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WormBase Tree Display for Variation: WBVar00091574

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Name Class

WBVar00091574NamePublic_nameok275
Other_nameF46C3.1.1:c.280-15_1760del
HGVSgCHROMOSOME_X:g.11412305_11414317del
Sequence_detailsSMapS_parentSequenceF46C3
Flanking_sequencesgtgaatccttcgagacttgagcgtgaaatcATTACTTTCCGTATTGGAATAATTAACTAG
Mapping_targetF46C3
Type_of_mutationDeletion
PCR_productOK275_external
OK275_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00031350
LaboratoryRB
PersonWBPerson46
KO_consortium_allele
StatusLive
AffectsGeneWBGene00003970
TranscriptF46C3.1.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScF46C3.1.1:c.280-15_1760del
cDNA_position?-1836
CDS_position?-1760
Protein_position?-587
Intron_number3-8/13
Exon_number4-9/14
Interactor (38)
IsolationMutagenUV/TMP
GeneticsMapping_dataIn_multi_point4569
DescriptionPhenotypeWBPhenotype:0000119Paper_evidenceWBPaper00036076
Curator_confirmedWBPerson2987
Remark"To examine whether RNF-121 protein level is regulated by the PEK-1 pathway , we performed immunoblot analysis of RNF-121 : : GFP worms treated with tunicamycin and DTT . Although the level of RNF-121 increases after ER stress in wild-type background , it is constantly high in pek-1 ( ok275 ) worms ( Figure 3C ) and does not increase after ER stress . It suggests that PEK-1 pathway activates RNF-121 translation or protein stability under ER stress conditions , whereas inactivation of PEK-1 during development in the pek- 1 ( ok275 ) mutant may cause ER stress and up-regulation of RNF-121 by an alternative pathway ."Paper_evidenceWBPaper00036076
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeRNF-121 : : GFPPaper_evidenceWBPaper00036076
Curator_confirmedWBPerson2987
WBPhenotype:0000135Paper_evidenceWBPaper00005044
Curator_confirmedWBPerson712
RemarkThe basal expression of both hsp-3 and hsp-4 was increased in the pek-1(ok275) mutant.Paper_evidenceWBPaper00005044
Curator_confirmedWBPerson712
WBPhenotype:0000136Paper_evidenceWBPaper00036076
WBPaper00041065
Curator_confirmedWBPerson2987
Remark"To determine whether the transcription of rnf-121 is regulated by PEK-1 and the UPR pathway in C . elegans , we performed a real-time PCR analysis of the mutant strains pek-1 ( ok275 ) , ire-1 ( v33 ) , and atf-6 ( ok551 ) , as well as of wild-type worms , treated with the UPR inducers DTT , tunicamycin , and thapsigargin . Although the mRNA levels of hsp-4 were induced upon tunicamycin or DTT treatment and in pek-1 ( ok275 ) and atf-6 ( ok551 ) mutant backgrounds , and abolished in ire-1 ( v33 ) as shown previously ( Shen et al. , 2001 ) , the levels of rnf-121 mRNA were largely unaffected ( Figure 3B ) ."Paper_evidenceWBPaper00036076
Curator_confirmedWBPerson2987
The pek-1(ok275) mutation resulted in increased mRNA levels of genes F48E8.6 and ZK1098.4 (Table 1)Paper_evidenceWBPaper00041065
Curator_confirmedWBPerson2987
WBPhenotype:0000137Paper_evidenceWBPaper00035294
WBPaper00041065
Curator_confirmedWBPerson2987
Remark"In the control wild-type N2 worms, expression of ubiquilin and erasin transcripts increased after 6 h of tunicamycin treatment (Fig. 8). However, the induction of both genes was almost completely attenuated in ire-1(v33) mutant worms, and partially attenuated in the atf-6(ok551) and pek-1(ok275) mutants (Fig. 8). Together, these results indicate that in C. elegans, both ubiquilin and erasin genes are chiefly regulated by ire-1."Paper_evidenceWBPaper00035294
Curator_confirmedWBPerson2987
The pek-1(ok275) mutation resulted in decreased mRNA levels of the gene Y39G10AR.8 (Table 1)Paper_evidenceWBPaper00041065
