Incidental Mutation 'R2094:Wwp1'
ID 231963
Institutional Source Beutler Lab
Gene Symbol Wwp1
Ensembl Gene ENSMUSG00000041058
Gene Name WW domain containing E3 ubiquitin protein ligase 1
Synonyms AIP5, 8030445B08Rik, SDRP1, Tiul1
MMRRC Submission 040098-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2094 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 19608303-19708993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19650390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 259 (T259A)
Ref Sequence ENSEMBL: ENSMUSP00000103881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035982] [ENSMUST00000108246] [ENSMUST00000108250]
AlphaFold Q8BZZ3
Predicted Effect probably benign
Transcript: ENSMUST00000035982
AA Change: T259A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: T259A

DomainStartEndE-ValueType
C2 19 113 4.19e-9 SMART
low complexity region 221 232 N/A INTRINSIC
low complexity region 266 286 N/A INTRINSIC
WW 346 378 1.03e-14 SMART
WW 379 410 7.43e-12 SMART
WW 453 485 1.43e-13 SMART
WW 493 525 6.82e-11 SMART
HECTc 582 918 4.83e-177 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108246
AA Change: T259A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: T259A

DomainStartEndE-ValueType
C2 19 113 4.19e-9 SMART
low complexity region 221 232 N/A INTRINSIC
low complexity region 266 286 N/A INTRINSIC
WW 346 378 1.03e-14 SMART
WW 379 410 7.43e-12 SMART
WW 453 485 1.43e-13 SMART
WW 493 525 6.82e-11 SMART
HECTc 582 918 4.83e-177 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108250
SMART Domains Protein: ENSMUSP00000103885
Gene: ENSMUSG00000078772

DomainStartEndE-ValueType
low complexity region 31 48 N/A INTRINSIC
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased osteoblast differentiation of bone marrow-derived stromal cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,857,154 (GRCm39) I169V probably benign Het
Arrdc5 A G 17: 56,604,856 (GRCm39) S144P probably benign Het
Astn1 A G 1: 158,495,179 (GRCm39) M92V probably benign Het
Atg5 A G 10: 44,195,544 (GRCm39) I189M probably damaging Het
Atmin A G 8: 117,684,277 (GRCm39) T646A probably damaging Het
Atp1a2 G A 1: 172,115,000 (GRCm39) R262W probably damaging Het
Atp6v1g2 A G 17: 35,455,785 (GRCm39) K16E probably damaging Het
Bex6 G A 16: 32,005,278 (GRCm39) E29K possibly damaging Het
Casd1 A G 6: 4,608,705 (GRCm39) Y101C probably damaging Het
Ccdc168 A C 1: 44,098,890 (GRCm39) I736S probably benign Het
Cdx1 T C 18: 61,168,984 (GRCm39) D70G possibly damaging Het
Cebpz T C 17: 79,242,983 (GRCm39) T224A probably benign Het
Cep170b T C 12: 112,702,164 (GRCm39) V319A possibly damaging Het
Chrna2 C T 14: 66,386,912 (GRCm39) R353W possibly damaging Het
Chst5 A T 8: 112,617,176 (GRCm39) V148E probably benign Het
Clhc1 T A 11: 29,507,771 (GRCm39) W162R probably benign Het
Csmd1 T A 8: 16,129,992 (GRCm39) Q1710L probably damaging Het
Ddb1 A C 19: 10,590,300 (GRCm39) M276L probably benign Het
Dot1l C T 10: 80,621,712 (GRCm39) R455C probably damaging Het
Dync2h1 A G 9: 7,148,735 (GRCm39) V903A probably benign Het
