Mutagenetix > Incidental Mutation

Incidental Mutation 'R0391:Wwp1'

31669

Institutional Source

Beutler Lab

Gene Symbol

Wwp1

Ensembl Gene

ENSMUSG00000041058

Gene Name

WW domain containing E3 ubiquitin protein ligase 1

Synonyms

Tiul1, SDRP1, 8030445B08Rik, AIP5

MMRRC Submission

038597-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0391 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

19608303-19708993 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 19627911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 694 (S694Y)

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: S694Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: S694Y

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: S694Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: S694Y

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

Meta Mutation Damage Score

0.6104

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

97% (97/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,701,177 (GRCm38)		probably benign	Het
Abcc2	G	A	19: 43,821,605 (GRCm38)		probably benign	Het
Abcc8	C	G	7: 46,122,173 (GRCm38)	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,581,200 (GRCm38)	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,277 (GRCm38)	E47G	probably damaging	Het
Apoa1	A	G	9: 46,229,842 (GRCm38)	T79A	probably benign	Het
Atp6v1b1	A	G	6: 83,756,921 (GRCm38)	H378R	possibly damaging	Het
C4b	A	G	17: 34,735,614 (GRCm38)		probably benign	Het
Catsperd	A	T	17: 56,662,821 (GRCm38)	E638D	probably benign	Het
Cckar	C	T	5: 53,706,253 (GRCm38)		probably null	Het
Cfap100	C	T	6: 90,405,339 (GRCm38)		probably benign	Het
Chd1	G	T	17: 15,749,894 (GRCm38)	G970C	probably damaging	Het
Col14a1	A	G	15: 55,446,259 (GRCm38)		probably benign	Het
Col17a1	C	T	19: 47,663,824 (GRCm38)	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,361,725 (GRCm38)	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,303,775 (GRCm38)	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,657,573 (GRCm38)	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921 (GRCm38)	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,994,506 (GRCm38)	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,072,169 (GRCm38)	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,187,214 (GRCm38)	D304G	probably damaging	Het
Dnmt3l	T	C	10: 78,051,916 (GRCm38)		probably benign	Het
Eci1	G	A	17: 24,433,260 (GRCm38)		probably null	Het
Efhc1	A	G	1: 20,960,188 (GRCm38)	Y115C	probably damaging	Het
Ern1	T	A	11: 106,407,178 (GRCm38)	K706*	probably null	Het
Fam129c	T	A	8: 71,602,499 (GRCm38)		probably benign	Het
Ghrl	T	C	6: 113,719,338 (GRCm38)	E31G	probably damaging	Het
Gpr108	A	C	17: 57,243,101 (GRCm38)	V179G	probably benign	Het
Henmt1	A	G	3: 108,958,535 (GRCm38)		probably benign	Het
Ift172	A	G	5: 31,286,667 (GRCm38)	V69A	probably damaging	Het
Il17ra	T	C	6: 120,476,979 (GRCm38)		probably benign	Het
Il17rb	G	T	14: 30,006,155 (GRCm38)		probably null	Het
Il17rb	T	C	14: 30,004,347 (GRCm38)	N95D	probably benign	Het
Iqub	G	A	6: 24,446,155 (GRCm38)	L757F	probably benign	Het
Itpr1	T	C	6: 108,378,167 (GRCm38)	V473A	probably benign	Het
Itpr2	T	G	6: 146,229,773 (GRCm38)	N1978H	probably damaging	Het
Klk1b26	T	A	7: 44,012,727 (GRCm38)	F3Y	probably damaging	Het
Lars	A	G	18: 42,251,363 (GRCm38)	V50A	probably benign	Het
Lax1	G	T	1: 133,680,066 (GRCm38)	H312Q	probably benign	Het
Lctl	T	C	9: 64,122,314 (GRCm38)		probably benign	Het
