WormBase Tree Display for Variation: WBVar00089424
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WBVar00089424 | Evidence | Paper_evidence | WBPaper00031068 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | n324 | |||||||
Other_name | CE25115:p.Leu444Ter | ||||||||
T19B4.7.1:c.1331T>A | |||||||||
HGVSg | CHROMOSOME_I:g.5685157A>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | T19B4 | |||||
Flanking_sequences | cgagaaccagaagacgtcgaacggaggcct | acggtgcagacgaagtcattggaactcctg | |||||||
Mapping_target | T19B4 | ||||||||
Type_of_mutation | Substitution | a | t | Curator_confirmed | WBPerson4055 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00024161 | ||||||||
WBStrain00026722 | |||||||||
Laboratory | MT | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00006776 | |||||||
Transcript | T19B4.7.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | T19B4.7.1:c.1331T>A | ||||||||
HGVSp | CE25115:p.Leu444Ter | ||||||||
cDNA_position | 1394 | ||||||||
CDS_position | 1331 | ||||||||
Protein_position | 444 | ||||||||
Exon_number | 10/19 | ||||||||
Codon_change | tTa/tAa | ||||||||
Amino_acid_change | L/* | ||||||||
Interactor | WBInteraction000500889 | ||||||||
WBInteraction000518897 | |||||||||
WBInteraction000518900 | |||||||||
WBInteraction000536176 | |||||||||
WBInteraction000536177 | |||||||||
WBInteraction000536178 | |||||||||
WBInteraction000536179 | |||||||||
WBInteraction000536180 | |||||||||
Genetics | Interpolated_map_position | I | 0.309528 | ||||||
Description | Phenotype | WBPhenotype:0000164 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0000324 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0000384 | Paper_evidence | WBPaper00040147 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Mutants exhibited a weaker effect on dorsally directed VD axons than unc-6 and unc-5 animals. | Paper_evidence | WBPaper00040147 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Animals had strong axon guidance defects. | Paper_evidence | WBPaper00040147 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005303 | PATO:0000460 | Paper_evidence | WBPaper00040147 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBbt:0006830 | PATO:0000460 | Paper_evidence | WBPaper00040147 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000470 | Paper_evidence | WBPaper00038152 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Weak defects in HSN ventral migration. | Paper_evidence | WBPaper00038152 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006830 | PATO:0000460 | Paper_evidence | WBPaper00038152 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000633 | Paper_evidence | WBPaper00040147 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005303 | PATO:0000460 | Paper_evidence | WBPaper00040147 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBbt:0005270 | PATO:0000460 | Paper_evidence | WBPaper00040147 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000643 | Paper_evidence | WBPaper00001105 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001005 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0001224 | Paper_evidence | WBPaper00001105 | |||||||
WBPaper00032907 | |||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
Remark | HSN axons show ventral blocks (failure to extend ventrally from their cell bodies to the ventral cord) | Paper_evidence | WBPaper00001105 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
HSN axons are misguided in both their initial outgrowth and their ultimate extension to the ventral midline regardless of the HSN cell body position. | Paper_evidence | WBPaper00032907 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | High | Paper_evidence | WBPaper00001105 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Range | 82 | 82 | Paper_evidence | WBPaper00001105 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006830 | PATO:0000460 | Paper_evidence | WBPaper00001105 | ||||
WBPaper00032907 | |||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00001105 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001226 | Paper_evidence | WBPaper00032907 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Animals exhibit commissural axon guidance defects, which are rescued by pan-neuronal expression of UNC-40::GFP. | Paper_evidence | WBPaper00032907 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001639 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0001716 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0001930 | Paper_evidence | WBPaper00032907 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Mutants have dramatically fewer dorsal and ventral arms than control animals. Heterozygous animals are semi-dominant for ventral muscle arm defects but not for dorsal muscle arm defects. These defects are rescued by trIs34[Punc-4::UNC-40::YFP] but not by pan-neuronal expression of UNC-40. | Paper_evidence | WBPaper00032907 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Semi_dominant | Paper_evidence | WBPaper00032907 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00032907 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001934 | Paper_evidence | WBPaper00036485 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Animals exhibit errors in extending contralateral vulval muscles such that they fail to meet at the midline. | Paper_evidence | WBPaper00036485 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Incomplete | Paper_evidence | WBPaper00036485 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Variation_effect | Hypomorph_reduction_of_function | Paper_evidence | WBPaper00036485 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0002284 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0002290 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0002292 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0002295 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0002298 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0002301 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0002310 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0002312 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0002323 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0002336 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0002347 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0004022 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0004023 | Paper_evidence | WBPaper00043908 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
Phenotype_not_observed | WBPhenotype:0000631 | Paper_evidence | WBPaper00035198 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Animals do not exhibit anterior convulsions when treated with pentylenetetrazole(PTZ). | Paper_evidence | WBPaper00035198 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Affected_by | Molecule | WBMol:00004251 | Paper_evidence | WBPaper00035198 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001931 | Paper_evidence | WBPaper00032907 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | The number of lateral muscle arms did not differ significantly from control animals. | Paper_evidence | WBPaper00032907 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00038152 | ||||||||
WBPaper00040147 | |||||||||
WBPaper00043908 | |||||||||
WBPaper00035198 | |||||||||
WBPaper00001105 | |||||||||
WBPaper00032907 | |||||||||
WBPaper00036485 | |||||||||
Remark | Variation flanks and nucleotide change automatically updated to be on the positive strand to fix mapping and gff dumping issues. | ||||||||
[200224 mh6] reverse complemented/swapped the change and flanks to move the variation onto the plus strand | Curator_confirmed | WBPerson4055 | |||||||
Method | Substitution_allele |