Incidental Mutation 'IGL00654:Wbp2nl'
ID 14830
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 # IGL00654
Quality Score
Status
Chromosome 15
Chromosomal Location 82183155-82198824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82198411 bp (GRCm39)
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

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 T C 14: 68,886,877 (GRCm39) T46A probably benign Het
Cmya5 G A 13: 93,230,669 (GRCm39) S1473L probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Dcbld1 A C 10: 52,188,945 (GRCm39) I186L probably benign Het
Dgkh A C 14: 78,847,033 (GRCm39) M367R possibly damaging Het
Myb T C 10: 21,017,725 (GRCm39) D622G probably damaging Het
Nbeal1 A G 1: 60,234,170 (GRCm39) probably benign Het
Nlrp14 G T 7: 106,795,351 (GRCm39) L211F probably damaging Het
Pbrm1 T A 14: 30,754,361 (GRCm39) probably benign Het
Pcdhb13 A T 18: 37,576,774 (GRCm39) D384V possibly damaging Het
Ppl T C 16: 4,905,172 (GRCm39) I1708V possibly damaging Het
Prdx1 G A 4: 116,550,162 (GRCm39) D115N probably benign Het
Prdx1 C T 4: 116,550,147 (GRCm39) R110C probably benign Het
Prep C T 10: 44,991,269 (GRCm39) R312W probably damaging Het
Rpap2 A T 5: 107,751,497 (GRCm39) probably benign Het
Rubcn A T 16: 32,644,747 (GRCm39) probably null Het
Sumf2 G T 5: 129,882,918 (GRCm39) probably benign Het
Tek A G 4: 94,715,538 (GRCm39) T359A probably benign Het
Thrap3 C T 4: 126,059,371 (GRCm39) G892S probably benign Het
Tlr12 C T 4: 128,511,233 (GRCm39) G339E probably benign Het
Usp39 A G 6: 72,305,607 (GRCm39) L392P probably damaging Het
Other mutations in Wbp2nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02900:Wbp2nl APN 15 82,198,035 (GRCm39) missense probably benign
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 2012-12-06