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WormBase Tree Display for Variation: WBVar00143952

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Name Class

WBVar00143952EvidencePaper_evidenceWBPaper00003347
NamePublic_namee1375
Other_nameCE26385:p.Met564CysfsTer7
T07A9.6.1:c.1690_1691delinsTGCGTTGACTCAATGCGTTGACTCGTTGAC
HGVSgCHROMOSOME_IV:g.422294_422295delinsGTCAACGAGTCAACGCATTGAGTCAACGCA
Sequence_detailsSMapS_parentSequenceT07A9
Flanking_sequencestcgacacggaggcttcaagcgttgactcaagaatccaaaatggcgacctgaaccgtgtgc
Mapping_targetT07A9
Type_of_mutationInsertiontgcgttgactcaatgcgttgactcgttgac
Deletionat
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004234
WBStrain00004311
WBStrain00030724
WBStrain00030758
LaboratoryCB
StatusLive
AffectsGeneWBGene00000913
TranscriptT07A9.6.1VEP_consequencestop_gained,frameshift_variant
VEP_impactHIGH
HGVScT07A9.6.1:c.1690_1691delinsTGCGTTGACTCAATGCGTTGACTCGTTGAC
HGVSpCE26385:p.Met564CysfsTer7
cDNA_position1719-1720
CDS_position1690-1691
Protein_position564
Exon_number5/9
Codon_changeATg/TGCGTTGACTCAATGCGTTGACTCGTTGACg
Amino_acid_changeM/CVDSMR*LVDX
Interactor (13)
GeneticsInterpolated_map_positionIV-26.0122
Mapping_dataIn_2_point443
5713
In_multi_point337
DescriptionPhenotypeWBPhenotype:0000013Paper_evidenceWBPaper00000316
WBPaper00000504
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkDefective dauer formation; forms some dauer-like larvae when starved.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES1_Very_hard_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000038Paper_evidenceWBPaper00003347
Curator_confirmedWBPerson712
RemarkEight percent of daf-18(e1375) animals die as adults with a burst vulva compared to 0% of wild-type.Paper_evidenceWBPaper00003347
Curator_confirmedWBPerson712
MaternalWith_maternal_effectPaper_evidenceWBPaper00003347
Curator_confirmedWBPerson712
WBPhenotype:0000060Paper_evidenceWBPaper00003347
Curator_confirmedWBPerson712
RemarkEight percent of daf-18(e1375) animals die as adults with a burst vulva compared to 0% of wild-type.Paper_evidenceWBPaper00003347
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0007833PATO:0001422Paper_evidenceWBPaper00003347
Curator_confirmedWBPerson712
Life_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00003347
Curator_confirmedWBPerson712
MaternalWith_maternal_effectPaper_evidenceWBPaper00003347
Curator_confirmedWBPerson712
WBPhenotype:0000425Paper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
RemarkBlocks increase in di-phosphorylated MPK-1 in clr-1(e1745) mutantPaper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
Phenotype_assayGenotypeclr-1(e1745)Paper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
WBPhenotype:0001171Paper_evidenceWBPaper00002149
WBPaper00032237
Curator_confirmedWBPerson712
RemarkThe average lifespan was decreased compared to control rrf-3(pk1426) animals.Paper_evidenceWBPaper00032237
Curator_confirmedWBPerson712
Phenotype_assayTemperature25.5CPaper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
20Paper_evidenceWBPaper00032237
Curator_confirmedWBPerson712
Genotyperrf-3(pk1426)Paper_evidenceWBPaper00032237
Curator_confirmedWBPerson712
WBPhenotype:0001645Paper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
RemarkBlocks protein degradation in response to treatment with the AGE-1 inhibitor LY-294002Paper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
Blocks muscle protein degradation in clr-1(e1745) mutantsPaper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
Affected_byMoleculeWBMol:00005384Paper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
Phenotype_assayGenotypeclr-1(e1745)Paper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
WBPhenotype:0001775Paper_evidenceWBPaper00031942
Curator_confirmedWBPerson712
RemarkUnlike wild-type, growth under thermocycling conditions of 10 minute shifts between 12C and 25C, resulted in a shift in life span similar to the life span of animals reared at 18.5C continuously, not towards animals reared at 12C. That is, life span extension afforded by thermocycling animals was eliminated.Paper_evidenceWBPaper00031942
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were grown in microfuge tubes in 100l S medium (maintained) and incubated in thermocyclers. Worms were transferred into autoclaved, sterile microfuge tubes either every other day or once every 3 days, dependent upon the strain and stage of life of the worms used. Worms were monitored, counted and fed on a daily basis. Animals were shifted every 10 minutes between 12C and 25C.Paper_evidenceWBPaper00031942
Curator_confirmedWBPerson712
Temperature12, 12.5, 18.5, 25Paper_evidenceWBPaper00031942
Curator_confirmedWBPerson712
WBPhenotype:0001999Paper_evidenceWBPaper00037970
Curator_confirmedWBPerson2987
RemarkThe integration of signals for attraction to diacetyl (100x dilute) and avoidance from copper (100 millimolar) was impaired in daf-18(e1375) insulin-like signaling pathway mutants, resulting in fewer animals crossing the copper barrier to get to the diacetyl spot than in wild type controls (Figure 1C)Paper_evidenceWBPaper00037970
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00002862Paper_evidenceWBPaper00037970
Curator_confirmedWBPerson2987
WBMol:00002819Paper_evidenceWBPaper00037970
Curator_confirmedWBPerson2987
WBPhenotype:0002256Paper_evidenceWBPaper00044686
Curator_confirmedWBPerson1754
RemarkIncreased sensitivity to movement decline in response to selenium exposure.Paper_evidenceWBPaper00044686
Curator_confirmedWBPerson1754
Affected_byMoleculeWBMol:00001915Paper_evidenceWBPaper00044686
Curator_confirmedWBPerson1754
Phenotype_not_observedWBPhenotype:0000013Paper_evidenceWBPaper00058674
Curator_confirmedWBPerson712
ImageWBPicture0000014933Paper_evidenceWBPaper00058674
Curator_confirmedWBPerson712
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
Genotypedaf-18(e1375)Paper_evidenceWBPaper00028759
Curator_confirmedWBPerson557
WBPhenotype:0001182Paper_evidenceWBPaper00003347
Curator_confirmedWBPerson712
Remarkdaf-18(e1375) mutant animals in an age-1(+) background accumulate wild-type amounts of fat.Paper_evidenceWBPaper00003347
Curator_confirmedWBPerson712
MaternalWith_maternal_effectPaper_evidenceWBPaper00003347
Curator_confirmedWBPerson712
WBPhenotype:0001653Paper_evidenceWBPaper00026674
Curator_confirmedWBPerson2987
RemarkTable 3Paper_evidenceWBPaper00026674
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00003022Paper_evidenceWBPaper00026674
Curator_confirmedWBPerson2987
WBPhenotype:0002535Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
RemarkFITC uptake is normal.Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
Disease_infoModels_diseaseDOID:162
Models_disease_in_annotationWBDOannot00000548
WBDOannot00000563
Reference (24)
Remark[190925 pad] Modified the RH flank to remove the deleted sequence "at" as this was causing an off by one error on the Mol details display and a context issue.Curator_confirmedWBPerson1983
MethodDeletion_and_insertion_allele