Incidental Mutation 'IGL02859:Wbp4'
ID 362079
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wbp4
Ensembl Gene ENSMUSG00000022023
Gene Name WW domain binding protein 4
Synonyms FBP21
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # IGL02859
Quality Score
Status
Chromosome 14
Chromosomal Location 79697377-79718708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79708129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 163 (K163E)
Ref Sequence ENSEMBL: ENSMUSP00000154101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022601] [ENSMUST00000227584]
AlphaFold Q61048
Predicted Effect probably benign
Transcript: ENSMUST00000022601
AA Change: K163E

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000022601
Gene: ENSMUSG00000022023
AA Change: K163E

DomainStartEndE-ValueType
ZnF_U1 8 43 7.43e-12 SMART
low complexity region 54 75 N/A INTRINSIC
low complexity region 113 123 N/A INTRINSIC
WW 124 156 3.14e-10 SMART
WW 165 197 4.07e-9 SMART
low complexity region 242 256 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000227584
AA Change: K163E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228105
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228161
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,415,818 (GRCm39) Y637F possibly damaging Het
Abcc4 A G 14: 118,753,912 (GRCm39) I1025T probably damaging Het
Adam22 C A 5: 8,217,375 (GRCm39) R140L probably damaging Het
Ahdc1 C A 4: 132,790,003 (GRCm39) L415I possibly damaging Het
Ahdc1 T A 4: 132,790,004 (GRCm39) L415H probably damaging Het
Bivm C A 1: 44,176,159 (GRCm39) S305* probably null Het
Clca4b C T 3: 144,617,800 (GRCm39) D768N probably benign Het
Cobl T A 11: 12,319,602 (GRCm39) N31Y probably damaging Het
Col4a5 G A X: 140,392,846 (GRCm39) C484Y unknown Het
Ctnnd1 T C 2: 84,450,253 (GRCm39) probably benign Het
Dnah5 A G 15: 28,383,771 (GRCm39) T2998A probably benign Het
Dnah9 T A 11: 65,772,445 (GRCm39) probably benign Het
F2 T C 2: 91,456,087 (GRCm39) D558G probably damaging Het
Gle1 T A 2: 29,839,240 (GRCm39) W511R probably damaging Het
Gm11564 C T 11: 99,705,953 (GRCm39) S159N unknown Het
Htr6 A G 4: 138,801,745 (GRCm39) C110R probably damaging Het
Ikbke T A 1: 131,197,934 (GRCm39) S391C probably damaging Het
Itgae T C 11: 73,005,693 (GRCm39) F286L probably damaging Het
Kcnb2 A T 1: 15,780,730 (GRCm39) H534L probably damaging Het
Map1b T C 13: 99,569,544 (GRCm39) Y1059C unknown Het
Mul1 A G 4: 138,165,660 (GRCm39) T106A probably damaging Het
Nf2 T A 11: 4,741,209 (GRCm39) E249V probably damaging Het
Nlrp1a T C 11: 70,996,912 (GRCm39) S965G possibly damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Optc T C 1: 133,829,799 (GRCm39) T204A probably damaging Het
Or51f1d T C 7: 102,701,345 (GRCm39) V280A probably benign Het
Or8k37 T C 2: 86,469,992 (GRCm39) N20S probably benign Het
Pcnx2 C T 8: 126,589,912 (GRCm39) R787Q probably damaging Het
Pim1 G A 17: 29,710,909 (GRCm39) E171K probably damaging Het
Pnpt1 T C 11: 29,088,162 (GRCm39) V191A probably damaging Het
Rbbp8 G A 18: 11,871,671 (GRCm39) R796Q probably benign Het
Serpinb9e A G 13: 33,435,633 (GRCm39) D22G possibly damaging Het
Sit1 C T 4: 43,482,831 (GRCm39) M109I probably benign Het
Slc17a8 A G 10: 89,412,446 (GRCm39) V329A probably benign Het
Smg1 T A 7: 117,748,156 (GRCm39) probably benign Het
Snx7 T A 3: 117,623,320 (GRCm39) probably benign Het
Stat2 A T 10: 128,112,480 (GRCm39) E40V probably damaging Het
Vegfa C T 17: 46,335,421 (GRCm39) S291N probably benign Het
Vmn1r61 G T 7: 5,614,288 (GRCm39) L9I probably benign Het
Other mutations in Wbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01550:Wbp4 APN 14 79,703,774 (GRCm39) missense probably benign 0.05
IGL03369:Wbp4 APN 14 79,707,558 (GRCm39) missense probably damaging 1.00
R4646:Wbp4 UTSW 14 79,709,801 (GRCm39) missense possibly damaging 0.83
R5439:Wbp4 UTSW 14 79,709,837 (GRCm39) missense possibly damaging 0.52
R6564:Wbp4 UTSW 14 79,704,868 (GRCm39) missense probably damaging 1.00
R6955:Wbp4 UTSW 14 79,709,800 (GRCm39) missense probably benign 0.05
R7396:Wbp4 UTSW 14 79,714,261 (GRCm39) missense probably damaging 1.00
R7715:Wbp4 UTSW 14 79,703,734 (GRCm39) missense probably benign
R7733:Wbp4 UTSW 14 79,714,480 (GRCm39) critical splice donor site probably null
R7901:Wbp4 UTSW 14 79,709,845 (GRCm39) missense probably damaging 0.99
R8519:Wbp4 UTSW 14 79,714,263 (GRCm39) missense probably damaging 1.00
R8698:Wbp4 UTSW 14 79,707,573 (GRCm39) nonsense probably null
R9277:Wbp4 UTSW 14 79,714,353 (GRCm39) missense probably benign 0.24
R9278:Wbp4 UTSW 14 79,699,486 (GRCm39) missense probably benign 0.08
R9645:Wbp4 UTSW 14 79,707,553 (GRCm39) missense possibly damaging 0.91
X0063:Wbp4 UTSW 14 79,699,486 (GRCm39) missense probably benign 0.28
Z1176:Wbp4 UTSW 14 79,703,770 (GRCm39) missense probably benign 0.00
Z1176:Wbp4 UTSW 14 79,703,769 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18