Incidental Mutation 'IGL01960:Wwp1'
ID182399
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 #IGL01960
Quality Score
Status
Chromosome4
Chromosomal Location19608303-19708993 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 19662115 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035982] [ENSMUST00000108246]
Predicted Effect probably benign
Transcript: ENSMUST00000035982
SMART Domains Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058

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
SMART Domains Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G A 4: 130,012,384 probably benign Het
Adh7 T C 3: 138,226,282 I219T probably damaging Het
Ankmy1 C A 1: 92,871,663 probably benign Het
Aoc1 A G 6: 48,908,603 I681V probably benign Het
Arfgap3 T C 15: 83,313,557 T333A probably benign Het
Cdc42ep4 A G 11: 113,729,004 V187A probably benign Het
Cyp4f40 G A 17: 32,659,561 G26R probably benign Het
Dnah7b T A 1: 46,124,337 probably benign Het
Dnajb4 T C 3: 152,186,539 E219G probably damaging Het
Dnmt3b A G 2: 153,676,711 K578R possibly damaging Het
Dst A T 1: 34,290,489 D4649V probably damaging Het
Fam20c T C 5: 138,806,320 S391P probably damaging Het
Fbxw10 A T 11: 62,876,756 Y801F probably damaging Het
Frem2 T G 3: 53,522,304 E2775A probably benign Het
Frmd4b A T 6: 97,295,780 S830T possibly damaging Het
Gatad2a T G 8: 69,909,948 S581R possibly damaging Het
Gpcpd1 C T 2: 132,539,898 probably null Het
Igsf10 A G 3: 59,318,737 L2505P probably benign Het
Igsf9b A G 9: 27,328,606 D649G possibly damaging Het
Impact T C 18: 12,974,758 C28R probably benign Het
Ino80d G T 1: 63,058,147 Q863K probably damaging Het
Iqsec1 A C 6: 90,676,780 M675R probably damaging Het
Kcng3 C T 17: 83,587,850 V396I probably damaging Het
Klhl18 A T 9: 110,450,746 D60E probably benign Het
Krtap7-1 C T 16: 89,508,268 probably benign Het
Mal2 T A 15: 54,598,545 Y145* probably null Het
Mcpt8 A T 14: 56,082,407 probably null Het
Mdn1 A G 4: 32,758,393 D4810G probably benign Het
Med24 T C 11: 98,707,542 I766V probably benign Het
Mga G A 2: 119,938,657 V1477M probably damaging Het
Mybph T A 1: 134,193,925 V112E probably benign Het
Nmur2 A T 11: 56,040,511 S125T probably damaging Het
Olfr322 T C 11: 58,665,865 V102A probably benign Het
Olfr805 A G 10: 129,722,887 I219T probably damaging Het
Olfr907 A T 9: 38,498,707 I13F probably damaging Het
Otop3 A G 11: 115,340,969 N220S probably damaging Het
Pacsin1 T G 17: 27,704,835 probably null Het
Pcsk1 A G 13: 75,093,167 R89G possibly damaging Het
Pde2a A T 7: 101,504,740 E509V probably benign Het
Pex1 T C 5: 3,627,588 probably benign Het
Ppp4r4 T G 12: 103,581,494 probably benign Het
Pygb T A 2: 150,813,483 N251K probably benign Het
Rsf1 C T 7: 97,661,575 T504I probably benign Het
Slc5a11 A T 7: 123,269,940 T584S probably benign Het
Smad2 G A 18: 76,262,484 probably benign Het
Srsf6 G A 2: 162,933,754 R161H probably damaging Het
Tbx3 T A 5: 119,682,643 S573T probably benign Het
Tecpr1 C T 5: 144,216,919 R172Q probably benign Het
Ttn T A 2: 76,788,900 probably null Het
Ubr2 T C 17: 46,973,967 M542V probably benign Het
Unc80 T C 1: 66,608,500 probably benign Het
Vmn1r222 T A 13: 23,232,145 K299N probably benign Het
Zbtb46 T A 2: 181,424,135 H74L possibly damaging Het
Zfp106 A G 2: 120,539,322 L73S probably benign Het
Zfp106 A T 2: 120,524,043 L1416I probably damaging Het
Zfp667 G A 7: 6,305,337 G335R 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
IGL02969:Wwp1 APN 4 19623200 missense probably damaging 1.00
IGL03137:Wwp1 APN 4 19678408 missense probably damaging 0.97
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 On2014-05-07