Incidental Mutation 'IGL01859:Wwtr1'
ID 178240
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) question?
Stock # IGL01859
Quality Score
Status
Chromosome 3
Chromosomal Location 57363070-57483331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 57384938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 203 (L203R)
Ref Sequence ENSEMBL: ENSMUSP00000029380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029380] [ENSMUST00000120977]
AlphaFold Q9EPK5
Predicted Effect possibly damaging
Transcript: ENSMUST00000029380
AA Change: L203R

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029380
Gene: ENSMUSG00000027803
AA Change: L203R

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: L260R

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113040
Gene: ENSMUSG00000027803
AA Change: L260R

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 103,963,336 (GRCm39) probably benign Het
Ak7 A G 12: 105,711,556 (GRCm39) M398V probably null Het
Angptl3 C T 4: 98,925,669 (GRCm39) R332* probably null Het
Ano7 A G 1: 93,322,168 (GRCm39) Y392C probably damaging Het
Arpc1b T C 5: 145,060,540 (GRCm39) F18L probably damaging Het
Cdc23 G T 18: 34,784,459 (GRCm39) P73Q probably benign Het
Cdkl1 A C 12: 69,806,903 (GRCm39) L111R probably damaging Het
Cntnap2 A G 6: 46,965,655 (GRCm39) D822G probably damaging Het
Col6a5 G A 9: 105,808,160 (GRCm39) R963* probably null Het
Crocc T C 4: 140,756,601 (GRCm39) D1008G probably benign Het
Dntt G T 19: 41,025,743 (GRCm39) M120I probably benign Het
Dock1 A G 7: 134,678,890 (GRCm39) Y1003C possibly damaging Het
Fam178b T A 1: 36,698,446 (GRCm39) R92W probably damaging Het
Fermt2 A G 14: 45,697,413 (GRCm39) V646A possibly damaging Het
Foxc1 T C 13: 31,992,706 (GRCm39) S506P unknown Het
Gtpbp1 T A 15: 79,603,341 (GRCm39) V610E probably benign Het
H2-T15 A T 17: 36,368,903 (GRCm39) M59K possibly damaging Het
Hsdl2 T C 4: 59,601,569 (GRCm39) probably null Het
Itgb8 T A 12: 119,153,680 (GRCm39) R278S probably damaging Het
Kcnh7 T A 2: 62,552,132 (GRCm39) D953V probably benign Het
Med13 A T 11: 86,174,577 (GRCm39) D1749E possibly damaging Het
Mocos G T 18: 24,799,717 (GRCm39) probably benign Het
Pcdhb20 T G 18: 37,637,616 (GRCm39) N47K probably damaging Het
Phf21a T A 2: 92,158,701 (GRCm39) F227L probably damaging Het
Piezo2 T C 18: 63,225,915 (GRCm39) E907G probably benign Het
Pla2g4e G T 2: 120,013,214 (GRCm39) Q369K possibly damaging Het
Ppp3cb A G 14: 20,559,517 (GRCm39) I413T probably damaging Het
Ptgis A G 2: 167,056,726 (GRCm39) probably null Het
Rasgrp1 A G 2: 117,119,899 (GRCm39) V452A probably benign Het
Rbms3 T A 9: 116,788,606 (GRCm39) D105V probably damaging Het
Rnase1 C A 14: 51,383,260 (GRCm39) Q31H probably benign Het
Rnase13 G T 14: 52,159,760 (GRCm39) N126K probably damaging Het
Sema5b G T 16: 35,467,479 (GRCm39) V248L possibly damaging Het
Serpinb12 G A 1: 106,881,564 (GRCm39) probably null Het
Slc4a11 A T 2: 130,526,914 (GRCm39) L738Q probably damaging Het
Spta1 A T 1: 174,001,938 (GRCm39) I23F probably damaging Het
Stk-ps2 A T 1: 46,069,202 (GRCm39) noncoding transcript Het
Tcp1 A G 17: 13,141,571 (GRCm39) E350G possibly damaging Het
Tonsl T C 15: 76,518,980 (GRCm39) K518E probably damaging Het
Trim34a A G 7: 103,910,149 (GRCm39) E317G probably damaging Het
Trit1 A G 4: 122,943,344 (GRCm39) S335G probably benign Het
Usp28 G T 9: 48,935,321 (GRCm39) E91* probably null Het
Vmn2r56 A G 7: 12,449,932 (GRCm39) L102P probably damaging Het
Zfp110 T C 7: 12,583,467 (GRCm39) V705A possibly damaging Het
Zfp955a T C 17: 33,462,693 (GRCm39) N67S 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
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 2014-05-07