Mutagenetix > Incidental Mutations

Incidental Mutation 'R6338:Wbp2nl'

514355

Institutional Source

Beutler Lab

Gene Symbol

Wbp2nl

Ensembl Gene

ENSMUSG00000022455

Gene Name

WBP2 N-terminal like

Synonyms

4930521I23Rik, PAWP

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6338 (G1)

Quality Score

219.009

Status

Not validated

Chromosome

Chromosomal Location

82298954-82314623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 82299045 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Cysteine at position 13 (W13C)

Ref Sequence

ENSEMBL: ENSMUSP00000023089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023089] [ENSMUST00000023095]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023089
AA Change: W13C

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023089
Gene: ENSMUSG00000022455
AA Change: W13C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023095

SMART Domains

Protein: ENSMUSP00000023095
Gene: ENSMUSG00000022456

Domain	Start	End	E-Value	Type
Pfam:DUF258	27	143	9.1e-9	PFAM
Pfam:Septin	45	322	8.9e-117	PFAM
Pfam:AIG1	49	145	2.6e-7	PFAM
Pfam:MMR_HSR1	50	220	2.3e-9	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 98,257,715	Y128C	probably damaging	Het
Adam30	T	G	3: 98,161,541	I102S	probably damaging	Het
Adcy8	A	T	15: 64,920,617	D163E	possibly damaging	Het
Agrn	C	T	4: 156,170,585	E1614K	probably benign	Het
Aldh16a1	A	T	7: 45,141,961	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,845,570	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,833,725	S738G	probably benign	Het
Arid5b	C	A	10: 68,098,561	G504*	probably null	Het
Carmil3	T	C	14: 55,499,849	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,849,154	D186V	probably damaging	Het
Cdh23	T	C	10: 60,413,151	D882G	probably damaging	Het
Cdh4	T	C	2: 179,890,812	V689A	probably damaging	Het
Cntn6	T	A	6: 104,726,139	V174E	probably damaging	Het
Col7a1	C	T	9: 108,956,633	T390M	unknown	Het
Crybg1	T	C	10: 43,992,509	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,932,492	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,198,122	E55G	probably damaging	Het
Fam13a	A	G	6: 58,953,499	V476A	probably damaging	Het
Fem1b	A	T	9: 62,797,011	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489	V466I	probably benign	Het
Gm11639	C	T	11: 104,843,208	R2027*	probably null	Het
Gm20671	A	T	5: 32,820,647	D1794E	probably damaging	Het
Gpatch2	G	T	1: 187,225,514	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,816,456	T450A	probably benign	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Krit1	T	G	5: 3,836,857	M702R	probably benign	Het
Krt34	T	C	11: 100,038,490	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,547,316	N376K	possibly damaging	Het
Myo15	A	G	11: 60,478,133	E573G	probably damaging	Het
Olfr1224-ps1	T	A	2: 89,156,371	K268I	probably damaging	Het
Olfr1390	A	G	11: 49,340,867	S112G	probably benign	Het
Olfr366	A	T	2: 37,219,822	D111V	probably damaging	Het
Olfr391-ps	A	T	11: 73,799,319	L146Q	possibly damaging	Het
Olfr661	T	A	7: 104,688,171	V52E	possibly damaging	Het
Olfr736	T	A	14: 50,393,400	F215I	possibly damaging	Het
Phf20	A	T	2: 156,273,686	Q309L	possibly damaging	Het
Plcd1	G	A	9: 119,074,991	R292C	probably damaging	Het
Pold3	A	G	7: 100,088,105	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,739,679		probably null	Het
Ptprcap	A	G	19: 4,156,224	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,341,378	E843G	possibly damaging	Het
Rai14	T	C	15: 10,574,976	D632G	probably damaging	Het
Rnf149	A	T	1: 39,560,742	C268S	probably null	Het
Slc6a13	T	A	6: 121,334,839	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,384,043		probably null	Het
Slf1	T	A	13: 77,084,462		probably null	Het
Stard9	G	A	2: 120,697,485	V1408I	probably benign	Het
Suclg1	T	C	6: 73,264,246	I183T	probably damaging	Het
Syne1	T	C	10: 5,255,475	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,729,376	R121*	probably null	Het
Tdpoz2	C	T	3: 93,652,336	V110I	probably benign	Het
Ubn2	A	G	6: 38,490,714	T788A	probably benign	Het
Unc13c	T	A	9: 73,734,447	I1255F	probably damaging	Het
Usp44	G	T	10: 93,846,513	R275I	probably damaging	Het
Uspl1	A	G	5: 149,215,034	N1015D	probably benign	Het
Zc3h14	T	A	12: 98,758,590	D170E	possibly damaging	Het

Other mutations in Wbp2nl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Wbp2nl	APN	15	82314210	missense	probably benign	0.03
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
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
Z1177:Wbp2nl	UTSW	15	82308564	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAACTCCAGGGTTTCTGC -3'
(R):5'- CTCAAGCCTTTCCTCTGAGG -3'

Sequencing Primer
(F):5'- AGGGTTTCTGCGCCATAATC -3'
(R):5'- ACAGGCTCTTGGACTTGGC -3'

Posted On

2018-04-27