Incidental Mutation 'IGL00230:Wwtr1'
ID2472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wwtr1
Ensembl Gene ENSMUSG00000027803
Gene NameWW domain containing transcription regulator 1
Synonyms2610021I22Rik, transcriptional coactivator with PDZ binding motif, 2310058J06Rik, TAZ
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.791) question?
Stock #IGL00230
Quality Score
Status
Chromosome3
Chromosomal Location57455649-57575910 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 57463491 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 338 (T338I)
Ref Sequence ENSEMBL: ENSMUSP00000113040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029380] [ENSMUST00000120977]
Predicted Effect probably benign
Transcript: ENSMUST00000029380
AA Change: T281I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000029380
Gene: ENSMUSG00000027803
AA Change: T281I

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 benign
Transcript: ENSMUST00000120977
AA Change: T338I

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113040
Gene: ENSMUSG00000027803
AA Change: T338I

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bin1 C T 18: 32,420,107 A215V probably damaging Het
Cyp2j6 C T 4: 96,536,046 R158H possibly damaging Het
Dnaaf2 T C 12: 69,196,766 D507G probably benign Het
Fam13b T C 18: 34,487,096 E245G possibly damaging Het
Gal3st1 A T 11: 3,999,070 probably benign Het
Galnt5 A T 2: 57,998,973 Q195L probably benign Het
Gfm2 A G 13: 97,155,442 T229A probably benign Het
Gigyf1 A G 5: 137,522,745 probably benign Het
Gm4353 G T 7: 116,083,554 T264K probably damaging Het
Gsk3b A T 16: 38,228,707 I389F probably benign Het
Hist1h2bm G T 13: 21,722,375 R93L possibly damaging Het
Htt A G 5: 34,799,408 T194A probably benign Het
Ighg3 T C 12: 113,359,837 Y273C unknown Het
Kdm5b T A 1: 134,620,955 V1066D probably damaging Het
Kif1a G T 1: 93,054,934 A707E probably damaging Het
Maats1 A G 16: 38,336,342 probably null Het
Mars A G 10: 127,298,006 M674T probably benign Het
Mas1 T C 17: 12,841,990 D182G probably benign Het
Metap1d T A 2: 71,512,162 D178E probably damaging Het
Nhsl1 T A 10: 18,527,609 D1329E probably benign Het
Ninl T C 2: 150,966,241 E289G probably damaging Het
Pmel G T 10: 128,716,089 G264V possibly damaging Het
Ruvbl1 T C 6: 88,484,403 probably benign Het
Scn8a T A 15: 100,955,532 probably benign Het
Sept9 T C 11: 117,354,804 probably benign Het
Sgpp1 G T 12: 75,716,194 Y404* probably null Het
Sgsm1 T C 5: 113,245,064 I788V probably benign Het
Slc13a4 A T 6: 35,289,824 M112K probably benign Het
Slc22a29 T C 19: 8,217,813 M153V probably benign Het
Slc9c1 T G 16: 45,573,389 V565G possibly damaging Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Tec C T 5: 72,768,768 A314T probably damaging Het
Tg A G 15: 66,827,290 I803V probably benign Het
Trav9-1 A T 14: 53,488,393 I55F probably benign Het
Ttll12 C A 15: 83,578,656 E536D probably benign Het
Ubqln1 C A 13: 58,177,992 E152* probably null Het
Zdhhc16 T C 19: 41,939,660 F206S probably benign Het
Other mutations in Wwtr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Wwtr1 APN 3 57463521 missense possibly damaging 0.46
IGL01684:Wwtr1 APN 3 57575789 missense probably damaging 1.00
IGL01859:Wwtr1 APN 3 57477517 missense possibly damaging 0.95
IGL01936:Wwtr1 APN 3 57574820 splice site probably benign
IGL03235:Wwtr1 APN 3 57477533 missense probably benign 0.24
R0352:Wwtr1 UTSW 3 57575127 missense probably damaging 1.00
R0586:Wwtr1 UTSW 3 57459066 missense probably damaging 1.00
R1797:Wwtr1 UTSW 3 57462575 missense probably damaging 1.00
R2364:Wwtr1 UTSW 3 57462603 missense possibly damaging 0.77
R4453:Wwtr1 UTSW 3 57575259 critical splice acceptor site probably null
R5325:Wwtr1 UTSW 3 57575237 missense probably benign 0.09
R6601:Wwtr1 UTSW 3 57575738 missense possibly damaging 0.89
R7915:Wwtr1 UTSW 3 57575599 critical splice donor site probably null
R8221:Wwtr1 UTSW 3 57459020 missense probably damaging 1.00
Posted On2011-12-09