WormBase Tree Display for Variation: WBVar00092702
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| WBVar00092702 | Name | Public_name | ok1491 | ||||
|---|---|---|---|---|---|---|---|
| Other_name | R10E11.1a.1:c.3202_3910del | ||||||
| R10E11.1b.1:c.3235_3943del | |||||||
| CE46909:p.Trp1068SerfsTer8 | |||||||
| R10E11.1a.2:c.3202_3910del | |||||||
| R10E11.1c.1:c.3202_3910del | |||||||
| CE46860:p.Trp1079SerfsTer8 | |||||||
| CE47039:p.Trp1068SerfsTer8 | |||||||
| HGVSg | CHROMOSOME_III:g.9770616_9771324del | ||||||
| Sequence_details | SMap | S_parent | Sequence | R10E11 | |||
| Flanking_sequences | ttcgagagatgtaaatattgtatgaggaaa | agcaagcaagagatgataatctgacaactc | |||||
| Mapping_target | R10E11 | ||||||
| Type_of_mutation | Deletion | ||||||
| PCR_product | ok1491_external | ||||||
| ok1491_internal | |||||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00036243 | ||||||
| Laboratory | RB | ||||||
| Person | WBPerson46 | ||||||
| KO_consortium_allele | |||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00000366 | |||||
| Transcript | R10E11.1c.1 | VEP_consequence | frameshift_variant | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | R10E11.1c.1:c.3202_3910del | ||||||
| HGVSp | CE46909:p.Trp1068SerfsTer8 | ||||||
| cDNA_position | 3384-4092 | ||||||
| CDS_position | 3202-3910 | ||||||
| Protein_position | 1068-1304 | ||||||
| Exon_number | 9/14 | ||||||
| Codon_change | TGGCATCGGATATGTGCACTTCATGATAAGAAAGTTTATCCAGAAGGATTTATATGCGAATGTTGCCGGACTGCTAAGAAATATCAAAAGCCAGATAACAAGTATCTTGCTAGCAAATTGCCACATAATAAGCTGTCTACATTCCTCGAAGATCGTGTCAACGGTTTCATAAAGAAGCAGTTACAAGCAGAAGCTCACAAGTATCCAGTCATCATTCGAACACTATGTGTACAGGATAAAGAAGCAGAAGTCAAAGCGCAGATGAAACAGAAGTACGTGGAGAGCAATCAATTCCCTGAAAAGTTCCCCTATCGCACAAAGGCAGTTTTTGCCTTCGAGATCATTGATGGAGTCGAAGTGTGTTTCTTTGGTCTTCACGTACAGGAGTACGGTAGTGCATGTCCTGCTCCAAATGCTCGACGTGTCTACATTGCCTATCTCGATTCTGTTCACTTCTTCCAGCCAAGGGAGCTGAGAACCGATGTGTATCACGAACTTCTTTTGGGTTATTTGGATTACGCGAAGATGCTGGGCTACACAATGGCTCATATTTGGGCGTGTCCACCATCAGAAGGAGATGACTACATCTTCCACTGCCATCCACCAGAGCAAAAGATTCCAAAGCCGAAGCGTCTCCAGGATTGGTACAAAAAGATGTTGGAGAAGGGAGTGCAGGAGGGAAGTGTCGTTGAATTTAAGGATATATACAag/ag | ||||||
| Amino_acid_change | WHRICALHDKKVYPEGFICECCRTAKKYQKPDNKYLASKLPHNKLSTFLEDRVNGFIKKQLQAEAHKYPVIIRTLCVQDKEAEVKAQMKQKYVESNQFPEKFPYRTKAVFAFEIIDGVEVCFFGLHVQEYGSACPAPNARRVYIAYLDSVHFFQPRELRTDVYHELLLGYLDYAKMLGYTMAHIWACPPSEGDDYIFHCHPPEQKIPKPKRLQDWYKKMLEKGVQEGSVVEFKDIYK/X | ||||||
