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WormBase Tree Display for Variation: WBVar00241172

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Name Class

WBVar00241172EvidencePaper_evidenceWBPaper00026963
NamePublic_nameq686
Other_nameCE38824:p.Pro289Ser
F44C4.4a.1:c.865C>T
F44C4.4b.1:c.865C>T
CE38823:p.Pro289Ser
HGVSgCHROMOSOME_V:g.6610195G>A
Sequence_detailsSMapS_parentSequenceF44C4
Flanking_sequencesgcgttcaacatgaattcagaatattctcttcaactgttgaaacgatgcattcatttctcg
Mapping_targetF44C4
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00026963
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00022620
LaboratoryJK
StatusLive
AffectsGeneWBGene00002148
TranscriptF44C4.4b.1VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScF44C4.4b.1:c.865C>T
HGVSpCE38824:p.Pro289Ser
cDNA_position865
CDS_position865
Protein_position289
Exon_number3/15
Codon_changeCca/Tca
Amino_acid_changeP/S
F44C4.4a.1VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScF44C4.4a.1:c.865C>T
HGVSpCE38823:p.Pro289Ser
cDNA_position865
CDS_position865
Protein_position289
Exon_number3/15
Codon_changeCca/Tca
Amino_acid_changeP/S
InteractorWBInteraction000538593
GeneticsInterpolated_map_positionV0.11151
DescriptionPhenotypeWBPhenotype:0000031Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Remark"For gon-14, most animals homozygous for the strong loss-of-function allele gon-14(q12) arrested at midlarval development (L2 or L3), but animals homozygous for the temperature-sensitive allele, gon-14(q686), developed to adulthood more slowly than wild type (see materials and methods)."Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
EQ_annotationsGO_termGO:0040007PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
WBPhenotype:0000324Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Remark"In addition, whereas sys-3 mutant adults attained a normal size, gon-14, gon-15, and gon-16 adults were typically about one-half to two-thirds the length of wild-type adults."Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
EQ_annotationsGO_termGO:0040007PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
WBPhenotype:0000893Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
RemarkTable 7Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
PenetranceIncomplete28Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0005784PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Phenotype_assayTemperature25Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
WBPhenotype:0001357Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Remark"In addition to the Glp phenotype, gon-14, gon-15, and gon-16 mutant males often had disorganized gonads with elongation defects..."Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006794PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
GO_termGO:0008406PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
WBPhenotype:0001586Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Remark"Analysis of AC formation gave an unexpected result. Whereas most sys-1 and pop-1 mutants made two or more ACs, as described previously (Miskowski et al. 2001; Siegfried and Kimble 2002), most sys-3, gon-15, gon-16, and many gon-14 mutants had only one AC, although a few had more (Table 6)."Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
PenetranceIncomplete15Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004522PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
GO_termGO:0008406PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Phenotype_assayTemperature25Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
GenotypesyIs50 [cdh-3::GFP]Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
WBPhenotype:0001962Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Remark"As expected, sys-3, gon-14, gon-15, and gon-16 mutants failed to make DTCs (Table 5; Figure 4, B and E), but DTC loss was not fully penetrant and was temperature sensitive (Table 5)."Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
PenetranceHigh97Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006863PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
GO_termGO:0008406PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Phenotype_assayTemperature25Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
GenotypeqIs57 [lag-2::GFP]Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
WBPhenotype:0002136Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Remark"Analysis of AC formation gave an unexpected result. Whereas most sys-1 and pop-1 mutants made two or more ACs, as described previously (Miskowski et al. 2001; Siegfried and Kimble 2002), most sys-3, gon-15, gon-16, and many gon-14 mutants had only one AC, although a few had more (Table 6)."Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
PenetranceIncomplete45Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004522PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
GO_termGO:0008406PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Phenotype_assayTemperature25Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
GenotypesyIs50 [cdh-3::GFP]Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
WBPhenotype:0002188Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Remark"... gon-14(q686) mutant males occasionally produced a vulva (6%, n = 47, 25C."Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
PenetranceLow6Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
GO_termGO:0008406PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
WBPhenotype:0002211Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Remark"The sys-1, sys-3, gon-15, and gon-16 mutants had little effect on phasmid socket cells, but the gon-14(q686) temperature-sensitive mutant raised at restrictive temperature sometimes failed to take up dye into the phasmids (Table 5)."Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
PenetranceIncomplete16Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0005425PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
GO_termGO:0007423PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Phenotype_assayTemperature25Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000070Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Remark"No obvious male tail defects were observed in gon-14(q686) mutants raised at 25C or in sys-3 mutant males raised at 20C."Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0005741PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Phenotype_assayTemperature25Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
WBPhenotype:0001585Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Remark"In contrast to the Wnt/MAPK mutants, which eliminate POP-1 asymmetry, sys-1, sys-3, gon-14, gon-15, and gon-16 mutants did not affect POP-1 asymmetry (Figure 5)."Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
WBPhenotype:0001962Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
RemarkTable 5Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006863PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
GO_termGO:0008406PATO:0000460Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
Phenotype_assayTemperature20Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
GenotypeqIs57 [lag-2::GFP]Paper_evidenceWBPaper00006440
Curator_confirmedWBPerson2987
ReferenceWBPaper00006440
WBPaper00026963
MethodSubstitution_allele