Mutagenetix > Incidental Mutation

Incidental Mutation 'R1269:Wbp1'

151241

Institutional Source

Beutler Lab

Gene Symbol

Wbp1

Ensembl Gene

ENSMUSG00000030035

Gene Name

WW domain binding protein 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R1269 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83096025-83098442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83096584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 156 (T156I)

Ref Sequence

ENSEMBL: ENSMUSP00000109569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032109] [ENSMUST00000032111] [ENSMUST00000032114] [ENSMUST00000113935] [ENSMUST00000113936] [ENSMUST00000146328] [ENSMUST00000151393] [ENSMUST00000205023] [ENSMUST00000143814]

AlphaFold

P97764

Predicted Effect

probably benign
Transcript: ENSMUST00000032109

SMART Domains

Protein: ENSMUSP00000032109
Gene: ENSMUSG00000030034

Domain	Start	End	E-Value	Type
low complexity region	23	39	N/A	INTRINSIC
low complexity region	129	137	N/A	INTRINSIC
low complexity region	161	177	N/A	INTRINSIC
Pfam:PAPA-1	198	282	1.6e-27	PFAM
Pfam:zf-HIT	294	325	6.1e-10	PFAM
low complexity region	330	343	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000032111
AA Change: T191I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032111
Gene: ENSMUSG00000030035
AA Change: T191I

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	16	31	N/A	INTRINSIC
Pfam:WBP-1	71	177	1.4e-50	PFAM
low complexity region	185	200	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000032114

SMART Domains

Protein: ENSMUSP00000032114
Gene: ENSMUSG00000030036

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
low complexity region	74	90	N/A	INTRINSIC
Pfam:Glyco_hydro_63N	91	267	1.1e-54	PFAM
Pfam:Glyco_hydro_63	349	832	7e-202	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113935

SMART Domains

Protein: ENSMUSP00000109568
Gene: ENSMUSG00000030034

Domain	Start	End	E-Value	Type
low complexity region	53	69	N/A	INTRINSIC
low complexity region	159	167	N/A	INTRINSIC
low complexity region	191	207	N/A	INTRINSIC
Pfam:PAPA-1	228	309	4e-23	PFAM
Pfam:zf-HIT	324	355	4.3e-11	PFAM
low complexity region	360	373	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113936
AA Change: T156I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000109569
Gene: ENSMUSG00000030035
AA Change: T156I

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:WBP-1	36	142	1.2e-50	PFAM
low complexity region	150	165	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123394

Predicted Effect

unknown
Transcript: ENSMUST00000131936
AA Change: T115I

Predicted Effect

probably benign
Transcript: ENSMUST00000146328
AA Change: T190I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000122900
Gene: ENSMUSG00000030035
AA Change: T190I

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	16	30	N/A	INTRINSIC
Pfam:WBP-1	70	176	1.8e-50	PFAM
low complexity region	184	199	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000151393
AA Change: P179S

SMART Domains

Protein: ENSMUSP00000145130
Gene: ENSMUSG00000030035
AA Change: P179S

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	16	31	N/A	INTRINSIC
Pfam:WBP-1	71	96	4.4e-6	PFAM
low complexity region	102	113	N/A	INTRINSIC
low complexity region	171	189	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131939

Predicted Effect

probably benign
Transcript: ENSMUST00000205023

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203085

Predicted Effect

probably benign
Transcript: ENSMUST00000143814

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The globular WW domain, named for the conserved tryptophan residues in the protein motif present in various structural and regulatory proteins, is known to play a role in the mediation of protein-protein interactions. This gene encodes a ligand of the WW domain of the Yes kinase-associated protein. Readthrough transcription of the neighboring upstream gene, which encodes INO80 complex subunit B, into this gene generates a non-coding transcript. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	T	11: 94,248,210 (GRCm39)	R1129Q	probably damaging	Het
Brd8	C	T	18: 34,742,857 (GRCm39)		probably null	Het
Ccdc9b	C	T	2: 118,591,871 (GRCm39)	E90K	possibly damaging	Het
Dnah5	G	A	15: 28,238,657 (GRCm39)	V400M	probably damaging	Het
Epc2	T	A	2: 49,412,588 (GRCm39)	S189T	probably benign	Het
Inpp4a	T	C	1: 37,428,823 (GRCm39)	S83P	probably benign	Het
Ints2	C	T	11: 86,123,911 (GRCm39)	G626R	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Mbtps1	T	C	8: 120,247,016 (GRCm39)	D809G	probably damaging	Het
Nbea	T	C	3: 55,912,202 (GRCm39)	E1195G	probably benign	Het
Nfasc	G	T	1: 132,538,526 (GRCm39)	P454T	probably damaging	Het
Nlrp4e	T	A	7: 23,052,763 (GRCm39)	I894N	possibly damaging	Het
Picalm	A	T	7: 89,814,757 (GRCm39)	R129*	probably null	Het
Plekhg3	T	C	12: 76,607,243 (GRCm39)	I101T	probably damaging	Het
Pstpip1	A	G	9: 56,021,590 (GRCm39)	D38G	probably damaging	Het
Sec13	A	G	6: 113,714,956 (GRCm39)	S3P	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sytl1	A	T	4: 132,983,426 (GRCm39)	L370Q	probably damaging	Het
Tenm2	T	A	11: 35,899,185 (GRCm39)	I2658F	possibly damaging	Het
Tmc5	A	G	7: 118,265,816 (GRCm39)	M769V	probably benign	Het
Tspan8	A	G	10: 115,685,287 (GRCm39)	I232V	probably damaging	Het
Wfikkn2	T	C	11: 94,129,301 (GRCm39)	Y280C	probably damaging	Het
Xrcc6	A	T	15: 81,907,048 (GRCm39)	Q123H	possibly damaging	Het
Zfp526	T	C	7: 24,923,788 (GRCm39)	S16P	probably benign	Het

Other mutations in Wbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Wbp1	APN	6	83,097,022 (GRCm39)	missense	probably damaging	1.00
R0669:Wbp1	UTSW	6	83,096,326 (GRCm39)	missense	possibly damaging	0.85
R5610:Wbp1	UTSW	6	83,097,216 (GRCm39)	missense	probably damaging	1.00
R6091:Wbp1	UTSW	6	83,096,468 (GRCm39)	missense	probably benign	0.43
R6399:Wbp1	UTSW	6	83,096,982 (GRCm39)	unclassified	probably benign
R7799:Wbp1	UTSW	6	83,097,176 (GRCm39)	nonsense	probably null
R8515:Wbp1	UTSW	6	83,096,866 (GRCm39)	missense	probably damaging	1.00
R8885:Wbp1	UTSW	6	83,096,913 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCACCTTCACTGGAGTCAGGACAAG -3'
(R):5'- CCACTGGCAGACATTTCAGAGCAC -3'

Sequencing Primer
(F):5'- TCAGGACAAGGGCAGAGC -3'
(R):5'- GCAGACATTTCAGAGCACTCTTG -3'

Posted On

2014-01-29