Incidental Mutation 'IGL03137:Wwp1'
ID410578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wwp1
Ensembl Gene ENSMUSG00000041058
Gene NameWW domain containing E3 ubiquitin protein ligase 1
SynonymsTiul1, SDRP1, 8030445B08Rik, AIP5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03137
Quality Score
Status
Chromosome4
Chromosomal Location19608303-19708993 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 19678408 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 3 (T3S)
Ref Sequence ENSEMBL: ENSMUSP00000103881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035982] [ENSMUST00000108246]
Predicted Effect probably damaging
Transcript: ENSMUST00000035982
AA Change: T3S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: T3S

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: T3S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: T3S

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
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 37,034,602 M569K probably damaging Het
AI481877 G T 4: 59,094,162 F187L probably benign Het
Ankub1 T C 3: 57,690,357 D64G probably damaging Het
Apobec2 C T 17: 48,423,275 W121* probably null Het
Arid2 A G 15: 96,371,318 N1104S probably benign Het
Brap T C 5: 121,665,093 probably benign Het
Cilp A C 9: 65,278,168 N515T probably benign Het
Cpeb2 T A 5: 43,261,724 probably benign Het
Creb1 C T 1: 64,576,215 T242I possibly damaging Het
Ddx60 T C 8: 61,988,083 V1062A possibly damaging Het
Dock8 A G 19: 25,155,948 E1153G probably benign Het
Gk5 A G 9: 96,176,292 probably benign Het
Gm5478 G T 15: 101,644,382 N60K probably benign Het
Hmcn2 T A 2: 31,362,230 V904D probably damaging Het
Hnmt T A 2: 24,048,739 H29L probably damaging Het
Hsf1 A G 15: 76,496,449 probably benign Het
Igkv1-122 C A 6: 68,017,416 T96K probably damaging Het
Iyd T C 10: 3,551,987 I211T probably damaging Het
Kcnn1 G T 8: 70,850,737 H34N probably damaging Het
Krtap5-3 G T 7: 142,202,209 probably benign Het
Map3k19 C T 1: 127,824,315 R433K probably benign Het
Mss51 A C 14: 20,487,132 C89W probably damaging Het
Myh9 A T 15: 77,791,089 I276N probably damaging Het
Myof T C 19: 37,974,889 E420G probably damaging Het
Nfatc2ip C A 7: 126,390,568 V215L possibly damaging Het
Olfr1113 A T 2: 87,213,156 Y88F probably benign Het
Olfr631 T C 7: 103,929,594 M257T probably benign Het
Olfr73 G A 2: 88,034,410 A243V probably benign Het
Pcdhb4 T C 18: 37,308,516 I293T probably damaging Het
Pdcd6ip A G 9: 113,657,145 S729P possibly damaging Het
Pick1 C A 15: 79,245,301 H169N possibly damaging Het
Ppp4r4 A C 12: 103,581,384 K212T probably damaging Het
Racgap1 A G 15: 99,628,741 S314P probably damaging Het
Rasef C A 4: 73,734,483 E594* probably null Het
Ryr3 T G 2: 112,910,397 K522Q probably benign Het
Six5 T C 7: 19,097,147 probably benign Het
Slc26a9 G T 1: 131,763,877 E619D probably benign Het
Sqor A G 2: 122,808,071 I412V probably benign Het
Srrt T A 5: 137,296,117 probably benign Het
Sult1e1 C T 5: 87,578,616 R213K probably benign Het
Tmc2 T A 2: 130,240,130 L411H probably damaging Het
Tmem63b T A 17: 45,664,995 N511Y probably damaging Het
Ucp3 T A 7: 100,482,762 probably benign Het
Vmn1r201 A T 13: 22,474,804 I63F probably benign Het
Vps13c G T 9: 67,890,380 L522F probably damaging Het
Zc3hav1 A G 6: 38,332,394 S498P probably benign Het
Other mutations in Wwp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Wwp1 APN 4 19650360 missense probably benign
IGL00945:Wwp1 APN 4 19640193 critical splice donor site probably null
IGL01338:Wwp1 APN 4 19627636 missense probably damaging 1.00
IGL01960:Wwp1 APN 4 19662115 splice site probably benign
IGL02969:Wwp1 APN 4 19623200 missense probably damaging 1.00
PIT4243001:Wwp1 UTSW 4 19638631 missense probably damaging 0.99
R0035:Wwp1 UTSW 4 19631116 missense probably damaging 1.00
R0109:Wwp1 UTSW 4 19641725 intron probably benign
R0240:Wwp1 UTSW 4 19641734 splice site probably null
R0240:Wwp1 UTSW 4 19641734 splice site probably null
R0391:Wwp1 UTSW 4 19627911 missense probably damaging 1.00
R0464:Wwp1 UTSW 4 19638763 intron probably benign
R1604:Wwp1 UTSW 4 19659709 missense probably benign
R1716:Wwp1 UTSW 4 19659698 missense probably benign 0.00
R1778:Wwp1 UTSW 4 19627892 nonsense probably null
R1832:Wwp1 UTSW 4 19650197 missense probably benign 0.33
R2073:Wwp1 UTSW 4 19662181 missense possibly damaging 0.89
R2094:Wwp1 UTSW 4 19650390 missense probably benign 0.00
R2228:Wwp1 UTSW 4 19641745 missense probably damaging 1.00
R2229:Wwp1 UTSW 4 19641745 missense probably damaging 1.00
R2267:Wwp1 UTSW 4 19638618 missense probably damaging 1.00
R2334:Wwp1 UTSW 4 19662032 missense probably benign 0.07
R2349:Wwp1 UTSW 4 19638644 missense possibly damaging 0.72
R3761:Wwp1 UTSW 4 19631085 missense probably damaging 1.00
R4062:Wwp1 UTSW 4 19638644 missense possibly damaging 0.72
R4731:Wwp1 UTSW 4 19661990 missense probably benign 0.00
R4732:Wwp1 UTSW 4 19661990 missense probably benign 0.00
R4733:Wwp1 UTSW 4 19661990 missense probably benign 0.00
R4838:Wwp1 UTSW 4 19662143 missense probably benign 0.31
R4936:Wwp1 UTSW 4 19638804 missense probably damaging 0.96
R5262:Wwp1 UTSW 4 19631057 missense probably damaging 1.00
R5340:Wwp1 UTSW 4 19638773 critical splice donor site probably null
R5847:Wwp1 UTSW 4 19662174 missense possibly damaging 0.95
R6492:Wwp1 UTSW 4 19650299 missense possibly damaging 0.94
R6602:Wwp1 UTSW 4 19641816 missense probably damaging 1.00
R6628:Wwp1 UTSW 4 19661963 splice site probably null
R7017:Wwp1 UTSW 4 19623124 missense probably damaging 1.00
R7195:Wwp1 UTSW 4 19627908 missense possibly damaging 0.84
R7276:Wwp1 UTSW 4 19611782 missense probably damaging 1.00
X0018:Wwp1 UTSW 4 19640261 missense probably benign 0.41
X0062:Wwp1 UTSW 4 19638794 missense possibly damaging 0.65
Posted On2016-08-02