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WormBase Tree Display for Variation: WBVar00143220

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Name Class

WBVar00143220EvidencePaper_evidenceWBPaper00040589
NamePublic_namee450
Other_name (18)
HGVSgCHROMOSOME_I:g.7435173C>T
Sequence_detailsSMapS_parentSequenceC44E1
Flanking_sequencesattcaagaagaagaggaaaaaaggaattataggaactttggcataatgcttacaagagag
Mapping_targetC44E1
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00040589
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (205)
LaboratoryCB
StatusLive
AffectsGeneWBGene00006752
TranscriptZK524.2e.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZK524.2e.1:c.1768C>T
HGVSpCE34626:p.Gln590Ter
cDNA_position1768
CDS_position1768
Protein_position590
Exon_number13/30
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZK524.2c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZK524.2c.1:c.745C>T
HGVSpCE34624:p.Gln249Ter
cDNA_position745
CDS_position745
Protein_position249
Exon_number5/22
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZK524.2f.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZK524.2f.1:c.1777C>T
HGVSpCE43866:p.Gln593Ter
cDNA_position1777
CDS_position1777
Protein_position593
Exon_number13/30
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZK524.2j.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZK524.2j.1:c.1732C>T
HGVSpCE51718:p.Gln578Ter
cDNA_position1732
CDS_position1732
Protein_position578
Exon_number13/29
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZK524.2k.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZK524.2k.1:c.1723C>T
HGVSpCE51726:p.Gln575Ter
cDNA_position1723
CDS_position1723
Protein_position575
Exon_number13/29
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZK524.2a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZK524.2a.1:c.1768C>T
HGVSpCE15371:p.Gln590Ter
cDNA_position1768
CDS_position1768
Protein_position590
Exon_number13/30
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZK524.2i.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZK524.2i.1:c.1777C>T
HGVSpCE32552:p.Gln593Ter
cDNA_position1777
CDS_position1777
Protein_position593
Exon_number13/29
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZK524.2d.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZK524.2d.1:c.1768C>T
HGVSpCE34625:p.Gln590Ter
cDNA_position1768
CDS_position1768
Protein_position590
Exon_number13/31
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZK524.2h.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZK524.2h.1:c.745C>T
HGVSpCE51759:p.Gln249Ter
cDNA_position745
CDS_position745
Protein_position249
Exon_number5/21
Codon_changeCag/Tag
Amino_acid_changeQ/*
InteractorWBInteraction000518876
WBInteraction000519037
WBInteraction000536820
WBInteraction000536821
GeneticsInterpolated_map_positionI2.07407
Mapping_dataIn_2_point (14)
In_multi_point (75)
In_pos_neg_data (45)
DescriptionPhenotypeWBPhenotype:0000002Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarksimilar to e51 or slightly weakerPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000017Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarksimilar to e51 or slightly weakerPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000020Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarksimilar to e51 or slightly weakerPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000039Paper_evidenceWBPaper00042524
Curator_confirmedWBPerson2987
Remark"We found that rab-3p::xbp-1s expression increased neither lifespan nor ER stress resistance in a unc-13(e450) mutant background, strongly suggesting that communication between neurons and intestine through release of SCVs is essential for increased lifespan and stress resistance downstream of neuronal xbp-1s expression (Figures 7C and 7D). However, it should be noted that unc-13(e450) itself increases lifespan, complicating the interpretation of longevity data, and that as the mutation was not specific to neurons, loss of unc-13 activity in other tissues may have contributed to this loss of longevity and stress resistance."Paper_evidenceWBPaper00042524
Curator_confirmedWBPerson2987
Phenotype_assayGenotyperab-3p::xbp-1sPaper_evidenceWBPaper00042524
Curator_confirmedWBPerson2987
WBPhenotype:0000229Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarksimilar to e51 or slightly weakerPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000359Paper_evidenceWBPaper00042524
Curator_confirmedWBPerson2987
Remark"We found that rab-3p::xbp-1s expression increased neither lifespan nor ER stress resistance in a unc-13(e450) mutant background, strongly suggesting that communication between neurons and intestine through release of SCVs is essential for increased lifespan and stress resistance downstream of neuronal xbp-1s expression (Figures 7C and 7D). However, it should be noted that unc-13(e450) itself increases lifespan, complicating the interpretation of longevity data, and that as the mutation was not specific to neurons, loss of unc-13 activity in other tissues may have contributed to this loss of longevity and stress resistance."Paper_evidenceWBPaper00042524
Curator_confirmedWBPerson2987
Phenotype_assayGenotyperab-3p::xbp-1sPaper_evidenceWBPaper00042524
Curator_confirmedWBPerson2987
WBPhenotype:0000507Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkhigh acetylcholine levels, similar to e51 or slightly weakerPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000604Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkvariable neuroanatomical defects, similar to e51 or slightly weakerPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000644Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarksimilar to e51 or slightly weakerPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001278Paper_evidenceWBPaper00042524
Curator_confirmedWBPerson2987
Remark"When crossed with unc-13(e450), cell-nonautonomous UPR-ER activation in the intestine of rab-3p::xbp-1s; hsp-4p::GFP animals was reduced, but autonomous activation of the UPR-ER in the nervous system remained intact (Figures 7B and S6E)."Paper_evidenceWBPaper00042524
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0005772PATO:0000460Paper_evidenceWBPaper00042524
Curator_confirmedWBPerson2987
Phenotype_assayGenotyperab-3p::xbp-1s; hsp-4p::GFPPaper_evidenceWBPaper00042524
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000306Paper_evidenceWBPaper00042524
Curator_confirmedWBPerson2987
Remark"unc-13(e450) animals could activate the UPR-ER in the intestine upon expression of gly-19::xbp-1s, indicating that the ability to activate the UPR-ER cell autonomously in an unc-13(e450) mutant background was not lost (Figures S6F and S6G)."Paper_evidenceWBPaper00042524
Curator_confirmedWBPerson2987
Phenotype_assayGenotypegly-19::xbp-1s; hsp-4p::GFPPaper_evidenceWBPaper00042524
Curator_confirmedWBPerson2987
WBPhenotype:0001661Paper_evidenceWBPaper00003760
Curator_confirmedWBPerson2021
RemarkAsymmetric expression in AWC was normalPaper_evidenceWBPaper00003760
Curator_confirmedWBPerson2021
Reference (17)
MethodSubstitution_allele