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WormBase Tree Display for Variation: WBVar00091728

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Name Class

WBVar00091728NamePublic_nameok434
Other_nameR11A8.4a.1:c.810_1501-14del
R11A8.4b.1:c.720_1411-14del
HGVSgCHROMOSOME_IV:g.10363970_10364735del
Sequence_detailsSMapS_parentSequenceR11A8
Flanking_sequencesggtttgatgagcagaaatctgaagaaaaaaatttttgtccacaacgtgtacatgtacatt
Mapping_targetR11A8
Type_of_mutationInsertiontt
Deletion
PCR_productOK434_external
OK434_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00022167
WBStrain00026544
WBStrain00035578
WBStrain00047283
LaboratoryRB
PersonWBPerson46
KO_consortium_allele
StatusLive
AffectsGeneWBGene00004800
TranscriptR11A8.4a.1VEP_consequencesplice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScR11A8.4a.1:c.810_1501-14del
cDNA_position850-?
CDS_position809-?
Protein_position270-?
Intron_number6/8
Exon_number6/9
R11A8.4b.1VEP_consequencesplice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScR11A8.4b.1:c.720_1411-14del
cDNA_position719-?
CDS_position719-?
Protein_position240-?
Intron_number4/5
Exon_number4/6
Interactor (22)
GeneticsMapping_dataIn_multi_point4660
DescriptionPhenotypeWBPhenotype:0000039Paper_evidenceWBPaper00047022
Curator_confirmedWBPerson557
RemarkOtophylloside B (Ot B), a C-21 steroidal glycoside, extended adult lifespan in C. elegans (N2 strain). Authors showed that Ot B could not lengthen the lifespan of the long-lived sir-2.1(ok434) mutant. Thus, they postulate that SIR-2.1 is necessary for Ot B-mediated lifespan extension.Paper_evidenceWBPaper00047022
Curator_confirmedWBPerson557
Affected_byMoleculeWBMol:00007846Paper_evidenceWBPaper00047022
Curator_confirmedWBPerson557
Phenotype_assayTreatmentAnimals grown on 50uM Otophylloside (Ot B). Ot B is a C-21 steroidal glycoside isolated from Qingyangshen (Cynanchum otophyllum schneid), a herbaceous plant used in traditional Chinese medicine.Paper_evidenceWBPaper00047022
Curator_confirmedWBPerson557
WBPhenotype:0000119Paper_evidenceWBPaper00036476
Curator_confirmedWBPerson712
RemarkNuclear levels of SBP-1::GFP are robust in fasted SBP-1::GFP; sir-2.1 (lof) intestines, whereas they are significantly decreased in control animals under the same conditions.Paper_evidenceWBPaper00036476
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00036476
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005772PATO:0000460Paper_evidenceWBPaper00036476
Curator_confirmedWBPerson712
WBPhenotype:0000631Paper_evidenceWBPaper00038093
Curator_confirmedWBPerson712
RemarkNo life span extending effect was observed for mutants fed polyphenol-enriched cocoa powder.Paper_evidenceWBPaper00038093
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00002995Paper_evidenceWBPaper00038093
Curator_confirmedWBPerson712
WBPhenotype:0001171Paper_evidenceWBPaper00029007
Curator_confirmedWBPerson557
RemarkweakPaper_evidenceWBPaper00029007
Curator_confirmedWBPerson557
WBPhenotype:0001184Paper_evidenceWBPaper00036476
Curator_confirmedWBPerson712
RemarkSudan Black staining reveals animals exhibit high levels of lipid under both normal and fasted conditions.Paper_evidenceWBPaper00036476
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00036476
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005772PATO:0000460Paper_evidenceWBPaper00036476
Curator_confirmedWBPerson712
WBPhenotype:0001348Paper_evidenceWBPaper00046016
Curator_confirmedWBPerson557
RemarkDecreased X chromosome compaction leading to enlarged X chromosomes.Paper_evidenceWBPaper00046016
Curator_confirmedWBPerson557
WBPhenotype:0001361Paper_evidenceWBPaper00046016
Curator_confirmedWBPerson557
