Incidental Mutation 'IGL01295:Wbp2nl'
ID 73068
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 # IGL01295
Quality Score
Status
Chromosome 15
Chromosomal Location 82183155-82198824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82190619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 129 (M129K)
Ref Sequence ENSEMBL: ENSMUSP00000023089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023089]
AlphaFold Q9D529
Predicted Effect probably damaging
Transcript: ENSMUST00000023089
AA Change: M129K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023089
Gene: ENSMUSG00000022455
AA Change: M129K

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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,383,893 (GRCm39) L691I possibly damaging Het
Ano7 A G 1: 93,308,200 (GRCm39) D77G probably benign Het
Apol10b A T 15: 77,469,796 (GRCm39) V127E probably damaging Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Atn1 T C 6: 124,726,239 (GRCm39) E80G probably damaging Het
Carmil2 T C 8: 106,422,148 (GRCm39) M1139T probably benign Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Celf5 G T 10: 81,302,914 (GRCm39) probably benign Het
Chd6 G A 2: 160,830,290 (GRCm39) probably benign Het
Col12a1 A T 9: 79,551,208 (GRCm39) V2136E probably damaging Het
Col4a1 G T 8: 11,286,075 (GRCm39) probably benign Het
Dph1 A G 11: 75,071,775 (GRCm39) probably benign Het
Dvl2 G T 11: 69,900,410 (GRCm39) V735F possibly damaging Het
Eif3b A G 5: 140,427,495 (GRCm39) I709V possibly damaging Het
Elp5 C T 11: 69,859,296 (GRCm39) probably benign Het
Exd1 A T 2: 119,360,560 (GRCm39) probably benign Het
Fbxl4 C A 4: 22,427,348 (GRCm39) R530S probably benign Het
Fmo4 A T 1: 162,626,693 (GRCm39) D284E probably damaging Het
Fn3krp A G 11: 121,312,380 (GRCm39) Y31C probably damaging Het
Galnt14 G T 17: 73,811,914 (GRCm39) Q436K probably benign Het
Gm5114 A T 7: 39,057,241 (GRCm39) W793R probably damaging Het
Gm9376 T G 14: 118,505,059 (GRCm39) S164A possibly damaging Het
Gtf2ird2 G A 5: 134,221,603 (GRCm39) D69N probably damaging Het
Hfm1 A C 5: 107,065,472 (GRCm39) M69R possibly damaging Het
Ighv9-1 A C 12: 114,057,619 (GRCm39) S94A probably damaging Het
Ikzf2 C T 1: 69,617,146 (GRCm39) R67H probably benign Het
Ipcef1 A T 10: 6,850,642 (GRCm39) F316L probably damaging Het
Kdsr A G 1: 106,683,187 (GRCm39) V62A possibly damaging Het
Kif23 A T 9: 61,839,411 (GRCm39) C279S possibly damaging Het
Klf5 C T 14: 99,539,157 (GRCm39) T110I probably benign Het
Klhl25 T A 7: 75,515,620 (GRCm39) H175Q probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Nfatc4 T C 14: 56,069,962 (GRCm39) V710A probably benign Het
Optn G A 2: 5,037,967 (GRCm39) T409I possibly damaging Het
Or10j3b A T 1: 173,043,440 (GRCm39) Y74F probably damaging Het
Or52a5 C T 7: 103,427,448 (GRCm39) V35I probably benign Het
Pabpc2 T A 18: 39,907,082 (GRCm39) Y116N probably damaging Het
Pafah1b1 G T 11: 74,574,473 (GRCm39) R238S probably damaging Het
Pdzd9 C T 7: 120,267,618 (GRCm39) G66R probably damaging Het
Pih1d1 T C 7: 44,809,388 (GRCm39) L285P probably damaging Het
Pirb G A 7: 3,720,405 (GRCm39) P323S probably damaging Het
Pkd1l1 A G 11: 8,883,685 (GRCm39) F396L possibly damaging Het
Pla2g4d G A 2: 120,112,207 (GRCm39) T108M probably damaging Het
Plin3 T C 17: 56,586,814 (GRCm39) Y411C probably damaging Het
Ppfibp2 T C 7: 107,346,746 (GRCm39) probably benign Het
Prrc2c T C 1: 162,510,061 (GRCm39) S995G probably damaging Het
Ptf1a T C 2: 19,451,429 (GRCm39) I253T probably damaging Het
Ptprb A G 10: 116,198,553 (GRCm39) I1684V probably benign Het
Ptprk G A 10: 28,351,174 (GRCm39) V556I probably benign Het
Rffl A T 11: 82,709,283 (GRCm39) C47S probably damaging Het
Rnf17 C T 14: 56,700,521 (GRCm39) Q569* probably null Het
Shprh A G 10: 11,059,612 (GRCm39) E1121G probably damaging Het
Slc1a5 A G 7: 16,529,787 (GRCm39) D402G probably damaging Het
Slc24a3 G A 2: 145,458,634 (GRCm39) probably null Het
Slc2a13 T A 15: 91,234,335 (GRCm39) probably null Het
Slc30a8 A T 15: 52,169,955 (GRCm39) N61Y possibly damaging Het
Slitrk6 A T 14: 110,988,868 (GRCm39) S280T possibly damaging Het
Smad2 G A 18: 76,435,501 (GRCm39) A365T probably benign Het
Tcp10b C T 17: 13,299,047 (GRCm39) P367S probably damaging Het
Tdp1 A G 12: 99,857,929 (GRCm39) N163D probably benign Het
Thbs1 A G 2: 117,948,808 (GRCm39) D488G possibly damaging Het
Trappc12 C T 12: 28,796,761 (GRCm39) S257N probably damaging Het
Treml1 T C 17: 48,672,627 (GRCm39) probably benign Het
Ugt2b36 A G 5: 87,228,744 (GRCm39) V234A probably damaging Het
Vmn2r86 T G 10: 130,288,895 (GRCm39) H202P probably damaging Het
Vmn2r87 C A 10: 130,307,878 (GRCm39) V787F probably damaging Het
Zdhhc15 T C X: 103,588,519 (GRCm39) probably null Het
Other mutations in Wbp2nl
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2013-10-07