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WormBase Tree Display for Variation: WBVar00142960

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Name Class

WBVar00142960EvidencePerson_evidenceWBPerson21026
NamePublic_namee101
Other_nameR12H7.1a.2:c.1039-1G>A
R12H7.1a.1:c.1039-1G>A
R12H7.1b.1:c.847-1G>A
HGVSgCHROMOSOME_X:g.13215704G>A
Sequence_detailsSMapS_parentSequenceR12H7
Flanking_sequencesttacactgaccgaaattaaaccccatttcagatggtgttttcctacttcgtatggttgca
Mapping_targetR12H7
Type_of_mutationSubstitutiongaPerson_evidenceWBPerson21026
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (15)
LaboratoryCB
StatusLive
AffectsGeneWBGene00006749
TranscriptR12H7.1a.2VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScR12H7.1a.2:c.1039-1G>A
Intron_number9/10
R12H7.1a.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScR12H7.1a.1:c.1039-1G>A
Intron_number8/9
R12H7.1b.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScR12H7.1b.1:c.847-1G>A
Intron_number5/5
InteractorWBInteraction000052321
WBInteraction000052323
WBInteraction000052325
WBInteraction000518927
WBInteraction000518931
IsolationMutagenEMS
GeneticsInterpolated_map_positionX10.3258
Mapping_dataIn_2_point (11)
In_multi_point (35)
In_pos_neg_data (19)
DescriptionPhenotype (25)
Phenotype_not_observedWBPhenotype:0001611Paper_evidenceWBPaper00000958
Curator_confirmedWBPerson712
RemarkAnimals exhibit normal halothane sensitivity.Paper_evidenceWBPaper00000958
Curator_confirmedWBPerson712
WBPhenotype:0001612Paper_evidenceWBPaper00002358
Curator_confirmedWBPerson712
RemarkAnimals have a similar EC50 (1020 30mM) compared to N2 (1050 25 mM).Paper_evidenceWBPaper00002358
Curator_confirmedWBPerson712
Phenotype_assayTreatment50 animals were scored for mobility for 10 sec. at each concentration of ethanol after 5 min exposure. EC50's (concentration at which 50% of the animals were immobile for >10 sec) were determined from a dose response curve over a minimum of 12 concentrations (mM). Immobility was used an as endpoint. Upon removal from ethanol, immobility was reversible within 10-15 min. Treatment and scoring of anesthetic responses are described in Sedensky and Meneely, 1987; Morgan et al. , 1990; Morgan and Sedensky, 1994.Paper_evidenceWBPaper00002358
Curator_confirmedWBPerson712
Temperature22-24CPaper_evidenceWBPaper00002358
Curator_confirmedWBPerson712
ReferenceWBPaper00043908
WBPaper00013842
WBPaper00000031
WBPaper00000958
WBPaper00016500
WBPaper00002358
WBPaper00025689
WBPaper00033075
MethodSubstitution_allele