WormBase Tree Display for Variation: WBVar00087759
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| WBVar00087759 | Evidence | Paper_evidence | WBPaper00045487 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | hc50 | |||||||
| Other_name | F53G12.6.1:c.1417C>T | ||||||||
| CE29331:p.Gln473Ter | |||||||||
| HGVSg | CHROMOSOME_I:g.120696C>T | ||||||||
| Sequence_details | SMap | S_parent | Sequence | F53G12 | |||||
| Flanking_sequences | gaagatcgcataagctccaagcaaattatt | agatttttaaggaggtttgtgaagcatttt | |||||||
| Mapping_target | F53G12 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00045487 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00000388 | ||||||||
| Laboratory | BA | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00004962 | |||||||
| Transcript | F53G12.6.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | F53G12.6.1:c.1417C>T | ||||||||
| HGVSp | CE29331:p.Gln473Ter | ||||||||
| cDNA_position | 1433 | ||||||||
| CDS_position | 1417 | ||||||||
| Protein_position | 473 | ||||||||
| Exon_number | 7/9 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Genetics | Interpolated_map_position | I | -19.1968 | ||||||
| Mapping_data | In_pos_neg_data | 6286 | |||||||
| Description | Phenotype | WBPhenotype:0000357 | Paper_evidence | WBPaper00001075 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Recessive | Paper_evidence | WBPaper00001075 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00001075 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Phenotype_assay | Temperature | 16C | Paper_evidence | WBPaper00001075 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| WBPhenotype:0000390 | Paper_evidence | WBPaper00001075 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Remark | Adult hermaphrodites contain spermatids that fail to differentiate into spermatozoa | Paper_evidence | WBPaper00001075 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Recessive | Paper_evidence | WBPaper00001075 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00001075 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Phenotype_assay | Temperature | 16C | Paper_evidence | WBPaper00001075 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| WBPhenotype:0001360 | Paper_evidence | WBPaper00001075 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Recessive | Paper_evidence | WBPaper00001075 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00001075 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Phenotype_assay | Temperature | 16C | Paper_evidence | WBPaper00001075 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| WBPhenotype:0001683 | Paper_evidence | WBPaper00001075 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Remark | Males are normally fertile while unmated hermaphrodites have defects in spermatogenesis | Paper_evidence | WBPaper00001075 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Recessive | Paper_evidence | WBPaper00001075 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00001075 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Phenotype_assay | Temperature | 16C | Paper_evidence | WBPaper00001075 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Reference | WBPaper00001075 | ||||||||
| WBPaper00025921 | |||||||||
| WBPaper00045487 | |||||||||
| Method | Substitution_allele |