Eno1b T C 18: 48,180,542 (GRCm39) V240A possibly damaging Het
Erich1 T G 8: 14,140,527 (GRCm39) probably benign Het
Ermp1 A C 19: 29,617,328 (GRCm39) S227A probably benign Het
Etv1 C A 12: 38,885,115 (GRCm39) P143Q probably null Het
Gimap8 A T 6: 48,627,502 (GRCm39) I159F probably benign Het
Gpr4 G A 7: 18,956,503 (GRCm39) V142M possibly damaging Het
Gucy1a1 C T 3: 82,020,639 (GRCm39) C86Y probably benign Het
Ifngr2 T G 16: 91,358,667 (GRCm39) probably null Het
Insrr A T 3: 87,710,488 (GRCm39) N398I probably damaging Het
Iws1 A G 18: 32,217,719 (GRCm39) E441G probably damaging Het
Larp7-ps A G 4: 92,079,893 (GRCm39) S32P probably damaging Het
Megf10 A T 18: 57,414,785 (GRCm39) K732* probably null Het
Mprip T A 11: 59,640,334 (GRCm39) probably benign Het
Mrgprb8 T C 7: 48,038,953 (GRCm39) V208A probably benign Het
Msc G C 1: 14,825,908 (GRCm39) P22R probably benign Het
Opcml G A 9: 28,812,886 (GRCm39) E193K probably damaging Het
Or4k15b A T 14: 50,272,171 (GRCm39) S230T probably damaging Het
Oxsr1 A C 9: 119,123,560 (GRCm39) H71Q probably benign Het
Pkp2 T A 16: 16,064,831 (GRCm39) W452R probably damaging Het
Prrc2b C T 2: 32,072,582 (GRCm39) T20I probably damaging Het
Rasgrp3 T C 17: 75,810,136 (GRCm39) S279P probably damaging Het
Rtl1 T A 12: 109,557,831 (GRCm39) D1336V unknown Het
Serpina3m G T 12: 104,355,529 (GRCm39) K65N probably benign Het
Serpine2 A G 1: 79,788,411 (GRCm39) V182A probably damaging Het
Slc10a1 A G 12: 81,002,822 (GRCm39) V272A possibly damaging Het
Slc25a29 A T 12: 108,793,358 (GRCm39) N73K probably damaging Het
Slit1 G A 19: 41,594,819 (GRCm39) R1184W probably damaging Het
Srrm2 T C 17: 24,031,403 (GRCm39) probably benign Het
Stk11ip A G 1: 75,502,165 (GRCm39) probably benign Het
Tcerg1 A G 18: 42,697,210 (GRCm39) K767R possibly damaging Het
Tmem82 T C 4: 141,343,598 (GRCm39) K224R probably benign Het
Tmprss11g A G 5: 86,647,415 (GRCm39) L41S probably damaging Het
Trim42 T C 9: 97,248,150 (GRCm39) N182S probably benign Het
Ttn T C 2: 76,660,432 (GRCm39) T7430A probably benign Het
Other mutations in Wwp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Wwp1 APN 4 19,650,360 (GRCm39) missense probably benign
IGL00945:Wwp1 APN 4 19,640,193 (GRCm39) critical splice donor site probably null
IGL01338:Wwp1 APN 4 19,627,636 (GRCm39) missense probably damaging 1.00
IGL01960:Wwp1 APN 4 19,662,115 (GRCm39) splice site probably benign
IGL02969:Wwp1 APN 4 19,623,200 (GRCm39) missense probably damaging 1.00
IGL03137:Wwp1 APN 4 19,678,408 (GRCm39) missense probably damaging 0.97
BB008:Wwp1 UTSW 4 19,650,114 (GRCm39) critical splice donor site probably null
BB018:Wwp1 UTSW 4 19,650,114 (GRCm39) critical splice donor site probably null
PIT4243001:Wwp1 UTSW 4 19,638,631 (GRCm39) missense probably damaging 0.99
R0035:Wwp1 UTSW 4 19,631,116 (GRCm39) missense probably damaging 1.00
R0109:Wwp1 UTSW 4 19,641,725 (GRCm39) intron probably benign
R0240:Wwp1 UTSW 4 19,641,734 (GRCm39) splice site probably null
R0240:Wwp1 UTSW 4 19,641,734 (GRCm39) splice site probably null
R0391:Wwp1 UTSW 4 19,627,911 (GRCm39) missense probably damaging 1.00
