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WormBase Tree Display for Variation: WBVar00088970

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Name Class

WBVar00088970EvidencePerson_evidenceWBPerson7217
NamePublic_namemg451
Other_nameCE45435:p.Arg1370Ter
CE43301:p.Arg1368Ter
CE45505:p.Arg558Ter
F29C12.3b.1:c.4108C>T
F29C12.3c.1:c.1672C>T
F29C12.3a.1:c.4102C>T
HGVSgCHROMOSOME_II:g.13101535G>A
Sequence_detailsSMapS_parentSequenceF29C12
Flanking_sequencesGAAAAGTACCATTTGACGGCGTTCCGAGTGGAGCTTGTCTTCAAATTACACGTCATGTTG
Mapping_targetF29C12
Type_of_mutationSubstitutionctPerson_evidenceWBPerson7217
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryGR
StatusLive
AffectsGeneWBGene00009245
TranscriptF29C12.3b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF29C12.3b.1:c.4108C>T
HGVSpCE45435:p.Arg1370Ter
cDNA_position4113
CDS_position4108
Protein_position1370
Exon_number14/18
Codon_changeCga/Tga
Amino_acid_changeR/*
F29C12.3c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF29C12.3c.1:c.1672C>T
HGVSpCE45505:p.Arg558Ter
cDNA_position1672
CDS_position1672
Protein_position558
Exon_number4/7
Codon_changeCga/Tga
Amino_acid_changeR/*
F29C12.3a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF29C12.3a.1:c.4102C>T
HGVSpCE43301:p.Arg1368Ter
cDNA_position4111
CDS_position4102
Protein_position1368
Exon_number14/18
Codon_changeCga/Tga
Amino_acid_changeR/*
IsolationMutagenEMS
GeneticsInterpolated_map_positionII14.2518
DescriptionPhenotypeWBPhenotype:0000031Paper_evidenceWBPaper00032936
Person_evidenceWBPerson7217
Curator_confirmedWBPerson2021
RemarkGrowth delayPerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
rict-1 mutants are delayed 16 h in reaching reproductive maturity. Time to reproductive maturity was further delayed by >2.5 h in response to HB101Paper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
PenetranceCompletePerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00032936
Person_evidenceWBPerson7217
Curator_confirmedWBPerson2021
Variation_effectLoss_of_function_undetermined_extentPerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
Probable_null_via_phenotypePaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
WBPhenotype:0000039Person_evidenceWBPerson7217
Curator_confirmedWBPerson2021
RemarkShort-lived on OP50, long-lived on HB101Person_evidenceWBPerson7217
Curator_confirmedWBPerson2021
PenetranceCompletePerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
RecessivePerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
Variation_effectLoss_of_function_undetermined_extentPerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
WBPhenotype:0000154Paper_evidenceWBPaper00032936
Person_evidenceWBPerson7217
Curator_confirmedWBPerson2021
RemarkDecreased brood sizePerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
rict-1 mutants display an attenuated brood size of 30%-50% as compared with wild type. Total brood size decreased in the stronger mg451 allele in response to HB101Paper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
PenetranceCompletePerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00032936
Person_evidenceWBPerson7217
Curator_confirmedWBPerson2021
Variation_effectLoss_of_function_undetermined_extentPerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
Probable_null_via_phenotypePaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
WBPhenotype:0000229Paper_evidenceWBPaper00032936
Person_evidenceWBPerson7217
Curator_confirmedWBPerson2021
RemarkSmallPerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
Mature mutant adults are smaller compared to age matched controls. Body size was further decreased in response to HB101Paper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
PenetranceCompletePerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00032936
Person_evidenceWBPerson7217
Curator_confirmedWBPerson2021
Variation_effectLoss_of_function_undetermined_extentPerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
Probable_null_via_phenotypePaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
WBPhenotype:0001171Paper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
Remarkrict-1 mutants display an increased rate of aging and were shortlived on OP50Paper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
WBPhenotype:0001184Paper_evidenceWBPaper00032936
Person_evidenceWBPerson7217
Curator_confirmedWBPerson2021
RemarkElevated fat massPerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
When fed OP50, rict-1 mutants display a 200%-300% increase in BODIPY fat content as day 3 adults. Oil-Red-O staining confirms elevated fat mass in rict-1 mutants fed E. coli OP50. Triglyceride mass in day 1 adult rict-1 mutants was 30% elevatedPaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
PenetranceCompletePerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00032936
Person_evidenceWBPerson7217
Curator_confirmedWBPerson2021
Variation_effectLoss_of_function_undetermined_extentPerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
Probable_null_via_phenotypePaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentnile red stainingPerson_evidenceWBPerson7217
Curator_confirmedWBPerson2021
Staining with BODIPY-labeled fatty acid vital dye and Oil-Red-O. Solid-phase chromatography followed by gas chromatography/mass spectroscopyPaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
WBPhenotype:0001835Paper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
RemarkDecreased oxygen consumption was seen in rict-1 animalsPaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
WBPhenotype:0001837Paper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
Remarkrict-1 mutants feeding on HB101 have a profoundly extended life span, unlike wild-type. Similar observations were made when mutants were fed the E. coli strain HT115Paper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
Phenotype_not_observedWBPhenotype:0001006Paper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
RemarkNo increase in food consumptionPaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00032936
Curator_confirmedWBPerson2021
ReferenceWBPaper00032936
MethodSubstitution_allele