WormBase Tree Display for Variation: WBVar00248884
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| WBVar00248884 | Evidence | Paper_evidence | WBPaper00001404 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Person_evidence | WBPerson625 | ||||||||
| Name | Public_name | sy1 | |||||||
| Other_name | CE03840:p.Gln1318Ter | ||||||||
| ZK1067.1a.1:c.3952C>T | |||||||||
| ZK1067.1d.1:c.3988C>T | |||||||||
| CE50411:p.Gln1330Ter | |||||||||
| CE42910:p.Gln1323Ter | |||||||||
| CE42891:p.Gln1257Ter | |||||||||
| ZK1067.1c.1:c.3967C>T | |||||||||
| ZK1067.1b.1:c.3769C>T | |||||||||
| HGVSg | CHROMOSOME_II:g.9206918C>T | ||||||||
| Sequence_details | SMap | S_parent | Sequence | ZK1067 | |||||
| Flanking_sequences | gcagttcaatatgaaaatgaagaagtatca | aaaaggaaacttgtctttaacttttcgaac | |||||||
| Mapping_target | ZK1067 | ||||||||
| Type_of_mutation | Substitution | C | T | ||||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00030806 | ||||||||
| WBStrain00030807 | |||||||||
| WBStrain00030808 | |||||||||
| WBStrain00030820 | |||||||||
| WBStrain00030836 | |||||||||
| Component_of_genotype | WBGenotype00000109 | ||||||||
| WBGenotype00000110 | |||||||||
| WBGenotype00000111 | |||||||||
| WBGenotype00000112 | |||||||||
| WBGenotype00000113 | |||||||||
| WBGenotype00000114 | |||||||||
| Laboratory | PS | ||||||||
| Author | Sternberg P | ||||||||
| Aroian R | |||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00002299 | |||||||
| Transcript | ZK1067.1d.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK1067.1d.1:c.3988C>T | ||||||||
| HGVSp | CE50411:p.Gln1330Ter | ||||||||
| cDNA_position | 3994 | ||||||||
| CDS_position | 3988 | ||||||||
| Protein_position | 1330 | ||||||||
| Exon_number | 20/21 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| ZK1067.1b.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK1067.1b.1:c.3769C>T | ||||||||
| HGVSp | CE42891:p.Gln1257Ter | ||||||||
| cDNA_position | 3769 | ||||||||
| CDS_position | 3769 | ||||||||
| Protein_position | 1257 | ||||||||
| Exon_number | 16/16 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| ZK1067.1c.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK1067.1c.1:c.3967C>T | ||||||||
| HGVSp | CE42910:p.Gln1323Ter | ||||||||
| cDNA_position | 3967 | ||||||||
| CDS_position | 3967 | ||||||||
| Protein_position | 1323 | ||||||||
| Exon_number | 18/19 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| ZK1067.1a.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK1067.1a.1:c.3952C>T | ||||||||
| HGVSp | CE03840:p.Gln1318Ter | ||||||||
| cDNA_position | 4041 | ||||||||
| CDS_position | 3952 | ||||||||
| Protein_position | 1318 | ||||||||
| Exon_number | 19/20 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Interactor | WBInteraction000007772 | ||||||||
| WBInteraction000050754 | |||||||||
| WBInteraction000052344 | |||||||||
| WBInteraction000500336 | |||||||||
| WBInteraction000500338 | |||||||||
| WBInteraction000502304 | |||||||||
| WBInteraction000517762 | |||||||||
| WBInteraction000518951 | |||||||||
| WBInteraction000521992 | |||||||||
| WBInteraction000521993 | |||||||||
| WBInteraction000524145 | |||||||||
| WBInteraction000535547 | |||||||||
| WBInteraction000535550 | |||||||||
| Isolation | Mutagen | EMS | |||||||
| Forward_genetics | F2 standard screen for non-Muv | ||||||||
| Genetics | Interpolated_map_position | II | 1.09466 | ||||||
| Mapping_data | In_multi_point | 3220 | |||||||
| 3221 | |||||||||
| 3222 | |||||||||
| Description | Phenotype | WBPhenotype:0000006 | Paper_evidence | WBPaper00001404 | |||||
| WBPaper00002375 | |||||||||
| Person_evidence | WBPerson625 | ||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPerson712 | |||||||||
| Remark | Displays intragenic complementation with sy97 for this phenotype, i.e., 53% of sy1/sy97 animals are not Egl. | Paper_evidence | WBPaper00001404 | ||||||
| Person_evidence | WBPerson625 | ||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| Penetrance | Incomplete | Only 8% of animals are not Egl. | Paper_evidence | WBPaper00001404 | |||||
| Person_evidence | WBPerson625 | ||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| Recessive | Paper_evidence | WBPaper00001404 | |||||||
| Person_evidence | WBPerson625 | ||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| Variation_effect | Hypomorph_reduction_of_function | Paper_evidence | WBPaper00001404 | ||||||
| Person_evidence | WBPerson625 | ||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPhenotype:0000219 | Paper_evidence | WBPaper00035553 | |||||||
| Curator_confirmed | WBPerson625 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006748 | PATO:0000460 | Paper_evidence | WBPaper00035553 | ||||
| Curator_confirmed | WBPerson625 | ||||||||
| GO_term | GO:0001708 | PATO:0000460 | Paper_evidence | WBPaper00035553 | |||||
| Curator_confirmed | WBPerson625 | ||||||||
| WBPhenotype:0000640 | Paper_evidence | WBPaper00002811 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Temperature_sensitive | Heat_sensitive | 25 | Paper_evidence | WBPaper00002811 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000698 | Paper_evidence | WBPaper00001404 | |||||||
