Incidental Mutation 'IGL01074:Wbp2nl'
ID52773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wbp2nl
Ensembl Gene ENSMUSG00000022455
Gene NameWBP2 N-terminal like
Synonyms4930521I23Rik, PAWP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01074
Quality Score
Status
Chromosome15
Chromosomal Location82298954-82314623 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 82314290 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 343 (S343P)
Ref Sequence ENSEMBL: ENSMUSP00000023089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023089]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023089
AA Change: S343P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023089
Gene: ENSMUSG00000022455
AA Change: S343P

DomainStartEndE-ValueType
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 80,013,892 D1934G possibly damaging Het
Adcy2 A T 13: 68,796,654 I203N possibly damaging Het
Asxl3 T C 18: 22,522,845 V1304A probably damaging Het
Cmah A G 13: 24,464,255 D491G possibly damaging Het
Cobll1 A G 2: 65,107,848 S364P probably damaging Het
Cspg4 T C 9: 56,898,865 L2320P probably damaging Het
Defa5 T A 8: 21,297,576 F46L possibly damaging Het
Erich6b T A 14: 75,658,768 N31K probably benign Het
Fcrl6 C T 1: 172,599,113 V89M possibly damaging Het
Gm5458 G T 14: 19,599,692 L155I probably damaging Het
Hlx T C 1: 184,727,813 D376G probably damaging Het
Hmcn1 A G 1: 150,627,033 S3948P possibly damaging Het
Igf2bp2 G A 16: 22,063,704 R416W probably damaging Het
Lama4 T C 10: 39,098,488 probably null Het
Lingo4 T C 3: 94,403,288 V511A probably benign Het
Mllt3 C A 4: 87,791,881 V29L probably benign Het
Mmp16 T C 4: 18,110,584 probably benign Het
Moxd1 A G 10: 24,279,384 R228G probably benign Het
Myrfl T C 10: 116,779,585 N802S possibly damaging Het
Nmu C A 5: 76,343,927 V121F probably damaging Het
Npepps T C 11: 97,217,811 T760A probably damaging Het
Ogfod1 G T 8: 94,063,006 W445L probably damaging Het
Olfr1221 T C 2: 89,111,679 T278A probably benign Het
Oplah G A 15: 76,305,748 P222S probably damaging Het
Slc4a4 T A 5: 89,179,774 L699H probably damaging Het
Sod3 C T 5: 52,368,198 Q80* probably null Het
Syne2 C T 12: 76,031,587 Q4732* probably null Het
Syne2 T C 12: 75,987,011 I3678T probably benign Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tmem220 T C 11: 67,032,173 probably benign Het
Uhrf1bp1 A G 17: 27,879,291 I136V possibly damaging Het
Ush1c A G 7: 46,225,250 probably benign Het
Other mutations in Wbp2nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Wbp2nl APN 15 82314210 missense probably benign 0.03
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
Z1177:Wbp2nl UTSW 15 82308564 missense probably damaging 1.00
Posted On2013-06-21