WormBase Tree Display for Variation: WBVar00142948
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| WBVar00142948 | Evidence | Paper_evidence | WBPaper00001431 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Person_evidence | WBPerson267 | ||||||||
| Name | Public_name | e73 | |||||||
| Other_name | CE09197:p.Glu342Lys | ||||||||
| F07A5.7a.2:c.1024G>A | |||||||||
| F07A5.7b.1:c.67G>A | |||||||||
| F07A5.7a.1:c.1024G>A | |||||||||
| CE42754:p.Glu23Lys | |||||||||
| HGVSg | CHROMOSOME_I:g.7379262C>T | ||||||||
| Sequence_details | SMap | S_parent | Sequence | F07A5 | |||||
| Flanking_sequences | gagatcatgctccagaagatttctcaactc | agaaggccaagtctcgtcttcaatctgagg | |||||||
| Mapping_target | F07A5 | ||||||||
| Type_of_mutation | Substitution | G | A | ||||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00000393 | ||||||||
| WBStrain00000461 | |||||||||
| WBStrain00000462 | |||||||||
| WBStrain00000463 | |||||||||
| WBStrain00000465 | |||||||||
| WBStrain00000466 | |||||||||
| WBStrain00000467 | |||||||||
| WBStrain00000468 | |||||||||
| WBStrain00000469 | |||||||||
| WBStrain00000470 | |||||||||
| WBStrain00000472 | |||||||||
| WBStrain00000473 | |||||||||
| WBStrain00000474 | |||||||||
| WBStrain00000477 | |||||||||
| WBStrain00000479 | |||||||||
| WBStrain00000481 | |||||||||
| WBStrain00000482 | |||||||||
| WBStrain00000483 | |||||||||
| WBStrain00000493 | |||||||||
| WBStrain00000494 | |||||||||
| WBStrain00004091 | |||||||||
| WBStrain00004382 | |||||||||
| WBStrain00004385 | |||||||||
| WBStrain00004402 | |||||||||
| WBStrain00006193 | |||||||||
| WBStrain00006194 | |||||||||
| WBStrain00006195 | |||||||||
| WBStrain00006196 | |||||||||
| WBStrain00006249 | |||||||||
| WBStrain00006250 | |||||||||
| WBStrain00006258 | |||||||||
| WBStrain00006282 | |||||||||
| WBStrain00006285 | |||||||||
| WBStrain00006287 | |||||||||
| WBStrain00007153 | |||||||||
| Laboratory | CB | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00006754 | |||||||
| Transcript | F07A5.7a.1 | VEP_consequence | missense_variant | ||||||
| VEP_impact | MODERATE | ||||||||
| SIFT | 0 | deleterious | |||||||
| PolyPhen | 0.999 | probably_damaging | |||||||
| HGVSc | F07A5.7a.1:c.1024G>A | ||||||||
| HGVSp | CE09197:p.Glu342Lys | ||||||||
| cDNA_position | 1138 | ||||||||
| CDS_position | 1024 | ||||||||
| Protein_position | 342 | ||||||||
| Exon_number | 9/14 | ||||||||
| Codon_change | Gag/Aag | ||||||||
| Amino_acid_change | E/K | ||||||||
| F07A5.7a.2 | VEP_consequence | missense_variant | |||||||
| VEP_impact | MODERATE | ||||||||
| SIFT | 0 | deleterious | |||||||
| PolyPhen | 0.999 | probably_damaging | |||||||
| HGVSc | F07A5.7a.2:c.1024G>A | ||||||||
| HGVSp | CE09197:p.Glu342Lys | ||||||||
| cDNA_position | 1138 | ||||||||
| CDS_position | 1024 | ||||||||
| Protein_position | 342 | ||||||||
| Exon_number | 9/13 | ||||||||
| Codon_change | Gag/Aag | ||||||||
| Amino_acid_change | E/K | ||||||||
| F07A5.7b.1 | VEP_consequence | missense_variant | |||||||
| VEP_impact | MODERATE | ||||||||
| SIFT | 0 | deleterious | |||||||
| PolyPhen | 0.995 | probably_damaging | |||||||
| HGVSc | F07A5.7b.1:c.67G>A | ||||||||
| HGVSp | CE42754:p.Glu23Lys | ||||||||
| cDNA_position | 67 | ||||||||
| CDS_position | 67 | ||||||||
| Protein_position | 23 | ||||||||
| Exon_number | 1/4 | ||||||||
| Codon_change | Gag/Aag | ||||||||
| Amino_acid_change | E/K | ||||||||
| Interactor | WBInteraction000518394 | ||||||||
| WBInteraction000518614 | |||||||||
| WBInteraction000518905 | |||||||||
| Isolation | Mutagen | EMS | |||||||
| Forward_genetics | standard phenotypic screen | ||||||||
| Genetics | Interpolated_map_position | I | 2.05567 | ||||||
| Mapping_data | In_2_point | 13 | |||||||
| 238 | |||||||||
| 516 | |||||||||
