Mutagenetix > Incidental Mutation

Incidental Mutation 'R1778:Wwp1'

197212

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

039809-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1778 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19608303-19708993 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 19627892 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 700 (Y700*)

Ref Sequence

ENSEMBL: ENSMUSP00000103881 (fasta)

Gene Model

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

AlphaFold

Q8BZZ3

Predicted Effect

probably null
Transcript: ENSMUST00000035982
AA Change: Y700*

SMART Domains

Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: Y700*

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
AA Change: Y700*

SMART Domains

Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: Y700*

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

0.9755

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

98% (107/109)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	G	T	10: 77,982,944	A150S	probably benign	Het
4930432E11Rik	T	C	7: 29,560,706		noncoding transcript	Het
4930568D16Rik	A	G	2: 35,354,983	M119T	probably damaging	Het
Aadacl2	A	G	3: 60,017,450		probably null	Het
Abca9	C	T	11: 110,130,716	W1056*	probably null	Het
Adam20	A	C	8: 40,796,661	T603P	possibly damaging	Het
Adgrl1	T	C	8: 83,930,037	L323P	probably damaging	Het
Afap1l2	C	T	19: 56,916,206	E628K	possibly damaging	Het
Ahctf1	A	T	1: 179,753,015	L1874Q	possibly damaging	Het
Ak8	A	G	2: 28,712,321	E89G	probably benign	Het
Aldh16a1	G	A	7: 45,147,308	R256C	probably damaging	Het
Anxa5	G	A	3: 36,465,331	T3M	probably damaging	Het
Arhgef16	T	C	4: 154,287,986	K210E	probably benign	Het
Armc4	A	T	18: 7,127,388	C942S	probably damaging	Het
Baz2b	T	C	2: 60,006,136	T18A	unknown	Het
BC037034	T	C	5: 138,262,477		probably null	Het
Bub1	A	C	2: 127,803,122	I960M	possibly damaging	Het
Cbln2	G	T	18: 86,713,147	D27Y	probably benign	Het
Ces2h	C	A	8: 105,014,607	P77Q	possibly damaging	Het
Chga	T	A	12: 102,561,700	M150K	probably benign	Het
Chmp3	A	G	6: 71,577,807	E162G	probably benign	Het
Clip3	A	G	7: 30,297,436	N161S	probably damaging	Het
Col12a1	T	A	9: 79,604,585		probably benign	Het
Cuedc2	C	T	19: 46,331,640	G105D	probably benign	Het
Cyp2j7	A	C	4: 96,199,390	F428V	probably damaging	Het
Ddx60	A	G	8: 61,974,176	I762V	possibly damaging	Het
Def6	G	A	17: 28,220,186	R257Q	probably benign	Het
Dkkl1	A	T	7: 45,211,395		probably null	Het
Dnah3	A	G	7: 120,078,402	L433P	probably damaging	Het
Eif2s3y	C	T	Y: 1,011,287	R33C	probably benign	Het
Elavl2	T	A	4: 91,253,478	Y269F	probably damaging	Het
Esco2	A	G	14: 65,831,262	S200P	possibly damaging	Het
Fam213b	A	T	4: 154,897,357	V151D	probably damaging	Het
Fcrl1	T	A	3: 87,385,319		probably benign	Het
Fhod1	C	A	8: 105,329,677	D1135Y	probably damaging	Het
Fnbp1l	T	C	3: 122,590,147	N41D	possibly damaging	Het
Folh1	A	T	7: 86,761,699		probably null	Het
Fpr-rs7	T	C	17: 20,114,015	D71G	probably damaging	Het
Gm10271	A	G	10: 116,961,939		probably benign	Het
Gm4841	A	T	18: 60,270,948	Y24*	probably null	Het
Gm9825	A	T	6: 7,983,124		noncoding transcript	Het
Greb1	G	A	12: 16,690,894	R1396C	probably benign	Het
