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WormBase Tree Display for Variation: WBVar00090954

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Name Class

WBVar00090954EvidencePaper_evidenceWBPaper00031700
NamePublic_namenc40
Other_nameY48G9A.3.1:c.2683+1932_3408del
HGVSgCHROMOSOME_III:g.2170080_2176959del
Sequence_detailsSMapS_parentSequenceY48G9A
Flanking_sequencesagtggcacattttcgaggaatggaaggattcttgttggtacggacttttatgtgaaaatt
Mapping_targetY48G9A
Type_of_mutationDeletion
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00034488
LaboratoryST
StatusLive
AffectsGeneWBGene00003293
WBGene00021697
WBGene00003294
WBGene00003322
WBGene00003292
TranscriptY48G9A.13
Y48G9A.15
Y48G9A.14
Y48G9A.3.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScY48G9A.3.1:c.2683+1932_3408del
cDNA_position?-3447
CDS_position?-3408
Protein_position?-1136
Intron_number12-13/29
Exon_number13-14/30
Y48G9A.16
InteractorWBInteraction000009105
WBInteraction000536193
WBInteraction000536195
WBInteraction000536196
WBInteraction000536197
WBInteraction000536202
WBInteraction000536203
GeneticsInterpolated_map_positionIII-15.062
DescriptionPhenotypeWBPhenotype:0000199Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
Remark"To gain insight into SMPs signaling, we conducted a screen for mutations that suppress the ray 1 phenotype in plx-1 mutants. One isolated mutation, nc40, suppressed the ray defect in plx-1 as well as that in smp-1 smp-2 mutants (Fig 1D,H,I)."Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeplx-1(nc37)Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
smp-1(ev715) smp-2(ev709)Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
plx-1(ev724)Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
WBPhenotype:0001351Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
Remark"We carried out Western blot analysis to detect the level of eIF2α phosphorylation (P-eIF2α) in wild-type and gcn-1 mutant larvae at stage 1 (L1). In gcn-1 mutants, a reduction in P-eIF2α to 28% of wild type was observed (Fig 2A), indicating that GCN-1 does participate in the eIF2α phosphorylation."Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000112Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
Remarkgcn-1(nc40) did not affect expression of UNC-60APaper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
WBPhenotype:0000298Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
Remark"nc40 single mutants displayed normal ray configuration (Supplemental Tables S1, S2)."Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
ReferenceWBPaper00031700
MethodDeletion_allele