RemarkDecreased X chromosome compaction leading to enlarged X chromosomes.Paper_evidenceWBPaper00046016
Curator_confirmedWBPerson557
WBPhenotype:0001620Paper_evidenceWBPaper00038093
Curator_confirmedWBPerson712
RemarkThis mutant did not possess resistance to oxidative stress when fed with polyphenol enriched cocoa powder.Paper_evidenceWBPaper00038093
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00001695Paper_evidenceWBPaper00038093
Curator_confirmedWBPerson712
WBMol:00002995Paper_evidenceWBPaper00038093
Curator_confirmedWBPerson712
WBPhenotype:0001871Paper_evidenceWBPaper00026929
WBPaper00031326
Curator_confirmedWBPerson712
WBPerson2857
RemarkWhile wild-type worms demonstrated a significant increase in life span in the presence of 1 mM resveratrol, neither sir-2.1 mutant strain showed a significant change in life span at any of the concentrations of resveratrol tested.Paper_evidenceWBPaper00026929
Curator_confirmedWBPerson712
animals are not long-lived when grown in hydrogen sulfidePaper_evidenceWBPaper00031326
Curator_confirmedWBPerson2857
Affected_byMoleculeWBMol:00004910Paper_evidenceWBPaper00026929
Curator_confirmedWBPerson712
WBPhenotype:0002539Paper_evidenceWBPaper00047109
Curator_confirmedWBPerson15627
RemarkFig 1D, the expression of the genes lys-1, lys-7, lys-8, F01D5.5, F56D6.2, C17H12.8, C29F3.7, K08D8.5 is increased in the mutant sir-2.1(ok434)Paper_evidenceWBPaper00047109
Curator_confirmedWBPerson15627
Phenotype_not_observedWBPhenotype:0000114Paper_evidenceWBPaper00036476
Curator_confirmedWBPerson712
RemarkTranscript levels of sbp-1 are only very modestly altered by the loss of sir-2.1.Paper_evidenceWBPaper00036476
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00036476
Curator_confirmedWBPerson712
WBPhenotype:0000631Paper_evidenceWBPaper00046162
Curator_confirmedWBPerson2857
Remarkanimals are protected from effects of hypoxia on proteostasis by exposure to hydrogen sulfide similar to wild-typePaper_evidenceWBPaper00046162
Curator_confirmedWBPerson2857
Affected_byMoleculeWBMol:00004296Paper_evidenceWBPaper00046162
Curator_confirmedWBPerson2857
WBPhenotype:0000966Paper_evidenceWBPaper00028759
Curator_confirmedWBPerson557
Remarkgermline is immortal at 20 and 25 degrees CelsiusPaper_evidenceWBPaper00028759
Curator_confirmedWBPerson557
Phenotype_assayTreatmentStrains propagated for many generations and checked for sterilityPaper_evidenceWBPaper00028759
Curator_confirmedWBPerson557
WBPhenotype:0001012Paper_evidenceWBPaper00032003
Curator_confirmedWBPerson712
RemarkAnimals were not more resistant than wild-type animals to S. enterica-mediated killing.Paper_evidenceWBPaper00032003
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00032003
Curator_confirmedWBPerson712
Phenotype_assayTreatmentA total of 20 ml of culture was plated onto a 3.5 cm plate containing modified NGM (3.5% peptone instead of 2.5%). Synchronized one-day-old adult hermaphroditic nematodes were transferred to lawns of the various bacteria and transferred daily to a fresh lawn until progeny were no longer produced.Paper_evidenceWBPaper00032003
Curator_confirmedWBPerson712
Temperature25Paper_evidenceWBPaper00032003
Curator_confirmedWBPerson712
WBPhenotype:0001991Paper_evidenceWBPaper00046162
Curator_confirmedWBPerson2857
Remarkanimals develop the same number of polyglutamine aggregates as wild-type when exposed to environment with only 1000 ppm oxygenPaper_evidenceWBPaper00046162
Curator_confirmedWBPerson2857
Disease_infoModels_diseaseDOID:1574
Models_disease_in_annotationWBDOannot00000675
Reference (14)
RemarkSequenced by the C. elegans Gene Knockout ConsortiumPaper_evidenceWBPaper00041807
MethodKO_consortium_allele