WormBase Tree Display for Variation: WBVar00242654
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WBVar00242654 | Evidence | Paper_evidence | WBPaper00004448 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | sb106 | ||||||
Other_name | CE08098:p.Arg117His | |||||||
C10H11.9.1:c.350G>A | ||||||||
HGVSg | CHROMOSOME_I:g.4743258C>T | |||||||
Sequence_details | SMap | S_parent | Sequence | C10H11 | ||||
Flanking_sequences | gagctgactctgcattcttctgggaggaac | tgatattatggctcacgcgaatagcgaatg | ||||||
Mapping_target | C10H11 | |||||||
Type_of_mutation | Substitution | g | a | |||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Laboratory | HR | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00002694 | ||||||
Transcript | C10H11.9.1 (12) | |||||||
Interactor | WBInteraction000501465 | |||||||
Genetics | Interpolated_map_position | I | -0.750198 | |||||
Description | Phenotype | WBPhenotype:0000052 | Paper_evidence | WBPaper00004448 | ||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Allele not as dominant-negative at 20 deg C. | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
Variation_effect | Dominant_negative_gain_of_function | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
Maternal | Strictly_maternal | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000154 | Paper_evidence | WBPaper00004448 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | At 20 deg C, let-502(sb106) mutants produced ~30 progeny/hermaphrodite, but brood size increased to ~150 progeny/hermaphrodite by outcross- ing to either wild-type or let-502(sb106) males. This suggests that let-502(sb106) sterility is due to the homozygous hermaphrodite having limited amounts of available sperm. | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
Maternal | With_maternal_effect | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000266 | Paper_evidence | WBPaper00004448 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Mutants displayed incompletely penetrant early cleavage defects. At 25 deg C, 58% of the progeny from let-502(sb106) homozygotes either failed to complete any cleavages or formed cleavage furrows that would then regress. All of the let-502(sb106) embryos that failed to hatch had cleavage defects and died prior to morphogenesis (n=20). | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
Variation_effect | Dominant_negative_gain_of_function | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
Maternal | With_maternal_effect | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000645 | Paper_evidence | WBPaper00004448 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Allele not as dominant-negative at 20 deg C. | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
Variation_effect | Dominant_negative_gain_of_function | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
Maternal | With_maternal_effect | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000688 | Paper_evidence | WBPaper00004448 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | sterile, semi-sterile at 20 deg C | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
Variation_effect | Dominant_negative_gain_of_function | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
Maternal | With_maternal_effect | Paper_evidence | WBPaper00004448 | |||||
Curator_confirmed | WBPerson712 | |||||||
Reference | WBPaper00026257 | |||||||
WBPaper00004448 | ||||||||
Method | Substitution_allele |