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WormBase Tree Display for Variation: WBVar00249724

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Name Class

WBVar00249724NamePublic_nametm694
Other_nameY75B8A.22.2:c.541_1010del
CE23033:p.Ser181GlufsTer9
Y75B8A.22.1:c.541_1010del
HGVSgCHROMOSOME_III:g.12248994_12249463del
Sequence_detailsSMapS_parentSequenceY75B8A
Flanking_sequencesgtctcaatgattcggatcaccatatctctcatcctcgatgcgagttcttcggccttctga
Mapping_targetY75B8A
Source_location7CHROMOSOME_III1224899312249464Inferred_automaticallyNational_Bioresource_Project
Type_of_mutationDeletion
PCR_producttm694_external
tm694_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryFX
AuthorMitani S
DB_infoDatabaseNational_Bioresource_Projectseq694
NBP_allele
StatusLive
AffectsGeneWBGene00006571
TranscriptY75B8A.22.2VEP_consequenceframeshift_variant
VEP_impactHIGH
HGVScY75B8A.22.2:c.541_1010del
HGVSpCE23033:p.Ser181GlufsTer9
cDNA_position551-1020
CDS_position541-1010
Protein_position181-337
Exon_number4/9
Codon_changeAGCAGTCATGATCGTGTGATTATTGCGTTTTTAGAGTCGGGAATCGATAAAACTCTGATGCATATCGCGAATCAGCCGAGAGAAAAAGAGTTCCACGTCACGATTCTCGACATTTTCGCGTTGATCCTGAAAGAGCAGACAGCTGAGGATCTGGCCACCAAGTCTGAAGAAGTTTCGACAGCTGAACAGAAGAAGACCGAGGAGGAATTTCGAAAAATCATCGAAAACCACGTTGTCAAAGAGACTCAGAAGAGAAAGTCGTTCTCGAGATTCGGTGGATCCTACACAATCAAAGGTCTTAAGGGAATCTCGGCGAATTCTAGTCAAGTAGTGTTCAAACCGATTCAAAACGTGGAAAAGCACAATTTTCTGGATGATCGGAAGGCGAAAAAGCGGGCTCCGAGGAATAGAAGACCGTTTGAAATCGACACAAATTCGCATTTCGCGTCGTCTGAAGTTCGTGGGATGCTg/g
Amino_acid_changeSSHDRVIIAFLESGIDKTLMHIANQPREKEFHVTILDIFALILKEQTAEDLATKSEEVSTAEQKKTEEEFRKIIENHVVKETQKRKSFSRFGGSYTIKGLKGISANSSQVVFKPIQNVEKHNFLDDRKAKKRAPRNRRPFEIDTNSHFASSEVRGML/X
Y75B8A.22.1VEP_consequenceframeshift_variant
VEP_impactHIGH
HGVScY75B8A.22.1:c.541_1010del
HGVSpCE23033:p.Ser181GlufsTer9
cDNA_position551-1020
CDS_position541-1010
Protein_position181-337
Exon_number4/9
Codon_changeAGCAGTCATGATCGTGTGATTATTGCGTTTTTAGAGTCGGGAATCGATAAAACTCTGATGCATATCGCGAATCAGCCGAGAGAAAAAGAGTTCCACGTCACGATTCTCGACATTTTCGCGTTGATCCTGAAAGAGCAGACAGCTGAGGATCTGGCCACCAAGTCTGAAGAAGTTTCGACAGCTGAACAGAAGAAGACCGAGGAGGAATTTCGAAAAATCATCGAAAACCACGTTGTCAAAGAGACTCAGAAGAGAAAGTCGTTCTCGAGATTCGGTGGATCCTACACAATCAAAGGTCTTAAGGGAATCTCGGCGAATTCTAGTCAAGTAGTGTTCAAACCGATTCAAAACGTGGAAAAGCACAATTTTCTGGATGATCGGAAGGCGAAAAAGCGGGCTCCGAGGAATAGAAGACCGTTTGAAATCGACACAAATTCGCATTTCGCGTCGTCTGAAGTTCGTGGGATGCTg/g
Amino_acid_changeSSHDRVIIAFLESGIDKTLMHIANQPREKEFHVTILDIFALILKEQTAEDLATKSEEVSTAEQKKTEEEFRKIIENHVVKETQKRKSFSRFGGSYTIKGLKGISANSSQVVFKPIQNVEKHNFLDDRKAKKRAPRNRRPFEIDTNSHFASSEVRGML/X
IsolationMutagenTMP/UV
GeneticsMapIII
DescriptionPhenotypeWBPhenotype:0000052Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
RemarkComment from Dr. B.J. Meyer to the National Bioresource Project of Japan: maternal effect lethal.Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
WBPhenotype:0000059Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
RemarkComment from Dr. B.J. Meyer to the National Bioresource Project of Japan: maternal effect lethal. Most maternally rescued animals arrest during larval development.Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
PenetranceHighPerson_evidenceWBPerson7743
Curator_confirmedWBPerson48
WBPhenotype:0000062Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
RemarkClassified as lethal OR sterile by the National Bioresource Project of Japan.Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
WBPhenotype:0000674Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
RemarkComment from Dr. B.J. Meyer to the National Bioresource Project of Japan: maternal effect lethal. Maternally rescued animals show retarded development.Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
WBPhenotype:0000688Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
RemarkClassified as lethal OR sterile by the National Bioresource Project of Japan.Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
Comment from Dr. B.J. Meyer to the National Bioresource Project of Japan: maternal effect lethal. Maternally rescued animals show sterility.Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
Phenotype_not_observedWBPhenotype:0001257Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
RemarkComment from Dr. S. Boulton to the National Bioresource Project of Japan: not required for FCD-2 focus formation after CDDP.Person_evidenceWBPerson7743
Curator_confirmedWBPerson48
Remark179889/179890-180359/180360 (470 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