Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00846:Wbp1'

14829

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00846

Quality Score

Status

Chromosome

Chromosomal Location

83096025-83098442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83097022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 93 (F93S)

Ref Sequence

ENSEMBL: ENSMUSP00000122900 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000032111
AA Change: F94S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032111
Gene: ENSMUSG00000030035
AA Change: F94S

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 damaging
Transcript: ENSMUST00000113936
AA Change: F59S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109569
Gene: ENSMUSG00000030035
AA Change: F59S

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: F18S

Predicted Effect

probably damaging
Transcript: ENSMUST00000146328
AA Change: F93S

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

SMART Domains

Protein: ENSMUSP00000122900
Gene: ENSMUSG00000030035
AA Change: F93S

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

probably benign
Transcript: ENSMUST00000205023

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131939

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145403

Predicted Effect

probably benign
Transcript: ENSMUST00000151393

SMART Domains

Protein: ENSMUSP00000145130
Gene: ENSMUSG00000030035

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: ENSMUST00000203085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203069

Predicted Effect

probably benign
Transcript: ENSMUST00000143814

Coding Region Coverage

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn2l	T	C	7: 126,098,350 (GRCm39)	T181A	probably damaging	Het
Caskin1	T	C	17: 24,718,323 (GRCm39)		probably null	Het
Cass4	A	C	2: 172,271,643 (GRCm39)		probably benign	Het
Cdh26	A	T	2: 178,123,417 (GRCm39)	Y672F	possibly damaging	Het
Cep290	T	A	10: 100,376,195 (GRCm39)		probably benign	Het
Cntnap2	T	C	6: 47,169,972 (GRCm39)	L1146P	probably benign	Het
Cntnap5b	T	G	1: 100,091,948 (GRCm39)	C230G	probably damaging	Het
Ctnnd1	C	T	2: 84,452,354 (GRCm39)		probably null	Het
Cux1	A	G	5: 136,355,650 (GRCm39)	I324T	probably damaging	Het
Dnajb4	T	C	3: 151,899,118 (GRCm39)	N36S	probably damaging	Het
Fancc	T	A	13: 63,488,270 (GRCm39)	T237S	possibly damaging	Het
Fip1l1	A	G	5: 74,747,726 (GRCm39)		probably benign	Het
Hemgn	G	T	4: 46,396,171 (GRCm39)	T355K	possibly damaging	Het
Hivep1	T	A	13: 42,321,092 (GRCm39)	L42*	probably null	Het
Hps3	A	G	3: 20,079,956 (GRCm39)	W234R	probably benign	Het
Kit	A	T	5: 75,801,471 (GRCm39)	N586I	probably damaging	Het
Mettl14	T	A	3: 123,165,012 (GRCm39)	K109N	probably damaging	Het
Mmab	A	T	5: 114,571,378 (GRCm39)	M166K	probably benign	Het
Naprt	T	A	15: 75,763,637 (GRCm39)	Y395F	probably benign	Het
Nostrin	C	T	2: 69,015,899 (GRCm39)		probably benign	Het
Pgap1	G	T	1: 54,531,180 (GRCm39)		probably benign	Het
Plpp5	A	T	8: 26,210,585 (GRCm39)	I59F	probably damaging	Het
Prrc2b	T	C	2: 32,089,109 (GRCm39)		probably benign	Het
Scn4a	A	T	11: 106,218,944 (GRCm39)	V958D	probably benign	Het
Serpinb3b	T	A	1: 107,083,579 (GRCm39)	N200I	probably damaging	Het
Slc22a15	T	A	3: 101,768,136 (GRCm39)	Q512L	probably benign	Het
Tmf1	A	T	6: 97,150,277 (GRCm39)	Y477N	possibly damaging	Het
Trim10	T	A	17: 37,182,584 (GRCm39)	L150H	probably damaging	Het
Ttc41	A	G	10: 86,572,797 (GRCm39)	E723G	possibly damaging	Het
Usp25	A	G	16: 76,859,293 (GRCm39)	S264G	probably damaging	Het
Vopp1	A	G	6: 57,731,465 (GRCm39)		probably benign	Het
Wapl	G	T	14: 34,414,701 (GRCm39)		probably benign	Het
Wt1	G	T	2: 104,997,302 (GRCm39)	R413L	probably damaging	Het
Zfp345	C	T	2: 150,314,538 (GRCm39)	G333D	possibly damaging	Het
Zmynd11	C	A	13: 9,770,808 (GRCm39)		probably null	Het

Other mutations in Wbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0669:Wbp1	UTSW	6	83,096,326 (GRCm39)	missense	possibly damaging	0.85
R1269:Wbp1	UTSW	6	83,096,584 (GRCm39)	missense	probably benign	0.01
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

Posted On

2012-12-06