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WormBase Tree Display for Variation: WBVar00088400

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Name Class

WBVar00088400EvidencePaper_evidenceWBPaper00002892
NamePublic_nameky51
Other_nameCE07832:p.Pro70Ser
C02C6.1a.1:c.208C>T
CE07833:p.Pro70Ser
C02C6.1b.1:c.208C>T
HGVSgCHROMOSOME_X:g.15569193C>T
Sequence_detailsSMapS_parentSequenceC02C6
Flanking_sequencesccacgtggatcaggaatcgtaacacgtcgtcacttattttgcagcttattcaagatcgca
Mapping_targetC02C6
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00005217
LaboratoryCX
StatusLive
AffectsGeneWBGene00001130
WBGene00305252
TranscriptC02C6.1b.1VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScC02C6.1b.1:c.208C>T
HGVSpCE07832:p.Pro70Ser
cDNA_position208
CDS_position208
Protein_position70
Exon_number2/8
Codon_changeCca/Tca
Amino_acid_changeP/S
C02C6.1a.1VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScC02C6.1a.1:c.208C>T
HGVSpCE07833:p.Pro70Ser
cDNA_position208
CDS_position208
Protein_position70
Exon_number2/10
Codon_changeCca/Tca
Amino_acid_changeP/S
C02C6.16
Interactor (12)
GeneticsInterpolated_map_positionX22.8498
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
RemarkAnimals retained their eggs at 25C.Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
WBPhenotype:0000019Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
RemarkAnimals exhibited a reduced pharyngeal pumping rate (160 pumps per minute, n = 20, SD = 52, compared with 259 for wild-type animals, n = 20, SD = 13).Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
WBPhenotype:0000031Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
Remark97% eggs laid at 15C and transferred to 25C took twice as long to reach adulthood compared to animals maintained at 15C.Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
WBPhenotype:0000050Paper_evidenceWBPaper00003831
WBPaper00002892
Curator_confirmedWBPerson712
RemarkAnimals produced a reduced number of embryos (average = 56; n=9) at 25C, 52% of which were inviable.Paper_evidenceWBPaper00003831
Curator_confirmedWBPerson712
Eggs laid by hermaphrodites that were maintained at 25C did not recover when they were transferred to 15C.Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00003831
WBPaper00002892
Curator_confirmedWBPerson712
WBPhenotype:0000154Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
RemarkAnimals exhibited a greatly diminished brood size at 25C with an average of 25 progeny (n = 20, SD = 8), compared with 161 for wild-type animals (strain N2; n = 20, SD = 24).Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
WBPhenotype:0000208Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
RemarkAnimals exhibited a prolonged defecation cycle (62 s per cycle, n=10, SD=14, compared with 44 for wild-type animals, n=10, SD=4).Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
WBPhenotype:0000241Paper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
RemarkA thermosensitive mutation, dyn-1(ky51), caused accumulation of refractile corpses that were negative for acridine orange in the adult hermaphrodite gonadPaper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitivePaper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
WBPhenotype:0000565Paper_evidenceWBPaper00044758
Curator_confirmedWBPerson5063
Remarktemperature sensitive phenotype rescued by FUdRPaper_evidenceWBPaper00044758
Curator_confirmedWBPerson5063
Temperature_sensitiveHeat_sensitive28Paper_evidenceWBPaper00044758
Curator_confirmedWBPerson5063
WBPhenotype:0000641Paper_evidenceWBPaper00030848
Curator_confirmedWBPerson712
RemarkAnimals disperse less than WT.Paper_evidenceWBPaper00030848
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were scored for distance traveled (mm) in 3 min.Paper_evidenceWBPaper00030848
Curator_confirmedWBPerson712
Temperature20CPaper_evidenceWBPaper00030848
Curator_confirmedWBPerson712
WBPhenotype:0000643Paper_evidenceWBPaper00030848
WBPaper00002892
Curator_confirmedWBPerson712
RemarkReversible Unc.Paper_evidenceWBPaper00030848
Curator_confirmedWBPerson712
Animals were wild-type or nearly wild-type when maintained at 15C, but became 100% uncoordinated (becoming sluggish and assuming a kinked posture) when shifted to 25C, within a minute. When shifted back to 15C, animals recover normal locomotion within minutes. Larvae were more rapidly and severely affected by the shift in temperature. Further decreases in the rate of movement were noted at 30C.Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
PenetranceCompletePaper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00030848
WBPaper00002892
Curator_confirmedWBPerson712
Phenotype_assayTemperature25CPaper_evidenceWBPaper00030848
Curator_confirmedWBPerson712
WBPhenotype:0001384Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
RemarkAnimals exhibited low fertility at 25C.Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00002892
Curator_confirmedWBPerson712
WBPhenotype:0001426Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
