Incidental Mutation 'IGL01550:Wbp4'
ID90574
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wbp4
Ensembl Gene ENSMUSG00000022023
Gene NameWW domain binding protein 4
SynonymsFBP21
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.921) question?
Stock #IGL01550
Quality Score
Status
Chromosome14
Chromosomal Location79459937-79481520 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79466334 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 258 (T258A)
Ref Sequence ENSEMBL: ENSMUSP00000154101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022601] [ENSMUST00000227584]
Predicted Effect probably benign
Transcript: ENSMUST00000022601
AA Change: T258A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000022601
Gene: ENSMUSG00000022023
AA Change: T258A

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 benign
Transcript: ENSMUST00000227584
AA Change: T258A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik T G 11: 3,937,974 R137S unknown Het
Epha8 G T 4: 136,931,740 Q868K possibly damaging Het
Erc1 T A 6: 119,783,394 M386L probably damaging Het
Gfpt2 T A 11: 49,824,323 probably null Het
Gm14124 T A 2: 150,266,443 probably benign Het
Gpr142 T A 11: 114,804,326 L39Q probably damaging Het
Hmcn1 A T 1: 150,598,397 W4765R probably damaging Het
Hmcn2 A T 2: 31,424,252 E3603V possibly damaging Het
Hsp90b1 C T 10: 86,704,370 D26N probably benign Het
Kmt2c T C 5: 25,281,276 T4760A probably damaging Het
Lmo7 C A 14: 101,926,140 probably benign Het
Mup4 A T 4: 59,960,120 I48K probably damaging Het
Mylk3 T A 8: 85,365,089 D29V probably damaging Het
Myo1b A G 1: 51,784,531 F405S probably damaging Het
Nbea T C 3: 55,805,248 D2136G possibly damaging Het
Olfr243 T G 7: 103,716,997 H134Q probably damaging Het
Olfr364-ps1 A T 2: 37,146,974 Y254F probably damaging Het
Olfr869 A T 9: 20,137,454 T113S probably damaging Het
Olfr996 T A 2: 85,579,531 C97* probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rpp40 T C 13: 35,906,200 probably null Het
Samd7 T A 3: 30,765,250 S383T probably damaging Het
Tbc1d10c T C 19: 4,184,824 T413A probably damaging Het
Tlr12 A G 4: 128,615,742 L905P probably damaging Het
Tnr A G 1: 159,874,258 K643R probably benign Het
Vmn2r124 T C 17: 18,063,355 probably null Het
Vwf A T 6: 125,679,289 I2606F probably benign Het
Zfp758 T C 17: 22,375,040 L137S probably damaging Het
Other mutations in Wbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02859:Wbp4 APN 14 79470689 missense probably damaging 1.00
IGL03369:Wbp4 APN 14 79470118 missense probably damaging 1.00
R4646:Wbp4 UTSW 14 79472361 missense possibly damaging 0.83
R5439:Wbp4 UTSW 14 79472397 missense possibly damaging 0.52
R6564:Wbp4 UTSW 14 79467428 missense probably damaging 1.00
R6955:Wbp4 UTSW 14 79472360 missense probably benign 0.05
R7396:Wbp4 UTSW 14 79476821 missense probably damaging 1.00
R7715:Wbp4 UTSW 14 79466294 missense probably benign
R7733:Wbp4 UTSW 14 79477040 critical splice donor site probably null
R7901:Wbp4 UTSW 14 79472405 missense probably damaging 0.99
R7984:Wbp4 UTSW 14 79472405 missense probably damaging 0.99
X0063:Wbp4 UTSW 14 79462046 missense probably benign 0.28
Z1176:Wbp4 UTSW 14 79466329 missense probably benign 0.00
Z1176:Wbp4 UTSW 14 79466330 missense probably benign 0.00
Posted On2013-12-09