WormBase Tree Display for Variation: WBVar00088091
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WBVar00088091 | Name | Public_name | jh101 | ||||||
---|---|---|---|---|---|---|---|---|---|
Other_name | Y38A10A.5.1:c.322-37_*97del | ||||||||
HGVSg | CHROMOSOME_V:g.6099075_6100130del | ||||||||
Sequence_details | SMap | S_parent | Sequence | Y38A10A | |||||
Flanking_sequences | aattttttcgcattagtttgttagtatcaa | tgattgttttattaatttattgagcatcca | |||||||
Mapping_target | Y38A10A | ||||||||
Type_of_mutation | Deletion | ||||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00023525 | ||||||||
Laboratory | KJ | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00000802 | |||||||
WBGene00021391 | |||||||||
Transcript | Y38A10A.6.1 | VEP_consequence | 3_prime_UTR_variant | ||||||
VEP_impact | MODIFIER | ||||||||
cDNA_position | 1747-? | ||||||||
Exon_number | 6/6 | ||||||||
Y38A10A.5.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | Y38A10A.5.1:c.322-37_*97del | ||||||||
cDNA_position | ?-1318 | ||||||||
Intron_number | 2-3/4 | ||||||||
Exon_number | 3-5/5 | ||||||||
Interactor | WBInteraction000502301 | ||||||||
WBInteraction000502302 | |||||||||
Genetics | Interpolated_map_position | V | -0.354219 | ||||||
Mapping_data | In_multi_point | 4240 | |||||||
Description | Phenotype | WBPhenotype:0000154 | Paper_evidence | WBPaper00026928 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | crt-1 mutants showed a lower brood size at 20 C and a significantly decreased brood size at 25 C, compared to those of wild-type animals | Paper_evidence | WBPaper00026928 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Temperature_sensitive | Heat_sensitive | 25C | Paper_evidence | WBPaper00026928 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Temperature | 20C, 25C | Paper_evidence | WBPaper00026928 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001485 | Paper_evidence | WBPaper00026928 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Mutant animals are hypersensitive to EGTA and DTT (inducers of ER stress) | Paper_evidence | WBPaper00026928 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Treatment | 0-10mM of EGTA or DTT | Paper_evidence | WBPaper00026928 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001719 | Paper_evidence | WBPaper00030877 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | In the absence of CRT-1, normal development was significantly affected when the worms undergo ER stress | Paper_evidence | WBPaper00030877 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00030877 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000023 | PATO:0000460 | Paper_evidence | WBPaper00030877 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Treatment | Analysis of crt-1 expression under TM (30 ug/ml) stress | Paper_evidence | WBPaper00030877 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001724 | Paper_evidence | WBPaper00030877 | |||||||
WBPaper00026928 | |||||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | The crt-1(jh101) mutants are hypersensitive to TM stress. The arrested larvae had many vacuole-like structures in their body, which are indicative of necrotic cell death | Paper_evidence | WBPaper00030877 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Mutants were severely affected by tunicamycin | Paper_evidence | WBPaper00026928 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00030877 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000023 | PATO:0000460 | Paper_evidence | WBPaper00030877 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Treatment | For the TM sensitivity assay, gravid adult worms of indicated strain were allowed to lay eggs on plates containing various amount of TM (0, 2, 5, or 10 ug/ml) for 4 h, after which the adults were removed from the plates. The developmental stages of the worms were examined after three days | Paper_evidence | WBPaper00030877 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
0-7.5 ug/ml of tunicamycin | Paper_evidence | WBPaper00026928 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Reference | WBPaper00026928 | ||||||||
WBPaper00030877 | |||||||||
Remark | Deletion endpoints are approximate and are estimated from Figure 1A of paper which notes the deletion covering 1.1 kb of sequence. [030507 krb] | Paper_evidence | WBPaper00004858 | ||||||
Method | Deletion_allele |