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WormBase Tree Display for Variation: WBVar00143969

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Name Class

WBVar00143969EvidencePaper_evidenceWBPaper00035610
NamePublic_namee1393
Other_nameCE06236:p.Ser391Trp
R05D11.1.1:c.1172C>A
CE06236:p.Ser391Ter
R05D11.1.1:c.1172C>G
HGVSgCHROMOSOME_I:g.8585234G>T
Sequence_detailsSMapS_parentSequenceR05D11
Flanking_sequencestatcaaaataacatcattacagccgtttctgcttggttggtacaacaatccaaaccgctc
Mapping_targetR05D11
Type_of_mutationSubstitutioncrPaper_evidenceWBPaper00035610
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (16)
LaboratoryCB
StatusLive
AffectsGeneWBGene00000904
TranscriptR05D11.1.1VEP_consequencemissense_variant
stop_gained
VEP_impactMODERATE
HIGH
HGVScR05D11.1.1:c.1172C>A
R05D11.1.1:c.1172C>G
HGVSpCE06236:p.Ser391Trp
CE06236:p.Ser391Ter
cDNA_position1190
CDS_position1172
Protein_position391
Exon_number6/8
Codon_changetCg/tAg
tCg/tGg
Amino_acid_changeS/*
S/W
Interactor (54)
GeneticsInterpolated_map_positionI2.97492
Mapping_dataIn_2_point28
424
703
2509
3738
In_multi_point (20)
In_pos_neg_data2508
2510
2511
6821
6824
7283
7286
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00035610
Curator_confirmedWBPerson2021
RemarkMutations in daf-8 confer an egg-laying defectPaper_evidenceWBPaper00035610
Curator_confirmedWBPerson2021
WBPhenotype:0000012Paper_evidenceWBPaper00000316
WBPaper00000504
WBPaper00001923
WBPaper00028386
WBPaper00032073
WBPaper00035610
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPerson2021
RemarkRecovered by selection for resistance to 1% SDS.Paper_evidenceWBPaper00000504
Curator_confirmedWBPerson712
Weakly dominant for Dauer constitutive.Paper_evidenceWBPaper00001923
Curator_confirmedWBPerson712
Animals formed 0% dauer at 16C.Paper_evidenceWBPaper00028386
Curator_confirmedWBPerson712
Animals exhibited a moderate Daf-c phenotype at lower temperatures but is 100% Daf-c at 25C.Paper_evidenceWBPaper00032073
Curator_confirmedWBPerson712
The temperature sensitive Daf-c phenotype is most penetrant at 25.5CPaper_evidenceWBPaper00035610
Curator_confirmedWBPerson2021
weak allelePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00000316
WBPaper00000504
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00000316
WBPaper00000504
WBPaper00028386
WBPaper00032073
Curator_confirmedWBPerson712
25.5Paper_evidenceWBPaper00035610
Curator_confirmedWBPerson2021
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Phenotype_assayTemperature16Paper_evidenceWBPaper00028386
Curator_confirmedWBPerson712
25, 20, 15Paper_evidenceWBPaper00032073
Curator_confirmedWBPerson712
Genotypeunc-4(e120)Paper_evidenceWBPaper00028386
Curator_confirmedWBPerson712
WBPhenotype:0000154Paper_evidenceWBPaper00035610
Curator_confirmedWBPerson2021
RemarkMutations in daf-8 confer reduced brood sizePaper_evidenceWBPaper00035610
Curator_confirmedWBPerson2021
WBPhenotype:0000306Paper_evidenceWBPaper00032073
Curator_confirmedWBPerson712
RemarkThe expression of cuIs5 (or cuIs2), a reporter of TGF-beta -signaling activity, is reduced compared to wild type levels.Paper_evidenceWBPaper00032073
Curator_confirmedWBPerson712
Phenotype_assayGenotypecuIs5 or cuIs2Paper_evidenceWBPaper00032073
Curator_confirmedWBPerson712
WBPhenotype:0000545Paper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
WBPhenotype:0001013Paper_evidenceWBPaper00032501
Curator_confirmedWBPerson2021
RemarkMutants had enhanced susceptibility to killing by PA14 than N2Paper_evidenceWBPaper00032501
Curator_confirmedWBPerson2021
WBPhenotype:0001033Paper_evidenceWBPaper00035610
Curator_confirmedWBPerson2021
RemarkThe mitotic zone was significantly extended in daf-8(e1393)Paper_evidenceWBPaper00035610
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentDAPI stainingPaper_evidenceWBPaper00035610
Curator_confirmedWBPerson2021
WBPhenotype:0001690Paper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
RemarkAnimals bind mAb M37 at stages L1-L4 but not as adults, wildtype worms only bind this anti-body at the L1 stage. Animals in dauer stage do not bind mAb 37, similar to wildtype.Paper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
PenetranceHighPentrance ranged from 87-100%.Paper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
Phenotype_assayTemperature16, 25Paper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
WBPhenotype:0004016Paper_evidenceWBPaper00050708
Curator_confirmedWBPerson14035
Phenotype_not_observedWBPhenotype:0001068Paper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
Phenotype_assayTreatment5 mg/ml serotoninPaper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
WBPhenotype:0001340Paper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
Phenotype_assayTreatment0.75 mg/ml imipraminePaper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
WBPhenotype:0002535Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
RemarkFITC uptake is normal.Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
Reference (13)
MethodSubstitution_allele