WormBase Tree Display for Variation: WBVar00251525
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| WBVar00251525 | Name | Public_name | tm2678 | ||||
|---|---|---|---|---|---|---|---|
| Other_name | CE45256:p.Ser411Ter | ||||||
| CE19874:p.Ser475Ter | |||||||
| F46F3.4b.1:c.1231_1859del | |||||||
| F46F3.4d.1:c.139_767del | |||||||
| CE45269:p.Ser139Ter | |||||||
| F46F3.4a.1:c.1423_2051del | |||||||
| F46F3.4c.1:c.415_1043del | |||||||
| CE45244:p.Ser47Ter | |||||||
| HGVSg | CHROMOSOME_V:g.11683920_11684548del | ||||||
| Sequence_details | SMap | S_parent | Sequence | F46F3 | |||
| Flanking_sequences | TCAGAAACATATGCCGAAGAAGTTGTCAAT | TAATACTGGAAAAGTTTACGCTGCTTATGG | |||||
| Mapping_target | F46F3 | ||||||
| Type_of_mutation | Deletion | ||||||
| PCR_product | tm2678_external | ||||||
| tm2678_internal | |||||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | FX | ||||||
| Author | Mitani S | ||||||
| DB_info | Database | National_Bioresource_Project | seq | 2678 | |||
| NBP_allele | |||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00000146 | |||||
| Transcript | F46F3.4a.1 | VEP_consequence | frameshift_variant | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | F46F3.4a.1:c.1423_2051del | ||||||
| HGVSp | CE19874:p.Ser475Ter | ||||||
| cDNA_position | 1447-2075 | ||||||
| CDS_position | 1423-2051 | ||||||
| Protein_position | 475-684 | ||||||
| Exon_number | 8/10 | ||||||
| Codon_change | TCAGAATCGAAACAAGTTGCTACAAGTTCGGATTCCACTAATAATCTTGAATTGCCAACCGAACAAATGGTATTAGGTAGTGATACCACAACAGAAGAAGATGCAAGTTCGTGTTCAACACGTTCTGATGATGGACAGAATCTTGAAATGGAAGTTGCGATTGAAAGAAGAACTGTTAAAGGCATTTTGAGAAGACCTAATGAAAAGATGAACAAAGGTCGCATTGAATTTGACCCATTAGCACTCTTGCTCGATGCTGCTTTAGAAGGAGAACTCGATTTAGTGAGAAGCAGTGCCTCAAAGCTAACAGATGTCTCACAGGCCAATGATGAAGGGATTACGGCGTTGCACAATGCGATTTGTGCTGGACACTATGAGATTGTAAGATTTTTGATCGAGAACGACGCTGATGTGAATGCTCAAGATTCCGATGGTTGGACTCCACTTCATTGTGCAGCTTCCTGTAATAACCTTCCAATGGTTAGACAACTTGTGGAAGGAGGAGGATGCGTTCTCGCTTCGACACTATCTGATATGGAAACACCTGTGGAGAAGTGTGAAGAAGATGAAGATGGTTATGATGGATGTTTGAAGTATCTTTCCGCAGCCCATAACTCAACGGGATCAATt/t | ||||||
| Amino_acid_change | SESKQVATSSDSTNNLELPTEQMVLGSDTTTEEDASSCSTRSDDGQNLEMEVAIERRTVKGILRRPNEKMNKGRIEFDPLALLLDAALEGELDLVRSSASKLTDVSQANDEGITALHNAICAGHYEIVRFLIENDADVNAQDSDGWTPLHCAASCNNLPMVRQLVEGGGCVLASTLSDMETPVEKCEEDEDGYDGCLKYLSAAHNSTGSI/X | ||||||
| F46F3.4c.1 | VEP_consequence | frameshift_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F46F3.4c.1:c.415_1043del | ||||||
| HGVSp | CE45269:p.Ser139Ter | ||||||
| cDNA_position | 415-1043 | ||||||
| CDS_position | 415-1043 | ||||||
