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WormBase Tree Display for Variation: WBVar00142908

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Name Class

WBVar00142908EvidencePaper_evidenceWBPaper00006395
NamePublic_namee12
Other_nameCE35021:p.Gly149Glu
T21D12.2b.1:c.446G>A
T21D12.2a.1:c.446G>A
CE49091:p.Gly149Glu
HGVSgCHROMOSOME_IV:g.258714C>T
Sequence_detailsSMapS_parentSequenceT21D12
Flanking_sequencesaatgtccaactggagctccaggaccaccagacttccaggtaaatttgaattgcatcagga
Mapping_targetT21D12
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00006395
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004077
WBStrain00026744
WBStrain00027172
WBStrain00027245
WBStrain00027276
WBStrain00033525
WBStrain00035533
WBStrain00036391
WBStrain00049370
LaboratoryCB
StatusLive
AffectsGeneWBGene00001071
TranscriptT21D12.2b.1VEP_consequencemissense_variant
VEP_impactMODERATE
SIFT0deleterious
PolyPhen0unknown
HGVScT21D12.2b.1:c.446G>A
HGVSpCE49091:p.Gly149Glu
cDNA_position446
CDS_position446
Protein_position149
Exon_number2/4
Codon_changegGa/gAa
Amino_acid_changeG/E
T21D12.2a.1VEP_consequencemissense_variant
VEP_impactMODERATE
SIFT0deleterious
PolyPhen0.983probably_damaging
HGVScT21D12.2a.1:c.446G>A
HGVSpCE35021:p.Gly149Glu
cDNA_position447
CDS_position446
Protein_position149
Exon_number3/6
Codon_changegGa/gAa
Amino_acid_changeG/E
InteractorWBInteraction000503698
WBInteraction000537309
GeneticsInterpolated_map_positionIV-26.772
Mapping_dataIn_2_point91
92
93
94
95
96
97
443
727
838
3272
5216
6178
6184
6186
7000
In_multi_point94
337
579
610
623
674
675
679
683
691
1269
1270
1842
2339
2437
2440
3060
3061
3062
3063
3132
3182
3183
5457
5675
In_pos_neg_data2140
3687
DescriptionPhenotypeWBPhenotype:0000135Paper_evidenceWBPaper00032031
WBPaper00045575
Curator_confirmedWBPerson712
RemarkAnimals exhibited a high level of pnlp-29::GFP expression under normal culture conditions, unlike wild type worms.Paper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
As measured by quantitative RT-PCR, the expression of all six genes of the nlp-29 locus was increased in a dpy-10-mutant background, to varying degrees.Paper_evidenceWBPaper00045575
Curator_confirmedWBPerson712
Phenotype_assayGenotypePnlp-29::GFPPaper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
WBPhenotype:0000319Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkLarge dumpy. Easy to score (ES3) in adult, very hard to score (ES1) in larvae.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000420Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
RemarkEnhanced susceptibility to levamisole (Figure 3K)Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
Affected_byMoleculeWBMol:00004019Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
WBPhenotype:0000462Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
RemarkEnhanced susceptibility to paraquat (Figure 3B)Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
Affected_byMoleculeWBMol:00002747Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
WBPhenotype:0000583Paper_evidenceWBPaper00000031
WBPaper00032031
WBPaper00032090
WBPaper00005747
WBPaper00064435
Person_evidenceWBPerson261
Curator_confirmedWBPerson48
WBPerson712
WBPerson2987
WBPerson6532
RemarkLarge dumpy. Easy to score (ES3) in adult, very hard to score (ES1) in larvae.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Authors report "large dpy" (Table 1)Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypePnlp-29::GFPPaper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
kaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0000876Paper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
RemarkAnimals resist osmotic stress.Paper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
Phenotype_assayGenotypePnlp-29::GFPPaper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
WBPhenotype:0000948Paper_evidenceWBPaper00061220
WBPaper00064435
Curator_confirmedWBPerson3900
WBPerson6532
RemarkIrregular indentations in the cuticle (Figure 2)Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
WBPhenotype:0000961Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0001014Paper_evidenceWBPaper00032031
WBPaper00061220
Curator_confirmedWBPerson712
WBPerson3900
RemarkAnimals had a markedly increased resistance to D. coniospora infection.Paper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
Enhanced resistance to Pseudomonas aeruginosa (Figure S4G)Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
Phenotype_assayTreatmentInfections with a freshly harvested solution of D. coniospora spores were done as described [65]; worms were analyzed after 24 h at 25C. Worms were pricked in the tail region using a microinjection needle under a dissecting microscope and analyzed 6 h later for GFP induction or 2 hours later for qRT-PCR.Paper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
GenotypePnlp-29::GFPPaper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
WBPhenotype:0001236Paper_evidenceWBPaper00058872
Curator_confirmedWBPerson712
Remarkloss of dpy-2 or dpy-9 gene function is associated with increased GFP::DBL-1 fluorescence from texIs100 or texIs101 as shown in (A') and (B'), respectively. dpy-2 and dpy-9 mutants also have reduced spp-9p::gfp reporter activity compared to control (C), as shown in (C') and (C''), respectively.Paper_evidenceWBPaper00058872
Curator_confirmedWBPerson712
ImageWBPicture0000014937Paper_evidenceWBPaper00058872
Curator_confirmedWBPerson712
Phenotype_assayGenotypeTLG702 dpy-9(e12); texIs101Paper_evidenceWBPaper00058872
Curator_confirmedWBPerson712
WBPhenotype:0001278Paper_evidenceWBPaper00058872
Curator_confirmedWBPerson712
RemarkConsistent with the increased GFP::DBL-1 fluorescence at L4, we observed significantly decreased fluorescence from the spp-9p::gfp reporter at L4 (Figure 1, Table 1). TPaper_evidenceWBPaper00058872
Curator_confirmedWBPerson712
ImageWBPicture0000014937Paper_evidenceWBPaper00058872
Curator_confirmedWBPerson712
Phenotype_assayGenotypeTLG724 dpy-9(e12); texIs127Paper_evidenceWBPaper00058872
Curator_confirmedWBPerson712
WBPhenotype:0001412Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkAuthors report "multiple or discontinuous ala" (Table 1)Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0001517Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkAuthors report "missing or amorphous annuli" (Table 1)Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0001918Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
RemarkEnhanced susceptibility to ivermectin (Figure 3L)Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
Affected_byMoleculeWBMol:00002786Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
WBPhenotype:0002575Paper_evidenceWBPaper00064435
Curator_confirmedWBPerson6532
WBPhenotype:0002641Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
RemarkCuticle permeable to Hoechst 33258 (Figure S1)Paper_evidenceWBPaper00061220
Curator_confirmedWBPerson3900
Phenotype_not_observedWBPhenotype:0000039Paper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
RemarkLife span of animals were not greater than that of wild type worms in the absence of infection.Paper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
Phenotype_assayGenotypePnlp-29::GFPPaper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
WBPhenotype:0000505Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
RemarkMales are not Ram.Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006941PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Life_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Phenotype_assayTemperature20CPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Genotypehim-5(e1490)Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBPhenotype:0001426Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Phenotype_assayGenotypearIs37Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Disease_infoModels_diseaseDOID:37
Models_disease_in_annotationWBDOannot00001177
ReferenceWBPaper00022152
WBPaper00014889
WBPaper00001328
WBPaper00000031
WBPaper00004883
WBPaper00032090
WBPaper00005747
WBPaper00032031
WBPaper00017705
WBPaper00021983
WBPaper00045575
WBPaper00058872
WBPaper00061220
WBPaper00064435
MethodSubstitution_allele