Incidental Mutation 'IGL00324:Wbp11'
ID5358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wbp11
Ensembl Gene ENSMUSG00000030216
Gene NameWW domain binding protein 11
SynonymsNpwbp, SIPP1, 2510026P17Rik, D6Wsu113e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.955) question?
Stock #IGL00324
Quality Score
Status
Chromosome6
Chromosomal Location136813654-136828233 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 136821670 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000116514] [ENSMUST00000146348] [ENSMUST00000204272]
Predicted Effect probably benign
Transcript: ENSMUST00000116514
SMART Domains Protein: ENSMUSP00000112213
Gene: ENSMUSG00000030216

DomainStartEndE-ValueType
Pfam:Wbp11 12 94 1e-26 PFAM
low complexity region 191 209 N/A INTRINSIC
low complexity region 263 284 N/A INTRINSIC
low complexity region 344 367 N/A INTRINSIC
low complexity region 380 532 N/A INTRINSIC
low complexity region 549 565 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129078
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141598
Predicted Effect probably benign
Transcript: ENSMUST00000146348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151333
Predicted Effect probably benign
Transcript: ENSMUST00000204129
Predicted Effect probably benign
Transcript: ENSMUST00000204272
SMART Domains Protein: ENSMUSP00000145501
Gene: ENSMUSG00000030216

DomainStartEndE-ValueType
Pfam:Wbp11 12 94 3.8e-24 PFAM
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 a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 T C 3: 121,776,993 probably benign Het
Cdk12 T A 11: 98,245,388 L1156Q unknown Het
Ctsl T C 13: 64,368,168 Y66C probably damaging Het
Esd C T 14: 74,736,027 H21Y probably damaging Het
Fcrlb A C 1: 170,908,824 Y128D possibly damaging Het
Gm17027 A T 14: 42,159,310 N196K unknown Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Hpcal1 A G 12: 17,791,145 S175G probably benign Het
Itgam A T 7: 128,085,661 D401V probably damaging Het
Kank1 A G 19: 25,411,758 T932A probably benign Het
Lmod1 A G 1: 135,364,478 K357R probably benign Het
Muc4 A G 16: 32,778,812 I3271V probably benign Het
Nlrc5 A G 8: 94,521,479 K1692E probably damaging Het
Ocln A G 13: 100,535,013 W279R probably damaging Het
Olfr1181 T C 2: 88,423,786 I80V probably benign Het
Pcsk1 A G 13: 75,132,087 K677R probably benign Het
Pitrm1 T A 13: 6,568,666 L586Q probably damaging Het
Plppr3 G A 10: 79,866,669 S217L probably damaging Het
Pnldc1 A T 17: 12,905,758 probably benign Het
Pramef12 A G 4: 144,394,740 L238P possibly damaging Het
Pramef8 T A 4: 143,416,667 M1K probably null Het
Sema6b C T 17: 56,130,048 D204N probably damaging Het
Slc12a5 A G 2: 164,997,121 N1063S probably damaging Het
Tg T C 15: 66,693,424 V1205A probably benign Het
Tmem260 T C 14: 48,486,879 F205L probably benign Het
Trappc11 A T 8: 47,503,302 probably benign Het
Tsen34 A G 7: 3,700,531 *296W probably null Het
Ubr2 A G 17: 46,986,060 probably benign Het
Vmn2r23 T A 6: 123,729,725 W505R possibly damaging Het
Znfx1 A T 2: 167,036,729 M1909K possibly damaging Het
Other mutations in Wbp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01408:Wbp11 APN 6 136814614 unclassified probably benign
R0639:Wbp11 UTSW 6 136816110 unclassified probably benign
R0685:Wbp11 UTSW 6 136814638 unclassified probably benign
R1264:Wbp11 UTSW 6 136814515 unclassified probably benign
R1987:Wbp11 UTSW 6 136820585 missense probably damaging 0.99
R2362:Wbp11 UTSW 6 136824332 missense probably damaging 1.00
R4646:Wbp11 UTSW 6 136821191 missense probably benign 0.10
R5682:Wbp11 UTSW 6 136814254 unclassified probably benign
R6045:Wbp11 UTSW 6 136821535 missense probably damaging 0.99
R6386:Wbp11 UTSW 6 136820525 missense probably benign 0.36
R6567:Wbp11 UTSW 6 136820539 missense probably benign 0.02
R7132:Wbp11 UTSW 6 136821542 missense probably benign 0.24
Posted On2012-04-20