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WormBase Tree Display for Variation: WBVar00143753

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Name Class

WBVar00143753EvidencePaper_evidenceWBPaper00003844
NamePublic_namee1112
Other_nameB0432.5b.1:c.631C>T
CE37742:p.Gln211Ter
B0432.5c.1:c.826C>T
B0432.5a.1:c.841C>T
Y43H11AL.3a.2:c.-13+3945G>A
CE45548:p.Gln276Ter
CE29946:p.Gln281Ter
HGVSgCHROMOSOME_II:g.259619C>T
Sequence_detailsSMapS_parentSequenceB0432
Flanking_sequencesgcggtatatcggcaaaatttgaaaattctcaagaggagaaggttttgacagcggatagga
Mapping_targetB0432
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004246
WBStrain00034688
WBStrain00055863
WBStrain00055864
WBStrain00055865
LaboratoryCB
IV
StatusLive
AffectsGeneWBGene00004166
WBGene00000296
TranscriptY43H11AL.3a.2VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScY43H11AL.3a.2:c.-13+3945G>A
Intron_number1/28
B0432.5c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0432.5c.1:c.826C>T
HGVSpCE45548:p.Gln276Ter
cDNA_position910
CDS_position826
Protein_position276
Exon_number5/9
Codon_changeCaa/Taa
Amino_acid_changeQ/*
B0432.5a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0432.5a.1:c.841C>T
HGVSpCE29946:p.Gln281Ter
cDNA_position841
CDS_position841
Protein_position281
Exon_number4/9
Codon_changeCaa/Taa
Amino_acid_changeQ/*
B0432.5b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0432.5b.1:c.631C>T
HGVSpCE37742:p.Gln211Ter
cDNA_position1547
CDS_position631
Protein_position211
Exon_number4/9
Codon_changeCaa/Taa
Amino_acid_changeQ/*
GeneticsInterpolated_map_positionII-15.661
Mapping_dataIn_2_point34
797
In_multi_point45
273
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00049285
WBPaper00059778
Curator_confirmedWBPerson33374
WBPerson23309
Remarkselectively during roaming statePaper_evidenceWBPaper00059778
Curator_confirmedWBPerson23309
WBPhenotype:0000164Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0000227Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
RemarkMutants were close to WT in turning abilityPaper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
WBPhenotype:0000233Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
RemarkDopamine levels are depleted.Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
WBPhenotype:0000234Paper_evidenceWBPaper00036154
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkAnimals exhibited ~75% reduction of dopamine levels as compared to N2.Paper_evidenceWBPaper00036154
Curator_confirmedWBPerson712
Dopamine reduced > 95%.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES1_Very_hard_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000284Paper_evidenceWBPaper00045365
Curator_confirmedWBPerson3609
WBPhenotype:0000319Paper_evidenceWBPaper00049285
Curator_confirmedWBPerson33374
WBPhenotype:0000324Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0000412Paper_evidenceWBPaper00045567
Curator_confirmedWBPerson2162
WBPhenotype:0000641Paper_evidenceWBPaper00041213
Curator_confirmedWBPerson461
RemarkThe locomotion rates of cat-2 mutants were more variable than those of wild-type animals; cat-2 mutants achieve greater peak acceleration, resulting in large fluctuations in the speed within tracks.Paper_evidenceWBPaper00041213
Curator_confirmedWBPerson461
WBPhenotype:0000642Paper_evidenceWBPaper00036154
Curator_confirmedWBPerson712
RemarkAnimals are hyperactive throughout adulthood starting on adult day 0. Treatment with exogenous dopamine rescued the locomotor dysfunction.Paper_evidenceWBPaper00036154
Curator_confirmedWBPerson712
WBPhenotype:0000648Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
RemarkMutants exhibit a relative lack of interest in the hermaphrodite.Paper_evidenceWBPaper00001861
Curator_confirmedWBPerson712
WBPhenotype:0000662Paper_evidenceWBPaper00006375
Curator_confirmedWBPerson712
RemarkARS defective. Animals do not exhibit a higher frequency of high-angled turns during the first 5 minutes observation period.Paper_evidenceWBPaper00006375
Curator_confirmedWBPerson712
WBPhenotype:0001005Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0001265Paper_evidenceWBPaper00042154
Curator_confirmedWBPerson1455
RemarkIn free locomotion, small movement of the head end is slower than the wild type (Fig. 6 and Table 3).Paper_evidenceWBPaper00042154
Curator_confirmedWBPerson1455
WBPhenotype:0001437Paper_evidenceWBPaper00028963
Curator_confirmedWBPerson48
RemarkHypersensitive to dilute concentrations of octanol, based on a comparison with wild type of time it takes to respond.Paper_evidenceWBPaper00028963
Curator_confirmedWBPerson48
Phenotype_assayTreatment5% octanol, on foodPaper_evidenceWBPaper00028963
Curator_confirmedWBPerson48
WBPhenotype:0001444Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
RemarkAnimals were strongly defective in gustatory plasticity.Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were tested for response to 25 mM NaCl after various pre-treatments: a 15-min wash in CTX buffer with or without 100 mM NaCl (liquid), or 30 min on a CTX plate with or without 100 mM NaCl, and in the presence or absence of bacteria, 500 mM glycerol, or 3 uL of benzaldehyde.Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
WBPhenotype:0001518Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
RemarkFormaldehyde induced fluorescence is (FIF) absent.Paper_evidenceWBPaper00000365
Curator_confirmedWBPerson712
WBPhenotype:0001716Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0001817Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
RemarkAnimals exhibited weak, but significant, reduced starvation-enhanced gustatory plasticity compared to wild type.Paper_evidenceWBPaper00032335
Curator_confirmedWBPerson712
WBPhenotype:0002284Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002288Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002293Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002295Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002298Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002301Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002308Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002312Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002319Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002323Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002335Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002345Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0004022Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0004023Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0004028Paper_evidenceWBPaper00036154
WBPaper00038270
WBPaper00041132
Curator_confirmedWBPerson712
WBPerson557
RemarkAnimals do not exhibit a basal slowing response in response to food, unlike control animals. Animals failed to slow their body bending rate.Paper_evidenceWBPaper00036154
Curator_confirmedWBPerson712
mutants fail to slow in response to foodPaper_evidenceWBPaper00038270
Curator_confirmedWBPerson712
PenetranceCompletePaper_evidenceWBPaper00038270
Curator_confirmedWBPerson712
Phenotype_not_observed (17)
Disease_infoModels_diseaseDOID:670
DOID:809
DOID:14330
DOID:0050742
Models_disease_in_annotation (4)
Reference (35)
MethodSubstitution_allele