Lrp2	G	A	2: 69,460,337 (GRCm38)		probably benign	Het
Lrp2	T	A	2: 69,456,858 (GRCm38)	D3745V	probably damaging	Het
Lvrn	A	T	18: 46,850,466 (GRCm38)	H92L	probably benign	Het
March1	A	G	8: 66,418,973 (GRCm38)	T385A	probably damaging	Het
Marf1	C	T	16: 14,142,534 (GRCm38)	A549T	probably damaging	Het
Mbd5	T	C	2: 49,272,416 (GRCm38)	V970A	possibly damaging	Het
Mccc1	A	G	3: 35,963,570 (GRCm38)		probably benign	Het
Mpp4	A	T	1: 59,143,829 (GRCm38)		probably benign	Het
Mrnip	G	A	11: 50,199,920 (GRCm38)	A304T	probably damaging	Het
Muc5b	T	C	7: 141,865,082 (GRCm38)	S3922P	possibly damaging	Het
Myh3	T	A	11: 67,096,507 (GRCm38)		probably benign	Het
Nbea	A	T	3: 56,037,277 (GRCm38)	H555Q	probably damaging	Het
Nlrp9c	A	T	7: 26,371,476 (GRCm38)		probably benign	Het
Nmur1	A	T	1: 86,387,678 (GRCm38)	V178E	probably damaging	Het
Nod2	T	G	8: 88,663,778 (GRCm38)	S238A	probably benign	Het
Ogfod1	A	T	8: 94,063,023 (GRCm38)	T451S	probably damaging	Het
Olfr145	G	A	9: 37,897,842 (GRCm38)	G146D	probably benign	Het
Olfr23	T	C	11: 73,941,109 (GRCm38)	F288L	probably damaging	Het
Olfr372	C	T	8: 72,058,400 (GRCm38)	T240M	probably damaging	Het
Olfr716	T	A	7: 107,148,187 (GRCm38)	Y290*	probably null	Het
Pcdh20	T	C	14: 88,468,668 (GRCm38)	I399V	probably benign	Het
Pdlim1	G	T	19: 40,243,573 (GRCm38)	H120Q	probably damaging	Het
Plg	T	C	17: 12,419,081 (GRCm38)	V798A	probably damaging	Het
Polr2c	A	G	8: 94,857,775 (GRCm38)	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,830,714 (GRCm38)		probably benign	Het
Ppp1r3a	A	T	6: 14,719,697 (GRCm38)	I406N	probably benign	Het
Psg28	A	T	7: 18,426,173 (GRCm38)	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702 (GRCm38)	I419T	probably damaging	Het
Rnf43	A	G	11: 87,731,282 (GRCm38)	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,290,045 (GRCm38)		probably null	Het
Slc28a3	A	G	13: 58,569,415 (GRCm38)		probably benign	Het
Smad2	A	T	18: 76,289,037 (GRCm38)		probably null	Het
Smad4	G	A	18: 73,658,649 (GRCm38)	P274S	probably benign	Het
Smchd1	A	T	17: 71,403,154 (GRCm38)	V906D	probably damaging	Het
Soat2	C	A	15: 102,158,753 (GRCm38)	R320S	possibly damaging	Het
Spata33	C	T	8: 123,221,887 (GRCm38)	A57V	probably damaging	Het
Stab1	A	G	14: 31,143,418 (GRCm38)	L1814P	probably benign	Het
Stab2	T	C	10: 86,947,144 (GRCm38)	K680R	probably benign	Het
Stil	A	G	4: 115,041,172 (GRCm38)		probably null	Het
Sympk	T	A	7: 19,046,849 (GRCm38)	L759H	probably benign	Het
Tet1	A	T	10: 62,814,546 (GRCm38)		probably null	Het
Tfpi2	A	T	6: 3,965,460 (GRCm38)	N117K	probably benign	Het
Tle3	A	G	9: 61,416,661 (GRCm38)	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,997,930 (GRCm38)		probably null	Het
Tshz1	A	G	18: 84,016,049 (GRCm38)	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,738,808 (GRCm38)	D177G	probably damaging	Het
Ttc13	T	A	8: 124,674,401 (GRCm38)	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,594,832 (GRCm38)	S462L	probably benign	Het
Utrn	C	T	10: 12,525,333 (GRCm38)		probably benign	Het
V1rd19	A	C	7: 24,003,585 (GRCm38)	T159P	probably damaging	Het
Vars	T	C	17: 35,011,486 (GRCm38)	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 13,084,588 (GRCm38)	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,455,978 (GRCm38)	T262A	probably damaging	Het
Vps53	G	A	11: 76,121,579 (GRCm38)	T209I	probably benign	Het
Wdfy2	T	C	14: 62,925,133 (GRCm38)	F95L	possibly damaging	Het
Zbtb8b	T	A	4: 129,432,670 (GRCm38)	D201V	probably damaging	Het
Zmym5	A	C	14: 56,804,451 (GRCm38)	N123K	possibly damaging	Het

