Incidental Mutation 'R7450:Wwp1'
ID 577627
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7450 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 19608303-19708993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19640016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 509 (Y509H)
Ref Sequence ENSEMBL: ENSMUSP00000103881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035982] [ENSMUST00000108246] [ENSMUST00000108250]
AlphaFold Q8BZZ3
Predicted Effect probably damaging
Transcript: ENSMUST00000035982
AA Change: Y509H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: Y509H

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 damaging
Transcript: ENSMUST00000108246
AA Change: Y509H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: Y509H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T A 5: 113,331,977 (GRCm39) R746W possibly damaging Het
Abcc2 T C 19: 43,810,478 (GRCm39) L925P probably damaging Het
Abcc3 A T 11: 94,252,521 (GRCm39) H787Q probably damaging Het
Acly A T 11: 100,370,101 (GRCm39) V987E probably damaging Het
Afg2a T C 3: 37,510,934 (GRCm39) L697S probably damaging Het
Cacna1b A T 2: 24,525,147 (GRCm39) Y1676* probably null Het
Ccdc168 A G 1: 44,097,933 (GRCm39) V1055A probably benign Het
Ccdc175 T A 12: 72,202,447 (GRCm39) I283F possibly damaging Het
Cfap46 A T 7: 139,197,353 (GRCm39) F2173I unknown Het
Cln6 G A 9: 62,757,912 (GRCm39) E224K probably damaging Het
Cyp1a1 T A 9: 57,609,415 (GRCm39) L372Q probably damaging Het
Dnah8 T A 17: 31,006,165 (GRCm39) I3694N probably damaging Het
Dnal1 T C 12: 84,171,297 (GRCm39) Y31H probably benign Het
Eid3 T A 10: 82,702,737 (GRCm39) M66K probably benign Het
Epo T A 5: 137,481,497 (GRCm39) E143D probably damaging Het
Fbxo25 C A 8: 13,981,235 (GRCm39) N236K probably benign Het
Fsip2 A G 2: 82,782,024 (GRCm39) I266V probably benign Het
Galnt6 T C 15: 100,595,696 (GRCm39) Y444C probably damaging Het
Gna11 T C 10: 81,368,356 (GRCm39) Y160C Het
Hectd4 A T 5: 121,419,995 (GRCm39) T647S probably benign Het
Hgd T C 16: 37,444,686 (GRCm39) V316A possibly damaging Het
Idh3a T C 9: 54,503,367 (GRCm39) V142A probably damaging Het
Il3ra T A 14: 14,351,090 (GRCm38) I297N probably benign Het
Kcnj5 T G 9: 32,233,491 (GRCm39) I275L possibly damaging Het
Kdm7a A T 6: 39,120,185 (GRCm39) L928Q probably damaging Het
Kmo A G 1: 175,466,666 (GRCm39) I75V probably benign Het
Krtap1-3 C A 11: 99,481,697 (GRCm39) C150F unknown Het
Lingo3 C A 10: 80,670,671 (GRCm39) E420* probably null Het
Lrrc37a A G 11: 103,389,152 (GRCm39) V2091A probably benign Het
N4bp2 T A 5: 65,982,643 (GRCm39) Y1632* probably null Het
Nlrp1a C A 11: 70,998,484 (GRCm39) G905V probably damaging Het
Nlrp9c T A 7: 26,064,364 (GRCm39) E988V probably benign Het
Nol8 T G 13: 49,813,491 (GRCm39) H179Q probably benign Het
Notch3 G A 17: 32,360,365 (GRCm39) P1522L possibly damaging Het
Nup210l T C 3: 90,022,495 (GRCm39) probably null Het
Oas1b T A 5: 120,959,321 (GRCm39) Y234* probably null Het
Or10al7 T C 17: 38,366,000 (GRCm39) I152M probably benign Het
Or12d17 C A 17: 37,777,507 (GRCm39) Q137K probably benign Het
Or12e14 A C 2: 87,676,803 (GRCm39) K63Q probably damaging Het
Or13c9 T A 4: 52,936,113 (GRCm39) K57* probably null Het
Or6c1b A C 10: 129,273,298 (GRCm39) M206L probably benign Het
Pag1 T C 3: 9,764,599 (GRCm39) T185A probably damaging Het
Palmd A T 3: 116,721,292 (GRCm39) S100T probably damaging Het
Papln C A 12: 83,826,945 (GRCm39) A690E probably benign Het
Pcdhga7 C T 18: 37,849,079 (GRCm39) T362M probably benign Het
Pmpcb T A 5: 21,951,983 (GRCm39) V286E possibly damaging Het
Pon3 T C 6: 5,236,940 (GRCm39) I142M possibly damaging Het
Prdx6 A G 1: 161,069,386 (GRCm39) S194P probably benign Het
Rapgef2 T C 3: 79,080,366 (GRCm39) E112G probably benign Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rhox4d G A X: 36,700,645 (GRCm39) G191E unknown Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rps6kb1 T A 11: 86,393,657 (GRCm39) E491V probably benign Het
Sema3d C T 5: 12,634,901 (GRCm39) Q656* probably null Het
Shisa6 A T 11: 66,108,832 (GRCm39) D348E probably benign Het
Slc16a7 G T 10: 125,063,920 (GRCm39) H472Q probably benign Het
Slc49a4 T C 16: 35,589,344 (GRCm39) I90V possibly damaging Het
Slc9a2 A G 1: 40,720,995 (GRCm39) probably benign Het
Smad4 A G 18: 73,810,924 (GRCm39) V20A probably damaging Het
Sstr3 G A 15: 78,424,043 (GRCm39) R235W probably damaging Het
Svep1 T A 4: 58,064,248 (GRCm39) H3245L possibly damaging Het
Tra2a G A 6: 49,227,919 (GRCm39) R70* probably null Het
Trav7-4 G T 14: 53,698,924 (GRCm39) V24L probably benign Het
Tsc2 C A 17: 24,819,005 (GRCm39) S1278I probably damaging Het
Ubtf A G 11: 102,197,475 (GRCm39) S726P unknown Het
Vmn2r42 A T 7: 8,187,220 (GRCm39) Y851N probably benign Het
Xirp2 A C 2: 67,340,159 (GRCm39) Q800P possibly damaging Het
Zc3h7b T C 15: 81,667,281 (GRCm39) F609L probably benign Het
Zdhhc8 G T 16: 18,043,035 (GRCm39) H388Q probably benign Het
Zfp1004 A G 2: 150,035,046 (GRCm39) T456A probably benign Het
Zfp644 T C 5: 106,786,392 (GRCm39) K52E probably benign Het
Zfp82 T G 7: 29,756,320 (GRCm39) E254A probably damaging 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
R2094:Wwp1 UTSW 4 19,650,390 (GRCm39) missense probably benign 0.00
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
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'- AGCGTAACAGGGACCTGATG -3'
(R):5'- TCCAAGAACTCAAGGGTATGTG -3'

Sequencing Primer
(F):5'- TGGCATGCAGTAACTATTACACAC -3'
(R):5'- CTCAAGGGTATGTGTAAACTACAGTC -3'
Posted On 2019-10-07