WormBase Tree Display for Variation: WBVar00088970
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WBVar00088970 | Evidence | Person_evidence | WBPerson7217 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | mg451 | |||||||
Other_name | CE45435: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 | |||||||||
HGVSg | CHROMOSOME_II:g.13101535G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | F29C12 | |||||
Flanking_sequences | GAAAAGTACCATTTGACGGCGTTCCGAGTG | GAGCTTGTCTTCAAATTACACGTCATGTTG | |||||||
Mapping_target | F29C12 | ||||||||
Type_of_mutation | Substitution | c | t | Person_evidence | WBPerson7217 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | GR | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00009245 | |||||||
Transcript | F29C12.3b.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | F29C12.3b.1:c.4108C>T | ||||||||
HGVSp | CE45435:p.Arg1370Ter | ||||||||
cDNA_position | 4113 | ||||||||
CDS_position | 4108 | ||||||||
Protein_position | 1370 | ||||||||
Exon_number | 14/18 | ||||||||
Codon_change | Cga/Tga | ||||||||
Amino_acid_change | R/* | ||||||||
F29C12.3c.1 | VEP_consequence | stop_gained | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F29C12.3c.1:c.1672C>T | ||||||||
HGVSp | CE45505:p.Arg558Ter | ||||||||
cDNA_position | 1672 | ||||||||
CDS_position | 1672 | ||||||||
Protein_position | 558 | ||||||||
Exon_number | 4/7 | ||||||||
Codon_change | Cga/Tga | ||||||||
Amino_acid_change | R/* | ||||||||
F29C12.3a.1 | VEP_consequence | stop_gained | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F29C12.3a.1:c.4102C>T | ||||||||
HGVSp | CE43301:p.Arg1368Ter | ||||||||
cDNA_position | 4111 | ||||||||
CDS_position | 4102 | ||||||||
Protein_position | 1368 | ||||||||
Exon_number | 14/18 | ||||||||
Codon_change | Cga/Tga | ||||||||
Amino_acid_change | R/* | ||||||||
Isolation | Mutagen | EMS | |||||||
Genetics | Interpolated_map_position | II | 14.2518 | ||||||
Description | Phenotype | WBPhenotype:0000031 | Paper_evidence | WBPaper00032936 | |||||
Person_evidence | WBPerson7217 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Growth delay | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
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 HB101 | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | Complete | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00032936 | |||||||
Person_evidence | WBPerson7217 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Loss_of_function_undetermined_extent | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Probable_null_via_phenotype | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000039 | Person_evidence | WBPerson7217 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Short-lived on OP50, long-lived on HB101 | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | Complete | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Person_evidence | WBPerson7217 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Loss_of_function_undetermined_extent | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000154 | Paper_evidence | WBPaper00032936 | |||||||
Person_evidence | WBPerson7217 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Decreased brood size | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
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 HB101 | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | Complete | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00032936 | |||||||
Person_evidence | WBPerson7217 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Loss_of_function_undetermined_extent | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Probable_null_via_phenotype | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000229 | Paper_evidence | WBPaper00032936 | |||||||
Person_evidence | WBPerson7217 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Small | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Mature mutant adults are smaller compared to age matched controls. Body size was further decreased in response to HB101 | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | Complete | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00032936 | |||||||
Person_evidence | WBPerson7217 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Loss_of_function_undetermined_extent | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Probable_null_via_phenotype | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00032936 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001171 | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | rict-1 mutants display an increased rate of aging and were shortlived on OP50 | Paper_evidence | WBPaper00032936 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00032936 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001184 | Paper_evidence | WBPaper00032936 | |||||||
Person_evidence | WBPerson7217 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Elevated fat mass | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
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% elevated | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | Complete | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00032936 | |||||||
Person_evidence | WBPerson7217 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Loss_of_function_undetermined_extent | Person_evidence | WBPerson7217 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Probable_null_via_phenotype | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00032936 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Treatment | nile red staining | Person_evidence | WBPerson7217 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Staining with BODIPY-labeled fatty acid vital dye and Oil-Red-O. Solid-phase chromatography followed by gas chromatography/mass spectroscopy | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001835 | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Decreased oxygen consumption was seen in rict-1 animals | Paper_evidence | WBPaper00032936 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00032936 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001837 | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | rict-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 HT115 | Paper_evidence | WBPaper00032936 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00032936 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_not_observed | WBPhenotype:0001006 | Paper_evidence | WBPaper00032936 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | No increase in food consumption | Paper_evidence | WBPaper00032936 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00032936 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00032936 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Reference | WBPaper00032936 | ||||||||
Method | Substitution_allele |