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00004565Paper_evidenceWBPaper00035294
Curator_confirmedWBPerson2987
WBPhenotype:0000199Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
Remark"Although less pronounced than gcn-1, loss-of-function mutations in a C. elegans PERK homolog, pek-1 (Shen et_al 2001), also suppressed the ray defect in plx-1/smp-1 smp-2 mutants (Fig 1I; Supplemental Table S2) and reduced P-eIF2α (Fig 2A)"Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeplx-1(nc37)Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
smp-1(ev715) smp-2(ev709)Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
plx-1(ev724)Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
WBPhenotype:0000273Paper_evidenceWBPaper00058677
Curator_confirmedWBPerson10038
RemarkPartial blockage of secondary gene's ability to suppress severe behavioral defects: "pek-1 loss of function partially blocks the ability of neuronal overexpression of xbp-1s in Tau (high)animals to suppress severe behavioral defects observed in a liquid environment" (Figure 4a)Paper_evidenceWBPaper00058677
Curator_confirmedWBPerson10038
PenetranceCompletePaper_evidenceWBPaper00058677
Curator_confirmedWBPerson10038
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00058677
Curator_confirmedWBPerson10038
Phenotype_assayGenotypeaex-3p::hTau (4R1N); myo-2p::gfp; uthls270 [rab-3p::xbp-1s; myo-2p::tdTomato]Paper_evidenceWBPaper00058677
Curator_confirmedWBPerson10038
WBPhenotype:0001351Paper_evidenceWBPaper00031700
WBPaper00037064
WBPaper00040453
Curator_confirmedWBPerson2987
Remark"Although less pronounced than gcn-1, loss-of-function mutations in a C. elegans PERK homolog, pek-1 (Shen et_al 2001), also suppressed the ray defect in plx-1/smp-1 smp-2 mutants (Fig 1I; Supplemental Table S2) and reduced P-eIF2α (Fig 2A)"Paper_evidenceWBPaper00031700
Curator_confirmedWBPerson2987
"On the other hand, the significant hypoxic induction of p-eIF2α was blocked in pek-1(ok275), a mutant with normal HP (Fig. 6C)."Paper_evidenceWBPaper00037064
Curator_confirmedWBPerson2987
pek-1(ok275) suppresses the tunicamycin-induced or xbp-1-mutation-induced phosphorylation of eIF2α (Figure 2A, S1A)Paper_evidenceWBPaper00040453
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00004565Paper_evidenceWBPaper00040453
Curator_confirmedWBPerson2987
WBPhenotype:0001724Paper_evidenceWBPaper00005044
WBPaper00032255
WBPaper00036076
Curator_confirmedWBPerson712
WBPerson2987
RemarkOnly 35% of pek-1(ok275) mutants on plates with 2 ug/ml of tunicamycin matured to the L4 stage or older, 31% arrested at or prior to the L3 stage, and 34% were dead. N2 animals were resistant to this concentration.Paper_evidenceWBPaper00005044
Curator_confirmedWBPerson712
Mutant animals are more readily killed by tunicamycin.Paper_evidenceWBPaper00032255
Curator_confirmedWBPerson712
"The ire-1 ( v33 ) and pek-1 ( ok275 ) mutant strains are more sensitive to tunicamycin than the wild-type ( Figure 3A , bars ; Shen et al . , 2001 ) , whereas atf-6 ( ok551 ) worms are less sensitive to tunicamycin ( Shen et al. , 2005 ) , and in our hands are more resistant than the wild type ( Figure 3A , bars ) ."Paper_evidenceWBPaper00036076
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00004565Paper_evidenceWBPaper00005044
WBPaper00032255
WBPaper00036076
Curator_confirmedWBPerson712
WBPerson2987
EQ_annotationsLife_stageWBls:0000035PATO:0000460Paper_evidenceWBPaper00005044
Curator_confirmedWBPerson712
Phenotype_not_observed (17)
Reference (14)
RemarkSequenced by the C. elegans Gene Knockout ConsortiumPaper_evidenceWBPaper00041807
MethodKO_consortium_allele