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 (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 | Anatomy_term | WBbt:0006865 | PATO:0000460 | Paper_evidence | WBPaper00005809 | ||||
| Curator_confirmed | WBPerson2987 | ||||||||
| GO_term | GO:0016477 | PATO:0000460 | Paper_evidence | WBPaper00005809 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| 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 |
