm39) |
M1134K |
probably damaging |
Het |
Tmem26 |
A |
G |
10: 68,611,184 (GRCm39) |
S218G |
probably damaging |
Het |
Tmprss11c |
A |
T |
5: 86,387,254 (GRCm39) |
S208R |
probably benign |
Het |
Tnfrsf8 |
T |
C |
4: 145,019,161 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
C |
1: 188,596,875 (GRCm39) |
S3872P |
probably benign |
Het |
Vmn1r69 |
T |
C |
7: 10,313,879 (GRCm39) |
N205S |
probably benign |
Het |
Vmn2r54 |
T |
A |
7: 12,365,840 (GRCm39) |
|
probably benign |
Het |
Zfp64 |
G |
A |
2: 168,768,601 (GRCm39) |
S337L |
probably benign |
Het |
|
Other mutations in Wwtr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2011-07-12 |