WormBase Tree Display for Variation: WBVar00089249
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WBVar00089249 | Evidence | Paper_evidence | WBPaper00032247 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | mu327 | |||||||
Other_name | CE28273:p.Gly30Glu | ||||||||
ZC504.4b.1:c.89G>A | |||||||||
CE32767:p.Gly30Glu | |||||||||
CE25673:p.Gly30Glu | |||||||||
ZC504.4c.1:c.89G>A | |||||||||
ZC504.4d.1:c.89G>A | |||||||||
ZC504.4a.1:c.89G>A | |||||||||
CE25672:p.Gly30Glu | |||||||||
HGVSg | CHROMOSOME_X:g.10428108C>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | ZC504 | |||||
Flanking_sequences | tcttcgagctaattgaggttgttggaaatg | aacttacgggcaagtgtataagggtcgaca | |||||||
Mapping_target | ZC504 | ||||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00032247 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00004868 | ||||||||
Laboratory | CF | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00003247 | |||||||
Transcript | ZC504.4d.1 (12) | ||||||||
ZC504.4a.1 (12) | |||||||||
ZC504.4c.1 (12) | |||||||||
ZC504.4b.1 (12) | |||||||||
Interactor | WBInteraction000558202 | ||||||||
Genetics | Interpolated_map_position | X | 2.1913 | ||||||
Description | Phenotype | WBPhenotype:0000134 | Paper_evidence | WBPaper00006110 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | mab-5::LacZ expression in the QL daughters (Table 5) is reduced compared to Wild type. | Paper_evidence | WBPaper00006110 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Incomplete | 72% (N=61) | Paper_evidence | WBPaper00006110 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0004056 | PATO:0000460 | Paper_evidence | WBPaper00006110 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Genotype | muIs3 or muIs4 | Paper_evidence | WBPaper00006110 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000296 | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | mutants exhibit a low level of crumpled spicules | Paper_evidence | WBPaper00006110 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Incomplete | 64% (N=28) | Paper_evidence | WBPaper00006110 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005312 | PATO:0000460 | Paper_evidence | WBPaper00006110 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Genotype | him-5(e1490) | Paper_evidence | WBPaper00006110 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000469 | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Isolated in a sceen for viable mutant lines that exhibited migration defects in the QR and/or QR lineage. | Paper_evidence | WBPaper00006110 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0008598 | PATO:0000460 | Paper_evidence | WBPaper00006110 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000583 | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000640 | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000643 | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000697 | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001305 | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | mutants exhibit a low level of missing or displaced hooks in the male tail. | Paper_evidence | WBPaper00006110 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | High | 95% (N=28) | Paper_evidence | WBPaper00006110 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0008425 | PATO:0000460 | Paper_evidence | WBPaper00006110 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Genotype | him-5(e1490) | Paper_evidence | WBPaper00006110 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001509 | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Complete | 100% (N=28) | Paper_evidence | WBPaper00006110 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00006110 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006941 | PATO:0000460 | Paper_evidence | WBPaper00006110 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Genotype | him-5(e1490) | Paper_evidence | WBPaper00006110 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00006110 | ||||||||
Method | Substitution_allele |