Mutagenetix > Incidental Mutation

Incidental Mutation 'R6602:Wwp1'

525332

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6602 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19608303-19708993 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19641816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 413 (V413D)

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: V413D

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

SMART Domains

Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: V413D

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: V413D

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

SMART Domains

Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: V413D

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

0.6167

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (43/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 124,639,254	L250P	probably damaging	Het
4921539E11Rik	T	C	4: 103,255,572	H12R	probably benign	Het
Abca4	A	C	3: 122,138,501	Q268P	probably benign	Het
Adgrf5	T	A	17: 43,450,304	N963K	probably benign	Het
Arl10	A	G	13: 54,578,937	D176G	probably damaging	Het
Btnl1	T	A	17: 34,385,748	M501K	probably damaging	Het
Ccdc162	G	T	10: 41,615,980	T1079K	probably benign	Het
Cd163	T	A	6: 124,311,635	W342R	probably damaging	Het
Cd70	T	C	17: 57,149,562	S14G	probably benign	Het
Chil4	C	A	3: 106,210,590	K121N	probably benign	Het
Csf1r	A	G	18: 61,110,425	D171G	possibly damaging	Het
Cyp4a31	A	T	4: 115,569,707		probably null	Het
D3Ertd254e	G	T	3: 36,164,855	L341F	possibly damaging	Het
Dapk1	A	T	13: 60,749,204	I746F	probably benign	Het
Erbb4	A	G	1: 68,370,503	S192P	probably damaging	Het
Exoc8	C	A	8: 124,896,411	V406L	probably damaging	Het
Fam168b	C	A	1: 34,836,741	G21V	probably damaging	Het
Greb1	A	T	12: 16,709,440	V652E	probably benign	Het
Ift88	A	G	14: 57,507,259	S745G	probably benign	Het
Il18bp	T	C	7: 102,016,030		probably benign	Het
Il6st	A	G	13: 112,504,413	T908A	probably damaging	Het
Klk11	A	G	7: 43,774,774	S6G	probably benign	Het
Mastl	T	C	2: 23,132,677	Y678C	probably benign	Het
Msra	A	T	14: 64,123,339	H184Q	probably benign	Het
Muc16	A	C	9: 18,609,476		probably null	Het
Myo3a	T	G	2: 22,577,787	L351R	probably damaging	Het
Npy5r	GCTGTGAAACACTG	GCTG	8: 66,681,540		probably null	Het
Olfr463	T	C	11: 87,893,652	T91A	probably benign	Het
Olfr830	A	G	9: 18,875,849	D174G	possibly damaging	Het
Olfr867	C	T	9: 20,055,046	R139Q	probably benign	Het
Pcdhb18	A	T	18: 37,490,480	I288F	probably damaging	Het
Pitpna	T	G	11: 75,620,315	V238G	possibly damaging	Het
Ppfibp1	T	A	6: 146,978,221	V81E	possibly damaging	Het
Rab11fip2	T	A	19: 59,942,856	T49S	probably damaging	Het
Rsl24d1	T	A	9: 73,113,510	I3N	possibly damaging	Het
Rtn1	T	C	12: 72,219,318	N161S	probably damaging	Het
Shank1	A	G	7: 44,352,336	I1151V	probably benign	Het
Slc34a3	A	G	2: 25,229,209	S550P	probably damaging	Het
Slc4a1ap	A	G	5: 31,527,641	H207R	probably damaging	Het
Sphkap	T	A	1: 83,275,758	K1423N	possibly damaging	Het
Ttn	A	G	2: 76,881,753		probably benign	Het
Ubqln5	T	A	7: 104,129,489	S43C	probably benign	Het
Vps13d	G	A	4: 145,103,664		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
R1778:Wwp1	UTSW	4	19627892	nonsense	probably null
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
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'- ACAGGACGAGATTCCAAGTCC -3'
(R):5'- TTCCATCCCTAGTAATGCCAGTAG -3'

Sequencing Primer
(F):5'- GGACGAGATTCCAAGTCCAAAATC -3'
(R):5'- CTATGCTTTAGTTGTCAGGAG -3'

Posted On

2018-06-22