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WormBase Tree Display for Variation: WBVar00089402

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Name Class

WBVar00089402EvidencePaper_evidenceWBPaper00001306
NamePublic_namen302
Other_nameCE00274:p.Gly747Asp
R107.8.1:c.2240G>A
HGVSgCHROMOSOME_III:g.9063149C>T
Sequence_detailsSMapS_parentSequenceR107
Flanking_sequencesgtaatacaaatggatgtggttttgatggtgtgattgtgataatgaaacgaatgccacaat
Mapping_targetR107
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00001306
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00022819
WBStrain00022820
WBStrain00022821
WBStrain00022823
WBStrain00022824
WBStrain00026716
WBStrain00026831
WBStrain00026834
WBStrain00027022
WBStrain00027023
LaboratoryMT
StatusLive
Linked_toWBVar00089403
AffectsGeneWBGene00003001
TranscriptR107.8.1VEP_consequencemissense_variant
VEP_impactMODERATE
SIFT0deleterious
PolyPhen1probably_damaging
HGVScR107.8.1:c.2240G>A
HGVSpCE00274:p.Gly747Asp
cDNA_position2324
CDS_position2240
Protein_position747
Exon_number9/12
Codon_changegGt/gAt
Amino_acid_changeG/D
InteractorWBInteraction000006136
WBInteraction000006137
WBInteraction000006138
WBInteraction000006139
WBInteraction000006140
WBInteraction000006141
WBInteraction000006142
WBInteraction000006143
WBInteraction000006144
WBInteraction000006145
WBInteraction000006146
WBInteraction000006147
WBInteraction000006148
WBInteraction000006149
WBInteraction000006150
WBInteraction000009204
WBInteraction000009205
WBInteraction000009206
WBInteraction000052125
WBInteraction000052126
WBInteraction000052127
WBInteraction000052175
WBInteraction000052183
WBInteraction000052309
WBInteraction000502789
WBInteraction000518387
WBInteraction000518396
WBInteraction000556186
IsolationMutagenEMS
GeneticsInterpolated_map_positionIII0.133229
Mapping_dataIn_multi_point887
1086
2305
2306
2307
2308
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00000646
Curator_confirmedWBPerson625
Remark(Table 1)Paper_evidenceWBPaper00000646
Curator_confirmedWBPerson625
WBPhenotype:0000170Paper_evidenceWBPaper00031590
Curator_confirmedWBPerson712
RemarkAdult lateral alae were present in 29% L4 (n=31) and 100% adult (n=10) animals.Paper_evidenceWBPaper00031590
Curator_confirmedWBPerson712
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00031590
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0007832PATO:0000460Paper_evidenceWBPaper00031590
Curator_confirmedWBPerson712
Life_stageWBls:0000038PATO:0000460Paper_evidenceWBPaper00031590
Curator_confirmedWBPerson712
Phenotype_assayTemperature15CPaper_evidenceWBPaper00031590
Curator_confirmedWBPerson712
WBPhenotype:0000640Paper_evidenceWBPaper00031590
Curator_confirmedWBPerson712
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00031590
Curator_confirmedWBPerson712
Phenotype_assayTemperature15CPaper_evidenceWBPaper00031590
Curator_confirmedWBPerson712
WBPhenotype:0000698Paper_evidenceWBPaper00028987
WBPaper00000762
Person_evidenceWBPerson261
Curator_confirmedWBPerson2021
WBPerson712
Remarksemidominant Vul phenotypePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
PenetranceIncomplete66 percent penetrance under heterozygous conditions, 99 percent penetrance under homozygous conditionsPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Semi_dominantPaper_evidenceWBPaper00000762
Person_evidenceWBPerson261
Curator_confirmedWBPerson2021
WBPerson712
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00028987
Curator_confirmedWBPerson2021
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00028987
WBPaper00000762
Person_evidenceWBPerson261
Curator_confirmedWBPerson2021
WBPerson712
WBPhenotype:0000700Paper_evidenceWBPaper00028987
WBPaper00001576
WBPaper00024442
Curator_confirmedWBPerson2021
WBPerson712
RemarkMuv has weak expressivity; however becomes more dramatic when mutant is combined with lin-12(n302).Paper_evidenceWBPaper00001576
Curator_confirmedWBPerson712
weakPaper_evidenceWBPaper00024442
Curator_confirmedWBPerson712
PenetranceLowPaper_evidenceWBPaper00028987
WBPaper00001576
Curator_confirmedWBPerson2021
WBPerson712
Range22Paper_evidenceWBPaper00028987
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00001576
Curator_confirmedWBPerson712
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00024442
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00028987
Curator_confirmedWBPerson2021
Phenotype_assayGenotypehim-5(e1490)Paper_evidenceWBPaper00001576
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000127Paper_evidenceWBPaper00031997
Curator_confirmedWBPerson712
RemarkAnimals did not recover significantly faster than wild type under the same conditions.Paper_evidenceWBPaper00031997
Curator_confirmedWBPerson712
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00031997
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000032PATO:0000460Paper_evidenceWBPaper00031997
Curator_confirmedWBPerson712
Phenotype_assayTreatmentDauers were induced by pheromone.Paper_evidenceWBPaper00031997
Curator_confirmedWBPerson712
Temperature25Paper_evidenceWBPaper00031997
Curator_confirmedWBPerson712
WBPhenotype:0001660Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
RemarkNo disruption of ASE asymmetry (as seen with lim-6, gcy-7 and gcy-5 reporters)Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
Phenotype_assayGenotypeotIs114, otIs6, otIs3, ntIs1Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
ReferenceWBPaper00006052
WBPaper00017941
WBPaper00031997
WBPaper00016092
WBPaper00024442
WBPaper00000762
WBPaper00031590
WBPaper00023121
WBPaper00014700
WBPaper00015553
WBPaper00001576
WBPaper00015001
WBPaper00016174
WBPaper00016406
WBPaper00016475
WBPaper00013903
WBPaper00028987
WBPaper00010621
WBPaper00023743
WBPaper00000646
WBPaper00026071
WBPaper00010374
WBPaper00019613
WBPaper00061833
WBPaper00058585
MethodSubstitution_allele