WormBase Tree Display for Variation: WBVar00089659
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| WBVar00089659 | Evidence | Paper_evidence | WBPaper00002543 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | n671 | |||||||
| Other_name | Y71F9B.5a.2:c.1345C>T | ||||||||
| Y71F9B.5a.1:c.1345C>T | |||||||||
| Y71F9B.5b.1:c.1345C>T | |||||||||
| CE50007:p.Gln381Ter | |||||||||
| CE28810:p.Gln449Ter | |||||||||
| CE25569:p.Gln449Ter | |||||||||
| Y71F9B.5c.1:c.1141C>T | |||||||||
| HGVSg | CHROMOSOME_I:g.2714848C>T | ||||||||
| Sequence_details | SMap | S_parent | Sequence | Y71F9B | |||||
| Flanking_sequences | tgtcaatgctataaattcatgattctcacc | aatggacccgaatgacaattgactgtaaac | |||||||
| Mapping_target | Y71F9B | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00002543 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00008499 | ||||||||
| WBStrain00008500 | |||||||||
| WBStrain00008502 | |||||||||
| WBStrain00024033 | |||||||||
| WBStrain00026829 | |||||||||
| WBStrain00026967 | |||||||||
| WBStrain00027093 | |||||||||
| WBStrain00027149 | |||||||||
| Laboratory | MT | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00003006 | |||||||
| Transcript | Y71F9B.5c.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | Y71F9B.5c.1:c.1141C>T | ||||||||
| HGVSp | CE50007:p.Gln381Ter | ||||||||
| cDNA_position | 1141 | ||||||||
| CDS_position | 1141 | ||||||||
| Protein_position | 381 | ||||||||
| Exon_number | 6/7 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Y71F9B.5a.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | Y71F9B.5a.1:c.1345C>T | ||||||||
| HGVSp | CE25569:p.Gln449Ter | ||||||||
| cDNA_position | 1375 | ||||||||
| CDS_position | 1345 | ||||||||
| Protein_position | 449 | ||||||||
| Exon_number | 9/11 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Y71F9B.5b.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | Y71F9B.5b.1:c.1345C>T | ||||||||
| HGVSp | CE28810:p.Gln449Ter | ||||||||
| cDNA_position | 1376 | ||||||||
| CDS_position | 1345 | ||||||||
| Protein_position | 449 | ||||||||
| Exon_number | 9/11 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Y71F9B.5a.2 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | Y71F9B.5a.2:c.1345C>T | ||||||||
| HGVSp | CE25569:p.Gln449Ter | ||||||||
| cDNA_position | 1672 | ||||||||
| CDS_position | 1345 | ||||||||
| Protein_position | 449 | ||||||||
| Exon_number | 10/12 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Interactor | WBInteraction000000672 | ||||||||
| WBInteraction000001263 | |||||||||
| WBInteraction000051865 | |||||||||
| WBInteraction000500066 | |||||||||
| WBInteraction000500469 | |||||||||
| WBInteraction000500470 | |||||||||
| WBInteraction000500471 | |||||||||
| WBInteraction000500477 | |||||||||
| WBInteraction000500478 | |||||||||
| WBInteraction000500479 | |||||||||
| WBInteraction000500480 | |||||||||
| WBInteraction000500486 | |||||||||
| WBInteraction000500487 | |||||||||
| WBInteraction000500488 | |||||||||
| WBInteraction000500490 | |||||||||
| WBInteraction000500491 | |||||||||
| WBInteraction000500492 | |||||||||
| WBInteraction000500493 | |||||||||
| WBInteraction000500497 | |||||||||
| WBInteraction000500504 | |||||||||
| WBInteraction000501654 | |||||||||
| WBInteraction000501787 | |||||||||
| WBInteraction000502029 | |||||||||
| WBInteraction000502366 | |||||||||
| WBInteraction000502752 | |||||||||
| WBInteraction000502821 | |||||||||
| WBInteraction000502823 | |||||||||
| WBInteraction000503516 | |||||||||
| WBInteraction000503761 | |||||||||
| WBInteraction000518384 | |||||||||
| WBInteraction000524004 | |||||||||
| WBInteraction000524130 | |||||||||
| WBInteraction000524140 | |||||||||
| WBInteraction000524389 | |||||||||
| WBInteraction000534753 | |||||||||
| WBInteraction000535540 | |||||||||
| WBInteraction000535553 | |||||||||
| WBInteraction000535554 | |||||||||
| WBInteraction000535565 | |||||||||
| WBInteraction000535566 | |||||||||
| WBInteraction000535567 | |||||||||
| WBInteraction000535568 | |||||||||
