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WormBase Tree Display for Variation: WBVar00241264

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Name Class

WBVar00241264EvidencePaper_evidenceWBPaper00005204
NamePublic_nameqm150
Other_nameCE17071:p.Pro225Ser
F42G8.12.1:c.673C>T
HGVSgCHROMOSOME_IV:g.8134970G>A
Sequence_detailsSMapS_parentSequenceF42G8
Flanking_sequencesattggagtgtgcacccatcttggatgtgtccaattggtatgcagtcttttttctcctgaa
Mapping_targetF42G8
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00026669
WBStrain00026670
WBStrain00026672
WBStrain00026674
WBStrain00052465
LaboratoryMQ
StatusLive
Linked_toWBVar02146353
WBVar02146354
WBVar02146355
WBVar02146356
WBVar02146357
WBVar02146358
WBVar02146359
WBVar02146360
AffectsGeneWBGene00002162
TranscriptF42G8.12.1VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScF42G8.12.1:c.673C>T
HGVSpCE17071:p.Pro225Ser
cDNA_position688
CDS_position673
Protein_position225
Exon_number7/10
Codon_changeCca/Tca
Amino_acid_changeP/S
Interactor (45)
GeneticsInterpolated_map_positionIV3.6222
Mapping_dataIn_multi_point4448
DescriptionPhenotypeWBPhenotype:0000031Paper_evidenceWBPaper00035965
WBPaper00041212
Curator_confirmedWBPerson2021
WBPerson2987
Remarkisp-1 mutants are slow growing than wild-type animalsPaper_evidenceWBPaper00035965
Curator_confirmedWBPerson2021
"As previously demonstrated, both clk-1(qm30) and isp-1(qm150) worms developed considerably slower than wild-type animals [22,28]."Paper_evidenceWBPaper00041212
Curator_confirmedWBPerson2987
WBPhenotype:0000042Paper_evidenceWBPaper00046760
Curator_confirmedWBPerson2987
RemarkFigure 3ePaper_evidenceWBPaper00046760
Curator_confirmedWBPerson2987
WBPhenotype:0000061Paper_evidenceWBPaper00035965
WBPaper00027157
WBPaper00039835
WBPaper00040961
WBPaper00045028
Curator_confirmedWBPerson2021
WBPerson712
WBPerson557
WBPerson2987
Remarkisp-1 mutants live longer than wild-type animalsPaper_evidenceWBPaper00035965
Curator_confirmedWBPerson2021
Mutants are long-lived.Paper_evidenceWBPaper00027157
Curator_confirmedWBPerson712
"Even when this delay is taken into account, mutation of isp-1 significantly increased the lifespan of animals treated with atfs-1(RNAi) comparably to animals treated with empty vector RNAi (Fig. 6a), despite the fact that atfs-1(RNAi) completely prevented induction of GFP in isp-1(qm150) animals expressing the hsp-6p::gfp reporter (Fig. 6b)."Paper_evidenceWBPaper00045028
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeatfs-1(RNAi)Paper_evidenceWBPaper00045028
Curator_confirmedWBPerson2987
WBPhenotype:0000463Paper_evidenceWBPaper00041750
Curator_confirmedWBPerson2987
Remarkisp-1(qm150) mutants were found to produce several metabolite compounds in significantly altered amounts relative to wild-type worms. Long-lived isp-1(qm150) mutants markedly, and significantly, overproduce a variety of alpha-ketoacids and alpha-hydroxyacids relative to wild-type N2 worms (Figure 1, S1).Paper_evidenceWBPaper00041750
Curator_confirmedWBPerson2987
WBPhenotype:0000523Paper_evidenceWBPaper00058699
Curator_confirmedWBPerson712
RemarkWe found that isp-1 and atp-2 strains had decreased worm length when exposed to low concentrations of sodium arsenite. The isp-1 strain has decreased growth when exposed to low concentrations of sodium arsenite but does not appear to have differences in ATP content or lethality compared to N2 controls.Paper_evidenceWBPaper00058699
Curator_confirmedWBPerson712
ImageWBPicture0000014932Paper_evidenceWBPaper00058699
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00001860Paper_evidenceWBPaper00058699
Curator_confirmedWBPerson712
WBPhenotype:0001236Paper_evidenceWBPaper00041212
WBPaper00043917
WBPaper00045028
WBPaper00046760
Curator_confirmedWBPerson2987
