WormBase Tree Display for Variation: WBVar00143024
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WBVar00143024 | Evidence | Paper_evidence | WBPaper00000779 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | e190 | ||||||
Other_name | F11C3.3.1:c.4617_5017del | |||||||
CE09349:p.Ile1539MetfsTer6 | ||||||||
HGVSg | CHROMOSOME_I:g.14857211_14857611del | |||||||
Sequence_details | SMap | S_parent | Sequence | F32A7 | ||||
Flanking_sequences | acgctctgtccacgaaatgcaaaagatcat | gagccgacacccgtgaacaattcttcaacg | ||||||
Mapping_target | F32A7 | |||||||
Type_of_mutation | Deletion | |||||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain (13) | ||||||||
Laboratory | CB | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00006789 | ||||||
Transcript | F11C3.3.1 | VEP_consequence | frameshift_variant | |||||
VEP_impact | HIGH | |||||||
HGVSc | F11C3.3.1:c.4617_5017del | |||||||
HGVSp | CE09349:p.Ile1539MetfsTer6 | |||||||
cDNA_position | 4649-5049 | |||||||
CDS_position | 4617-5017 | |||||||
Protein_position | 1539-1673 | |||||||
Exon_number | 7/11 | |||||||
Codon_change | atCCGCCGTCTTGAGATTGAGAAGGAAGAACTCCAACACGCTTTGGACGAGGCTGAGGCTGCCCTTGAAGCTGAAGAGAGCAAGGTTCTCCGCGCCCAGGTTGAAGTTTCCCAGATCCGTTCCGAAATCGAGAAACGCATCCAGGAGAAGGAGGAAGAGTTCGAGAACACGAGAAAGAACCACGCCCGCGCTCTTGAATCAATGCAAGCTTCCCTCGAGACCGAAGCTAAAGGAAAGGCCGAACTTCTCCGCATCAAGAAGAAGCTCGAGGGAGATATCAACGAGCTCGAGATCGCTTTGGACCACGCCAACAAGGCTAACGCCGATGCCCAGAAGAACTTGAAGAGATACCAAGAGCAAGTCCGCGAGTTGCAATTGCAAGTCGAGGAGGAGCAACGCAATGga/atga | |||||||
Amino_acid_change | IRRLEIEKEELQHALDEAEAALEAEESKVLRAQVEVSQIRSEIEKRIQEKEEEFENTRKNHARALESMQASLETEAKGKAELLRIKKKLEGDINELEIALDHANKANADAQKNLKRYQEQVRELQLQVEEEQRNG/MX | |||||||
Interactor | WBInteraction000518611 | |||||||
WBInteraction000538533 | ||||||||
WBInteraction000555983 | ||||||||
Isolation | Mutagen | EMS | Paper_evidence | WBPaper00000779 | ||||
Genetics (3) | ||||||||
Description | Phenotype (13) | |||||||
Phenotype_not_observed | WBPhenotype:0000195 | Paper_evidence | WBPaper00005809 | |||||
Curator_confirmed | WBPerson2987 | |||||||
Remark | "Mutations in unc-22 or unc-54 that disrupt the function and structure of body wall muscles (Moerman et al., 1986) had no significant effect on the frequency of DTC migration defects (Table 1; P > 0.3)." | Paper_evidence | WBPaper00005809 | |||||
Curator_confirmed | WBPerson2987 | |||||||
EQ_annotations (2) | ||||||||
Phenotype_assay | Genotype | unc-5(e152) | Paper_evidence | WBPaper00005809 | ||||
Curator_confirmed | WBPerson2987 | |||||||
WBPhenotype:0001236 | Paper_evidence | WBPaper00056554 | ||||||
Curator_confirmed | WBPerson5649 | |||||||
Remark | expression of mgIs72[rpt-3::gfp] transgene was not increased | Paper_evidence | WBPaper00056554 | |||||
Curator_confirmed | WBPerson5649 | |||||||
Phenotype_assay | Control_strain | WBStrain00007961 | Paper_evidence | WBPaper00056554 | ||||
Curator_confirmed | WBPerson5649 | |||||||
Genotype | mgIs72 [rpt-3::gfp] | Paper_evidence | WBPaper00056554 | |||||
Curator_confirmed | WBPerson5649 | |||||||
WBPhenotype:0001426 | Paper_evidence | WBPaper00004883 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Genotype | arIs37 | Paper_evidence | WBPaper00004883 | ||||
Curator_confirmed | WBPerson712 | |||||||
Reference (33) | ||||||||
Method | Deletion_allele |