| WBInteraction000535570 | |||||||||
| WBInteraction000535571 | |||||||||
| WBInteraction000535572 | |||||||||
| WBInteraction000535573 | |||||||||
| WBInteraction000535574 | |||||||||
| WBInteraction000538571 | |||||||||
| WBInteraction000538572 | |||||||||
| WBInteraction000538574 | |||||||||
| WBInteraction000538590 | |||||||||
| WBInteraction000538607 | |||||||||
| WBInteraction000538615 | |||||||||
| WBInteraction000538616 | |||||||||
| WBInteraction000538617 | |||||||||
| WBInteraction000538620 | |||||||||
| WBInteraction000538622 | |||||||||
| WBInteraction000538623 | |||||||||
| WBInteraction000542020 | |||||||||
| WBInteraction000542292 | |||||||||
| WBInteraction000542293 | |||||||||
| WBInteraction000563364 | |||||||||
| WBInteraction000563365 | |||||||||
| WBInteraction000563366 | |||||||||
| WBInteraction000563367 | |||||||||
| WBInteraction000563368 | |||||||||
| WBInteraction000563369 | |||||||||
| WBInteraction000563374 | |||||||||
| WBInteraction000563378 | |||||||||
| WBInteraction000563379 | |||||||||
| WBInteraction000563380 | |||||||||
| WBInteraction000563410 | |||||||||
| WBInteraction000563411 | |||||||||
| WBInteraction000563412 | |||||||||
| WBInteraction000563413 | |||||||||
| WBInteraction000563415 | |||||||||
| Genetics | Interpolated_map_position | I | -7.32074 | ||||||
| Mapping_data | In_2_point | 3196 | |||||||
| 7005 | |||||||||
| 7006 | |||||||||
| In_multi_point | 414 | ||||||||
| 1044 | |||||||||
| 1045 | |||||||||
| 1050 | |||||||||
| 2206 | |||||||||
| 2207 | |||||||||
| 3030 | |||||||||
| 3200 | |||||||||
| 3435 | |||||||||
| In_pos_neg_data | 4081 | ||||||||
| 4354 | |||||||||
| 5696 | |||||||||
| 6234 | |||||||||
| 6577 | |||||||||
| 6630 | |||||||||
| 6640 | |||||||||
| Description | Phenotype (35) | ||||||||
| Phenotype_not_observed | WBPhenotype:0000218 | Paper_evidence | WBPaper00031110 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | No significant number of overinduced animals (worms with greater than three VPCs induced) were detected. | Paper_evidence | WBPaper00031110 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00031110 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000219 | Paper_evidence | WBPaper00031110 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | No underinduced animals (worms with fewer than 22 vulval cells or fewer than three VPCs induced) were detected. | Paper_evidence | WBPaper00031110 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00031110 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000239 | Paper_evidence | WBPaper00004481 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | "Among the pairs of inner and outer P6.pxxx cells that adopted different fates in AC ablated wild-type animals, RAS(dn) induced animals, or lin-1 mutants, 64 of 70, 33 of 38 and 48 of 52, respectively, had the proper orientation with vulF facing the normal position of the AC (Table 7). In lin-17 mutants, six of seven also had the proper orientation (P>0.5, Table 7). Therefore, the intrinsic bias of the inner and outer cells to adopt a proper orientation in the 1° pattern is relatively normal when lin-17 is mutated." | Paper_evidence | WBPaper00004481 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0007809 | PATO:0000460 | Paper_evidence | WBPaper00004481 | ||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | syIs49 [zmp-1::GFP] | Paper_evidence | WBPaper00004481 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0000594 | Paper_evidence | WBPaper00004662 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | "We therefore determined the orientation of P(11/12)L/R migration in mutants affecting P12 determination: a lin-44; lin-3 double mutant, a lin-17 mutant (LIN-17 is the putative receptor of Wnt/LIN-44; Herman et_al, 1995; Sawa et_al, 1996), a bar-1 mutant (BAR-1/Armadillo is an effector of the Wnt pathway; Eisenmann et_al, 1998), and an egl-5 mutant. In all mutants observed, both cells of the P11/12 pair generally adopt the P11 fate (Table 1A). If