Mutagenetix > Incidental Mutation

Incidental Mutation 'R0464:Wwp1'

71408

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

038664-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0464 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19608303-19708993 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 19638763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103885 (fasta)

Gene Model

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

AlphaFold

Q8BZZ3

Predicted Effect

probably benign
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 benign
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

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.7%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	G	T	2: 163,574,884 (GRCm39)	Y84*	probably null	Het
Adar	T	A	3: 89,642,889 (GRCm39)	C257S	possibly damaging	Het
Adgrd1	G	T	5: 129,239,714 (GRCm39)	C507F	probably damaging	Het
Atp5f1a	T	C	18: 77,867,622 (GRCm39)	Y299H	probably benign	Het
Bok	G	T	1: 93,621,935 (GRCm39)	R77L	probably damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Ceacam1	A	G	7: 25,171,442 (GRCm39)	S341P	possibly damaging	Het
Cfhr3	A	T	1: 139,521,683 (GRCm39)		noncoding transcript	Het
Ckap5	A	G	2: 91,409,858 (GRCm39)	I947V	probably benign	Het
Clec2i	T	C	6: 128,872,386 (GRCm39)	Y173H	probably damaging	Het
Cttnbp2	T	C	6: 18,408,690 (GRCm39)	D977G	possibly damaging	Het
Cyp2f2	C	A	7: 26,831,962 (GRCm39)	Q406K	probably benign	Het
Ddx28	A	G	8: 106,736,685 (GRCm39)	S458P	probably damaging	Het
Dppa3	T	A	6: 122,605,492 (GRCm39)		probably null	Het
Dusp10	C	A	1: 183,801,273 (GRCm39)	L347I	probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fbxl15	A	T	19: 46,316,951 (GRCm39)	E13D	probably benign	Het
Fhit	T	A	14: 10,991,567 (GRCm38)		probably benign	Het
Fras1	G	T	5: 96,784,662 (GRCm39)	V882F	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gabbr1	C	T	17: 37,361,726 (GRCm39)		probably benign	Het
Ganc	T	A	2: 120,267,175 (GRCm39)	V497D	probably benign	Het
Glt8d2	T	G	10: 82,490,564 (GRCm39)	H242P	possibly damaging	Het
Gna15	T	C	10: 81,348,338 (GRCm39)	Y131C	probably benign	Het
Gpatch8	T	C	11: 102,371,712 (GRCm39)	K609E	unknown	Het
Gprc5a	A	T	6: 135,056,413 (GRCm39)	K287*	probably null	Het
Iqub	T	A	6: 24,479,262 (GRCm39)	K427*	probably null	Het
Itpr2	C	G	6: 146,277,387 (GRCm39)	D666H	probably damaging	Het
Kcnj5	T	C	9: 32,234,269 (GRCm39)	I15M	possibly damaging	Het
Kcnn2	A	G	18: 45,693,426 (GRCm39)	E334G	probably damaging	Het
Lypd6	T	A	2: 50,080,690 (GRCm39)	I126N	probably damaging	Het
Ms4a20	A	G	19: 11,089,801 (GRCm39)	L28P	probably damaging	Het
Mtus1	T	C	8: 41,455,511 (GRCm39)	D56G	probably damaging	Het
Myo1h	A	G	5: 114,498,571 (GRCm39)	D889G	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Nab1	T	C	1: 52,529,174 (GRCm39)	D241G	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ncbp3	C	T	11: 72,960,647 (GRCm39)		probably benign	Het
Nek1	T	A	8: 61,525,307 (GRCm39)		probably benign	Het
Nf1	T	C	11: 79,447,615 (GRCm39)	V2452A	probably benign	Het
Nlrp1b	A	C	11: 71,109,070 (GRCm39)	S144A	probably damaging	Het
Npr2	A	T	4: 43,640,597 (GRCm39)		probably null	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	"TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC"	X: 142,526,889 (GRCm39)		probably benign	Het
Paox	T	A	7: 139,709,195 (GRCm39)		probably benign	Het
Pcdh15	T	A	10: 74,462,676 (GRCm39)		probably null	Het
Pde8b	G	A	13: 95,241,206 (GRCm39)	T202M	probably damaging	Het
Pigo	A	T	4: 43,019,814 (GRCm39)	V905D	probably benign	Het
Pik3cb	A	G	9: 98,926,796 (GRCm39)		probably null	Het
Rassf5	T	C	1: 131,139,998 (GRCm39)	N87S	probably benign	Het
Rbl1	C	A	2: 156,989,465 (GRCm39)	K1051N	probably damaging	Het
Rfx7	T	C	9: 72,525,486 (GRCm39)	V892A	probably damaging	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
Rnf144b	T	A	13: 47,396,363 (GRCm39)	Y233*	probably null	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sbf2	T	C	7: 110,063,783 (GRCm39)		probably benign	Het
Sgo2a	A	T	1: 58,039,253 (GRCm39)	K85N	probably damaging	Het
Siglec1	A	T	2: 130,921,279 (GRCm39)	C631S	probably damaging	Het
Simc1	C	T	13: 54,684,913 (GRCm39)	R50*	probably null	Het
Skint5	T	A	4: 113,392,928 (GRCm39)	M1235L	unknown	Het
Slc22a19	A	T	19: 7,660,278 (GRCm39)	N377K	probably benign	Het
Spata31d1a	A	G	13: 59,849,573 (GRCm39)	F852L	possibly damaging	Het
Spata31e3	A	G	13: 50,402,311 (GRCm39)		probably benign	Het
Srbd1	G	A	17: 86,427,430 (GRCm39)	S401F	probably damaging	Het
Stk36	C	A	1: 74,650,331 (GRCm39)	Q288K	probably damaging	Het
Styx	T	C	14: 45,609,908 (GRCm39)	S191P	probably benign	Het
Supt6	T	A	11: 78,107,164 (GRCm39)	N1214I	probably benign	Het
Tcim	T	A	8: 24,928,644 (GRCm39)	D90V	probably damaging	Het
Tdpoz1	T	A	3: 93,578,782 (GRCm39)	M1L	probably damaging	Het
Tep1	T	A	14: 51,085,141 (GRCm39)	T881S	probably benign	Het
Tlr5	C	T	1: 182,801,275 (GRCm39)	A193V	probably benign	Het
Tmem117	T	A	15: 94,612,800 (GRCm39)	F112Y	probably damaging	Het
Tnrc6c	C	T	11: 117,651,375 (GRCm39)	R1633W	probably damaging	Het
Trh	T	C	6: 92,220,649 (GRCm39)		probably null	Het
Triobp	A	G	15: 78,851,186 (GRCm39)	R447G	possibly damaging	Het
Trip6	A	G	5: 137,311,943 (GRCm39)	F46S	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Usp33	T	C	3: 152,081,872 (GRCm39)		probably benign	Het
Vmn2r60	A	T	7: 41,785,255 (GRCm39)	I156F	probably damaging	Het
Wdr17	T	C	8: 55,123,427 (GRCm39)		probably benign	Het
Wdr35	G	T	12: 9,077,472 (GRCm39)		probably benign	Het
Zfp652	T	C	11: 95,654,475 (GRCm39)	C293R	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGGTTTGCCTCCGTGTATGCC -3'
(R):5'- ACCACTGTCCTAGCAGATAGACCTG -3'

Sequencing Primer
(F):5'- TCACTCAGGGAATGAGGGTTAC -3'
(R):5'- CAGATAGACCTGTACTTATTAACAGC -3'

Posted On

2013-09-30