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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_data3748
3967
3975
3985
3993
3999
4077
4086
4993
4998
5004
5047
5056
5067
5080
5097
5314
5328
5335
5342
5361
6140
6227
6332
6368
6388
6413
6441
6459
6468
6475
6482
6488
6494
6501
6518
6524
6531
6558
6598
6604
6609
6622
6633
6653
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