| R10E11.1b.1 | VEP_consequence | frameshift_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | R10E11.1b.1:c.3235_3943del | ||||||
| HGVSp | CE46860:p.Trp1079SerfsTer8 | ||||||
| cDNA_position | 3423-4131 | ||||||
| CDS_position | 3235-3943 | ||||||
| Protein_position | 1079-1315 | ||||||
| Exon_number | 9/14 | ||||||
| Codon_change | TGGCATCGGATATGTGCACTTCATGATAAGAAAGTTTATCCAGAAGGATTTATATGCGAATGTTGCCGGACTGCTAAGAAATATCAAAAGCCAGATAACAAGTATCTTGCTAGCAAATTGCCACATAATAAGCTGTCTACATTCCTCGAAGATCGTGTCAACGGTTTCATAAAGAAGCAGTTACAAGCAGAAGCTCACAAGTATCCAGTCATCATTCGAACACTATGTGTACAGGATAAAGAAGCAGAAGTCAAAGCGCAGATGAAACAGAAGTACGTGGAGAGCAATCAATTCCCTGAAAAGTTCCCCTATCGCACAAAGGCAGTTTTTGCCTTCGAGATCATTGATGGAGTCGAAGTGTGTTTCTTTGGTCTTCACGTACAGGAGTACGGTAGTGCATGTCCTGCTCCAAATGCTCGACGTGTCTACATTGCCTATCTCGATTCTGTTCACTTCTTCCAGCCAAGGGAGCTGAGAACCGATGTGTATCACGAACTTCTTTTGGGTTATTTGGATTACGCGAAGATGCTGGGCTACACAATGGCTCATATTTGGGCGTGTCCACCATCAGAAGGAGATGACTACATCTTCCACTGCCATCCACCAGAGCAAAAGATTCCAAAGCCGAAGCGTCTCCAGGATTGGTACAAAAAGATGTTGGAGAAGGGAGTGCAGGAGGGAAGTGTCGTTGAATTTAAGGATATATACAag/ag | ||||||
| Amino_acid_change | WHRICALHDKKVYPEGFICECCRTAKKYQKPDNKYLASKLPHNKLSTFLEDRVNGFIKKQLQAEAHKYPVIIRTLCVQDKEAEVKAQMKQKYVESNQFPEKFPYRTKAVFAFEIIDGVEVCFFGLHVQEYGSACPAPNARRVYIAYLDSVHFFQPRELRTDVYHELLLGYLDYAKMLGYTMAHIWACPPSEGDDYIFHCHPPEQKIPKPKRLQDWYKKMLEKGVQEGSVVEFKDIYK/X | ||||||
| R10E11.1a.2 | VEP_consequence | frameshift_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | R10E11.1a.2:c.3202_3910del | ||||||
| HGVSp | CE47039:p.Trp1068SerfsTer8 | ||||||
| cDNA_position | 3391-4099 | ||||||
| CDS_position | 3202-3910 | ||||||
| Protein_position | 1068-1304 | ||||||
| Exon_number | 9/15 | ||||||
| Codon_change | TGGCATCGGATATGTGCACTTCATGATAAGAAAGTTTATCCAGAAGGATTTATATGCGAATGTTGCCGGACTGCTAAGAAATATCAAAAGCCAGATAACAAGTATCTTGCTAGCAAATTGCCACATAATAAGCTGTCTACATTCCTCGAAGATCGTGTCAACGGTTTCATAAAGAAGCAGTTACAAGCAGAAGCTCACAAGTATCCAGTCATCATTCGAACACTATGTGTACAGGATAAAGAAGCAGAAGTCAAAGCGCAGATGAAACAGAAGTACGTGGAGAGCAATCAATTCCCTGAAAAGTTCCCCTATCGCACAAAGGCAGTTTTTGCCTTCGAGATCATTGATGGAGTCGAAGTGTGTTTCTTTGGTCTTCACGTACAGGAGTACGGTAGTGCATGTCCTGCTCCAAATGCTCGACGTGTCTACATTGCCTATCTCGATTCTGTTCACTTCTTCCAGCCAAGGGAGCTGAGAACCGATGTGTATCACGAACTTCTTTTGGGTTATTTGGATTACGCGAAGATGCTGGGCTACACAATGGCTCATATTTGGGCGTGTCCACCATCAGAAGGAGATGACTACATCTTCCACTGCCATCCACCAGAGCAAAAGATTCCAAAGCCGAAGCGTCTCCAGGATTGGTACAAAAAGATGTTGGAGAAGGGAGTGCAGGAGGGAAGTGTCGTTGAATTTAAGGATATATACAag/ag | ||||||
