Incidental Mutation 'IGL01987:Wbp2nl'
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ID181943
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 #IGL01987
Quality Score
Status
Chromosome15
Chromosomal Location82298954-82314623 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 82308561 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 149 (M149L)
Ref Sequence ENSEMBL: ENSMUSP00000023089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023089]
Predicted Effect probably benign
Transcript: ENSMUST00000023089
AA Change: M149L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000023089
Gene: ENSMUSG00000022455
AA Change: M149L

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932411N23Rik C T X: 126,814,475 E336K possibly damaging Het
Abca17 A G 17: 24,346,228 F77L probably benign Het
Abca8a A G 11: 110,074,155 F439L possibly damaging Het
Abcb5 A T 12: 118,927,358 V468D probably damaging Het
Adgrb3 A T 1: 25,101,431 probably null Het
Ankrd28 T C 14: 31,778,974 D50G probably damaging Het
Cacna1b A T 2: 24,697,567 probably null Het
Capn9 A G 8: 124,576,226 S28G probably benign Het
Cdk5rap2 A G 4: 70,302,082 probably null Het
E2f5 T C 3: 14,587,303 probably benign Het
Fam135b A G 15: 71,462,115 Y1077H probably benign Het
Fap A G 2: 62,528,676 Y428H probably damaging Het
Fasn A G 11: 120,818,073 S595P probably damaging Het
Flnb T C 14: 7,922,748 probably null Het
Fzd3 A T 14: 65,239,898 V69E probably damaging Het
Gcdh A T 8: 84,893,481 probably benign Het
Gm996 T C 2: 25,577,958 E647G possibly damaging Het
Ido1 A G 8: 24,593,143 Y89H probably benign Het
Itga2 G A 13: 114,847,946 Q1010* probably null Het
Man1a2 T C 3: 100,644,557 Y280C probably damaging Het
Mgat4d T C 8: 83,368,102 I256T probably damaging Het
Mmrn1 A G 6: 60,944,573 K5E probably benign Het
Ncapd2 A G 6: 125,185,841 probably benign Het
Olfr520 A T 7: 99,735,271 I43F probably damaging Het
Olfr830 A T 9: 18,875,707 I127L probably benign Het
Pcnx3 T C 19: 5,677,479 D644G probably damaging Het
Pole T C 5: 110,337,232 V2280A probably benign Het
Ptprf T A 4: 118,277,370 M24L probably benign Het
Sbno1 T C 5: 124,404,219 N337S probably damaging Het
Serpinc1 T A 1: 160,993,407 F141L probably damaging Het
Shroom3 C A 5: 92,942,189 R933S probably damaging Het
Slc24a2 G A 4: 87,227,796 P7L probably benign Het
Slc25a32 G A 15: 39,097,607 T227I probably damaging Het
Slc7a1 A G 5: 148,337,192 F396L possibly damaging Het
Smok2a G A 17: 13,226,490 R318H probably benign Het
Sntg2 A G 12: 30,312,570 V59A probably damaging Het
Sspo A G 6: 48,477,624 probably null Het
Tnfrsf1a G A 6: 125,356,864 V27I probably damaging Het
Tnpo3 T C 6: 29,560,201 T648A probably benign Het
Tpbg A G 9: 85,845,199 Y407C probably damaging Het
Yif1a T A 19: 5,091,597 M181K probably benign Het
Zkscan8 A G 13: 21,526,559 L127S probably damaging Het
Other mutations in Wbp2nl
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 On2014-05-07