Incidental Mutation 'R6955:Wbp4'
ID 541429
Institutional Source Beutler Lab
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 # R6955 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 79697377-79718708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79709800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 145 (I145N)
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: I145N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000022601
Gene: ENSMUSG00000022023
AA Change: I145N

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: I145N

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,244,307 (GRCm39) F2057I probably benign Het
Abl2 A G 1: 156,450,219 (GRCm39) T108A probably damaging Het
Amfr A T 8: 94,727,004 (GRCm39) W70R probably damaging Het
Cacna1h T C 17: 25,607,030 (GRCm39) T963A probably damaging Het
Cdca2 A G 14: 67,952,453 (GRCm39) M1T probably null Het
Chd2 A G 7: 73,125,171 (GRCm39) V62A probably damaging Het
Cpeb4 T A 11: 31,858,864 (GRCm39) L87Q possibly damaging Het
Ddx17 T C 15: 79,414,668 (GRCm39) M500V probably benign Het
Emilin1 T C 5: 31,075,253 (GRCm39) L498P probably damaging Het
Fhod1 C T 8: 106,059,639 (GRCm39) C682Y probably benign Het
Fshr A T 17: 89,292,894 (GRCm39) S595T probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Inf2 T C 12: 112,577,165 (GRCm39) V1003A unknown Het
Itpr3 A G 17: 27,340,441 (GRCm39) E2651G probably damaging Het
Kalrn A G 16: 34,040,506 (GRCm39) W735R probably damaging Het
Kif5b T C 18: 6,211,070 (GRCm39) N798S probably benign Het
Klb T A 5: 65,536,431 (GRCm39) L587* probably null Het
Krt82 T A 15: 101,451,284 (GRCm39) D375V probably damaging Het
Lig4 A T 8: 10,023,384 (GRCm39) V132D probably damaging Het
Lrpprc T C 17: 85,084,417 (GRCm39) I99V probably damaging Het
Ly75 T C 2: 60,158,217 (GRCm39) I1023V possibly damaging Het
Mcam T A 9: 44,050,566 (GRCm39) I286N probably damaging Het
Myh15 G T 16: 48,901,598 (GRCm39) probably null Het
Nup210 T C 6: 91,064,909 (GRCm39) E197G probably damaging Het
Nup93 T A 8: 95,036,301 (GRCm39) Y702N probably damaging Het
Or4p4 T A 2: 88,483,348 (GRCm39) I284N probably damaging Het
Osbpl8 T C 10: 111,105,305 (GRCm39) probably null Het
Pdzd2 A G 15: 12,401,550 (GRCm39) S767P probably damaging Het
Plcd1 A T 9: 118,900,924 (GRCm39) N765K probably benign Het
Poglut2 A T 1: 44,156,257 (GRCm39) L110Q probably damaging Het
Rnf208 T C 2: 25,133,414 (GRCm39) V36A probably benign Het
Rpl5 G A 5: 108,049,912 (GRCm39) R33Q probably benign Het
Selp A T 1: 163,972,478 (GRCm39) I706F possibly damaging Het
Sfmbt1 A G 14: 30,487,991 (GRCm39) probably benign Het
Slc25a39 T C 11: 102,294,344 (GRCm39) I328V probably benign Het
Smc4 G A 3: 68,931,642 (GRCm39) E604K possibly damaging Het
Sorcs3 A G 19: 48,737,782 (GRCm39) Y733C possibly damaging Het
Ttll5 T C 12: 85,911,353 (GRCm39) V237A possibly damaging Het
Uimc1 T A 13: 55,188,359 (GRCm39) R567W possibly damaging Het
Xbp1 A G 11: 5,472,018 (GRCm39) E32G probably null Het
Other mutations in Wbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01550:Wbp4 APN 14 79,703,774 (GRCm39) missense probably benign 0.05
IGL02859:Wbp4 APN 14 79,708,129 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGTTACGGTTTCTCACTGCTTAAC -3'
(R):5'- TCTAGACATTTCAGAGCCAACTG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- TGTATCACCAGTCATCAGCACTG -3'
Posted On 2018-11-28