WormBase Tree Display for Variation: WBVar00143286
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WBVar00143286 | Evidence | Person_evidence | WBPerson298 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | e540 | |||||||
Other_name | K11C4.5o.1:c.9049-1G>A | ||||||||
K11C4.5d.1:c.8707-1G>A | |||||||||
K11C4.5e.1:c.9055-1G>A | |||||||||
K11C4.5l.1:c.8701-1G>A | |||||||||
K11C4.5m.1:c.9049-1G>A | |||||||||
K11C4.5c.1:c.9055-1G>A | |||||||||
K11C4.5b.1:c.8707-1G>A | |||||||||
K11C4.5f.1:c.8707-1G>A | |||||||||
K11C4.5n.1:c.8701-1G>A | |||||||||
K11C4.5k.1:c.9049-1G>A | |||||||||
K11C4.5g.1:c.9055-1G>A | |||||||||
K11C4.5i.1:c.9049-1G>A | |||||||||
K11C4.5p.1:c.8701-1G>A | |||||||||
K11C4.5a.1:c.9055-1G>A | |||||||||
K11C4.5j.1:c.8701-1G>A | |||||||||
K11C4.5h.1:c.8707-1G>A | |||||||||
HGVSg | CHROMOSOME_V:g.6912855C>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | K11C4 | |||||
Flanking_sequences | tgagcatctctccttgtagaatgatttttc | tgaaaaaaaaaagaaaattgttgttaacat | |||||||
Mapping_target | K11C4 | ||||||||
Type_of_mutation | Substitution | C | T | ||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00000489 | ||||||||
WBStrain00004179 | |||||||||
WBStrain00008434 | |||||||||
Laboratory | CB | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00006801 | |||||||
Transcript | K11C4.5l.1 | VEP_consequence | splice_acceptor_variant | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5l.1:c.8701-1G>A | ||||||||
Intron_number | 21/45 | ||||||||
K11C4.5e.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5e.1:c.9055-1G>A | ||||||||
Intron_number | 23/49 | ||||||||
K11C4.5a.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5a.1:c.9055-1G>A | ||||||||
Intron_number | 24/50 | ||||||||
K11C4.5k.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5k.1:c.9049-1G>A | ||||||||
Intron_number | 23/47 | ||||||||
K11C4.5g.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5g.1:c.9055-1G>A | ||||||||
Intron_number | 23/48 | ||||||||
K11C4.5n.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5n.1:c.8701-1G>A | ||||||||
Intron_number | 21/46 | ||||||||
K11C4.5d.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5d.1:c.8707-1G>A | ||||||||
Intron_number | 21/46 | ||||||||
K11C4.5i.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5i.1:c.9049-1G>A | ||||||||
Intron_number | 23/48 | ||||||||
K11C4.5c.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5c.1:c.9055-1G>A | ||||||||
Intron_number | 23/48 | ||||||||
K11C4.5j.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5j.1:c.8701-1G>A | ||||||||
Intron_number | 21/46 | ||||||||
K11C4.5p.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5p.1:c.8701-1G>A | ||||||||
Intron_number | 21/45 | ||||||||
K11C4.5o.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5o.1:c.9049-1G>A | ||||||||
Intron_number | 23/47 | ||||||||
K11C4.5h.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5h.1:c.8707-1G>A | ||||||||
Intron_number | 21/45 | ||||||||
K11C4.5m.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5m.1:c.9049-1G>A | ||||||||
Intron_number | 23/48 | ||||||||
K11C4.5b.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5b.1:c.8707-1G>A | ||||||||
Intron_number | 21/46 | ||||||||
K11C4.5f.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | K11C4.5f.1:c.8707-1G>A | ||||||||
Intron_number | 21/46 | ||||||||
Interactor | WBInteraction000501717 | ||||||||
WBInteraction000502865 | |||||||||
WBInteraction000504811 | |||||||||
WBInteraction000520126 | |||||||||
WBInteraction000524783 | |||||||||
WBInteraction000556209 | |||||||||
WBInteraction000556212 | |||||||||
Genetics | Interpolated_map_position | V | 0.473391 | ||||||
Mapping_data | In_2_point | 310 | |||||||
3136 | |||||||||
In_multi_point | 269 | ||||||||
374 | |||||||||
1145 | |||||||||
1303 | |||||||||
1305 | |||||||||
1307 | |||||||||
1309 | |||||||||
1311 | |||||||||
1314 | |||||||||
3160 | |||||||||
3161 | |||||||||
In_pos_neg_data | 847 | ||||||||
1743 | |||||||||
1749 | |||||||||
1775 | |||||||||
3073 | |||||||||
3082 | |||||||||
3432 | |||||||||
Description | Phenotype | WBPhenotype:0000002 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | weak kinker | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Ease_of_scoring | ES3_Easy_to_score | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000164 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000561 | Paper_evidence | WBPaper00000484 | |||||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
Remark | head region but not body resistant to 1 mM levamisole | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Affected_by | Molecule | WBMol:00004019 | Paper_evidence | WBPaper00000484 | |||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
EQ_annotations | Anatomy_term | WBbt:0005739 | PATO:0000460 | Paper_evidence | WBPaper00000484 | ||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
Phenotype_assay | Treatment | 1mM levamisole | Paper_evidence | WBPaper00000484 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000563 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | slight shrinker | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000643 | Paper_evidence | WBPaper00000031 | |||||||
WBPaper00000484 | |||||||||
WBPaper00001474 | |||||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPerson2021 | |||||||||
WBPerson712 | |||||||||
WBPhenotype:0000646 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001599 | Paper_evidence | WBPaper00000484 | |||||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
Remark | Head is resistant to ouabain treatment | Paper_evidence | WBPaper00000484 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
head region but not body resistant to ouabain | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Affected_by | Molecule | WBMol:00001924 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005739 | PATO:0000460 | Paper_evidence | WBPaper00000484 | ||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
Phenotype_assay | Treatment | 1mM ouabain | Paper_evidence | WBPaper00000484 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_not_observed | WBPhenotype:0001645 | Paper_evidence | WBPaper00040284 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
Remark | Table S2 | Paper_evidence | WBPaper00040284 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
Reference | WBPaper00014466 | ||||||||
WBPaper00040284 | |||||||||
WBPaper00001474 | |||||||||
WBPaper00000031 | |||||||||
WBPaper00015529 | |||||||||
WBPaper00017842 | |||||||||
WBPaper00015030 | |||||||||
WBPaper00022183 | |||||||||
WBPaper00002749 | |||||||||
WBPaper00011910 | |||||||||
WBPaper00015497 | |||||||||
WBPaper00022677 | |||||||||
WBPaper00015367 | |||||||||
WBPaper00014634 | |||||||||
WBPaper00017307 | |||||||||
WBPaper00006125 | |||||||||
WBPaper00000484 | |||||||||
WBPaper00015780 | |||||||||
WBPaper00022940 | |||||||||
WBPaper00023194 | |||||||||
Remark | We sequenced e540 for Mueller, et al (eLife, in revision). e540 is a splice acceptor mutation. alt_det = V: 6912855C>T mut_det = G>A in splice acceptor upstream of exon 23 in unc-68 | Person_evidence | WBPerson298 | ||||||
Curator_confirmed | WBPerson51134 | ||||||||
Variation information submitted by WBPerson298 on 2022-10-25_12:05:38 via the Allele submission form. | Curator_confirmed | WBPerson51134 | |||||||
Method | Substitution_allele |