| Protein_position | 139-348 | ||||||
| Exon_number | 2/3 | ||||||
| Codon_change | TCAGAATCGAAACAAGTTGCTACAAGTTCGGATTCCACTAATAATCTTGAATTGCCAACCGAACAAATGGTATTAGGTAGTGATACCACAACAGAAGAAGATGCAAGTTCGTGTTCAACACGTTCTGATGATGGACAGAATCTTGAAATGGAAGTTGCGATTGAAAGAAGAACTGTTAAAGGCATTTTGAGAAGACCTAATGAAAAGATGAACAAAGGTCGCATTGAATTTGACCCATTAGCACTCTTGCTCGATGCTGCTTTAGAAGGAGAACTCGATTTAGTGAGAAGCAGTGCCTCAAAGCTAACAGATGTCTCACAGGCCAATGATGAAGGGATTACGGCGTTGCACAATGCGATTTGTGCTGGACACTATGAGATTGTAAGATTTTTGATCGAGAACGACGCTGATGTGAATGCTCAAGATTCCGATGGTTGGACTCCACTTCATTGTGCAGCTTCCTGTAATAACCTTCCAATGGTTAGACAACTTGTGGAAGGAGGAGGATGCGTTCTCGCTTCGACACTATCTGATATGGAAACACCTGTGGAGAAGTGTGAAGAAGATGAAGATGGTTATGATGGATGTTTGAAGTATCTTTCCGCAGCCCATAACTCAACGGGATCAATt/t | ||||||
| Amino_acid_change | SESKQVATSSDSTNNLELPTEQMVLGSDTTTEEDASSCSTRSDDGQNLEMEVAIERRTVKGILRRPNEKMNKGRIEFDPLALLLDAALEGELDLVRSSASKLTDVSQANDEGITALHNAICAGHYEIVRFLIENDADVNAQDSDGWTPLHCAASCNNLPMVRQLVEGGGCVLASTLSDMETPVEKCEEDEDGYDGCLKYLSAAHNSTGSI/X | ||||||
| F46F3.4b.1 | VEP_consequence | frameshift_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F46F3.4b.1:c.1231_1859del | ||||||
| HGVSp | CE45256:p.Ser411Ter | ||||||
| cDNA_position | 1231-1859 | ||||||
| CDS_position | 1231-1859 | ||||||
| Protein_position | 411-620 | ||||||
| Exon_number | 5/7 | ||||||
| Codon_change | TCAGAATCGAAACAAGTTGCTACAAGTTCGGATTCCACTAATAATCTTGAATTGCCAACCGAACAAATGGTATTAGGTAGTGATACCACAACAGAAGAAGATGCAAGTTCGTGTTCAACACGTTCTGATGATGGACAGAATCTTGAAATGGAAGTTGCGATTGAAAGAAGAACTGTTAAAGGCATTTTGAGAAGACCTAATGAAAAGATGAACAAAGGTCGCATTGAATTTGACCCATTAGCACTCTTGCTCGATGCTGCTTTAGAAGGAGAACTCGATTTAGTGAGAAGCAGTGCCTCAAAGCTAACAGATGTCTCACAGGCCAATGATGAAGGGATTACGGCGTTGCACAATGCGATTTGTGCTGGACACTATGAGATTGTAAGATTTTTGATCGAGAACGACGCTGATGTGAATGCTCAAGATTCCGATGGTTGGACTCCACTTCATTGTGCAGCTTCCTGTAATAACCTTCCAATGGTTAGACAACTTGTGGAAGGAGGAGGATGCGTTCTCGCTTCGACACTATCTGATATGGAAACACCTGTGGAGAAGTGTGAAGAAGATGAAGATGGTTATGATGGATGTTTGAAGTATCTTTCCGCAGCCCATAACTCAACGGGATCAATt/t | ||||||
| Amino_acid_change | SESKQVATSSDSTNNLELPTEQMVLGSDTTTEEDASSCSTRSDDGQNLEMEVAIERRTVKGILRRPNEKMNKGRIEFDPLALLLDAALEGELDLVRSSASKLTDVSQANDEGITALHNAICAGHYEIVRFLIENDADVNAQDSDGWTPLHCAASCNNLPMVRQLVEGGGCVLASTLSDMETPVEKCEEDEDGYDGCLKYLSAAHNSTGSI/X | ||||||
| F46F3.4d.1 | VEP_consequence | frameshift_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F46F3.4d.1:c.139_767del | ||||||
| HGVSp | CE45244:p.Ser47Ter | ||||||
| cDNA_position | 139-767 | ||||||
| CDS_position | 139-767 | ||||||
| Protein_position | 47-256 | ||||||
| Exon_number | 1/2 | ||||||
