WormBase Tree Display for Variation: WBVar00146327
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| WBVar00146327 | Evidence | Paper_evidence | WBPaper00003941 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | gm83 | |||||||
| Other_name | CE04670:p.Arg128Ter | ||||||||
| F56E3.4b.1:c.382C>T | |||||||||
| CE28464:p.Arg128Ter | |||||||||
| F56E3.4a.1:c.382C>T | |||||||||
| HGVSg | CHROMOSOME_X:g.3198393G>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | F56E3 | |||||
| Flanking_sequences | gcatgcaatggatgttcgggcttcttcaag | gatcagtaagaaggcggctgatttatagat | |||||||
| Mapping_target | F56E3 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00003941 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00027630 | ||||||||
| WBStrain00028736 | |||||||||
| Laboratory | NG | ||||||||
| Author | Wightman B | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00001400 | |||||||
| Transcript | F56E3.4b.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | F56E3.4b.1:c.382C>T | ||||||||
| HGVSp | CE04670:p.Arg128Ter | ||||||||
| cDNA_position | 442 | ||||||||
| CDS_position | 382 | ||||||||
| Protein_position | 128 | ||||||||
| Exon_number | 5/10 | ||||||||
| Codon_change | Cga/Tga | ||||||||
| Amino_acid_change | R/* | ||||||||
| F56E3.4a.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | F56E3.4a.1:c.382C>T | ||||||||
| HGVSp | CE28464:p.Arg128Ter | ||||||||
| cDNA_position | 414 | ||||||||
| CDS_position | 382 | ||||||||
| Protein_position | 128 | ||||||||
| Exon_number | 5/9 | ||||||||
| Codon_change | Cga/Tga | ||||||||
| Amino_acid_change | R/* | ||||||||
| Interactor | WBInteraction000502225 | ||||||||
| WBInteraction000502226 | |||||||||
| Isolation | Mutagen | EMS | |||||||
| Genetics | Interpolated_map_position | X | -10.7534 | ||||||
| Description | Phenotype | WBPhenotype:0000306 | Paper_evidence | WBPaper00026828 | |||||
| Curator_confirmed | WBPerson691 | ||||||||
| Remark | flp-1, ncs-1, nmr-1, and nmr-2 depend on fax-1 | Paper_evidence | WBPaper00026828 | ||||||
| Curator_confirmed | WBPerson691 | ||||||||
| WBPhenotype:0000353 | Paper_evidence | WBPaper00026828 | |||||||
| Curator_confirmed | WBPerson691 | ||||||||
| WBPhenotype:0000384 | Paper_evidence | WBPaper00003941 | |||||||
| Curator_confirmed | WBPerson691 | ||||||||
| WBPhenotype:0000551 | Person_evidence | WBPerson9893 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | omega turns abnormal | Person_evidence | WBPerson9893 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Penetrance | Complete | Person_evidence | WBPerson9893 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Recessive | Person_evidence | WBPerson9893 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Genotype | strain NG83 | Person_evidence | WBPerson9893 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000632 | Paper_evidence | WBPaper00002837 | |||||||
| Curator_confirmed | WBPerson691 | ||||||||
| WBPhenotype:0000643 | Paper_evidence | WBPaper00003941 | |||||||
| Curator_confirmed | WBPerson691 | ||||||||
| WBPhenotype:0001911 | Paper_evidence | WBPaper00045153 | |||||||
| Curator_confirmed | WBPerson25617 | ||||||||
| Remark | AVK regeneration following laser induced axotomy is impaired in fax-1(gm83) | Paper_evidence | WBPaper00045153 | ||||||
| Curator_confirmed | WBPerson25617 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006823 | PATO:0000460 | Paper_evidence | WBPaper00045153 | ||||
| Curator_confirmed | WBPerson25617 | ||||||||
| Reference | WBPaper00026828 | ||||||||
| WBPaper00002837 | |||||||||
| WBPaper00003941 | |||||||||
| WBPaper00011146 | |||||||||
| WBPaper00010476 | |||||||||
| WBPaper00011175 | |||||||||
| WBPaper00045153 | |||||||||
| Method | Substitution_allele |