| 1017 | |||||||||
| In_multi_point | 3 | ||||||||
| 10 | |||||||||
| 20 | |||||||||
| 21 | |||||||||
| 22 | |||||||||
| 23 | |||||||||
| 24 | |||||||||
| 27 | |||||||||
| 242 | |||||||||
| 344 | |||||||||
| 436 | |||||||||
| 453 | |||||||||
| 1825 | |||||||||
| 1889 | |||||||||
| In_pos_neg_data | 515 | ||||||||
| 2518 | |||||||||
| 4992 | |||||||||
| 4999 | |||||||||
| 5003 | |||||||||
| 5345 | |||||||||
| Description | Phenotype | WBPhenotype:0000349 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | limp paralysed phenotype | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000509 | Paper_evidence | WBPaper00000536 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Only 3.1% of the sperm have pseudopods, a few of which are smooth. | Paper_evidence | WBPaper00000536 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006798 | PATO:0000460 | Paper_evidence | WBPaper00000536 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000640 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Egl | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000644 | Paper_evidence | WBPaper00000031 | |||||||
| Person_evidence | WBPerson261 | ||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPerson712 | |||||||||
| Remark | limp paralysed phenotype, larvae move slightly better | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Ease_of_scoring | ES3_Easy_to_score | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000646 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | e73/+ slightly slow | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Dominant | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000782 | Paper_evidence | WBPaper00027179 | |||||||
| Curator_confirmed | WBPerson5 | ||||||||
| WBPhenotype:0000861 | Paper_evidence | WBPaper00000031 | |||||||
| Curator_confirmed | WBPerson48 | ||||||||
| Remark | defect in body muscle cells | Paper_evidence | WBPaper00000031 | ||||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPhenotype:0000926 | Paper_evidence | WBPaper00000031 | |||||||
| Person_evidence | WBPerson261 | ||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPerson712 | |||||||||
| Remark | defect in body muscle cells | Paper_evidence | WBPaper00000031 | ||||||
| Curator_confirmed | WBPerson48 | ||||||||
| disorganized muscle structure | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001292 | Paper_evidence | WBPaper00000031 | |||||||
| Curator_confirmed | WBPerson48 | ||||||||
| Remark | defect in body muscle cells | Paper_evidence | WBPaper00000031 | ||||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPhenotype:0001889 | Paper_evidence | WBPaper00027179 | |||||||
| Curator_confirmed | WBPerson5 | ||||||||
| Reference | WBPaper00016541 | ||||||||
| WBPaper00016542 | |||||||||
| WBPaper00000031 | |||||||||
| WBPaper00015829 | |||||||||
| WBPaper00015529 | |||||||||
| WBPaper00000536 | |||||||||
| WBPaper00015915 | |||||||||
| WBPaper00016343 | |||||||||
| WBPaper00016454 | |||||||||
| WBPaper00016578 | |||||||||
| WBPaper00015926 | |||||||||
| WBPaper00012600 | |||||||||
| WBPaper00012674 | |||||||||
| WBPaper00021833 | |||||||||
| WBPaper00022376 | |||||||||
| WBPaper00013649 | |||||||||
| WBPaper00013682 | |||||||||
| WBPaper00016086 | |||||||||
| WBPaper00016155 | |||||||||
| WBPaper00001782 | |||||||||
| WBPaper00012617 | |||||||||
| WBPaper00011913 | |||||||||
| WBPaper00014041 | |||||||||
| WBPaper00014106 | |||||||||
| WBPaper00020841 | |||||||||
| WBPaper00013745 | |||||||||
| WBPaper00018459 | |||||||||
| WBPaper00025391 | |||||||||
| WBPaper00015996 | |||||||||
| WBPaper00023238 | |||||||||
| WBPaper00027179 | |||||||||
| Remark | Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00006754 Missense 342 E to K | ||||||||
| Method | Substitution_allele |
