Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01408:Wbp11'

79889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wbp11

Ensembl Gene

ENSMUSG00000030216

Gene Name

WW domain binding protein 11

Synonyms

D6Wsu113e, SIPP1, 2510026P17Rik, Npwbp

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL01408

Quality Score

Status

Chromosome

Chromosomal Location

136790652-136805214 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 136791612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074556] [ENSMUST00000116514] [ENSMUST00000203982] [ENSMUST00000204272]

AlphaFold

Q923D5

Predicted Effect

probably benign
Transcript: ENSMUST00000074556

SMART Domains

Protein: ENSMUSP00000074142
Gene: ENSMUSG00000060032

Domain	Start	End	E-Value	Type
H2A	3	123	2.32e-81	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000116514
AA Change: M507T

SMART Domains

Protein: ENSMUSP00000112213
Gene: ENSMUSG00000030216
AA Change: M507T

Domain	Start	End	E-Value	Type
Pfam:Wbp11	12	94	1e-26	PFAM
low complexity region	191	209	N/A	INTRINSIC
low complexity region	263	284	N/A	INTRINSIC
low complexity region	344	367	N/A	INTRINSIC
low complexity region	380	532	N/A	INTRINSIC
low complexity region	549	565	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203982

SMART Domains

Protein: ENSMUSP00000144974
Gene: ENSMUSG00000060032

Domain	Start	End	E-Value	Type
H2A	3	123	9.8e-84	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204129

Predicted Effect

probably benign
Transcript: ENSMUST00000204272

SMART Domains

Protein: ENSMUSP00000145501
Gene: ENSMUSG00000030216

Domain	Start	End	E-Value	Type
Pfam:Wbp11	12	94	3.8e-24	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530068E07Rik	A	G	11: 52,294,193 (GRCm39)	R145G	probably damaging	Het
Akr1c21	T	A	13: 4,627,431 (GRCm39)	M175K	probably benign	Het
Apol7a	C	T	15: 77,273,530 (GRCm39)	A311T	probably damaging	Het
Atxn10	G	T	15: 85,260,896 (GRCm39)	E214*	probably null	Het
Bmp2k	C	T	5: 97,234,823 (GRCm39)	Q749*	probably null	Het
Ccdc141	G	A	2: 76,876,023 (GRCm39)	A669V	probably benign	Het
Cndp2	A	C	18: 84,689,036 (GRCm39)	C249G	probably benign	Het
Cnr1	A	G	4: 33,944,802 (GRCm39)	I397V	possibly damaging	Het
Col19a1	T	C	1: 24,345,331 (GRCm39)		probably benign	Het
Dbn1	T	C	13: 55,630,117 (GRCm39)		probably benign	Het
Dmgdh	C	T	13: 93,845,803 (GRCm39)	P486S	probably damaging	Het
Dpys	A	G	15: 39,656,702 (GRCm39)	V455A	possibly damaging	Het
Farp2	A	G	1: 93,546,702 (GRCm39)	N907S	probably benign	Het
Fndc3c1	C	T	X: 105,476,378 (GRCm39)	E894K	probably benign	Het
Gm6685	A	T	11: 28,289,473 (GRCm39)	N114K	probably damaging	Het
Golga3	A	T	5: 110,365,675 (GRCm39)		probably null	Het
Grin2c	A	G	11: 115,151,708 (GRCm39)	L84P	probably damaging	Het
Gucy2c	A	G	6: 136,675,009 (GRCm39)	F1001L	probably benign	Het
Hcn4	A	G	9: 58,767,169 (GRCm39)	H910R	unknown	Het
Kdm4b	T	C	17: 56,660,518 (GRCm39)		probably benign	Het
Lrrfip2	A	G	9: 111,043,284 (GRCm39)	T497A	probably benign	Het
Man2c1	A	G	9: 57,048,884 (GRCm39)	Y924C	probably damaging	Het
Nkain2	T	A	10: 32,278,237 (GRCm39)	T63S	probably damaging	Het
Nlrp1a	T	A	11: 71,013,742 (GRCm39)	T503S	probably benign	Het
Or52n3	T	C	7: 104,530,037 (GRCm39)	V41A	probably benign	Het
Or52n4	T	A	7: 104,294,136 (GRCm39)	I146F	possibly damaging	Het
Pitrm1	T	A	13: 6,623,078 (GRCm39)	C780S	probably damaging	Het
Plekha5	C	T	6: 140,516,042 (GRCm39)		probably benign	Het
Rapgef4	C	T	2: 72,005,185 (GRCm39)	R193*	probably null	Het
Rbm20	A	G	19: 53,840,044 (GRCm39)	E1011G	possibly damaging	Het
Rfx3	A	T	19: 27,746,050 (GRCm39)	D685E	probably benign	Het
Ror1	T	C	4: 100,190,984 (GRCm39)	S114P	probably damaging	Het
Slc17a6	A	G	7: 51,318,863 (GRCm39)	K502E	probably benign	Het
Spink2	A	T	5: 77,359,174 (GRCm39)		probably benign	Het
Sptb	A	T	12: 76,659,921 (GRCm39)	I993N	possibly damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tes	A	T	6: 17,099,878 (GRCm39)	Y291F	probably damaging	Het
Tmtc4	G	T	14: 123,163,366 (GRCm39)		probably benign	Het
Trpa1	T	C	1: 14,959,637 (GRCm39)	E683G	probably benign	Het
Vmn2r73	T	C	7: 85,521,455 (GRCm39)	D171G	probably benign	Het
Wfdc12	A	G	2: 164,031,581 (GRCm39)	*86R	probably null	Het
Zfp281	T	C	1: 136,553,853 (GRCm39)	V277A	probably damaging	Het

Other mutations in Wbp11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Wbp11	APN	6	136,798,668 (GRCm39)	intron	probably benign
R0639:Wbp11	UTSW	6	136,793,108 (GRCm39)	unclassified	probably benign
R0685:Wbp11	UTSW	6	136,791,636 (GRCm39)	unclassified	probably benign
R1264:Wbp11	UTSW	6	136,791,513 (GRCm39)	unclassified	probably benign
R1987:Wbp11	UTSW	6	136,797,583 (GRCm39)	missense	probably damaging	0.99
R2362:Wbp11	UTSW	6	136,801,330 (GRCm39)	missense	probably damaging	1.00
R4646:Wbp11	UTSW	6	136,798,189 (GRCm39)	missense	probably benign	0.10
R5682:Wbp11	UTSW	6	136,791,252 (GRCm39)	unclassified	probably benign
R6045:Wbp11	UTSW	6	136,798,533 (GRCm39)	missense	probably damaging	0.99
R6386:Wbp11	UTSW	6	136,797,523 (GRCm39)	missense	probably benign	0.36
R6567:Wbp11	UTSW	6	136,797,537 (GRCm39)	missense	probably benign	0.02
R7132:Wbp11	UTSW	6	136,798,540 (GRCm39)	missense	probably benign	0.24
R8679:Wbp11	UTSW	6	136,799,932 (GRCm39)	missense	probably damaging	1.00
R9093:Wbp11	UTSW	6	136,803,044 (GRCm39)	missense	possibly damaging	0.86
R9420:Wbp11	UTSW	6	136,791,259 (GRCm39)	missense	unknown
R9794:Wbp11	UTSW	6	136,795,021 (GRCm39)	missense	possibly damaging	0.94

Posted On

2013-11-05