the migration handedness was a consequence of fate determination, it should be unbiased in these mutants. However, we see a biased migration pattern of P(11/12)L/R similar to that of wild type (Table 1A). Thus, a left-right asymmetry between the two cells of the P11/12 pair still exists in mutants of their final fate determination." | Paper_evidence | WBPaper00004662 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0004409 | PATO:0000460 | Paper_evidence | WBPaper00004662 | ||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0000852 | Paper_evidence | WBPaper00002582 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | 21 out of 25 adults produce coelomocytes. | Paper_evidence | WBPaper00002582 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Recessive | Paper_evidence | WBPaper00002582 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00002582 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00002582 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000961 | Paper_evidence | WBPaper00004481 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | "We suspected that LIN-17 could be involved in the asymmetric divisions of the 1° VPC daughter P6.px, despite that the 1° lineage patterning is wild-type in lin-17(lf) mutants (Table 6). First, a lin-17::lacZ reporter gene was expressed in all P6.pxx cells (Sawa et al., 1996). Second, and more importantly, double mutants of lin-17 and lin-18, another gene involved in asymmetric divisions in the 2° vulval lineage, show defects in zmp-1::GFP expression in P6.pxxx cells, although neither single mutant does (Table 6; Ferguson et al., 1987; M. W., W. Katz and P. W. S., unpublished)." | Paper_evidence | WBPaper00004481 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0007809 | PATO:0000460 | Paper_evidence | WBPaper00004481 | ||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | syIs49 [zmp-1::GFP] | Paper_evidence | WBPaper00004481 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0001224 | Paper_evidence | WBPaper00060654 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | There are six Wnt receptors encoded in the C. elegans genome: four Frizzled receptors (LIN-17, CFZ-2, MIG-1 and MOM-5,), one Ror receptor (CAM-1) and one Ryk receptor (LIN-18) (Sawa and Korswagen, 2013). We analyzed the effect of loss-of-function mutations for each receptor and found that loss of cam-1, but not the other receptors, caused defective SMDD axonal development (Figure 1D). | Paper_evidence | WBPaper00060654 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0004972 | PATO:0000460 | Paper_evidence | WBPaper00060654 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBbt:0004971 | PATO:0000460 | Paper_evidence | WBPaper00060654 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001235 | Paper_evidence | WBPaper00004436 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | Animals exhibited wild type V5 cell division polarity (Table 2) | Paper_evidence | WBPaper00004436 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0004890 | PATO:0000460 | Paper_evidence | WBPaper00004436 | ||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBbt:0004876 | PATO:0000460 | Paper_evidence | WBPaper00004436 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBbt:0004250 | PATO:0000460 | Paper_evidence | WBPaper00004436 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBbt:0007446 | PATO:0000460 | Paper_evidence | WBPaper00004436 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBbt:0004246 | PATO:0000460 | Paper_evidence | WBPaper00004436 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBbt:0007463 | PATO:0000460 | Paper_evidence | WBPaper00004436 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Life_stage | WBls:0000024 | PATO:0000460 | Paper_evidence | WBPaper00004436 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Temperature | 25 | Paper_evidence | WBPaper00004436 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Reference (36) | |||||||||
| Method | Substitution_allele |
