Incidental Mutation 'R6399:Wbp1'
ID 516099
Institutional Source Beutler Lab
Gene Symbol Wbp1
Ensembl Gene ENSMUSG00000030035
Gene Name WW domain binding protein 1
Synonyms
MMRRC Submission 044546-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R6399 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 83096025-83098442 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 83096982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032109] [ENSMUST00000032111] [ENSMUST00000032114] [ENSMUST00000113935] [ENSMUST00000113936] [ENSMUST00000151393] [ENSMUST00000205023] [ENSMUST00000146328] [ENSMUST00000143814]
AlphaFold P97764
Predicted Effect probably benign
Transcript: ENSMUST00000032109
SMART Domains Protein: ENSMUSP00000032109
Gene: ENSMUSG00000030034

DomainStartEndE-ValueType
low complexity region 23 39 N/A INTRINSIC
low complexity region 129 137 N/A INTRINSIC
low complexity region 161 177 N/A INTRINSIC
Pfam:PAPA-1 198 282 1.6e-27 PFAM
Pfam:zf-HIT 294 325 6.1e-10 PFAM
low complexity region 330 343 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000032111
SMART Domains Protein: ENSMUSP00000032111
Gene: ENSMUSG00000030035

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 16 31 N/A INTRINSIC
Pfam:WBP-1 71 177 1.4e-50 PFAM
low complexity region 185 200 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000032114
SMART Domains Protein: ENSMUSP00000032114
Gene: ENSMUSG00000030036

DomainStartEndE-ValueType
transmembrane domain 40 62 N/A INTRINSIC
low complexity region 74 90 N/A INTRINSIC
Pfam:Glyco_hydro_63N 91 267 1.1e-54 PFAM
Pfam:Glyco_hydro_63 349 832 7e-202 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113935
SMART Domains Protein: ENSMUSP00000109568
Gene: ENSMUSG00000030034

DomainStartEndE-ValueType
low complexity region 53 69 N/A INTRINSIC
low complexity region 159 167 N/A INTRINSIC
low complexity region 191 207 N/A INTRINSIC
Pfam:PAPA-1 228 309 4e-23 PFAM
Pfam:zf-HIT 324 355 4.3e-11 PFAM
low complexity region 360 373 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000113936
SMART Domains Protein: ENSMUSP00000109569
Gene: ENSMUSG00000030035

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:WBP-1 36 142 1.2e-50 PFAM
low complexity region 150 165 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123394
Predicted Effect unknown
Transcript: ENSMUST00000151393
AA Change: V95A
SMART Domains Protein: ENSMUSP00000145130
Gene: ENSMUSG00000030035
AA Change: V95A

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 16 31 N/A INTRINSIC
Pfam:WBP-1 71 96 4.4e-6 PFAM
low complexity region 102 113 N/A INTRINSIC
low complexity region 171 189 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203069
Predicted Effect probably benign
Transcript: ENSMUST00000205023
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131939
Predicted Effect silent
Transcript: ENSMUST00000146328
SMART Domains Protein: ENSMUSP00000122900
Gene: ENSMUSG00000030035

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 16 30 N/A INTRINSIC
Pfam:WBP-1 70 176 1.8e-50 PFAM
low complexity region 184 199 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203085
Predicted Effect probably benign
Transcript: ENSMUST00000143814
Predicted Effect silent
Transcript: ENSMUST00000131936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142493
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 95.7%
Validation Efficiency 97% (28/29)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The globular WW domain, named for the conserved tryptophan residues in the protein motif present in various structural and regulatory proteins, is known to play a role in the mediation of protein-protein interactions. This gene encodes a ligand of the WW domain of the Yes kinase-associated protein. Readthrough transcription of the neighboring upstream gene, which encodes INO80 complex subunit B, into this gene generates a non-coding transcript. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T C 5: 138,645,821 (GRCm39) C569R probably damaging Het
Acadsb T A 7: 131,031,784 (GRCm39) W207R probably damaging Het
Apbb2 C T 5: 66,608,810 (GRCm39) probably null Het
Atad2b T C 12: 5,007,558 (GRCm39) V415A probably damaging Het
Ccdc150 G A 1: 54,303,116 (GRCm39) probably null Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Chd7 A G 4: 8,828,274 (GRCm39) T1072A probably damaging Het
Depdc1b T A 13: 108,460,580 (GRCm39) F63L probably damaging Het
Dnah2 C T 11: 69,349,344 (GRCm39) V2431M probably damaging Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Flnc A G 6: 29,458,882 (GRCm39) E2421G probably damaging Het
Kcna4 T C 2: 107,126,894 (GRCm39) S543P probably damaging Het
Lrrc30 T A 17: 67,939,681 (GRCm39) probably benign Het
Msh6 T A 17: 88,294,319 (GRCm39) S1025T probably damaging Het
Ndrg3 C G 2: 156,782,294 (GRCm39) A191P probably damaging Het
Or1o4 T C 17: 37,590,666 (GRCm39) Y215C probably damaging Het
Or5aq7 C T 2: 86,938,330 (GRCm39) V134I probably benign Het
Or5p5 A G 7: 107,413,961 (GRCm39) T57A possibly damaging Het
Pls1 A G 9: 95,636,798 (GRCm39) I558T probably damaging Het
Rnf34 T C 5: 122,999,839 (GRCm39) F32L probably benign Het
Serpinb9g A T 13: 33,676,834 (GRCm39) L205F probably benign Het
Tbc1d24 T A 17: 24,427,303 (GRCm39) I220F probably damaging Het
Thsd7b A T 1: 129,744,385 (GRCm39) T758S probably benign Het
Trak1 A G 9: 121,282,562 (GRCm39) probably null Het
Ttn G C 2: 76,556,407 (GRCm39) F30199L probably benign Het
Ttn T G 2: 76,556,406 (GRCm39) S30200R probably damaging Het
Uggt1 T C 1: 36,202,447 (GRCm39) D1050G possibly damaging Het
Veph1 T A 3: 66,033,312 (GRCm39) S605C probably benign Het
Ythdc2 C A 18: 45,019,469 (GRCm39) Q1413K possibly damaging Het
Other mutations in Wbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00846:Wbp1 APN 6 83,097,022 (GRCm39) missense probably damaging 1.00
R0669:Wbp1 UTSW 6 83,096,326 (GRCm39) missense possibly damaging 0.85
R1269:Wbp1 UTSW 6 83,096,584 (GRCm39) missense probably benign 0.01
R5610:Wbp1 UTSW 6 83,097,216 (GRCm39) missense probably damaging 1.00
R6091:Wbp1 UTSW 6 83,096,468 (GRCm39) missense probably benign 0.43
R7799:Wbp1 UTSW 6 83,097,176 (GRCm39) nonsense probably null
R8515:Wbp1 UTSW 6 83,096,866 (GRCm39) missense probably damaging 1.00
R8885:Wbp1 UTSW 6 83,096,913 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GCTCTGAAATGTCTGCCAGTG -3'
(R):5'- AGGGATCCATCTCAGGTTCC -3'

Sequencing Primer
(F):5'- CTGAAATGTCTGCCAGTGGAAGTG -3'
(R):5'- GGATCCATCTCAGGTTCCATGCC -3'
Posted On 2018-05-04