R0464:Wwp1 UTSW 4 19,638,763 (GRCm39) intron probably benign
R1604:Wwp1 UTSW 4 19,659,709 (GRCm39) missense probably benign
R1716:Wwp1 UTSW 4 19,659,698 (GRCm39) missense probably benign 0.00
R1778:Wwp1 UTSW 4 19,627,892 (GRCm39) nonsense probably null
R1832:Wwp1 UTSW 4 19,650,197 (GRCm39) missense probably benign 0.33
R2073:Wwp1 UTSW 4 19,662,181 (GRCm39) missense possibly damaging 0.89
R2228:Wwp1 UTSW 4 19,641,745 (GRCm39) missense probably damaging 1.00
R2229:Wwp1 UTSW 4 19,641,745 (GRCm39) missense probably damaging 1.00
R2267:Wwp1 UTSW 4 19,638,618 (GRCm39) missense probably damaging 1.00
R2334:Wwp1 UTSW 4 19,662,032 (GRCm39) missense probably benign 0.07
R2349:Wwp1 UTSW 4 19,638,644 (GRCm39) missense possibly damaging 0.72
R3761:Wwp1 UTSW 4 19,631,085 (GRCm39) missense probably damaging 1.00
R4062:Wwp1 UTSW 4 19,638,644 (GRCm39) missense possibly damaging 0.72
R4731:Wwp1 UTSW 4 19,661,990 (GRCm39) missense probably benign 0.00
R4732:Wwp1 UTSW 4 19,661,990 (GRCm39) missense probably benign 0.00
R4733:Wwp1 UTSW 4 19,661,990 (GRCm39) missense probably benign 0.00
R4838:Wwp1 UTSW 4 19,662,143 (GRCm39) missense probably benign 0.31
R4936:Wwp1 UTSW 4 19,638,804 (GRCm39) missense probably damaging 0.96
R5262:Wwp1 UTSW 4 19,631,057 (GRCm39) missense probably damaging 1.00
R5340:Wwp1 UTSW 4 19,638,773 (GRCm39) critical splice donor site probably null
R5847:Wwp1 UTSW 4 19,662,174 (GRCm39) missense possibly damaging 0.95
R6492:Wwp1 UTSW 4 19,650,299 (GRCm39) missense possibly damaging 0.94
R6602:Wwp1 UTSW 4 19,641,816 (GRCm39) missense probably damaging 1.00
R6628:Wwp1 UTSW 4 19,661,963 (GRCm39) splice site probably null
R7017:Wwp1 UTSW 4 19,623,124 (GRCm39) missense probably damaging 1.00
R7195:Wwp1 UTSW 4 19,627,908 (GRCm39) missense possibly damaging 0.84
R7276:Wwp1 UTSW 4 19,611,782 (GRCm39) missense probably damaging 1.00
R7450:Wwp1 UTSW 4 19,640,016 (GRCm39) missense probably damaging 0.99
R7488:Wwp1 UTSW 4 19,627,660 (GRCm39) missense probably damaging 0.99
R7617:Wwp1 UTSW 4 19,662,188 (GRCm39) missense probably benign 0.00
R7707:Wwp1 UTSW 4 19,627,645 (GRCm39) missense probably benign 0.31
R7812:Wwp1 UTSW 4 19,639,991 (GRCm39) missense probably damaging 0.99
R7864:Wwp1 UTSW 4 19,635,328 (GRCm39) missense probably damaging 1.00
R7931:Wwp1 UTSW 4 19,650,114 (GRCm39) critical splice donor site probably null
R8006:Wwp1 UTSW 4 19,650,174 (GRCm39) missense probably benign
R8851:Wwp1 UTSW 4 19,643,437 (GRCm39) missense probably null 1.00
R8910:Wwp1 UTSW 4 19,627,741 (GRCm39) missense possibly damaging 0.70
R9020:Wwp1 UTSW 4 19,650,282 (GRCm39) missense probably benign
R9417:Wwp1 UTSW 4 19,662,215 (GRCm39) missense possibly damaging 0.67
R9736:Wwp1 UTSW 4 19,631,202 (GRCm39) missense probably damaging 0.99
X0018:Wwp1 UTSW 4 19,640,261 (GRCm39) missense probably benign 0.41
X0062:Wwp1 UTSW 4 19,638,794 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- TCAGAGTCAGGGTCTATGAGG -3'
(R):5'- GTTTTGCTTTGAGTTAGCTACCAC -3'

Sequencing Primer
(F):5'- TCAGGGTCTATGAGGCTCCGAG -3'
(R):5'- CCTAATGTTGGTGTCTCTTTGC -3'
Posted On 2014-09-18