Incidental Mutation 'R6601:Wwtr1'
ID 525247
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 044725-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R6601 (G1)
Quality Score 120.008
Status Validated
Chromosome 3
Chromosomal Location 57363070-57483331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57483159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 48 (E48G)
Ref Sequence ENSEMBL: ENSMUSP00000113040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029380] [ENSMUST00000120977]
AlphaFold Q9EPK5
Predicted Effect probably benign
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 possibly damaging
Transcript: ENSMUST00000120977
AA Change: E48G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113040
Gene: ENSMUSG00000027803
AA Change: E48G

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 98% (41/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 T G 1: 58,102,665 (GRCm39) L527R probably damaging Het
Ccdc172 T A 19: 58,525,723 (GRCm39) C194S possibly damaging Het
Ccnb1ip1 G T 14: 51,031,121 (GRCm39) T64K possibly damaging Het
Ces1b T C 8: 93,806,109 (GRCm39) E44G probably benign Het
Coro2a A T 4: 46,543,421 (GRCm39) Y317* probably null Het
Csnk1a1 T C 18: 61,711,829 (GRCm39) F281S probably damaging Het
Ddx28 A T 8: 106,737,248 (GRCm39) probably null Het
Dtnbp1 A G 13: 45,084,721 (GRCm39) probably null Het
Eif2s1 T C 12: 78,930,126 (GRCm39) I258T possibly damaging Het
Elp3 T C 14: 65,784,488 (GRCm39) *554W probably null Het
Golga1 T C 2: 38,910,118 (GRCm39) M610V probably damaging Het
Hc T A 2: 34,935,906 (GRCm39) K156N probably benign Het
Hcls1 G A 16: 36,782,748 (GRCm39) G428D probably benign Het
Il16 T C 7: 83,371,677 (GRCm39) D43G probably damaging Het
Klhl3 C A 13: 58,242,930 (GRCm39) K91N probably damaging Het
L3mbtl1 C T 2: 162,790,095 (GRCm39) probably benign Het
Lamc3 T C 2: 31,810,544 (GRCm39) F805L possibly damaging Het
Lipg T C 18: 75,081,275 (GRCm39) M269V probably benign Het
Ly75 G A 2: 60,148,720 (GRCm39) T1203I probably benign Het
Mat1a T A 14: 40,827,561 (GRCm39) V5E probably benign Het
Muc16 A T 9: 18,548,866 (GRCm39) L5809Q probably benign Het
Naip6 G A 13: 100,420,266 (GRCm39) R1335C probably benign Het
Ndufaf3 T C 9: 108,443,416 (GRCm39) H128R probably benign Het
Nphp4 A T 4: 152,587,464 (GRCm39) probably null Het
Or8u8 T A 2: 86,012,309 (GRCm39) I49F probably damaging Het
Otop3 T C 11: 115,230,673 (GRCm39) V148A probably damaging Het
Ovgp1 T C 3: 105,893,747 (GRCm39) probably benign Het
Pcsk5 T G 19: 17,488,744 (GRCm39) R1025S probably benign Het
Pkd1l2 T C 8: 117,767,405 (GRCm39) D1295G probably benign Het
Polr1d T A 5: 147,015,359 (GRCm39) L14* probably null Het
Rab26 T A 17: 24,748,595 (GRCm39) K270* probably null Het
Rasgef1c T A 11: 49,862,246 (GRCm39) N378K probably damaging Het
Rpl7a T C 2: 26,801,536 (GRCm39) V76A probably benign Het
Samd9l T A 6: 3,377,229 (GRCm39) I11F possibly damaging Het
Smarca2 C A 19: 26,631,777 (GRCm39) Q531K probably benign Het
Styxl1 C G 5: 135,784,350 (GRCm39) G211A probably benign Het
Taar9 T C 10: 23,984,945 (GRCm39) Y163C probably damaging Het
Tmem198 T A 1: 75,457,017 (GRCm39) F48I possibly damaging Het
Ttn T A 2: 76,595,073 (GRCm39) N12032I probably damaging Het
Ubr7 T A 12: 102,727,723 (GRCm39) C82S probably damaging Het
Zfp108 T C 7: 23,960,819 (GRCm39) V470A probably damaging Het
Zfp612 C A 8: 110,816,181 (GRCm39) Q424K possibly damaging Het
Zscan4-ps1 T C 7: 10,802,761 (GRCm39) T13A 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
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
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'- AACAGAGAAGCTCCCCTGAG -3'
(R):5'- CCCAAGTCAGTGGTAAACTCAAAG -3'

Sequencing Primer
(F):5'- ACTGCGGTCGTCTAAGAGC -3'
(R):5'- ATGCAGATAGGCGCTCGG -3'
Posted On 2018-06-22