Mutagenetix > Incidental Mutation

Incidental Mutation 'R3761:Wwp1'

270530

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 #

R3761 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19608303-19708993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19631085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 649 (H649Q)

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: H649Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: H649Q

Domain	Start	End	E-Value	Type
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: H649Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: H649Q

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	31	48	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	A	G	9: 110,727,202 (GRCm39)	T923A	probably damaging	Het
Ccdc91	A	T	6: 147,464,200 (GRCm39)	D216V	unknown	Het
Clstn3	A	G	6: 124,434,835 (GRCm39)	V360A	possibly damaging	Het
Ct45a	C	T	X: 55,590,568 (GRCm39)	V78I	probably benign	Het
Ehmt2	A	G	17: 35,132,707 (GRCm39)	I1235V	probably damaging	Het
Eif3e	C	T	15: 43,124,480 (GRCm39)	R346H	probably damaging	Het
Esrp2	T	C	8: 106,860,254 (GRCm39)	D301G	probably damaging	Het
Fam174a	G	T	1: 95,241,971 (GRCm39)	V144F	probably damaging	Het
Fbxo31	A	T	8: 122,287,169 (GRCm39)	W135R	possibly damaging	Het
Heatr5b	A	G	17: 79,137,071 (GRCm39)	S150P	probably damaging	Het
Il16	A	G	7: 83,300,093 (GRCm39)	L400S	possibly damaging	Het
Or10d1c	A	T	9: 38,893,662 (GRCm39)	I226N	possibly damaging	Het
Ryr3	A	G	2: 112,585,258 (GRCm39)	F2776S	probably benign	Het
Sema3d	T	C	5: 12,621,004 (GRCm39)	Y537H	probably damaging	Het
Sh3pxd2b	T	C	11: 32,372,750 (GRCm39)	V639A	probably benign	Het
Slc39a10	A	G	1: 46,851,285 (GRCm39)	V735A	possibly damaging	Het
Slc45a2	T	A	15: 11,012,800 (GRCm39)	Y268N	probably benign	Het
Tmco5	A	G	2: 116,717,787 (GRCm39)		probably null	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het

Other mutations in Wwp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGCTTGTAACTAAGGGAGGATATAG -3'
(R):5'- TGTGCAGAGTTAGCAGGACTG -3'

Sequencing Primer
(F):5'- TATCGGAATTACATGCAGGCC -3'
(R):5'- CCTGCATGTATGTGTATGTGCATGC -3'

Posted On

2015-03-18