WormBase Tree Display for Variation: WBVar00144808
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WBVar00144808 | Evidence | Paper_evidence | WBPaper00004884 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | e2400 | |||||
Other_name | ZC395.6.1:c.827_835delinsGC | ||||||
CE30119:p.Met276SerfsTer34 | |||||||
HGVSg | CHROMOSOME_III:g.5266308_5266316delinsGC | ||||||
Sequence_details | SMap | S_parent | Sequence | ZC395 | |||
Flanking_sequences | agtacataaatcacagcaaatatggtgtca | ttggtcttaaagaattcgttccatggctca | |||||
Mapping_target | ZC395 | ||||||
Type_of_mutation | Insertion | GC | |||||
Deletion | |||||||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00004566 | ||||||
WBStrain00026646 | |||||||
WBStrain00026651 | |||||||
WBStrain00026665 | |||||||
Laboratory | CB | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00001740 | |||||
Transcript | ZC395.6.1 | VEP_consequence | frameshift_variant | ||||
VEP_impact | HIGH | ||||||
HGVSc | ZC395.6.1:c.827_835delinsGC | ||||||
HGVSp | CE30119:p.Met276SerfsTer34 | ||||||
cDNA_position | 850-858 | ||||||
CDS_position | 827-835 | ||||||
Protein_position | 276-279 | ||||||
Exon_number | 6/11 | ||||||
Codon_change | aTGCAATGTAtt/aGCtt | ||||||
Amino_acid_change | MQCI/SX | ||||||
Interactor | WBInteraction000517499 | ||||||
Genetics (2) | |||||||
Description | Phenotype | WBPhenotype:0000043 | Paper_evidence | WBPaper00003496 | |||
Curator_confirmed | WBPerson712 | ||||||
Remark | Mutants develop more slowly than N2. | Paper_evidence | WBPaper00003496 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000061 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Some increase in life-span; complete maternal rescue. | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Maternal | With_maternal_effect | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000119 | Paper_evidence | WBPaper00036073 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Animals exhibited a significant increase in SOD-1 and SOD-2 expression. | Paper_evidence | WBPaper00036073 | ||||
Curator_confirmed | WBPerson712 | ||||||
Maternal | With_maternal_effect | Paper_evidence | WBPaper00036073 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000402 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Tends to avoid bacterial lawn; complete maternal rescue. | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Maternal | With_maternal_effect | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000676 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Postembryonic growth rate greatly reduced. Complete maternal rescue. Impossible to score (ES0) during zygotic stage. Difficult to score (ES2) at other stages. | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Maternal | With_maternal_effect | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Ease_of_scoring | ES2_Difficult_to_score | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0001273 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Increased resistance to heat-shock; complete maternal rescue. | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Maternal | With_maternal_effect | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Reference | WBPaper00027283 | ||||||
WBPaper00015392 | |||||||
WBPaper00003496 | |||||||
WBPaper00017925 | |||||||
WBPaper00036073 | |||||||
WBPaper00021761 | |||||||
WBPaper00022484 | |||||||
WBPaper00020820 | |||||||
Remark | e2400 is a small rearrangement starting at nucleotide 2720 of ZC395 (the sequence TGCAATGTA is replaced by GC and resulting in a frameshift [030408 ck1] | ||||||
Method | Deletion_and_insertion_allele |