WormBase Tree Display for Variation: WBVar00143220
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| WBVar00143220 | Evidence | Paper_evidence | WBPaper00040589 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | e450 | |||||||
| Other_name (18) | |||||||||
| HGVSg | CHROMOSOME_I:g.7435173C>T | ||||||||
| Sequence_details | SMap | S_parent | Sequence | C44E1 | |||||
| Flanking_sequences | attcaagaagaagaggaaaaaaggaattat | aggaactttggcataatgcttacaagagag | |||||||
| Mapping_target | C44E1 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00040589 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00000065 | ||||||||
| WBStrain00000067 | |||||||||
| WBStrain00004170 | |||||||||
| WBStrain00006271 | |||||||||
| WBStrain00006273 | |||||||||
| WBStrain00006274 | |||||||||
| WBStrain00023658 | |||||||||
| WBStrain00023659 | |||||||||
| WBStrain00023660 | |||||||||
| WBStrain00023661 | |||||||||
| WBStrain00023662 | |||||||||
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| WBStrain00023664 | |||||||||
| WBStrain00023666 | |||||||||
| WBStrain00023667 | |||||||||
| WBStrain00023668 | |||||||||
| WBStrain00023669 | |||||||||
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| WBStrain00023671 | |||||||||
| WBStrain00023672 | |||||||||
| WBStrain00023673 | |||||||||
| WBStrain00023674 | |||||||||
| WBStrain00023675 | |||||||||
| WBStrain00023676 | |||||||||
| WBStrain00023677 | |||||||||
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| WBStrain00023680 | |||||||||
| WBStrain00023682 | |||||||||
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| WBStrain00023685 | |||||||||
| WBStrain00023686 | |||||||||
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| WBStrain00023688 | |||||||||
| WBStrain00023689 | |||||||||
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| WBStrain00023699 | |||||||||
| WBStrain00023700 | |||||||||
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| WBStrain00023720 | |||||||||
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| WBStrain00023751 | |||||||||
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| WBStrain00023851 | |||||||||
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| WBStrain00023871 | |||||||||
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| WBStrain00023895 | |||||||||
| WBStrain00023897 | |||||||||
| WBStrain00023899 | |||||||||
| WBStrain00023903 | |||||||||
| WBStrain00023904 | |||||||||
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| WBStrain00023920 | |||||||||
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| WBStrain00023922 | |||||||||
| WBStrain00023923 | |||||||||
| WBStrain00023932 | |||||||||
| WBStrain00023933 | |||||||||
| Laboratory | CB | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00006752 | |||||||
| Transcript | ZK524.2e.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK524.2e.1:c.1768C>T | ||||||||
| HGVSp | CE34626:p.Gln590Ter | ||||||||
| cDNA_position | 1768 | ||||||||
| CDS_position | 1768 | ||||||||
| Protein_position | 590 | ||||||||
| Exon_number | 13/30 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| ZK524.2c.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK524.2c.1:c.745C>T | ||||||||
| HGVSp | CE34624:p.Gln249Ter | ||||||||
| cDNA_position | 745 | ||||||||
| CDS_position | 745 | ||||||||
| Protein_position | 249 | ||||||||
| Exon_number | 5/22 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| ZK524.2f.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK524.2f.1:c.1777C>T | ||||||||
| HGVSp | CE43866:p.Gln593Ter | ||||||||
| cDNA_position | 1777 | ||||||||
| CDS_position | 1777 | ||||||||
| Protein_position | 593 | ||||||||
| Exon_number | 13/30 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| ZK524.2j.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK524.2j.1:c.1732C>T | ||||||||
| HGVSp | CE51718:p.Gln578Ter | ||||||||
| cDNA_position | 1732 | ||||||||
| CDS_position | 1732 | ||||||||
| Protein_position | 578 | ||||||||
| Exon_number | 13/29 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| ZK524.2k.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK524.2k.1:c.1723C>T | ||||||||
| HGVSp | CE51726:p.Gln575Ter | ||||||||
| cDNA_position | 1723 | ||||||||
| CDS_position | 1723 | ||||||||
| Protein_position | 575 | ||||||||
| Exon_number | 13/29 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| ZK524.2a.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK524.2a.1:c.1768C>T | ||||||||
| HGVSp | CE15371:p.Gln590Ter | ||||||||
| cDNA_position | 1768 | ||||||||
| CDS_position | 1768 | ||||||||
| Protein_position | 590 | ||||||||
| Exon_number | 13/30 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| ZK524.2i.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK524.2i.1:c.1777C>T | ||||||||
| HGVSp | CE32552:p.Gln593Ter | ||||||||
| cDNA_position | 1777 | ||||||||
| CDS_position | 1777 | ||||||||
| Protein_position | 593 | ||||||||
| Exon_number | 13/29 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| ZK524.2d.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK524.2d.1:c.1768C>T | ||||||||
| HGVSp | CE34625:p.Gln590Ter | ||||||||
| cDNA_position | 1768 | ||||||||
| CDS_position | 1768 | ||||||||
| Protein_position | 590 | ||||||||
| Exon_number | 13/31 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| ZK524.2h.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK524.2h.1:c.745C>T | ||||||||
| HGVSp | CE51759:p.Gln249Ter | ||||||||
| cDNA_position | 745 | ||||||||
| CDS_position | 745 | ||||||||
| Protein_position | 249 | ||||||||
| Exon_number | 5/21 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Interactor | WBInteraction000518876 | ||||||||
| WBInteraction000519037 | |||||||||
| WBInteraction000536820 | |||||||||
| WBInteraction000536821 | |||||||||
| Genetics | Interpolated_map_position | I | 2.07407 | ||||||
| Mapping_data | In_2_point (14) | ||||||||
| In_multi_point (75) | |||||||||
| In_pos_neg_data (45) | |||||||||
| Description | Phenotype | WBPhenotype:0000002 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | similar to e51 or slightly weaker | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000017 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | similar to e51 or slightly weaker | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000020 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | similar to e51 or slightly weaker | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000039 | Paper_evidence | WBPaper00042524 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| 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_evidence | WBPaper00042524 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | rab-3p::xbp-1s | Paper_evidence | WBPaper00042524 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0000229 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | similar to e51 or slightly weaker | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000359 | Paper_evidence | WBPaper00042524 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| 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_evidence | WBPaper00042524 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | rab-3p::xbp-1s | Paper_evidence | WBPaper00042524 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0000507 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | high acetylcholine levels, similar to e51 or slightly weaker | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000604 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | variable neuroanatomical defects, similar to e51 or slightly weaker | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000644 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | similar to e51 or slightly weaker | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001278 | Paper_evidence | WBPaper00042524 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| 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_evidence | WBPaper00042524 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0005772 | PATO:0000460 | Paper_evidence | WBPaper00042524 | ||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | rab-3p::xbp-1s; hsp-4p::GFP | Paper_evidence | WBPaper00042524 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_not_observed | WBPhenotype:0000306 | Paper_evidence | WBPaper00042524 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| 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_evidence | WBPaper00042524 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | gly-19::xbp-1s; hsp-4p::GFP | Paper_evidence | WBPaper00042524 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0001661 | Paper_evidence | WBPaper00003760 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Remark | Asymmetric expression in AWC was normal | Paper_evidence | WBPaper00003760 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Reference (17) | |||||||||
| Method | Substitution_allele |