Other mutations in Wwp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Wwp1	APN	4	19,650,360 (GRCm38)	missense	probably benign
IGL00945:Wwp1	APN	4	19,640,193 (GRCm38)	critical splice donor site	probably null
IGL01338:Wwp1	APN	4	19,627,636 (GRCm38)	missense	probably damaging	1.00
IGL01960:Wwp1	APN	4	19,662,115 (GRCm38)	splice site	probably benign
IGL02969:Wwp1	APN	4	19,623,200 (GRCm38)	missense	probably damaging	1.00
IGL03137:Wwp1	APN	4	19,678,408 (GRCm38)	missense	probably damaging	0.97
BB008:Wwp1	UTSW	4	19,650,114 (GRCm38)	critical splice donor site	probably null
BB018:Wwp1	UTSW	4	19,650,114 (GRCm38)	critical splice donor site	probably null
PIT4243001:Wwp1	UTSW	4	19,638,631 (GRCm38)	missense	probably damaging	0.99
R0035:Wwp1	UTSW	4	19,631,116 (GRCm38)	missense	probably damaging	1.00
R0109:Wwp1	UTSW	4	19,641,725 (GRCm38)	intron	probably benign
R0240:Wwp1	UTSW	4	19,641,734 (GRCm38)	splice site	probably null
R0240:Wwp1	UTSW	4	19,641,734 (GRCm38)	splice site	probably null
R0464:Wwp1	UTSW	4	19,638,763 (GRCm38)	intron	probably benign
R1604:Wwp1	UTSW	4	19,659,709 (GRCm38)	missense	probably benign
R1716:Wwp1	UTSW	4	19,659,698 (GRCm38)	missense	probably benign	0.00
R1778:Wwp1	UTSW	4	19,627,892 (GRCm38)	nonsense	probably null
R1832:Wwp1	UTSW	4	19,650,197 (GRCm38)	missense	probably benign	0.33
R2073:Wwp1	UTSW	4	19,662,181 (GRCm38)	missense	possibly damaging	0.89
R2094:Wwp1	UTSW	4	19,650,390 (GRCm38)	missense	probably benign	0.00
R2228:Wwp1	UTSW	4	19,641,745 (GRCm38)	missense	probably damaging	1.00
R2229:Wwp1	UTSW	4	19,641,745 (GRCm38)	missense	probably damaging	1.00
R2267:Wwp1	UTSW	4	19,638,618 (GRCm38)	missense	probably damaging	1.00
R2334:Wwp1	UTSW	4	19,662,032 (GRCm38)	missense	probably benign	0.07
R2349:Wwp1	UTSW	4	19,638,644 (GRCm38)	missense	possibly damaging	0.72
R3761:Wwp1	UTSW	4	19,631,085 (GRCm38)	missense	probably damaging	1.00
R4062:Wwp1	UTSW	4	19,638,644 (GRCm38)	missense	possibly damaging	0.72
R4731:Wwp1	UTSW	4	19,661,990 (GRCm38)	missense	probably benign	0.00
R4732:Wwp1	UTSW	4	19,661,990 (GRCm38)	missense	probably benign	0.00
R4733:Wwp1	UTSW	4	19,661,990 (GRCm38)	missense	probably benign	0.00
R4838:Wwp1	UTSW	4	19,662,143 (GRCm38)	missense	probably benign	0.31
R4936:Wwp1	UTSW	4	19,638,804 (GRCm38)	missense	probably damaging	0.96
R5262:Wwp1	UTSW	4	19,631,057 (GRCm38)	missense	probably damaging	1.00
R5340:Wwp1	UTSW	4	19,638,773 (GRCm38)	critical splice donor site	probably null
R5847:Wwp1	UTSW	4	19,662,174 (GRCm38)	missense	possibly damaging	0.95
R6492:Wwp1	UTSW	4	19,650,299 (GRCm38)	missense	possibly damaging	0.94
R6602:Wwp1	UTSW	4	19,641,816 (GRCm38)	missense	probably damaging	1.00
R6628:Wwp1	UTSW	4	19,661,963 (GRCm38)	splice site	probably null
R7017:Wwp1	UTSW	4	19,623,124 (GRCm38)	missense	probably damaging	1.00
R7195:Wwp1	UTSW	4	19,627,908 (GRCm38)	missense	possibly damaging	0.84
R7276:Wwp1	UTSW	4	19,611,782 (GRCm38)	missense	probably damaging	1.00
R7450:Wwp1	UTSW	4	19,640,016 (GRCm38)	missense	probably damaging	0.99
R7488:Wwp1	UTSW	4	19,627,660 (GRCm38)	missense	probably damaging	0.99
R7617:Wwp1	UTSW	4	19,662,188 (GRCm38)	missense	probably benign	0.00
R7707:Wwp1	UTSW	4	19,627,645 (GRCm38)	missense	probably benign	0.31
R7812:Wwp1	UTSW	4	19,639,991 (GRCm38)	missense	probably damaging	0.99
R7864:Wwp1	UTSW	4	19,635,328 (GRCm38)	missense	probably damaging	1.00
R7931:Wwp1	UTSW	4	19,650,114 (GRCm38)	critical splice donor site	probably null
R8006:Wwp1	UTSW	4	19,650,174 (GRCm38)	missense	probably benign
R8851:Wwp1	UTSW	4	19,643,437 (GRCm38)	missense	probably null	1.00
R8910:Wwp1	UTSW	4	19,627,741 (GRCm38)	missense	possibly damaging	0.70
R9020:Wwp1	UTSW	4	19,650,282 (GRCm38)	missense	probably benign
R9417:Wwp1	UTSW	4	19,662,215 (GRCm38)	missense	possibly damaging	0.67
R9736:Wwp1	UTSW	4	19,631,202 (GRCm38)	missense	probably damaging	0.99
X0018:Wwp1	UTSW	4	19,640,261 (GRCm38)	missense	probably benign	0.41
X0062:Wwp1	UTSW	4	19,638,794 (GRCm38)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- ACCAGGATATTGGAACCTCCCAACT -3'
(R):5'- AGGAATGGAACAAAGTACATGGGCTTTT -3'

Sequencing Primer
(F):5'- GTGAAGTAACTTTTCCCAGAATCTCC -3'
(R):5'- GTGGCAGAATTTGGTAATAAAGTCTC -3'

Posted On

2013-04-24