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WormBase Tree Display for Variation: WBVar00145227

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Name Class

WBVar00145227EvidencePaper_evidenceWBPaper00001105
NamePublic_nameev424
Other_nameC01G10.11c.1:c.59_60dup
CE39211:p.Asp112SerfsTer21
CE39210:p.Asp112SerfsTer21
C01G10.11f.1:c.332_333dup
CE45264:p.Asp21SerfsTer21
C01G10.11b.1:c.332_333dup
C01G10.11a.1:c.332_333dup
CE45243:p.Asp112SerfsTer21
HGVSgCHROMOSOME_V:g.15074825_15074826dup
Sequence_detailsSMapS_parentSequenceC01G10
Flanking_sequencesaccggaaactttggaaacattcaacctctcgactttggaacctcttcgatatgtaaaaag
Mapping_targetC01G10
Type_of_mutationInsertiontcPaper_evidenceWBPaper00002751
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00029116
LaboratoryNW
StatusLive
AffectsGeneWBGene00305248
WBGene00006808
WBGene00305285
WBGene00305247
TranscriptC01G10.21
C01G10.11f.1VEP_consequenceframeshift_variant
VEP_impactHIGH
HGVScC01G10.11f.1:c.332_333dup
HGVSpCE45243:p.Asp112SerfsTer21
cDNA_position457-458
CDS_position333-334
Protein_position111-112
Exon_number5/12
Codon_change-/TC
Amino_acid_change-/X
C01G10.11b.1VEP_consequenceframeshift_variant
VEP_impactHIGH
HGVScC01G10.11b.1:c.332_333dup
HGVSpCE39211:p.Asp112SerfsTer21
cDNA_position344-345
CDS_position333-334
Protein_position111-112
Exon_number5/10
Codon_change-/TC
Amino_acid_change-/X
C01G10.11a.1VEP_consequenceframeshift_variant
VEP_impactHIGH
HGVScC01G10.11a.1:c.332_333dup
HGVSpCE39210:p.Asp112SerfsTer21
cDNA_position341-342
CDS_position333-334
Protein_position111-112
Exon_number5/11
Codon_change-/TC
Amino_acid_change-/X
C25D7.19
C01G10.20
C01G10.11c.1VEP_consequenceframeshift_variant
VEP_impactHIGH
HGVScC01G10.11c.1:c.59_60dup
HGVSpCE45264:p.Asp21SerfsTer21
cDNA_position60-61
CDS_position60-61
Protein_position20-21
Exon_number2/7
Codon_change-/TC
Amino_acid_change-/X
GeneticsInterpolated_map_positionV7.31636
DescriptionPhenotypeWBPhenotype:0000181Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
RemarkHSN axons are posteriorly misdirected and never reach the nerve ringPaper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
PenetranceLowPaper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Range11Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBPhenotype:0000643Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBPhenotype:0001224Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
RemarkHSN axons show ventral blocks (failure to extend ventrally from their cell bodies to the ventral cord) and anterior blocks (axons enter the ventral cord normally but fail to complete the anterior growth towards the nerve ring)Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
PenetranceIncomplete7 percent of mutants have ventral blocks and 92 percent have anterior blocksPaper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
ReferenceWBPaper00001105
WBPaper00002751
MethodInsertion_allele