WormBase Tree Display for Variation: WBVar00089674
expand all nodes | collapse all nodes | view schema
WBVar00089674 | Evidence | Paper_evidence | WBPaper00002466 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | n686 | |||||||
Other_name | M01D7.7b.1:c.438-1G>A | ||||||||
M01D7.7a.1:c.594-1G>A | |||||||||
HGVSg | CHROMOSOME_I:g.1839250G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | M01D7 | |||||
Flanking_sequences | cattcaaaaaacggaaaattgtgttttcca | aatggtggacgtcggaggtcagcgatcaga | |||||||
Mapping_target | M01D7 | ||||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00002466 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00022472 | ||||||||
WBStrain00026844 | |||||||||
Laboratory | MT | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00001196 | |||||||
Transcript | M01D7.7b.1 | VEP_consequence | splice_acceptor_variant | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | M01D7.7b.1:c.438-1G>A | ||||||||
Intron_number | 4/8 | ||||||||
M01D7.7a.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | M01D7.7a.1:c.594-1G>A | ||||||||
Intron_number | 5/9 | ||||||||
Interactor | WBInteraction000503446 | ||||||||
WBInteraction000517563 | |||||||||
WBInteraction000517571 | |||||||||
WBInteraction000518669 | |||||||||
WBInteraction000520751 | |||||||||
WBInteraction000524573 | |||||||||
WBInteraction000542452 | |||||||||
Genetics | Interpolated_map_position | I | -12.5532 | ||||||
Mapping_data | In_2_point | 736 | |||||||
In_multi_point | 634 | ||||||||
In_pos_neg_data | 3968 | ||||||||
3976 | |||||||||
3986 | |||||||||
3994 | |||||||||
4003 | |||||||||
4087 | |||||||||
6277 | |||||||||
Description | Phenotype | WBPhenotype:0000006 | Paper_evidence | WBPaper00031438 | |||||
WBPaper00002305 | |||||||||
Curator_confirmed | WBPerson2369 | ||||||||
WBPerson557 | |||||||||
Semi_dominant | Paper_evidence | WBPaper00002305 | |||||||
Curator_confirmed | WBPerson557 | ||||||||
WBPhenotype:0000007 | Paper_evidence | WBPaper00000914 | |||||||
Curator_confirmed | WBPerson48 | ||||||||
Penetrance | Incomplete | Paper_evidence | WBPaper00000914 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPhenotype:0000022 | Paper_evidence | WBPaper00002305 | |||||||
Curator_confirmed | WBPerson557 | ||||||||
WBPhenotype:0000031 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000070 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | slight morpho-Mab | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000153 | Paper_evidence | WBPaper00002305 | |||||||
Curator_confirmed | WBPerson557 | ||||||||
WBPhenotype:0000205 | Paper_evidence | WBPaper00002305 | |||||||
Curator_confirmed | WBPerson557 | ||||||||
Semi_dominant | Paper_evidence | WBPaper00002305 | |||||||
Curator_confirmed | WBPerson557 | ||||||||
WBPhenotype:0000229 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000349 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Muscle activation defective (flaccid, long). | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000481 | Paper_evidence | WBPaper00037778 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
Remark | egl-30(n686) mutants were defective in the avoidance response to high osmotic strength (1 molar glycerol) compared to wild type controls (Figure 2a). | Paper_evidence | WBPaper00037778 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
egl-30(n686) mutants were defective in the avoidance response to 10 millimolar quinine, compared to wild type controls (Figure 2a). | Paper_evidence | WBPaper00037778 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
Rescued_by_transgene | WBTransgene00020540 | ||||||||
Affected_by | Molecule | WBMol:00003633 | Paper_evidence | WBPaper00037778 | |||||
Curator_confirmed | WBPerson2987 | ||||||||
WBMol:00003904 | Paper_evidence | WBPaper00037778 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0000545 | Paper_evidence | WBPaper00000914 | |||||||
WBPaper00000635 | |||||||||
WBPaper00050796 | |||||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPerson2987 | |||||||||
Remark | Figure 5A | Paper_evidence | WBPaper00050796 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
Semi_dominant | Paper_evidence | WBPaper00000635 | |||||||
Curator_confirmed | WBPerson48 | ||||||||
