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WormBase Tree Display for Variation: WBVar00092079

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Name Class

WBVar00092079EvidencePaper_evidenceWBPaper00024285
NamePublic_nameok799
HGVSg
Sequence_detailsSMapS_parentSequenceC41C4
Flanking_sequencescaactggactattgtcttcttctttctctacgtcttcctgtcggctctcgaatacctctg
Mapping_targetC41C4
Type_of_mutationInsertionAGTTGTAGTTTCTTAAGTATTTGTGTGTTTCTTAGATAAGAGTTAGTGATTTTCCCTGTCTTTGTCNCAATATATATTGAAAAAAAACTGAGAGATTTTTCGACGTGGTTTGTTCCTTTTTTTGTTGCGCTTATGGTATTAGCGATTCAAAAAATTCAAAAAAAAATTCAAAAAAGTTTAATAGAAGGTATTATAGTTCTAAACAGAAATATAAATTATTGGAAAATTTATAATAATCCATTGAGCTTTTAAATTGCTTCAAGACAATTTTCACCAAAAATAATCTACGAAACATTTTTCAATCGATTTTTCAAACTTTTACAAAATATATATTTCTTTGATTTTTTCTAGCGAGGACTTCGTGTTGTTCAGTTGAACCCAGTAGCTTCACAAATGCTATTGGTAATTT
Deletion
PCR_productok799_external
ok799_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00031637
LaboratoryRB
PersonWBPerson46
KO_consortium_allele
StatusLive
AffectsGeneWBGene00002147
TranscriptC41C4.4b.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
VEP_impactHIGH
cDNA_position?-1357
CDS_position?-1357
Protein_position?-453
Intron_number1-2/4
Exon_number1-3/5
C41C4.4a.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
cDNA_position?-2453
CDS_position?-2383
Protein_position?-795
Intron_number6-8/11
Exon_number7-9/12
InteractorWBInteraction000501557
WBInteraction000520494
WBInteraction000525372
WBInteraction000525373
WBInteraction000537511
WBInteraction000541685
IsolationMutagenUV/TMP
DescriptionPhenotypeWBPhenotype:0000081Paper_evidenceWBPaper00049705
Curator_confirmedWBPerson34124
Remarkreduced recovery after prolonged L1 arrestPaper_evidenceWBPaper00049705
Curator_confirmedWBPerson34124
WBPhenotype:0000436Paper_evidenceWBPaper00024285
WBPaper00046107
Curator_confirmedWBPerson712
WBPerson10038
RemarkMutations in components of the UPR result in GLR-1::GFP accumulation in the cell body.Paper_evidenceWBPaper00024285
Curator_confirmedWBPerson712
From the text: "However, when the glr-1 promoter was used to drive neuronal unc-6 gene expression in unc-6; ire-1 and unc-6; xbp-1 double mutants, UNC-6 was observed only in cell bodies (Fig. 2F, H)."Paper_evidenceWBPaper00046107
Curator_confirmedWBPerson10038
From the text: "in ire-1 mutants, Venus::UNC-6 was abnormally localized to the perinuclear region with minimal detection in the axon (Fig. 1D, E). The perinuclear accumulation of Venus::UNC-6 was colocalized with the ER marker (Fig. 1P-R, Rollset al.2002). These results suggest that IRE-1 is required for UNC-6's transport from the ER."Paper_evidenceWBPaper00046107
Curator_confirmedWBPerson10038
Phenotype_assayGenotypeunc-6(ev400); [ghEx15(glr-1p::unc-6::Venus; tph-1p::GFP)]Paper_evidenceWBPaper00046107
Curator_confirmedWBPerson10038
ghIs9[unc-6p::Venus::unc-6; str-3p::dsRed2] IVPaper_evidenceWBPaper00046107
Curator_confirmedWBPerson10038
WBPhenotype:0001834Paper_evidenceWBPaper00037064
Curator_confirmedWBPerson2987
Remark"All three ire-1 alleles failed to produce detectable levels of spliced XBP-1 under normal conditions or after an HP incubation (Fig. 6D and E)."Paper_evidenceWBPaper00037064
Curator_confirmedWBPerson2987
WBPhenotype:0002199Paper_evidenceWBPaper00052970
Curator_confirmedWBPerson10038
RemarkQuoted from paper, "Neither wild-type animals nor UPRmt deficient ubl-5 mutants exhibited abnormal post-deprivation activity. When UPRER deficient ire-1 mutants were deprived, their mean number of vm twitches increased by 30%, mirroring the trend reported for HSN deficient animals (Fig. 8c)." vm = vulval musclePaper_evidenceWBPaper00052970
Curator_confirmedWBPerson10038
EQ_annotationsAnatomy_termWBbt:0005821PATO:0000460Paper_evidenceWBPaper00052970
Curator_confirmedWBPerson10038
GO_termGO:0030431PATO:0000460Paper_evidenceWBPaper00052970
Curator_confirmedWBPerson10038
WBPhenotype:0002423Paper_evidenceWBPaper00037064
Curator_confirmedWBPerson2987
RemarkTunicamycin (Tm) preconditioning in wild type worms leads to increased tolerance to hypoxia. "... three loss-of-function mutant alleles of ire-1 (Fig. 3B), two alleles of atf-6 (Fig. 3D), and an allele of xbp-1 (Fig. 3F) all were defective for Tm preconditioning (Fig. 2D)."Paper_evidenceWBPaper00037064
Curator_confirmedWBPerson2987
"HP (hypoxic preconditioning) consistently provided protection from subsequent harsh hypoxic exposure for wild-type animals (Fig. 4A and B)... Two ire-1 alleles (v33 and ok799) blocked HP (Fig. 4C);"Paper_evidenceWBPaper00037064
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00004565Paper_evidenceWBPaper00037064
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000384Paper_evidenceWBPaper00046107
Curator_confirmedWBPerson10038
RemarkFrom the text: "ire-1 mutants did not show significant axon guidance defects (Fig. S3C in Supporting Information). UNC-6 secreted by muscles and other tissues probably compensates for the neuronal dysfunction of UNC-6 in ire-1 mutants."Paper_evidenceWBPaper00046107
Curator_confirmedWBPerson10038
EQ_annotationsAnatomy_termWBbt:0003832PATO:0000460Paper_evidenceWBPaper00046107
Curator_confirmedWBPerson10038
Phenotype_assayGenotypezdIs5(mec-4::GFP) IPaper_evidenceWBPaper00046107
Curator_confirmedWBPerson10038
WBPhenotype:0001990Paper_evidenceWBPaper00037064
Curator_confirmedWBPerson2987
WBPhenotype:0002423Paper_evidenceWBPaper00049307
Curator_confirmedWBPerson2987
Remark"Mutation of the ER-UPR genes ire-1 and xbp-1 did not suppress Neuro-Nmnat1(gcIs30[Neuro-m-nonN-Nmnat1]) hypoxic survival." (Figure S3b)Paper_evidenceWBPaper00049307
Curator_confirmedWBPerson2987
EQ_annotationsGO_termGO:0001666PATO:0000460Paper_evidenceWBPaper00049307
Curator_confirmedWBPerson2987
Phenotype_assayGenotypegcIs30 [Neuro-m-nonN-Nmnat1]Paper_evidenceWBPaper00049307
Curator_confirmedWBPerson2987
ReferenceWBPaper00024285
WBPaper00037064
WBPaper00049307
WBPaper00049705
WBPaper00046107
WBPaper00052970
WBPaper00065258
WBPaper00066043
RemarkSequenced by the C. elegans Gene Knockout ConsortiumPaper_evidenceWBPaper00041807
MethodKO_consortium_allele