| Amino_acid_change | WHRICALHDKKVYPEGFICECCRTAKKYQKPDNKYLASKLPHNKLSTFLEDRVNGFIKKQLQAEAHKYPVIIRTLCVQDKEAEVKAQMKQKYVESNQFPEKFPYRTKAVFAFEIIDGVEVCFFGLHVQEYGSACPAPNARRVYIAYLDSVHFFQPRELRTDVYHELLLGYLDYAKMLGYTMAHIWACPPSEGDDYIFHCHPPEQKIPKPKRLQDWYKKMLEKGVQEGSVVEFKDIYK/X | ||||||
| R10E11.1a.1 | VEP_consequence | frameshift_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | R10E11.1a.1:c.3202_3910del | ||||||
| HGVSp | CE47039:p.Trp1068SerfsTer8 | ||||||
| cDNA_position | 3384-4092 | ||||||
| CDS_position | 3202-3910 | ||||||
| Protein_position | 1068-1304 | ||||||
| Exon_number | 9/14 | ||||||
| Codon_change | TGGCATCGGATATGTGCACTTCATGATAAGAAAGTTTATCCAGAAGGATTTATATGCGAATGTTGCCGGACTGCTAAGAAATATCAAAAGCCAGATAACAAGTATCTTGCTAGCAAATTGCCACATAATAAGCTGTCTACATTCCTCGAAGATCGTGTCAACGGTTTCATAAAGAAGCAGTTACAAGCAGAAGCTCACAAGTATCCAGTCATCATTCGAACACTATGTGTACAGGATAAAGAAGCAGAAGTCAAAGCGCAGATGAAACAGAAGTACGTGGAGAGCAATCAATTCCCTGAAAAGTTCCCCTATCGCACAAAGGCAGTTTTTGCCTTCGAGATCATTGATGGAGTCGAAGTGTGTTTCTTTGGTCTTCACGTACAGGAGTACGGTAGTGCATGTCCTGCTCCAAATGCTCGACGTGTCTACATTGCCTATCTCGATTCTGTTCACTTCTTCCAGCCAAGGGAGCTGAGAACCGATGTGTATCACGAACTTCTTTTGGGTTATTTGGATTACGCGAAGATGCTGGGCTACACAATGGCTCATATTTGGGCGTGTCCACCATCAGAAGGAGATGACTACATCTTCCACTGCCATCCACCAGAGCAAAAGATTCCAAAGCCGAAGCGTCTCCAGGATTGGTACAAAAAGATGTTGGAGAAGGGAGTGCAGGAGGGAAGTGTCGTTGAATTTAAGGATATATACAag/ag | ||||||
| Amino_acid_change | WHRICALHDKKVYPEGFICECCRTAKKYQKPDNKYLASKLPHNKLSTFLEDRVNGFIKKQLQAEAHKYPVIIRTLCVQDKEAEVKAQMKQKYVESNQFPEKFPYRTKAVFAFEIIDGVEVCFFGLHVQEYGSACPAPNARRVYIAYLDSVHFFQPRELRTDVYHELLLGYLDYAKMLGYTMAHIWACPPSEGDDYIFHCHPPEQKIPKPKRLQDWYKKMLEKGVQEGSVVEFKDIYK/X | ||||||
| Isolation | Mutagen | EMS | |||||
| Description | Phenotype | WBPhenotype:0000062 | Paper_evidence | WBPaper00060764 | |||
| Curator_confirmed | WBPerson557 | ||||||
| Remark | Mutants carrying homozygous cbp-1(ok1491) loss-of-function alleles die. | Paper_evidence | WBPaper00060764 | ||||
| Curator_confirmed | WBPerson557 | ||||||
| WBPhenotype:0002278 | Paper_evidence | WBPaper00060764 | |||||
| Curator_confirmed | WBPerson557 | ||||||
| Remark | Heterozygous cbp-1(ok1491) mutant animals over either a balancer (bal) or wild type (+) chromosome failed to develop AFT. | Paper_evidence | WBPaper00060764 | ||||
| Curator_confirmed | WBPerson557 | ||||||
| Haplo_insufficient | Paper_evidence | WBPaper00060764 | |||||
| Curator_confirmed | WBPerson557 | ||||||
| Reference | WBPaper00060764 | ||||||
| Remark | Sequenced by the C. elegans Gene Knockout Consortium | Paper_evidence | WBPaper00041807 | ||||
| Method | KO_consortium_allele |
