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WormBase Tree Display for Variation: WBVar00143150

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Name Class

WBVar00143150EvidencePaper_evidenceWBPaper00004203
NamePublic_namee364
Other_namee364am
CE20261:p.Trp92Ter
Y47D3B.10.1:c.275G>A
HGVSgCHROMOSOME_III:g.11376127C>T
Sequence_detailsSMapS_parentSequenceY47D3B
Flanking_sequencesataaccccacaaatcttcagatctttgactgaaggagatcgagtcgaaaatgaacgcaaa
Mapping_targetY47D3B
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00004203
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (196)
LaboratoryCB
StatusLive
AffectsGeneWBGene00001077
TranscriptY47D3B.10.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY47D3B.10.1:c.275G>A
HGVSpCE20261:p.Trp92Ter
cDNA_position276
CDS_position275
Protein_position92
Exon_number3/9
Codon_changetGg/tAg
Amino_acid_changeW/*
InteractorWBInteraction000052376
WBInteraction000537326
WBInteraction000576800
GeneticsInterpolated_map_positionIII8.86179
Mapping_dataIn_2_point60
81
84
86
87
88
89
90
220
221
222
223
224
225
226
407
488
489
563
569
580
588
592
594
596
600
601
607
629
670
671
673
707
709
739
3249
3678
4235
6004
6005
6006
6007
6016
6072
6109
6112
In_multi_point (90)
In_pos_neg_data1600
2153
DescriptionPhenotypeWBPhenotype:0000070Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0000199Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
RemarkThe temperature sensitive period for the Ram defect was mid-to late L4 coincident with tail retraction.Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006941PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBbt:0005741PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Life_stageWBls:0000073PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Phenotype_assayTemperature25CPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Genotypehim-5(e1490)Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBPhenotype:0000505Paper_evidenceWBPaper00001328
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkHomozygous Ram. Males are not Ram at 16C.Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Males have abnormal lumpy rays (Ram) at 25C.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006941PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Life_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00001328
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Phenotype_assayTemperature25CPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Genotypehim-5(e1490)Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBPhenotype:0000583Paper_evidenceWBPaper00000031
WBPaper00001328
WBPaper00005747
Person_evidenceWBPerson261
Curator_confirmedWBPerson48
WBPerson712
WBPerson2987
RemarkMedium dumpy. Easy to score (ES3) in adult; difficult to score (ES2) in larvae. ME2. Males have abnormal lumpy rays (Ram) at 25CPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Authors report "medium dpy" (Table 1)Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayTemperature20CPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Genotypehim-5(e1490)Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
kaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000961Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0001412Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkAuthors report "abnormal branched ala" (Table 1)Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0001517Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkAuthors report "abnormal branched annuli (lateral hypodermis)" (Table 1)Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0001678Paper_evidenceWBPaper00003994
Curator_confirmedWBPerson557
RemarkThere was a significant reduction in the hydroxyproline content of cuticle collagen from dpy-18 (e364) animals compared with wild-type cuticle extracts.Paper_evidenceWBPaper00003994
Curator_confirmedWBPerson557
Phenotype_not_observedWBPhenotype:0000648Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
RemarkRay function was not severely disrupted by the morphological defects as most Ram males mated efficientlyPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Phenotype_assayTemperature20CPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Genotypehim-5(e1490)Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBPhenotype:0000695Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Phenotype_assayTemperature20CPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Genotypehim-5(e1490)Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBPhenotype:0000718Paper_evidenceWBPaper00001011
Curator_confirmedWBPerson712
RemarkAnimals have 77%(n=20) mutant seam cell nuclei, similar to XX lin-14 animals (77% n=40).Paper_evidenceWBPaper00001011
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were raised at 24C.Paper_evidenceWBPaper00001011
Curator_confirmedWBPerson712
Temperature24Paper_evidenceWBPaper00001011
Curator_confirmedWBPerson712
Genotypelin-14(n179)Paper_evidenceWBPaper00001011
Curator_confirmedWBPerson712
WBPhenotype:0001426Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Phenotype_assayGenotypearIs37Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
WBPhenotype:0001732Paper_evidenceWBPaper00032033
Curator_confirmedWBPerson712
RemarkAnimals exhibited the same pH survival profile as the wild-type strain over a range of pH 3 to pH 10.Paper_evidenceWBPaper00032033
Curator_confirmedWBPerson712
Phenotype_assayTreatmentMixed or synchronised populations of nematodes were exposed to 500ul M9 buffer (100 mM phosphate, 85 mM NaCl, 1 mM MgSO4 buffered at the appropriate pH by varying KH2PO4 and Na2HPO4 concentrations accordingly) at varying pHs in a 24-well plate format for 4 h (200 nematodes/well). Nematodes were scored as viable by the presence of touch response and pharyngeal pumping.Paper_evidenceWBPaper00032033
Curator_confirmedWBPerson712
Reference (22)
MethodSubstitution_allele