WormBase Tree Display for Variation: WBVar00145537
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WBVar00145537 | Evidence | Paper_evidence | WBPaper00006305 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | gk130 | |||||
HGVSg | CHROMOSOME_III:g.4017376_4017828del | ||||||
Sequence_details | SMap | S_parent | Sequence | C36E8 | |||
Flanking_sequences | cgagatcgaccaacacggcgcgtggcacat | ctgaaattaaatgattcacggcgaaaataa | |||||
Mapping_target | C36E8 | ||||||
Type_of_mutation | Deletion | ||||||
PCR_product | GK130_external | ||||||
GK130_internal | |||||||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00035552 | ||||||
Laboratory | VC | ||||||
Person | WBPerson427 | ||||||
KO_consortium_allele | |||||||
Status | Live | ||||||
Affects | Gene | WBGene00006537 | |||||
Transcript | C36E8.5.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant | ||||
VEP_impact | HIGH | ||||||
cDNA_position | ?-180 | ||||||
CDS_position | ?-175 | ||||||
Protein_position | ?-59 | ||||||
Intron_number | 2/5 | ||||||
Exon_number | 1-3/6 | ||||||
Description | Phenotype | WBPhenotype:0001224 | Paper_evidence | WBPaper00036056 | |||
Curator_confirmed | WBPerson2021 | ||||||
Remark | Mutants exhibited DD axon outgrowth defects | Paper_evidence | WBPaper00036056 | ||||
Curator_confirmed | WBPerson2021 | ||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00036056 | ||||
Curator_confirmed | WBPerson2021 | ||||||
Phenotype_not_observed | WBPhenotype:0000643 | Paper_evidence | WBPaper00036056 | ||||
Curator_confirmed | WBPerson2021 | ||||||
Remark | gk130 mutants were not severely uncoordinated | Paper_evidence | WBPaper00036056 | ||||
Curator_confirmed | WBPerson2021 | ||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00036056 | ||||
Curator_confirmed | WBPerson2021 | ||||||
Reference | WBPaper00036056 | ||||||
WBPaper00006305 | |||||||
Remark | Sequenced by the C. elegans Gene Knockout Consortium | Paper_evidence | WBPaper00041807 | ||||
Method | KO_consortium_allele |