Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00654:Wbp2nl'

14830

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wbp2nl

Ensembl Gene

ENSMUSG00000022455

Gene Name

WBP2 N-terminal like

Synonyms

4930521I23Rik, PAWP

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00654

Quality Score

Status

Chromosome

Chromosomal Location

82298954-82314623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82314210 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 316 (V316A)

Ref Sequence

ENSEMBL: ENSMUSP00000023089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023089]

AlphaFold

Q9D529

Predicted Effect

probably benign
Transcript: ENSMUST00000023089
AA Change: V316A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000023089
Gene: ENSMUSG00000022455
AA Change: V316A

Domain	Start	End	E-Value	Type
Pfam:GRAM	4	87	1e-9	PFAM
Pfam:WWbp	103	226	2e-23	PFAM
low complexity region	238	262	N/A	INTRINSIC
low complexity region	277	288	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit normal sperm morphology, acrosomal reaction, egg activation and fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	C	14: 68,649,428	T46A	probably benign	Het
Cmya5	G	A	13: 93,094,161	S1473L	probably benign	Het
Crygd	C	T	1: 65,062,091	R115Q	probably benign	Het
Dcbld1	A	C	10: 52,312,849	I186L	probably benign	Het
Dgkh	A	C	14: 78,609,593	M367R	possibly damaging	Het
Myb	T	C	10: 21,141,826	D622G	probably damaging	Het
Nbeal1	A	G	1: 60,195,011		probably benign	Het
Nlrp14	G	T	7: 107,196,144	L211F	probably damaging	Het
Pbrm1	T	A	14: 31,032,404		probably benign	Het
Pcdhb13	A	T	18: 37,443,721	D384V	possibly damaging	Het
Ppl	T	C	16: 5,087,308	I1708V	possibly damaging	Het
Prdx1	G	A	4: 116,692,965	D115N	probably benign	Het
Prdx1	C	T	4: 116,692,950	R110C	probably benign	Het
Prep	C	T	10: 45,115,173	R312W	probably damaging	Het
Rpap2	A	T	5: 107,603,631		probably benign	Het
Rubcn	A	T	16: 32,824,377		probably null	Het
Sumf2	G	T	5: 129,854,077		probably benign	Het
Tek	A	G	4: 94,827,301	T359A	probably benign	Het
Thrap3	C	T	4: 126,165,578	G892S	probably benign	Het
Tlr12	C	T	4: 128,617,440	G339E	probably benign	Het
Usp39	A	G	6: 72,328,624	L392P	probably damaging	Het

Other mutations in Wbp2nl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Wbp2nl	APN	15	82314290	missense	possibly damaging	0.73
IGL01295:Wbp2nl	APN	15	82306418	missense	probably damaging	1.00
IGL01621:Wbp2nl	APN	15	82308605	missense	probably benign
IGL01735:Wbp2nl	APN	15	82313816	missense	probably benign
IGL01987:Wbp2nl	APN	15	82308561	missense	probably benign	0.03
IGL02426:Wbp2nl	APN	15	82306173	missense	probably damaging	1.00
IGL02900:Wbp2nl	APN	15	82313834	missense	probably benign
IGL02971:Wbp2nl	APN	15	82305744	missense	possibly damaging	0.61
R0194:Wbp2nl	UTSW	15	82314282	missense	possibly damaging	0.93
R0242:Wbp2nl	UTSW	15	82313787	missense	probably benign
R0242:Wbp2nl	UTSW	15	82313787	missense	probably benign
R0909:Wbp2nl	UTSW	15	82314074	missense	probably benign	0.41
R1442:Wbp2nl	UTSW	15	82314206	missense	probably benign
R1753:Wbp2nl	UTSW	15	82305744	missense	probably damaging	0.97
R4085:Wbp2nl	UTSW	15	82308561	missense	probably benign	0.07
R4086:Wbp2nl	UTSW	15	82308561	missense	probably benign	0.07
R4087:Wbp2nl	UTSW	15	82308561	missense	probably benign	0.07
R4726:Wbp2nl	UTSW	15	82306054	missense	probably damaging	1.00
R4840:Wbp2nl	UTSW	15	82314336	missense	possibly damaging	0.96
R6338:Wbp2nl	UTSW	15	82299045	missense	possibly damaging	0.94
R6339:Wbp2nl	UTSW	15	82299045	missense	possibly damaging	0.94
R6820:Wbp2nl	UTSW	15	82313795	missense	possibly damaging	0.65
R7156:Wbp2nl	UTSW	15	82305702	missense	probably damaging	1.00
R7323:Wbp2nl	UTSW	15	82314341	makesense	probably null
R7598:Wbp2nl	UTSW	15	82308561	missense	probably benign	0.07
R7857:Wbp2nl	UTSW	15	82306072	missense	probably benign	0.24
R7903:Wbp2nl	UTSW	15	82306131	nonsense	probably null
R9242:Wbp2nl	UTSW	15	82308547	missense	probably benign	0.22
R9379:Wbp2nl	UTSW	15	82314110	missense	possibly damaging	0.83
Z1177:Wbp2nl	UTSW	15	82308564	missense	probably damaging	1.00

Posted On

2012-12-06