Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00945:Wwp1'

27282

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00945

Quality Score

Status

Chromosome

Chromosomal Location

19608303-19708993 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 19640193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035982] [ENSMUST00000108246] [ENSMUST00000108250]

AlphaFold

Q8BZZ3

Predicted Effect

probably null
Transcript: ENSMUST00000035982

SMART Domains

Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058

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 null
Transcript: ENSMUST00000108246

SMART Domains

Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	A	G	5: 35,994,364 (GRCm39)	I101V	probably damaging	Het
Aldh5a1	A	G	13: 25,110,141 (GRCm39)		probably benign	Het
Arhgef28	A	C	13: 98,103,907 (GRCm39)	L728R	possibly damaging	Het
Dct	G	A	14: 118,277,916 (GRCm39)	T218M	probably damaging	Het
Hcn2	C	T	10: 79,569,637 (GRCm39)	R546*	probably null	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Lap3	A	G	5: 45,662,115 (GRCm39)		probably null	Het
Mettl16	C	T	11: 74,708,192 (GRCm39)	H464Y	probably benign	Het
Myh13	G	A	11: 67,238,832 (GRCm39)	R725Q	probably null	Het
Nf1	T	C	11: 79,360,629 (GRCm39)	F1436L	probably damaging	Het
Nod1	C	T	6: 54,921,571 (GRCm39)		probably null	Het
Or6c215	A	T	10: 129,637,776 (GRCm39)	V206E	possibly damaging	Het
Pde5a	T	A	3: 122,629,291 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,616,391 (GRCm39)	Y168C	probably benign	Het
Plod2	A	G	9: 92,466,549 (GRCm39)	I170V	probably benign	Het
Pop5	A	G	5: 115,378,618 (GRCm39)		probably benign	Het
Sdk1	G	T	5: 142,070,368 (GRCm39)		probably null	Het
Sema3f	G	A	9: 107,562,721 (GRCm39)	S420L	probably benign	Het
Shtn1	C	T	19: 59,007,384 (GRCm39)	E289K	possibly damaging	Het
Smarca1	A	T	X: 46,947,178 (GRCm39)	Y526*	probably null	Het
Sptan1	T	C	2: 29,890,083 (GRCm39)		probably benign	Het
St7l	C	A	3: 104,833,798 (GRCm39)	H486Q	probably damaging	Het
Tcte1	C	A	17: 45,852,115 (GRCm39)	F449L	probably benign	Het
Tmem131	A	G	1: 36,866,086 (GRCm39)		probably benign	Het
Trim46	A	G	3: 89,151,725 (GRCm39)		probably benign	Het
Zc3h13	A	G	14: 75,567,587 (GRCm39)	D960G	probably damaging	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
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
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

Posted On

2013-04-17