WormBase Tree Display for Variation: WBVar00092196
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WBVar00092196 | Name | Public_name | ok925 | |||||
---|---|---|---|---|---|---|---|---|
Other_name | K08E3.4.1:c.904_*70del | |||||||
HGVSg | CHROMOSOME_III:g.13759551_13760696del | |||||||
Sequence_details | SMap | S_parent | Sequence | K08E3 | ||||
Flanking_sequences | gtgggagaatgggaggcaccgcggattgtt | tgttggcttgtacaccgatgtgaccttatc | ||||||
Mapping_target | K08E3 | |||||||
Type_of_mutation | Deletion | |||||||
PCR_product | ok925_external | |||||||
ok925_internal | ||||||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00031713 | |||||||
Laboratory | RB | |||||||
Person | WBPerson46 | |||||||
KO_consortium_allele | ||||||||
Status | Live | |||||||
Affects | Gene | WBGene00010664 | ||||||
Transcript | K08E3.4.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,stop_lost,3_prime_UTR_variant,intron_variant | |||||
VEP_impact | HIGH | |||||||
HGVSc | K08E3.4.1:c.904_*70del | |||||||
cDNA_position | 904-2002 | |||||||
CDS_position | 904-? | |||||||
Protein_position | 302-? | |||||||
Intron_number | 5/6 | |||||||
Exon_number | 5-7/7 | |||||||
Isolation | Mutagen | UV/TMP | ||||||
Description | Phenotype | WBPhenotype:0000153 | Paper_evidence | WBPaper00046990 | ||||
Curator_confirmed | WBPerson557 | |||||||
Remark | In dbn-1 (ok925) mutant animals there is a mild disorganization/depolymerization of actin filaments (F-actin) during body wall muscle contraction. | Paper_evidence | WBPaper00046990 | |||||
Curator_confirmed | WBPerson557 | |||||||
GFP-UNC-60B was abnormally accumulated along I-bands in the contracted state of body wall muscles in the dbn-1 (ok925) mutant compared with the regular pattern in wild-type worms | Paper_evidence | WBPaper00046990 | ||||||
Curator_confirmed | WBPerson557 | |||||||
Phenotype_assay | Genotype | GFP-ACT-2 | Paper_evidence | WBPaper00046990 | ||||
Curator_confirmed | WBPerson557 | |||||||
GFP-UNC-60B | Paper_evidence | WBPaper00046990 | ||||||
Curator_confirmed | WBPerson557 | |||||||
WBPhenotype:0000611 | Paper_evidence | WBPaper00046990 | ||||||
Curator_confirmed | WBPerson557 | |||||||
Remark | In dbn-1 (ok925) mutants, a significant amount of GFP-LEV-11 appeared at I-bands in relaxed body wall muscles. | Paper_evidence | WBPaper00046990 | |||||
Curator_confirmed | WBPerson557 | |||||||
In dbn-1 (ok925) mutants, irregular patterns of alpha-actinin accumulations were observed in the relaxed state which became even more dramatic during contraction in body wall muscles. | Paper_evidence | WBPaper00046990 | ||||||
Curator_confirmed | WBPerson557 | |||||||
Phenotype_assay | Genotype | GFP-LEV-11 | Paper_evidence | WBPaper00046990 | ||||
Curator_confirmed | WBPerson557 | |||||||
GFP-ATN-1 | Paper_evidence | WBPaper00046990 | ||||||
Curator_confirmed | WBPerson557 | |||||||
Reference | WBPaper00046990 | |||||||
Remark | Sequenced by the C. elegans Gene Knockout Consortium | Paper_evidence | WBPaper00041807 | |||||
Method | KO_consortium_allele |