RemarkAnimals had increased GFP in the pseudocoelom and greatly reduced uptake of GFP by coelomocytes.Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Phenotype_assayTemperature20, 25Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Genotypedpy-20(e1282); arIs37[pmyo-3::ssGFP]Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
WBPhenotype:0001588Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
Remark"Additionally, post-axotomy analyses revealed a greater proportion of microtubule growth in the retrograde direction in dyn-1 mutant animals compared to the wild-type (Figure 1 F)," <as viewed by pattern of EBP-2::GFP expression>Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005490PATO:0000460Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were incubated for at least 2 hours at 25C before confocal imaging (top panels).Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
Temperature25Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
WBPhenotype:0001762Paper_evidenceWBPaper00003831
Curator_confirmedWBPerson712
RemarkYP170::GFP protein, a full length yolk protein fusion, was only weakly accumulated in full-grown oocytes and embryos, instead it accumulated to a high level in the pseodocoelom.Paper_evidenceWBPaper00003831
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00003831
Curator_confirmedWBPerson712
Phenotype_assayGenotypeYP170::GFPPaper_evidenceWBPaper00003831
Curator_confirmedWBPerson712
WBPhenotype:0001808Paper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
RemarkCorpses in dyn-1(ky51) mutant worms were arrested in abnormally large phagosomes. No defects in the recognition of corpses, formation of phagocytic cups or actin halos around corpses or in corpse internalizationPaper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitivePaper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
WBPhenotype:0001846Paper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
RemarkIn dyn-1(ky51) worms at the non-permissive temperature, phagosomal RAB-5 and RAB-7 staining was decreased, suggesting arrest at a stage before RAB-5 recruitment. Phagosomal recruitment of YFP::2FYVE was reduced in ky51 mutant worms, confirming that VPS-34 functions downstream of DYN-1Paper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitivePaper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
WBPhenotype:0001989Paper_evidenceWBPaper00046162
Curator_confirmedWBPerson2857
RemarkAnimals become paralyzed at the permissive temperature when exposed to atmospheres containing only 1000 ppm oxygen.Paper_evidenceWBPaper00046162
Curator_confirmedWBPerson2857
WBPhenotype:0002394Paper_evidenceWBPaper00048406
Curator_confirmedWBPerson17560
RemarkFigure 3, unsealed phagosomes can be labeled by PLC&delta;1-PH and the membrane impermeable dye FM4-64. Loss of mtm-1, piki-1, lst-4, dyn-1 or ocrl-1 shows phagosome sealing defective; "The germ cell corpses in lst-4(lf) and dyn-1(lf) mutants were all labeled by FM4-64 and PLC&delta;1-PH, suggesting that phagosomal sealing is defective (Fig 3, J-M; and Fig S3, G-G''', H, and I)."Paper_evidenceWBPaper00048406
Curator_confirmedWBPerson17560
WBPhenotype:0002478Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
Remark"...one hour after axotomy, microtubule dynamics were significantly increased in dyn-1 mutants compared to wild-type animals (Figure 1 D-E)." <as viewed by pattern of EBP-2::GFP expression>Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005490PATO:0000460Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were incubated for at least 2 hours at 25C before confocal imaging (top panels).Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
Temperature25Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000679Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
RemarkPKD-2::GFP dendritic and ciliary localization was not obviously altered in dyn-1(ky51) mutants.Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
WBPhenotype:0000961Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
RemarkPre-axotomy imaging and analysis showed no visible difference <in EBP-2::GFP pattern> between wild-type and dyn-1(ky51) mutant animals before axotomy (Figure 1 A-C).Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005490PATO:0000460Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were incubated for at least 2 hours at 25C before confocal imaging (top panels).Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
Temperature25Paper_evidenceWBPaper00062703
Curator_confirmedWBPerson712
WBPhenotype:0001260Paper_evidenceWBPaper00003831
Curator_confirmedWBPerson712
RemarkOocytes were morphologically wild-type.Paper_evidenceWBPaper00003831
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006797PATO:0000460Paper_evidenceWBPaper00003831
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00003831
Curator_confirmedWBPerson712
Phenotype_assayGenotypeYP170::GFPPaper_evidenceWBPaper00003831
Curator_confirmedWBPerson712
Disease_infoModels_diseaseDOID:0050709
Models_disease_in_annotationWBDOannot00000798
Reference (12)
Remarkmissense, pro70 to ser within GTPase domain. email11 from wen chen
MethodSubstitution_allele