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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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