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WormBase Tree Display for Variation: WBVar00249611

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Name Class

WBVar00249611NamePublic_nametm574
Other_nameCE29521:p.Gly37LysfsTer10
T07G12.10.1:c.109_523del
T07G12.10.3:c.109_523del
T07G12.10.2:c.109_523del
HGVSgCHROMOSOME_IV:g.10555819_10556233del
Sequence_detailsSMapS_parentSequenceT07G12
Flanking_sequencesttccaaagtacatattttcagaacaatgtcaaaatggtttggatcgaaagtttacaatgaacatgacagaaagaatttccgaaattgattcgaattatct
Mapping_targetT07G12
Source_location7CHROMOSOME_IV1055581810556234Inferred_automaticallyNational_Bioresource_Project
Type_of_mutationDeletion
PCR_producttm574_external
tm574_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004045
LaboratoryFX
AuthorMitani S
DB_infoDatabaseNational_Bioresource_Projectseq574
NBP_allele
StatusLive
AffectsGeneWBGene00305591
WBGene00011600
TranscriptT07G12.20
T07G12.10.1VEP_consequenceframeshift_variant
VEP_impactHIGH
HGVScT07G12.10.1:c.109_523del
HGVSpCE29521:p.Gly37LysfsTer10
cDNA_position109-523
CDS_position109-523
Protein_position37-175
Exon_number2/8
Codon_changeGGCTGCTCCAAGCTTTGGATTGTGGAGGGATCCGTGTGCACCAGCTCAACTCCTGAAAGCTCTACATATTCTGAAAAACGTACAATCGAACCAGTTGTTTCACTAAGTACAACTCTGGCCACTAACAAGCTTCCTCGATTTTCAACTCCTGCTGTCGGCCATTCAAAATATAATTCTGCAAAAAATTTCACATTGAATTTGGCTGAGAAGCTATCGGAGATTCTATCGGATGACGATAAAACTGATAAATGCCTGGAGAACTCTTATCAATCCGAAACTTCCAGGGAAGACGTGATTCAGGATTTGCTCGAAGAAATGGTACAAACTGTTGCCGATGTTGATCAAGCTCCGATTCTTTTGAGCACAACTCTCGCAAATATTGGTGTTCCCCGCTTTTCAACTCCCATCAAACCACaa/aa
Amino_acid_changeGCSKLWIVEGSVCTSSTPESSTYSEKRTIEPVVSLSTTLATNKLPRFSTPAVGHSKYNSAKNFTLNLAEKLSEILSDDDKTDKCLENSYQSETSREDVIQDLLEEMVQTVADVDQAPILLSTTLANIGVPRFSTPIKPQ/X
T07G12.10.3VEP_consequenceframeshift_variant
VEP_impactHIGH
HGVScT07G12.10.3:c.109_523del
HGVSpCE29521:p.Gly37LysfsTer10
cDNA_position511-925
CDS_position109-523
Protein_position37-175
Exon_number3/10
Codon_changeGGCTGCTCCAAGCTTTGGATTGTGGAGGGATCCGTGTGCACCAGCTCAACTCCTGAAAGCTCTACATATTCTGAAAAACGTACAATCGAACCAGTTGTTTCACTAAGTACAACTCTGGCCACTAACAAGCTTCCTCGATTTTCAACTCCTGCTGTCGGCCATTCAAAATATAATTCTGCAAAAAATTTCACATTGAATTTGGCTGAGAAGCTATCGGAGATTCTATCGGATGACGATAAAACTGATAAATGCCTGGAGAACTCTTATCAATCCGAAACTTCCAGGGAAGACGTGATTCAGGATTTGCTCGAAGAAATGGTACAAACTGTTGCCGATGTTGATCAAGCTCCGATTCTTTTGAGCACAACTCTCGCAAATATTGGTGTTCCCCGCTTTTCAACTCCCATCAAACCACaa/aa
Amino_acid_changeGCSKLWIVEGSVCTSSTPESSTYSEKRTIEPVVSLSTTLATNKLPRFSTPAVGHSKYNSAKNFTLNLAEKLSEILSDDDKTDKCLENSYQSETSREDVIQDLLEEMVQTVADVDQAPILLSTTLANIGVPRFSTPIKPQ/X
T07G12.10.2VEP_consequenceframeshift_variant
VEP_impactHIGH
HGVScT07G12.10.2:c.109_523del
HGVSpCE29521:p.Gly37LysfsTer10
cDNA_position109-523
CDS_position109-523
Protein_position37-175
Exon_number2/9
Codon_changeGGCTGCTCCAAGCTTTGGATTGTGGAGGGATCCGTGTGCACCAGCTCAACTCCTGAAAGCTCTACATATTCTGAAAAACGTACAATCGAACCAGTTGTTTCACTAAGTACAACTCTGGCCACTAACAAGCTTCCTCGATTTTCAACTCCTGCTGTCGGCCATTCAAAATATAATTCTGCAAAAAATTTCACATTGAATTTGGCTGAGAAGCTATCGGAGATTCTATCGGATGACGATAAAACTGATAAATGCCTGGAGAACTCTTATCAATCCGAAACTTCCAGGGAAGACGTGATTCAGGATTTGCTCGAAGAAATGGTACAAACTGTTGCCGATGTTGATCAAGCTCCGATTCTTTTGAGCACAACTCTCGCAAATATTGGTGTTCCCCGCTTTTCAACTCCCATCAAACCACaa/aa
Amino_acid_changeGCSKLWIVEGSVCTSSTPESSTYSEKRTIEPVVSLSTTLATNKLPRFSTPAVGHSKYNSAKNFTLNLAEKLSEILSDDDKTDKCLENSYQSETSREDVIQDLLEEMVQTVADVDQAPILLSTTLANIGVPRFSTPIKPQ/X
IsolationMutagenTMP/UV
GeneticsMapIV
Mapping_dataIn_multi_point5415
DescriptionPhenotypeWBPhenotype:0000050Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
RemarkComment from Dr. A. Dernburg to the National Bioresource Project of Japan: 32% inviable embryos due to autosomal nondisjunction during meiosis.Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
PenetranceIncompletePerson_evidenceWBPerson7743
Curator_confirmedWBPerson48
Range3232Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
WBPhenotype:0000206Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
RemarkComment from Dr. A. Dernburg to the National Bioresource Project of Japan: 32% inviable embryos due to autosomal nondisjunction during meiosis. These are due to specific failure of chromosome V to pair and synapsis during meiosis.Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
WBPhenotype:0001175Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
RemarkComment from Dr. A. Dernburg to the National Bioresource Project of Japan: weak Him (1.3%).Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
PenetranceLowPerson_evidenceWBPerson7743
Curator_confirmedWBPerson48
Range11Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
WBPhenotype:0001348Paper_evidenceWBPaper00035521
Curator_confirmedWBPerson712
RemarkIn zim-2 XX hermaphrodite germ lines, H3dimethylK9 as modestly enriched on two chromosomes, which presumably represent the unpaired Vs, in pachytene, and was redistributed throughout the nucleus in late pachytene-diplotene.Paper_evidenceWBPaper00035521
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000062Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
ReferenceWBPaper00035521
Remark27386/27387-27801/27802 (415 bp deletion)
This knockout was generated by the National Bioresource Project, Tokyo, Japan, which is part of the International C. elegans Gene Knockout Consortium, which should be acknowledged in any publications resulting from its use.Paper_evidenceWBPaper00041807
MethodNBP_knockout_allele