| WBPaper00002375 | |||||||||
| WBPaper00045219 | |||||||||
| WBPaper00005277 | |||||||||
| Person_evidence | WBPerson625 | ||||||||
| WBPerson261 | |||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPerson712 | |||||||||
| WBPerson2987 | |||||||||
| Remark | Phenotype is not suppressed by sy322. | Paper_evidence | WBPaper00002375 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| LET-23::GFP efficiently rescued the let-23(sy1) vulvaless (Vul) phenotype | Paper_evidence | WBPaper00045219 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Figure 1B | Paper_evidence | WBPaper00005277 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Penetrance | Incomplete | 14% (n=30). | Paper_evidence | WBPaper00001404 | |||||
| Person_evidence | WBPerson625 | ||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| Recessive | Paper_evidence | WBPaper00001404 | |||||||
| Person_evidence | WBPerson625 | ||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| Rescued_by_transgene | WBTransgene00020283 | ||||||||
| WBTransgene00019945 | |||||||||
| Variation_effect | Hypomorph_reduction_of_function | Paper_evidence | WBPaper00001404 | ||||||
| Person_evidence | WBPerson625 | ||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| Phenotype_assay | Treatment | scored by Normarski | Paper_evidence | WBPaper00001404 | |||||
| Person_evidence | WBPerson625 | ||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPhenotype:0001278 | Paper_evidence | WBPaper00027035 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | "Therefore, we introduced deIs1 and deIs4 into a strain containing let-23(sy1),a loss-of-function mutation for the LET-23 receptor tyrosine kinase that compromises Ras signaling in the VPCs (Aroian and Sternberg, 1991). We analyzed the levels of GFP expression in P5.p-P8.p before and after vulval induction in let-23(sy1); deIs4 and let-23(sy1); deIs1 animals and observed no significant (P < 0.01) upregulation in P6.p after vulval induction (Figs. 5B and 6B and data not shown). Therefore, the transcriptional upregulation of lin-39 in P6.p is dependent on Ras signaling." | Paper_evidence | WBPaper00027035 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006894 | PATO:0000460 | Paper_evidence | WBPaper00027035 | ||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | deIs1 [lin-39::GFP] | Paper_evidence | WBPaper00027035 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| deIs4 [lin-39::GFP] | Paper_evidence | WBPaper00027035 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_not_observed | WBPhenotype:0000062 | Paper_evidence | WBPaper00001404 | ||||||
| Person_evidence | WBPerson261 | ||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | viable | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000414 | Paper_evidence | WBPaper00001404 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Animals have 100% wild-type P12 as homozygotes. Animals exhibit low levels of P12-P11 cell transformations when in trans to other let-23 alleles. | Paper_evidence | WBPaper00001404 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0004409 | PATO:0000460 | Paper_evidence | WBPaper00001404 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000443 | Paper_evidence | WBPaper00001404 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000688 | Paper_evidence | WBPaper00001404 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001278 | Paper_evidence | WBPaper00057074 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | neurons did not show a loss in unc-25::GFP expression | Paper_evidence | WBPaper00057074 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Image | WBPicture0000014913 | Paper_evidence | WBPaper00057074 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0005027 | PATO:0000460 | Paper_evidence | WBPaper00057074 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBbt:0005021 | PATO:0000460 | Paper_evidence | WBPaper00057074 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Reference | WBPaper00014707 | ||||||||
| WBPaper00015349 | |||||||||
| WBPaper00014470 | |||||||||
| WBPaper00005277 | |||||||||
| WBPaper00021834 | |||||||||
| WBPaper00017549 | |||||||||
| WBPaper00023354 | |||||||||
| WBPaper00032332 | |||||||||
| WBPaper00010510 | |||||||||
| WBPaper00027035 | |||||||||
| WBPaper00035553 | |||||||||
| WBPaper00017281 | |||||||||
| WBPaper00001404 | |||||||||
| WBPaper00014210 | |||||||||
| WBPaper00015357 | |||||||||
| WBPaper00018138 | |||||||||
| WBPaper00016980 | |||||||||
| WBPaper00002811 | |||||||||
| WBPaper00021791 | |||||||||
| WBPaper00014516 | |||||||||
| WBPaper00002375 | |||||||||
| WBPaper00013922 | |||||||||
| WBPaper00014830 | |||||||||
| WBPaper00014075 | |||||||||
| WBPaper00014627 | |||||||||
| WBPaper00011626 | |||||||||
| WBPaper00013887 | |||||||||
| WBPaper00023121 | |||||||||
| WBPaper00013923 | |||||||||
| WBPaper00014706 | |||||||||
| WBPaper00045219 | |||||||||
| WBPaper00057074 | |||||||||
| Remark | Isolated as suppressor of the Multivulva phenotype of lin-15(n309) in 1987 | Person_evidence | WBPerson625 | ||||||
| WBPerson26 | |||||||||
| Method | Substitution_allele |
