Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02900:Wbp2nl'

363542

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wbp2nl

Ensembl Gene

ENSMUSG00000022455

Gene Name

WBP2 N-terminal like

Synonyms

PAWP, 4930521I23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02900

Quality Score

Status

Chromosome

Chromosomal Location

82183155-82198824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82198035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 191 (S191P)

Ref Sequence

ENSEMBL: ENSMUSP00000023089 (fasta)

Gene Model

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

AlphaFold

Q9D529

Predicted Effect

probably benign
Transcript: ENSMUST00000023089
AA Change: S191P

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

SMART Domains

Protein: ENSMUSP00000023089
Gene: ENSMUSG00000022455
AA Change: S191P

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,728,774 (GRCm39)	T23N	possibly damaging	Het
Angpt4	T	A	2: 151,753,391 (GRCm39)	V47E	probably damaging	Het
Arhgef11	G	A	3: 87,640,467 (GRCm39)	R1208Q	probably benign	Het
Calb1	T	C	4: 15,895,695 (GRCm39)		probably benign	Het
Capn11	G	T	17: 45,941,540 (GRCm39)		probably null	Het
Carmil2	T	A	8: 106,422,151 (GRCm39)	I1140N	probably damaging	Het
Cnn3	A	T	3: 121,245,143 (GRCm39)	T23S	probably benign	Het
Colgalt2	C	T	1: 152,384,481 (GRCm39)	T607M	probably damaging	Het
Cyp46a1	T	G	12: 108,309,350 (GRCm39)	V93G	probably damaging	Het
Dcaf6	T	C	1: 165,227,344 (GRCm39)	Y261C	probably damaging	Het
Dnah10	A	G	5: 124,878,886 (GRCm39)	Y2715C	probably damaging	Het
Dsg1a	G	T	18: 20,461,713 (GRCm39)		probably benign	Het
Eml4	C	T	17: 83,785,421 (GRCm39)	P862L	probably benign	Het
Gm5414	T	C	15: 101,536,242 (GRCm39)	T128A	probably damaging	Het
Gp9	G	T	6: 87,756,415 (GRCm39)	W143C	probably damaging	Het
Hipk2	T	C	6: 38,706,879 (GRCm39)	I670V	probably damaging	Het
Hoxa10	T	C	6: 52,209,541 (GRCm39)	K77R	possibly damaging	Het
Kcna1	T	G	6: 126,620,057 (GRCm39)	S88R	probably damaging	Het
Kif1b	A	T	4: 149,265,266 (GRCm39)	S1758T	possibly damaging	Het
Klk1b11	A	G	7: 43,427,837 (GRCm39)	T182A	probably damaging	Het
Lrp1	G	A	10: 127,412,516 (GRCm39)		probably benign	Het
Magi1	A	G	6: 93,663,854 (GRCm39)	S991P	probably damaging	Het
Mast4	T	A	13: 102,872,184 (GRCm39)	T2203S	probably benign	Het
Mxra8	A	G	4: 155,925,668 (GRCm39)		probably null	Het
Mxra8	A	G	4: 155,925,576 (GRCm39)	E95G	possibly damaging	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Or14j9	A	G	17: 37,874,740 (GRCm39)	I154T	possibly damaging	Het
Or2f2	T	A	6: 42,767,808 (GRCm39)	Y278*	probably null	Het
Or8g2b	T	A	9: 39,751,108 (GRCm39)	I126N	probably damaging	Het
Or8g4	A	T	9: 39,661,901 (GRCm39)	H73L	probably benign	Het
Pbx4	A	G	8: 70,319,216 (GRCm39)	E249G	probably damaging	Het
Pkd1l2	T	C	8: 117,750,830 (GRCm39)	E1727G	probably benign	Het
Plec	T	G	15: 76,070,414 (GRCm39)	D932A	probably damaging	Het
Pramel22	A	T	4: 143,382,085 (GRCm39)	F204I	possibly damaging	Het
Raph1	T	C	1: 60,542,022 (GRCm39)	D364G	probably damaging	Het
Rps29	T	A	12: 69,205,825 (GRCm39)	H3L	probably damaging	Het
Sema4c	A	T	1: 36,589,826 (GRCm39)	C509*	probably null	Het
Srgap2	A	T	1: 131,339,534 (GRCm39)		probably benign	Het
Stam2	A	T	2: 52,598,209 (GRCm39)	D243E	probably benign	Het
Stxbp4	A	G	11: 90,497,861 (GRCm39)	L146P	probably benign	Het
Teddm3	G	T	16: 20,971,900 (GRCm39)	T223K	probably benign	Het
Tfap2d	A	T	1: 19,189,474 (GRCm39)	N285Y	probably damaging	Het
Tmprss3	T	A	17: 31,403,553 (GRCm39)	D416V	probably damaging	Het
Vmn1r71	T	A	7: 10,482,601 (GRCm39)	Y29F	probably benign	Het
Vmn2r84	T	C	10: 130,223,861 (GRCm39)		probably benign	Het
Washc2	G	T	6: 116,204,435 (GRCm39)	D362Y	probably damaging	Het
Zfp608	T	C	18: 55,079,865 (GRCm39)	T307A	probably damaging	Het
Zfp970	T	C	2: 177,166,610 (GRCm39)		probably benign	Het

