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 | Interpolated_map_position | I | 27.9601 | |||||
Mapping_data | In_2_point (14) | |||||||
In_multi_point (20) | ||||||||
In_pos_neg_data | 333 | |||||||
Marked_rearrangement | hT2[unc-54(e190)] | |||||||
Description | Phenotype | WBPhenotype:0000007 | Paper_evidence | WBPaper00000635 | ||||
Curator_confirmed | WBPerson48 | |||||||
Remark | No eggs laid, only larvae. | Paper_evidence | WBPaper00000635 | |||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0000349 | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | limp paralysed phenotype at all stages; larvae can move slightly more than adults; Egl; muscle ultrastructure very disorganized few thick filaments. ES3 ME0 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
limp paralysed phenotype at all stages | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Ease_of_scoring | ES3_Easy_to_score | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000640 | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Egl | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000644 | Paper_evidence | WBPaper00000031 | ||||||
Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson48 | |||||||
WBPerson712 | ||||||||
Remark | limp paralysed phenotype at all stages; larvae can move slightly more than adults | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000782 | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | muscle ultrastructure very disorganized few thick filaments | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000861 | Paper_evidence | WBPaper00000031 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Remark | defect in body muscle cells | Paper_evidence | WBPaper00000031 | |||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0000926 | Paper_evidence | WBPaper00000031 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Remark | defect in body muscle cells | Paper_evidence | WBPaper00000031 | |||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0001068 | Paper_evidence | WBPaper00000635 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Phenotype_assay | Treatment | 5 mg/ml serotonin | Paper_evidence | WBPaper00000635 | ||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0001292 | Paper_evidence | WBPaper00000031 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Remark | defect in body muscle cells | Paper_evidence | WBPaper00000031 | |||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0001339 | Paper_evidence | WBPaper00000635 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Remark | data not shown | Paper_evidence | WBPaper00000635 | |||||
Curator_confirmed | WBPerson48 | |||||||
Affected_by | Molecule | WBMol:00004019 | Paper_evidence | WBPaper00000635 | ||||
Curator_confirmed | WBPerson48 | |||||||
Phenotype_assay | Treatment | 0.1 mg/ml levamisole | Paper_evidence | WBPaper00000635 | ||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0001340 | Paper_evidence | WBPaper00000635 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Phenotype_assay | Treatment | 0.75 mg/ml imipramine | Paper_evidence | WBPaper00000635 | ||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0001341 | Paper_evidence | WBPaper00000635 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Remark | data not shown | Paper_evidence | WBPaper00000635 | |||||
Curator_confirmed | WBPerson48 | |||||||
Phenotype_assay | Treatment | 10 mg/ml phentolamine | Paper_evidence | WBPaper00000635 | ||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0001930 | Paper_evidence | WBPaper00032907 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Animals were isolated based on altered or fewer muscle arms, observed by an altered pattern of trIs25 reporter expression, which expresses membrane-anchored YFP in select muscles of only the distal row of body wall muscles. | Paper_evidence | WBPaper00032907 | |||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_not_observed (3) | ||||||||
Reference (33) | ||||||||
Method | Deletion_allele |