EQ_annotations | GO_term | GO:0018991 | PATO:0000460 | Paper_evidence | WBPaper00050796 | ||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0000631 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | variable drug response | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000643 | Paper_evidence | WBPaper00002305 | |||||||
Curator_confirmed | WBPerson557 | ||||||||
WBPhenotype:0000644 | Paper_evidence | WBPaper00002305 | |||||||
Curator_confirmed | WBPerson557 | ||||||||
Remark | Flaccid paralysis. | Paper_evidence | WBPaper00002305 | ||||||
Curator_confirmed | WBPerson557 | ||||||||
WBPhenotype:0000646 | Paper_evidence | WBPaper00000914 | |||||||
WBPaper00000635 | |||||||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPerson712 | |||||||||
Remark | Unc slow, very sluggish phenotype. | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Semi_dominant | Paper_evidence | WBPaper00000914 | |||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPhenotype:0000795 | Paper_evidence | WBPaper00050847 | |||||||
Curator_confirmed | WBPerson38423 | ||||||||
Remark | "Reduction-of-function mutation of egl-30 led to an increase in flipping rate during lethargus and also showed prominent flipping outside of lethargus (figure 6B)" | Paper_evidence | WBPaper00050847 | ||||||
Curator_confirmed | WBPerson38423 | ||||||||
Variation_effect | Hypomorph_reduction_of_function | Paper_evidence | WBPaper00050847 | ||||||
Curator_confirmed | WBPerson38423 | ||||||||
Phenotype_assay | Strain | WBStrain00026844 | Paper_evidence | WBPaper00050847 | |||||
Curator_confirmed | WBPerson38423 | ||||||||
Control_strain | WBStrain00000001 | Paper_evidence | WBPaper00050847 | ||||||
Curator_confirmed | WBPerson38423 | ||||||||
WBPhenotype:0000862 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Moderate bloating. Easy to score (ES3) in adult, difficult to score (ES2) at other stages. | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Ease_of_scoring | ES3_Easy_to_score | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001068 | Paper_evidence | WBPaper00000635 | |||||||
Curator_confirmed | WBPerson48 | ||||||||
Penetrance | Incomplete | variable | Paper_evidence | WBPaper00000635 | |||||
Curator_confirmed | WBPerson48 | ||||||||
Phenotype_assay | Treatment | 5 mg/ml serotonin | Paper_evidence | WBPaper00000635 | |||||
Curator_confirmed | WBPerson48 | ||||||||
WBPhenotype:0001340 | Paper_evidence | WBPaper00000635 | |||||||
Curator_confirmed | WBPerson48 | ||||||||
Penetrance | Incomplete | variable | Paper_evidence | WBPaper00000635 | |||||
Curator_confirmed | WBPerson48 | ||||||||
Phenotype_assay | Treatment | 0.75 mg/ml imipramine | Paper_evidence | WBPaper00000635 | |||||
Curator_confirmed | WBPerson48 | ||||||||
WBPhenotype:0001785 | Paper_evidence | WBPaper00054194 | |||||||
Curator_confirmed | WBPerson28904 | ||||||||
WBPhenotype:0002199 | Paper_evidence | WBPaper00037778 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
Remark | egl-30(n686) mutants exhibited reduced (but not abolished) calcium transients in ASH neurons in response to high osmolarity (1M glycerol) (Figure 4a). | Paper_evidence | WBPaper00037778 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
Affected_by | Molecule | WBMol:00003633 | Paper_evidence | WBPaper00037778 | |||||
Curator_confirmed | WBPerson2987 | ||||||||
Phenotype_not_observed | WBPhenotype:0000436 | Paper_evidence | WBPaper00040857 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Mutations in egl-30 did not cause SNB-1::VENUS localization defects. | Paper_evidence | WBPaper00040857 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00040857 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00040857 | ||||||||
WBPaper00000635 | |||||||||
WBPaper00015719 | |||||||||
WBPaper00015453 | |||||||||
WBPaper00037778 | |||||||||
WBPaper00002466 | |||||||||
WBPaper00000914 | |||||||||
WBPaper00031438 | |||||||||
WBPaper00050796 | |||||||||
WBPaper00050847 | |||||||||
WBPaper00054194 | |||||||||
WBPaper00002305 | |||||||||
WBPaper00061175 | |||||||||
WBPaper00065340 | |||||||||
WBPaper00065992 | |||||||||
Remark | Created by WBPerson51134 from the NN_VFP_triage_pipeline | ||||||||
Variation stub/paper connection generated from the May 2021 NN VFP dataset. | |||||||||
Method | Substitution_allele |