Hectd1	C	T	12: 51,753,807	C2076Y	probably damaging	Het
Hnrnpu	A	G	1: 178,325,241		probably benign	Het
Ice2	T	C	9: 69,415,648	I475T	probably benign	Het
Ifit1bl1	T	A	19: 34,594,193	Q288L	probably damaging	Het
Ik	T	C	18: 36,756,818		probably benign	Het
Kidins220	C	T	12: 25,013,446		probably benign	Het
Kmt2c	T	C	5: 25,372,974	D768G	probably benign	Het
Kmt2e	A	G	5: 23,492,364	T87A	probably damaging	Het
Lama5	G	A	2: 180,195,481		probably benign	Het
Lmbr1l	A	G	15: 98,912,476	S85P	probably damaging	Het
Lrig2	A	G	3: 104,467,366		probably benign	Het
Lrig3	A	G	10: 126,010,075	D791G	probably damaging	Het
Lrrc2	G	A	9: 110,980,840	V315M	probably benign	Het
Lrrc4b	A	G	7: 44,462,399	D565G	probably benign	Het
Mpped1	C	T	15: 83,791,990		probably benign	Het
Msrb2	T	A	2: 19,383,303	D87E	probably benign	Het
Muc20	T	C	16: 32,794,141	T289A	possibly damaging	Het
Myo15	C	A	11: 60,478,412	P666Q	possibly damaging	Het
Nfat5	C	T	8: 107,361,789	P579L	probably damaging	Het
Nipbl	A	C	15: 8,319,488	M1920R	probably damaging	Het
Nuak1	T	C	10: 84,374,874		probably null	Het
Nup210l	A	G	3: 90,189,486	E1334G	probably damaging	Het
Olfr12	G	A	1: 92,620,620	G238E	possibly damaging	Het
Olfr1410	A	T	1: 92,608,109	N91Y	possibly damaging	Het
Olfr262	T	A	19: 12,241,455	I69F	probably benign	Het
Olfr675	A	T	7: 105,024,163	N272K	probably benign	Het
Olfr804	T	C	10: 129,705,705	Y276H	probably benign	Het
P4ha3	A	T	7: 100,300,691		probably null	Het
Pbld2	C	T	10: 63,054,371	A186V	probably benign	Het
Pcdh18	A	T	3: 49,755,634	Y411N	probably benign	Het
Pgf	A	G	12: 85,171,767	S70P	probably benign	Het
Phrf1	T	A	7: 141,232,456	D44E	probably benign	Het
Pla2g4a	A	G	1: 149,902,445		probably benign	Het
Plce1	A	G	19: 38,780,790		probably benign	Het
Plxna2	A	G	1: 194,810,970	N1851S	probably benign	Het
Prl7a2	G	A	13: 27,659,271	T183I	probably damaging	Het
Ptger4	A	T	15: 5,235,095	L335H	probably damaging	Het
Ptgr1	A	G	4: 58,984,865		probably benign	Het
Rdh7	A	G	10: 127,884,721	S261P	probably benign	Het
Reg3a	A	G	6: 78,383,286	T150A	probably benign	Het
Rnf111	A	G	9: 70,476,112	S180P	probably benign	Het
Rnf17	A	G	14: 56,522,399	M1554V	probably damaging	Het
Rnf215	T	A	11: 4,135,873	Y117*	probably null	Het
Rogdi	T	C	16: 5,010,505	T165A	probably benign	Het
Rpe65	A	G	3: 159,622,848	Y431C	probably damaging	Het
Scube1	A	G	15: 83,610,204	F844S	probably damaging	Het
Sdr16c6	T	A	4: 4,058,814	E257D	probably benign	Het
Sim1	C	A	10: 50,981,553	C466*	probably null	Het
Spi1	T	A	2: 91,099,522	H46Q	probably damaging	Het
Sumf2	C	A	5: 129,845,068		probably benign	Het
Tbcb	A	G	7: 30,231,612	Y28H	probably benign	Het
Tecta	C	T	9: 42,343,631	C1752Y	probably damaging	Het
Tep1	T	C	14: 50,829,622		probably benign	Het
Tmem245	A	T	4: 56,903,968	W591R	probably damaging	Het
Tnxb	A	G	17: 34,683,574	I1134V	probably benign	Het
Trim13	G	T	14: 61,605,619	A362S	probably benign	Het
Trim47	T	A	11: 116,109,820	D134V	probably damaging	Het
Ttc26	T	A	6: 38,409,476	D377E	possibly damaging	Het
Utrn	C	A	10: 12,436,364	D616Y	probably damaging	Het
Vnn1	G	T	10: 23,899,517	A222S	possibly damaging	Het
Wdr17	A	G	8: 54,690,214	W110R	probably damaging	Het
Zbtb21	T	C	16: 97,950,585	S661G	probably benign	Het
Zfp955b	A	G	17: 33,302,814	K419R	probably benign	Het