Remark"We next investigated ATFS-1-dependent hsp-60pr::gfp activation in strains harboring the well-characterized clk-1(qm30) or isp- 1(qm150) mutations [26,27]... As both mutations affect respiration and display impaired development [22,23], we hypothesized that they would cause activation of the UPRmt. Indeed, hsp-60pr::gfp expression was consistently elevated in both strains consistent with the presence of mitochondrial stress. The isp-1(qm150) mutation caused considerably stronger hsp-60pr::gfp induction suggestive of a larger impact on mitochondrial function [29] (Figure 1B)."Paper_evidenceWBPaper00041212
Curator_confirmedWBPerson2987
"Genetic interference with the ETC by the introduction of a missense mutation in the isp-1 allele qm150 increases mitochondrial superoxide [34]. Supporting our previous findings, hsp-6::gfp was induced as well. GFP was constitutively expressed in the isp-1(qm150) mutant through all developmental stages and adulthood (Figure 3A)."Paper_evidenceWBPaper00043917
Curator_confirmedWBPerson2987
isp-1(qm150) causes induction of expression of GFP from the hsp-6 promoter (Figure 6b)Paper_evidenceWBPaper00045028
Curator_confirmedWBPerson2987
"The resulting isp-1(qm150);hsp-6::gfp strain showed a constitutive activation of hsp-6::gfp in larvae and adult worms, revealing a strong and continuous mitochondrial stress (Supplementary Note 7)."Paper_evidenceWBPaper00046760
Curator_confirmedWBPerson2987
EQ_annotationsGO_termGO:0034514PATO:0000460Paper_evidenceWBPaper00043917
WBPaper00046760
Curator_confirmedWBPerson2987
Phenotype_assayGenotypehsp-60pr::gfpPaper_evidenceWBPaper00041212
Curator_confirmedWBPerson2987
zcIs13 [Phsp-6::GFP]Paper_evidenceWBPaper00043917
Curator_confirmedWBPerson2987
zcIs13 [hsp-6p::gfp]Paper_evidenceWBPaper00045028
Curator_confirmedWBPerson2987
zcIs13[hsp-6::GFP]Paper_evidenceWBPaper00046760
Curator_confirmedWBPerson2987
WBPhenotype:0001273Paper_evidenceWBPaper00045263
Curator_confirmedWBPerson11905
RemarkExtremely low survival rate after treatment at 37C for 4 hours.Paper_evidenceWBPaper00045263
Curator_confirmedWBPerson11905
WBPhenotype:0001282Paper_evidenceWBPaper00047030
Curator_confirmedWBPerson25433
RemarkReduced maximal respiratory capacity, and increased proton leak measured in L4 stage nematodesPaper_evidenceWBPaper00047030
Curator_confirmedWBPerson25433
EQ_annotationsLife_stageWBls:0000038PATO:0000460Paper_evidenceWBPaper00047030
Curator_confirmedWBPerson25433
GO_termGO:0009060PATO:0000460Paper_evidenceWBPaper00047030
Curator_confirmedWBPerson25433
GO:0005739PATO:0000460Paper_evidenceWBPaper00047030
Curator_confirmedWBPerson25433
WBPhenotype:0001350Paper_evidenceWBPaper00041212
Curator_confirmedWBPerson2987
Remark"... phospho-eIF2a levels were increased relative to total eIF2a protein levels in the clk-1(qm30) mutant... (Figure 4A)... A similar result was observed in the isp-1(qm150) mutant... (Figure 4B)."Paper_evidenceWBPaper00041212
Curator_confirmedWBPerson2987
WBPhenotype:0001575Paper_evidenceWBPaper00045263
Curator_confirmedWBPerson11905
WBPhenotype:0002218Paper_evidenceWBPaper00049659
Curator_confirmedWBPerson3701
Affected_byMoleculeWBMol:00004596Paper_evidenceWBPaper00049659
Curator_confirmedWBPerson3701
Phenotype_not_observedWBPhenotype:0000727Paper_evidenceWBPaper00041750
Curator_confirmedWBPerson2987
RemarkDihydrolipoamide dehydrogenase (DLD) enzyme activity was unaffected by the isp-1(qm150) mutation (Figure 2G)Paper_evidenceWBPaper00041750
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentDLD activity in whole-worm extracts was determined spectrophotometrically, exactly as previously described (Bhaskaran et al., 2011).Paper_evidenceWBPaper00041750
Curator_confirmedWBPerson2987
Reference (24)
MethodSubstitution_allele