Other mutations in Wbp2nl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Wbp2nl	APN	15	82,198,411 (GRCm39)	missense	probably benign	0.03
IGL01074:Wbp2nl	APN	15	82,198,491 (GRCm39)	missense	possibly damaging	0.73
IGL01295:Wbp2nl	APN	15	82,190,619 (GRCm39)	missense	probably damaging	1.00
IGL01621:Wbp2nl	APN	15	82,192,806 (GRCm39)	missense	probably benign
IGL01735:Wbp2nl	APN	15	82,198,017 (GRCm39)	missense	probably benign
IGL01987:Wbp2nl	APN	15	82,192,762 (GRCm39)	missense	probably benign	0.03
IGL02426:Wbp2nl	APN	15	82,190,374 (GRCm39)	missense	probably damaging	1.00
IGL02971:Wbp2nl	APN	15	82,189,945 (GRCm39)	missense	possibly damaging	0.61
R0194:Wbp2nl	UTSW	15	82,198,483 (GRCm39)	missense	possibly damaging	0.93
R0242:Wbp2nl	UTSW	15	82,197,988 (GRCm39)	missense	probably benign
R0242:Wbp2nl	UTSW	15	82,197,988 (GRCm39)	missense	probably benign
R0909:Wbp2nl	UTSW	15	82,198,275 (GRCm39)	missense	probably benign	0.41
R1442:Wbp2nl	UTSW	15	82,198,407 (GRCm39)	missense	probably benign
R1753:Wbp2nl	UTSW	15	82,189,945 (GRCm39)	missense	probably damaging	0.97
R4085:Wbp2nl	UTSW	15	82,192,762 (GRCm39)	missense	probably benign	0.07
R4086:Wbp2nl	UTSW	15	82,192,762 (GRCm39)	missense	probably benign	0.07
R4087:Wbp2nl	UTSW	15	82,192,762 (GRCm39)	missense	probably benign	0.07
R4726:Wbp2nl	UTSW	15	82,190,255 (GRCm39)	missense	probably damaging	1.00
R4840:Wbp2nl	UTSW	15	82,198,537 (GRCm39)	missense	possibly damaging	0.96
R6338:Wbp2nl	UTSW	15	82,183,246 (GRCm39)	missense	possibly damaging	0.94
R6339:Wbp2nl	UTSW	15	82,183,246 (GRCm39)	missense	possibly damaging	0.94
R6820:Wbp2nl	UTSW	15	82,197,996 (GRCm39)	missense	possibly damaging	0.65
R7156:Wbp2nl	UTSW	15	82,189,903 (GRCm39)	missense	probably damaging	1.00
R7323:Wbp2nl	UTSW	15	82,198,542 (GRCm39)	makesense	probably null
R7598:Wbp2nl	UTSW	15	82,192,762 (GRCm39)	missense	probably benign	0.07
R7857:Wbp2nl	UTSW	15	82,190,273 (GRCm39)	missense	probably benign	0.24
R7903:Wbp2nl	UTSW	15	82,190,332 (GRCm39)	nonsense	probably null
R9242:Wbp2nl	UTSW	15	82,192,748 (GRCm39)	missense	probably benign	0.22
R9379:Wbp2nl	UTSW	15	82,198,311 (GRCm39)	missense	possibly damaging	0.83
Z1177:Wbp2nl	UTSW	15	82,192,765 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18