Other mutations in Wwp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Wwp1	APN	4	19650360	missense	probably benign
IGL00945:Wwp1	APN	4	19640193	critical splice donor site	probably null
IGL01338:Wwp1	APN	4	19627636	missense	probably damaging	1.00
IGL01960:Wwp1	APN	4	19662115	splice site	probably benign
IGL02969:Wwp1	APN	4	19623200	missense	probably damaging	1.00
IGL03137:Wwp1	APN	4	19678408	missense	probably damaging	0.97
BB008:Wwp1	UTSW	4	19650114	critical splice donor site	probably null
BB018:Wwp1	UTSW	4	19650114	critical splice donor site	probably null
PIT4243001:Wwp1	UTSW	4	19638631	missense	probably damaging	0.99
R0035:Wwp1	UTSW	4	19631116	missense	probably damaging	1.00
R0109:Wwp1	UTSW	4	19641725	intron	probably benign
R0240:Wwp1	UTSW	4	19641734	splice site	probably null
R0240:Wwp1	UTSW	4	19641734	splice site	probably null
R0391:Wwp1	UTSW	4	19627911	missense	probably damaging	1.00
R0464:Wwp1	UTSW	4	19638763	intron	probably benign
R1604:Wwp1	UTSW	4	19659709	missense	probably benign
R1716:Wwp1	UTSW	4	19659698	missense	probably benign	0.00
R1832:Wwp1	UTSW	4	19650197	missense	probably benign	0.33
R2073:Wwp1	UTSW	4	19662181	missense	possibly damaging	0.89
R2094:Wwp1	UTSW	4	19650390	missense	probably benign	0.00
R2228:Wwp1	UTSW	4	19641745	missense	probably damaging	1.00
R2229:Wwp1	UTSW	4	19641745	missense	probably damaging	1.00
R2267:Wwp1	UTSW	4	19638618	missense	probably damaging	1.00
R2334:Wwp1	UTSW	4	19662032	missense	probably benign	0.07
R2349:Wwp1	UTSW	4	19638644	missense	possibly damaging	0.72
R3761:Wwp1	UTSW	4	19631085	missense	probably damaging	1.00
R4062:Wwp1	UTSW	4	19638644	missense	possibly damaging	0.72
R4731:Wwp1	UTSW	4	19661990	missense	probably benign	0.00
R4732:Wwp1	UTSW	4	19661990	missense	probably benign	0.00
R4733:Wwp1	UTSW	4	19661990	missense	probably benign	0.00
R4838:Wwp1	UTSW	4	19662143	missense	probably benign	0.31
R4936:Wwp1	UTSW	4	19638804	missense	probably damaging	0.96
R5262:Wwp1	UTSW	4	19631057	missense	probably damaging	1.00
R5340:Wwp1	UTSW	4	19638773	critical splice donor site	probably null
R5847:Wwp1	UTSW	4	19662174	missense	possibly damaging	0.95
R6492:Wwp1	UTSW	4	19650299	missense	possibly damaging	0.94
R6602:Wwp1	UTSW	4	19641816	missense	probably damaging	1.00
R6628:Wwp1	UTSW	4	19661963	splice site	probably null
R7017:Wwp1	UTSW	4	19623124	missense	probably damaging	1.00
R7195:Wwp1	UTSW	4	19627908	missense	possibly damaging	0.84
R7276:Wwp1	UTSW	4	19611782	missense	probably damaging	1.00
R7450:Wwp1	UTSW	4	19640016	missense	probably damaging	0.99
R7488:Wwp1	UTSW	4	19627660	missense	probably damaging	0.99
R7617:Wwp1	UTSW	4	19662188	missense	probably benign	0.00
R7707:Wwp1	UTSW	4	19627645	missense	probably benign	0.31
R7812:Wwp1	UTSW	4	19639991	missense	probably damaging	0.99
R7864:Wwp1	UTSW	4	19635328	missense	probably damaging	1.00
R7931:Wwp1	UTSW	4	19650114	critical splice donor site	probably null
R8006:Wwp1	UTSW	4	19650174	missense	probably benign
R8851:Wwp1	UTSW	4	19643437	missense	probably null	1.00
R8910:Wwp1	UTSW	4	19627741	missense	possibly damaging	0.70
R9020:Wwp1	UTSW	4	19650282	missense	probably benign
R9417:Wwp1	UTSW	4	19662215	missense	possibly damaging	0.67
R9736:Wwp1	UTSW	4	19631202	missense	probably damaging	0.99
X0018:Wwp1	UTSW	4	19640261	missense	probably benign	0.41
X0062:Wwp1	UTSW	4	19638794	missense	possibly damaging	0.65

Predicted Primers

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

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

Posted On

2014-05-23