WormBase Tree Display for Variation: WBVar00144279
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WBVar00144279 | Evidence | Paper_evidence | WBPaper00004442 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | e1750 | |||||||
Other_name | CE12098:p.Trp57Ter | ||||||||
K10G6.1.1:c.170G>A | |||||||||
HGVSg | CHROMOSOME_II:g.3983457G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | K10G6 | |||||
Flanking_sequences | aaatcagctcaaaatgtaatgttttcaggt | gcaaaactccctgcgacacaacttgtcatt | |||||||
Mapping_target | K10G6 | ||||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00004442 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | CB | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00003017 | |||||||
Transcript | K10G6.1.1 | VEP_consequence | stop_gained,splice_region_variant | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | K10G6.1.1:c.170G>A | ||||||||
HGVSp | CE12098:p.Trp57Ter | ||||||||
cDNA_position | 275 | ||||||||
CDS_position | 170 | ||||||||
Protein_position | 57 | ||||||||
Exon_number | 3/6 | ||||||||
Codon_change | tGg/tAg | ||||||||
Amino_acid_change | W/* | ||||||||
Isolation | Mutagen | EMS | Paper_evidence | WBPaper00004442 | |||||
Genetics | Interpolated_map_position | II | -5.88222 | ||||||
Description | Phenotype | WBPhenotype:0000700 | Paper_evidence | WBPaper00000762 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Vulva is non-functional in some lin-31 hermaphrodites, which results in a bag of worms phenotype | Paper_evidence | WBPaper00000762 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00000762 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00000762 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001414 | Paper_evidence | WBPaper00000762 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | male mating is completely abolished | Paper_evidence | WBPaper00000762 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | High | Paper_evidence | WBPaper00000762 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00000762 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000056 | PATO:0000460 | Paper_evidence | WBPaper00000762 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Genotype | him-5(e1467) | Paper_evidence | WBPaper00000762 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Reference | WBPaper00000762 | ||||||||
Method | Substitution_allele |