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WormBase Tree Display for Variation: WBVar00143220

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Name Class

WBVar00143220EvidencePaper_evidenceWBPaper00040589
NamePublic_namee450
Other_nameCE32552:p.Gln593Ter
CE34626:p.Gln590Ter
ZK524.2a.1:c.1768C>T
ZK524.2c.1:c.745C>T
CE34625:p.Gln590Ter
ZK524.2j.1:c.1732C>T
CE43866:p.Gln593Ter
CE51726:p.Gln575Ter
CE51718:p.Gln578Ter
ZK524.2h.1:c.745C>T
CE15371:p.Gln590Ter
ZK524.2k.1:c.1723C>T
ZK524.2i.1:c.1777C>T
ZK524.2e.1:c.1768C>T
ZK524.2f.1:c.1777C>T
ZK524.2d.1:c.1768C>T
CE51759:p.Gln249Ter
CE34624:p.Gln249Ter
HGVSgCHROMOSOME_I:g.7435173C>T
Sequence_detailsSMapS_parentSequenceC44E1
Flanking_sequencesattcaagaagaagaggaaaaaaggaattataggaactttggcataatgcttacaagagag
Mapping_targetC44E1
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00040589
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00000065
WBStrain00000067
WBStrain00004170
WBStrain00006271
WBStrain00006273
WBStrain00006274
WBStrain00023658
WBStrain00023659
WBStrain00023660
WBStrain00023661
WBStrain00023662
WBStrain00023663
WBStrain00023664
WBStrain00023666
WBStrain00023667
WBStrain00023668
WBStrain00023669
WBStrain00023670
WBStrain00023671
WBStrain00023672
WBStrain00023673
WBStrain00023674
WBStrain00023675
WBStrain00023676
WBStrain00023677
WBStrain00023678
WBStrain00023679
WBStrain00023680
WBStrain00023682
WBStrain00023683
WBStrain00023684
WBStrain00023685
WBStrain00023686
WBStrain00023687
WBStrain00023688
WBStrain00023689
WBStrain00023690
WBStrain00023691
WBStrain00023692
WBStrain00023693
WBStrain00023694
WBStrain00023695
WBStrain00023696
WBStrain00023697
WBStrain00023698
WBStrain00023699
WBStrain00023700
WBStrain00023702
WBStrain00023703
WBStrain00023705
WBStrain00023706
WBStrain00023707
WBStrain00023708
WBStrain00023711
WBStrain00023712
WBStrain00023713
WBStrain00023714
WBStrain00023715
WBStrain00023717
WBStrain00023718
WBStrain00023720
WBStrain00023722
WBStrain00023723
WBStrain00023724
WBStrain00023725
WBStrain00023726
WBStrain00023727
WBStrain00023728
WBStrain00023729
WBStrain00023730
WBStrain00023732
WBStrain00023734
WBStrain00023736
WBStrain00023737
WBStrain00023739
WBStrain00023740
WBStrain00023741
WBStrain00023742
WBStrain00023743
WBStrain00023744
WBStrain00023745
WBStrain00023746
WBStrain00023747
WBStrain00023748
WBStrain00023749
WBStrain00023750
WBStrain00023751
WBStrain00023752
WBStrain00023753
WBStrain00023754
WBStrain00023755
WBStrain00023756
WBStrain00023757
WBStrain00023758
WBStrain00023759
WBStrain00023760
WBStrain00023761
WBStrain00023762
WBStrain00023763
WBStrain00023764
WBStrain00023765
WBStrain00023766
WBStrain00023767
WBStrain00023768
WBStrain00023769
WBStrain00023770
WBStrain00023774
WBStrain00023777
WBStrain00023779
WBStrain00023780
WBStrain00023784
WBStrain00023787
WBStrain00023788
WBStrain00023789
WBStrain00023790
WBStrain00023791
WBStrain00023792
WBStrain00023794
WBStrain00023798
WBStrain00023799
WBStrain00023800
WBStrain00023801
WBStrain00023802
WBStrain00023803
WBStrain00023805
WBStrain00023807
WBStrain00023808
WBStrain00023809
WBStrain00023810
WBStrain00023811
WBStrain00023812
WBStrain00023814
WBStrain00023819
WBStrain00023821
WBStrain00023835
WBStrain00023836
WBStrain00023839
WBStrain00023840
WBStrain00023841
WBStrain00023842
WBStrain00023843
WBStrain00023844
WBStrain00023845
WBStrain00023846
WBStrain00023847
WBStrain00023849
WBStrain00023850
WBStrain00023851
WBStrain00023852
WBStrain00023853
WBStrain00023854
WBStrain00023855
WBStrain00023856
WBStrain00023857
WBStrain00023858
WBStrain00023859
WBStrain00023860
WBStrain00023861
WBStrain00023862
WBStrain00023863
WBStrain00023864
WBStrain00023865
WBStrain00023869
WBStrain00023870
WBStrain00023871
WBStrain00023872
WBStrain00023873
WBStrain00023874
WBStrain00023876
WBStrain00023878
WBStrain00023879
WBStrain00023880
WBStrain00023881
WBStrain00023884
WBStrain00023886
WBStrain00023887
WBStrain00023891
WBStrain00023892
WBStrain00023893
WBStrain00023894
WBStrain00023895
WBStrain00023897
WBStrain00023899
WBStrain00023903
WBStrain00023904
WBStrain00023905
WBStrain00023906
WBStrain00023907
WBStrain00023908
WBStrain00023909
WBStrain00023911
WBStrain00023912
WBStrain00023913
WBStrain00023914
WBStrain00023915
WBStrain00023916
WBStrain00023917
WBStrain00023918
WBStrain00023919
WBStrain00023920
WBStrain00023921
WBStrain00023922
WBStrain00023923
WBStrain00023932
WBStrain00023933
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_point3194
5226
5231
5247
5253
6034
6065
6066
6067
6068
6069
6081
6084
6086
In_multi_point31
37
238
239
240
979
997
1004
1005
1006
1007
1008
1009
1010
1011
1012
1013
1014
1015
1016
1017
1018
1019
1020
1021
1022
1023
1024
1025
1026
1027
1028
1029
1030
1031
1032
1033
1034
1035
1036
1037
1038
1039
1040
1041
1042
1224
1225
1226
1241
1451
1452
1454
1455
1456
1462
1463
1464
1466
2139
2140
2141
2142
2143
2144
2145
2146
2147
2148
2149
2150
2299
3307
3308
3310
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
ReferenceWBPaper00016541
WBPaper00016542
WBPaper00040589
WBPaper00029020
WBPaper00014587
WBPaper00016498
WBPaper00016569
WBPaper00013927
WBPaper00003760
WBPaper00016086
WBPaper00013745
WBPaper00016275
WBPaper00013815
WBPaper00013819
WBPaper00042524
WBPaper00064979
WBPaper00065802
MethodSubstitution_allele