WormBase Tree Display for Variation: WBVar00000499
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WBVar00000499 | Evidence | Person_evidence | WBPerson616 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | bn121 | ||||||
Other_name | CE49430:p.Met201IlefsTer2 | |||||||
Y65B4BL.2a.1:c.737_921del | ||||||||
Y65B4BL.2b.1:c.602_786del | ||||||||
CE25536:p.Met246IlefsTer2 | ||||||||
HGVSg | CHROMOSOME_I:g.507464_507648del | |||||||
Sequence_details | SMap | S_parent | Sequence | Y65B4BL | ||||
Flanking_sequences | TTGACAATTTGATTTTGCAGGTCATCAAGA | TATGAGCTTCAGCCAGTTCCACTTCTCAGAC | ||||||
Mapping_target | Y65B4BL | |||||||
Type_of_mutation | Deletion | |||||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00034459 | |||||||
Laboratory | SS | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00022034 | ||||||
Transcript | Y65B4BL.2a.1 | VEP_consequence | frameshift_variant | |||||
VEP_impact | HIGH | |||||||
HGVSc | Y65B4BL.2a.1:c.737_921del | |||||||
HGVSp | CE25536:p.Met246IlefsTer2 | |||||||
cDNA_position | 741-925 | |||||||
CDS_position | 737-921 | |||||||
Protein_position | 246-307 | |||||||
Exon_number | 7/14 | |||||||
Codon_change | aTGCAGCTTGGCCTGTATGTCGGCGAACGCCTACTGATTTGCAAAGAACTCTCGCAGTTCGACTTTATTATCCCACTGCAGAAGCCATTTTCCCGAGGAACGGACAAGACTTTGATCTACCCAGCCGTCGGAGAATACTTTCATTTCAGTGCTATTTGGTCGATGCAGCACAACGGTTTTCTGATC/a | |||||||
Amino_acid_change | MQLGLYVGERLLICKELSQFDFIIPLQKPFSRGTDKTLIYPAVGEYFHFSAIWSMQHNGFLI/X | |||||||
Y65B4BL.2b.1 | VEP_consequence | frameshift_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | Y65B4BL.2b.1:c.602_786del | |||||||
HGVSp | CE49430:p.Met201IlefsTer2 | |||||||
cDNA_position | 602-786 | |||||||
CDS_position | 602-786 | |||||||
Protein_position | 201-262 | |||||||
Exon_number | 5/11 | |||||||
Codon_change | aTGCAGCTTGGCCTGTATGTCGGCGAACGCCTACTGATTTGCAAAGAACTCTCGCAGTTCGACTTTATTATCCCACTGCAGAAGCCATTTTCCCGAGGAACGGACAAGACTTTGATCTACCCAGCCGTCGGAGAATACTTTCATTTCAGTGCTATTTGGTCGATGCAGCACAACGGTTTTCTGATC/a | |||||||
Amino_acid_change | MQLGLYVGERLLICKELSQFDFIIPLQKPFSRGTDKTLIYPAVGEYFHFSAIWSMQHNGFLI/X | |||||||
Interactor | WBInteraction000503464 | |||||||
WBInteraction000503465 | ||||||||
WBInteraction000503466 | ||||||||
WBInteraction000503467 | ||||||||
WBInteraction000503468 | ||||||||
WBInteraction000503469 | ||||||||
WBInteraction000503470 | ||||||||
Isolation | Mutagen | EMS | Person_evidence | WBPerson616 | ||||
Genetics | Interpolated_map_position | I | -18.9835 | |||||
Description | Phenotype | WBPhenotype:0000154 | Person_evidence | WBPerson616 | ||||
Curator_confirmed | WBPerson557 | |||||||
Remark | reduced brood sizes and many dead eggs at 15-20C | Person_evidence | WBPerson616 | |||||
Curator_confirmed | WBPerson557 | |||||||
Phenotype_assay | Temperature | 20 | Person_evidence | WBPerson616 | ||||
Curator_confirmed | WBPerson557 | |||||||
WBPhenotype:0001408 | Person_evidence | WBPerson616 | ||||||
Curator_confirmed | WBPerson557 | |||||||
Remark | mislocalized GFP::PGL-1 | Person_evidence | WBPerson616 | |||||
Curator_confirmed | WBPerson557 | |||||||
Phenotype_assay | Temperature | 25 | Person_evidence | WBPerson616 | ||||
Curator_confirmed | WBPerson557 | |||||||
Genotype | pie-1::gfp::pgl-1 | Person_evidence | WBPerson616 | |||||
Curator_confirmed | WBPerson557 | |||||||
WBPhenotype:0001504 | Person_evidence | WBPerson616 | ||||||
Curator_confirmed | WBPerson557 | |||||||
Remark | approximately 92% sterile at 24.5 C | Person_evidence | WBPerson616 | |||||
Curator_confirmed | WBPerson557 | |||||||
Penetrance | Incomplete | Person_evidence | WBPerson616 | |||||
Curator_confirmed | WBPerson557 | |||||||
Recessive | Person_evidence | WBPerson616 | ||||||
Curator_confirmed | WBPerson557 | |||||||
Temperature_sensitive | Heat_sensitive | 25 | Person_evidence | WBPerson616 | ||||
Curator_confirmed | WBPerson557 | |||||||
Maternal | ||||||||
Phenotype_assay | Temperature | 25 | Person_evidence | WBPerson616 | ||||
Curator_confirmed | WBPerson557 | |||||||
WBPhenotype:0001776 | Paper_evidence | WBPaper00035324 | ||||||
Curator_confirmed | WBPerson2021 | |||||||
Remark | The expression of a 26G RNA (26G-S4) is dramatically reduced when its target deps-1 is mutated | Paper_evidence | WBPaper00035324 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Reference | WBPaper00035324 | |||||||
Method | Deletion_allele |