WormBase Tree Display for Variation: WBVar00089625
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WBVar00089625 | Evidence | Paper_evidence | WBPaper00005774 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | n612 | |||||||
Other_name (16) | |||||||||
HGVSg | CHROMOSOME_IV:g.1877300G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | F55A8 | |||||
Flanking_sequences | acgattacaccgcccgtttctacgtggcct | cgtgctcgagggtctcgaatatctgcatcg | |||||||
Mapping_target | F55A8 | ||||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00005774 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00026828 | ||||||||
Laboratory | MT | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00001173 | |||||||
Transcript | F55A8.2g.1 (12) | ||||||||
F55A8.2e.1 (12) | |||||||||
F55A8.2d.1 | VEP_consequence | intron_variant | |||||||
VEP_impact | MODIFIER | ||||||||
HGVSc | F55A8.2d.1:c.493-2544G>A | ||||||||
Intron_number | 3/3 | ||||||||
F55A8.2f.1 | VEP_consequence | missense_variant | |||||||
VEP_impact | MODERATE | ||||||||
SIFT | 0 | deleterious_low_confidence | |||||||
PolyPhen | 1 | probably_damaging | |||||||
HGVSc | F55A8.2f.1:c.797G>A | ||||||||
HGVSp | CE37242:p.Cys266Tyr | ||||||||
cDNA_position | 925 | ||||||||
CDS_position | 797 | ||||||||
Protein_position | 266 | ||||||||
Exon_number | 5/6 | ||||||||
Codon_change | tGc/tAc | ||||||||
Amino_acid_change | C/Y | ||||||||
F55A8.2b.1 (12) | |||||||||
F55A8.2c.1 (12) | |||||||||
F55A8.2h.1 (12) | |||||||||
F55A8.2a.2 (12) | |||||||||
F55A8.2a.1 (12) | |||||||||
Genetics | Interpolated_map_position | IV | -14.2332 | ||||||
Description | Phenotype | WBPhenotype:0000006 | Paper_evidence | WBPaper00000635 | |||||
Curator_confirmed | WBPerson48 | ||||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00000635 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPhenotype:0000017 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | n479 and n612 mutants of egl-4 are strongly resistant to aldicarb | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Affected_by | Molecule | WBMol:00003650 | Paper_evidence | WBPaper00004310 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000022 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants have increased body length | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000130 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | All alleles of egl-4 exhibit hypersensitivity to dauer pheromone | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Temperature | 25C | Paper_evidence | WBPaper00004310 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000294 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants have dark intestines (Din) | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000303 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants fail to respond to all concentrations of diacetyl tested | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Affected_by | Molecule | WBMol:00002819 | Paper_evidence | WBPaper00004310 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000304 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 alleles exhibit weaker but significant defects in the response to isoamyl alcohol | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Affected_by | Molecule | WBMol:00001063 | Paper_evidence | WBPaper00004310 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000420 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | n612 mutants are hypersensitive to levamisole | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Affected_by | Molecule | WBMol:00004019 | Paper_evidence | WBPaper00004310 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000480 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 alleles exhibit weaker but significant defects in the response to pyrazine | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Affected_by | Molecule | WBMol:00005360 | Paper_evidence | WBPaper00004310 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000545 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants retain approximately three times as many eggs as wild-type adults | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00004310 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000639 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 alleles exhibit a Daf-c phenotype to varying degrees at 27C | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Temperature | 27C | Paper_evidence | WBPaper00004310 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000662 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Mutants have foraging defects (data not shown) | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001084 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants have strong defects in the response to NaCl | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Affected_by | Molecule | WBMol:00003571 | Paper_evidence | WBPaper00004310 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001085 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 alleles exhibit weaker but significant defects in the response to butanone | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Affected_by | Molecule | WBMol:00005086 | Paper_evidence | WBPaper00004310 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001414 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Mutants have male mating defects (data not shown) | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001483 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants lay eggs at a later developmental stage, likely as a consequence of delayed active egg-laying periods | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00004310 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001500 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants have strong defects in the response to 2,3-pentanedione | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Affected_by | Molecule | WBMol:00001715 | Paper_evidence | WBPaper00004310 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001565 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants have strong defects in the response to lysine | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_not_observed | WBPhenotype:0000249 | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants were found to be wild type in their responses to osmotic shock (data not shown). | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000302 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants have normal responses to the odorant benzaldehyde | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Affected_by | Molecule | WBMol:00002087 | Paper_evidence | WBPaper00004310 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000398 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants were found to be wild type in their responses to gentle body touch (data not shown). | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000660 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants exhibit little if any clumpy behavior (iwhere animals tend to congregate in clumps) | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001086 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | All egl-4 mutants except n478 exhibit wild-type response to trimethylthiazole | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Affected_by | Molecule | WBMol:00004538 | Paper_evidence | WBPaper00004310 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001221 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants were found to be wild type in their responses to nose touch (data not shown). | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001448 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants were found to be wild type in their responses to volatile repellents (data not shown). | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0002535 | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | egl-4 mutants dye-fill normally and no obvious defects in the morphology of the neurons were visible (data not shown). | Paper_evidence | WBPaper00004310 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00004310 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Reference | WBPaper00004310 | ||||||||
WBPaper00000635 | |||||||||
WBPaper00017625 | |||||||||
WBPaper00011220 | |||||||||
WBPaper00023070 | |||||||||
Method | Substitution_allele |