| Codon_change | TCAGAATCGAAACAAGTTGCTACAAGTTCGGATTCCACTAATAATCTTGAATTGCCAACCGAACAAATGGTATTAGGTAGTGATACCACAACAGAAGAAGATGCAAGTTCGTGTTCAACACGTTCTGATGATGGACAGAATCTTGAAATGGAAGTTGCGATTGAAAGAAGAACTGTTAAAGGCATTTTGAGAAGACCTAATGAAAAGATGAACAAAGGTCGCATTGAATTTGACCCATTAGCACTCTTGCTCGATGCTGCTTTAGAAGGAGAACTCGATTTAGTGAGAAGCAGTGCCTCAAAGCTAACAGATGTCTCACAGGCCAATGATGAAGGGATTACGGCGTTGCACAATGCGATTTGTGCTGGACACTATGAGATTGTAAGATTTTTGATCGAGAACGACGCTGATGTGAATGCTCAAGATTCCGATGGTTGGACTCCACTTCATTGTGCAGCTTCCTGTAATAACCTTCCAATGGTTAGACAACTTGTGGAAGGAGGAGGATGCGTTCTCGCTTCGACACTATCTGATATGGAAACACCTGTGGAGAAGTGTGAAGAAGATGAAGATGGTTATGATGGATGTTTGAAGTATCTTTCCGCAGCCCATAACTCAACGGGATCAATt/t | ||||||
| Amino_acid_change | SESKQVATSSDSTNNLELPTEQMVLGSDTTTEEDASSCSTRSDDGQNLEMEVAIERRTVKGILRRPNEKMNKGRIEFDPLALLLDAALEGELDLVRSSASKLTDVSQANDEGITALHNAICAGHYEIVRFLIENDADVNAQDSDGWTPLHCAASCNNLPMVRQLVEGGGCVLASTLSDMETPVEKCEEDEDGYDGCLKYLSAAHNSTGSI/X | ||||||
| Isolation | Mutagen | TMP/UV | |||||
| Genetics | Map | V | |||||
| Description | Phenotype | WBPhenotype:0000062 | Person_evidence | WBPerson7743 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | Classified as lethal OR sterile by the National Bioresource Project of Japan. | Person_evidence | WBPerson7743 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Laboratory_evidence | FX | ||||||
| WBPhenotype:0000183 | Person_evidence | WBPerson7743 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | Comments to the National Bioresource Project of Japan: Dr.M. Hengartner: increased basal germ cell apoptosis | Person_evidence | WBPerson7743 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Laboratory_evidence | WS | ||||||
| WBPhenotype:0000686 | Person_evidence | WBPerson7743 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | Comments to the National Bioresource Project of Japan: Dr.M. Hengartner: defective in ionizing radiation induced apoptosis | Person_evidence | WBPerson7743 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Laboratory_evidence | WS | ||||||
| WBPhenotype:0000688 | Person_evidence | WBPerson7743 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | Classified as lethal OR sterile by the National Bioresource Project of Japan. | Person_evidence | WBPerson7743 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Laboratory_evidence | FX | ||||||
| Remark | 29476/29477-30103/30104 (627 bp deletion) | ||||||
| This knockout was generated by the National BioResource Project, Tokyo, Japan, which is part of the International C. elegans Gene Knockout Consortium, which should be acknowledged in any publications resulting from its use. PMID 23173093 | Paper_evidence | WBPaper00041807 | |||||
| Method | NBP_knockout_allele |
