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WormBase Tree Display for Variation: WBVar00144808

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Name Class

WBVar00144808EvidencePaper_evidenceWBPaper00004884
NamePublic_namee2400
Other_nameZC395.6.1:c.827_835delinsGC
CE30119:p.Met276SerfsTer34
HGVSgCHROMOSOME_III:g.5266308_5266316delinsGC
Sequence_detailsSMapS_parentSequenceZC395
Flanking_sequencesagtacataaatcacagcaaatatggtgtcattggtcttaaagaattcgttccatggctca
Mapping_targetZC395
Type_of_mutationInsertionGC
Deletion
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004566
WBStrain00026646
WBStrain00026651
WBStrain00026665
LaboratoryCB
StatusLive
AffectsGeneWBGene00001740
TranscriptZC395.6.1VEP_consequenceframeshift_variant
VEP_impactHIGH
HGVScZC395.6.1:c.827_835delinsGC
HGVSpCE30119:p.Met276SerfsTer34
cDNA_position850-858
CDS_position827-835
Protein_position276-279
Exon_number6/11
Codon_changeaTGCAATGTAtt/aGCtt
Amino_acid_changeMQCI/SX
InteractorWBInteraction000517499
GeneticsInterpolated_map_positionIII-1.8507
Mapping_dataIn_multi_point1634
2740
3304
DescriptionPhenotypeWBPhenotype:0000043Paper_evidenceWBPaper00003496
Curator_confirmedWBPerson712
RemarkMutants develop more slowly than N2.Paper_evidenceWBPaper00003496
Curator_confirmedWBPerson712
WBPhenotype:0000061Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkSome increase in life-span; complete maternal rescue.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
MaternalWith_maternal_effectPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000119Paper_evidenceWBPaper00036073
Curator_confirmedWBPerson712
RemarkAnimals exhibited a significant increase in SOD-1 and SOD-2 expression.Paper_evidenceWBPaper00036073
Curator_confirmedWBPerson712
MaternalWith_maternal_effectPaper_evidenceWBPaper00036073
Curator_confirmedWBPerson712
WBPhenotype:0000402Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkTends to avoid bacterial lawn; complete maternal rescue.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
MaternalWith_maternal_effectPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000676Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkPostembryonic growth rate greatly reduced. Complete maternal rescue. Impossible to score (ES0) during zygotic stage. Difficult to score (ES2) at other stages.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
MaternalWith_maternal_effectPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES2_Difficult_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001273Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkIncreased resistance to heat-shock; complete maternal rescue.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
MaternalWith_maternal_effectPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
ReferenceWBPaper00027283
WBPaper00015392
WBPaper00003496
WBPaper00017925
WBPaper00036073
WBPaper00021761
WBPaper00022484
WBPaper00020820
Remarke2400 is a small rearrangement starting at nucleotide 2720 of ZC395 (the sequence TGCAATGTA is replaced by GC and resulting in a frameshift [030408 ck1]
MethodDeletion_and_insertion_allele