Incidental Mutation 'R5847:Wwp1'
ID 453657
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 044065-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5847 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 19608303-19708993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19662174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 140 (D140E)
Ref Sequence ENSEMBL: ENSMUSP00000103881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035982] [ENSMUST00000108246]
AlphaFold Q8BZZ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000035982
AA Change: D140E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: D140E

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 possibly damaging
Transcript: ENSMUST00000108246
AA Change: D140E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: D140E

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
Meta Mutation Damage Score 0.0977 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (62/62)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,302,521 (GRCm39) Y964F probably damaging Het
Akap3 T A 6: 126,842,521 (GRCm39) L380Q probably damaging Het
Alpk1 A G 3: 127,473,723 (GRCm39) I760T probably benign Het
Aoc1l2 T A 6: 48,910,412 (GRCm39) F701L probably damaging Het
Arhgap20 G A 9: 51,736,276 (GRCm39) probably benign Het
Cacng3 T C 7: 122,361,532 (GRCm39) F113S possibly damaging Het
Ccdc158 G T 5: 92,775,339 (GRCm39) N955K probably benign Het
Ccdc63 T A 5: 122,254,908 (GRCm39) M368L possibly damaging Het
Cnot2 T C 10: 116,363,851 (GRCm39) T18A probably damaging Het
Ctnna2 A T 6: 76,950,820 (GRCm39) D550E possibly damaging Het
Cyp2c37 C T 19: 40,000,176 (GRCm39) R433W probably damaging Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dek A G 13: 47,255,077 (GRCm39) probably benign Het
Dnah9 CAGTTGCTTAAA CA 11: 65,986,066 (GRCm39) probably null Het
Dock4 A G 12: 40,671,250 (GRCm39) Y23C probably damaging Het
Edar T A 10: 58,439,001 (GRCm39) S344C probably damaging Het
Epg5 T C 18: 78,073,270 (GRCm39) V2431A probably benign Het
Evc2 C T 5: 37,562,068 (GRCm39) probably benign Het
Idh3b A T 2: 130,125,948 (GRCm39) D41E probably benign Het
Igkv8-24 A T 6: 70,193,956 (GRCm39) V84D probably damaging Het
Iqca1l A T 5: 24,749,164 (GRCm39) L778Q probably benign Het
Mgam T C 6: 40,660,989 (GRCm39) I1118T probably benign Het
Mtmr3 A G 11: 4,432,925 (GRCm39) V1116A probably damaging Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ncr1 A T 7: 4,347,573 (GRCm39) D246V probably benign Het
Nphp3 A G 9: 103,880,236 (GRCm39) E86G probably damaging Het
Or2l13b A T 16: 19,349,076 (GRCm39) V198E probably damaging Het
Or52e5 A T 7: 104,719,064 (GRCm39) Y130F probably benign Het
Or8h7 A C 2: 86,720,676 (GRCm39) V281G probably damaging Het
Pbld1 A T 10: 62,912,193 (GRCm39) I275L probably benign Het
Pde12 A G 14: 26,386,786 (GRCm39) V574A possibly damaging Het
Pdxk G T 10: 78,280,872 (GRCm39) D189E probably benign Het
Pkhd1 C A 1: 20,444,960 (GRCm39) E2276* probably null Het
Ppp1r10 A G 17: 36,237,739 (GRCm39) N237S possibly damaging Het
Rheb T A 5: 25,012,067 (GRCm39) Y131F probably benign Het
Rpgrip1l T C 8: 92,031,613 (GRCm39) D88G probably damaging Het
Scgb2b33 T C 7: 32,812,239 (GRCm39) noncoding transcript Het
Snx9 C A 17: 5,974,896 (GRCm39) N461K possibly damaging Het
Tbc1d2b C A 9: 90,091,777 (GRCm39) V842F probably damaging Het
Tgfbi G A 13: 56,784,418 (GRCm39) E615K possibly damaging Het
Tmem51 A G 4: 141,759,346 (GRCm39) M134T probably damaging Het
Tox4 A G 14: 52,524,241 (GRCm39) D125G probably damaging Het
Trappc3 A T 4: 126,167,771 (GRCm39) N110I probably damaging Het
Trim11 T A 11: 58,881,419 (GRCm39) D437E probably damaging Het
Ttc23l T C 15: 10,537,682 (GRCm39) N196S probably benign Het
Wnk1 C A 6: 119,969,369 (GRCm39) G362V probably damaging Het
Wwc1 A G 11: 35,758,153 (GRCm39) F731S probably damaging Het
Zfp24 G A 18: 24,151,095 (GRCm39) P17L possibly damaging Het
Zfp354b T C 11: 50,814,043 (GRCm39) E294G probably damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zfp868 T C 8: 70,064,303 (GRCm39) H344R 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
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'- TTGTTGCAGGGTCTCCATTC -3'
(R):5'- TTACTTCTAAATGCTGCCGTCAAG -3'

Sequencing Primer
(F):5'- CAGGGTCTCCATTCTCATGTAAGG -3'
(R):5'- GCTGCCGTCAAGTTCTGAAATACAG -3'
Posted On 2017-02-10