WormBase Tree Display for Variation: WBVar00250711
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WBVar00250711 | Name | Public_name | tm1746 | ||||||
---|---|---|---|---|---|---|---|---|---|
Other_name | B0414.5.1:c.435_1002del | ||||||||
CE41548:p.Ser146AspfsTer12 | |||||||||
HGVSg | CHROMOSOME_I:g.5790675_5791242del | ||||||||
Sequence_details | SMap | S_parent | Sequence | B0414 | |||||
Flanking_sequences | cccatttgacggagccaaatttgattgtcc | ttctttgtagttcttgaagatccaaaaata | |||||||
Mapping_target | B0414 | ||||||||
Source_location | 7 | CHROMOSOME_I | 5790674 | 5791243 | Inferred_automatically | National_Bioresource_Project | |||
Type_of_mutation | Deletion | ||||||||
PCR_product | tm1746_external | ||||||||
tm1746_internal | |||||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | FX | ||||||||
Author | Mitani S | ||||||||
DB_info | Database | National_Bioresource_Project | seq | 1746 | |||||
NBP_allele | |||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00000772 | |||||||
Transcript | B0414.5.1 | VEP_consequence | frameshift_variant | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | B0414.5.1:c.435_1002del | ||||||||
HGVSp | CE41548:p.Ser146AspfsTer12 | ||||||||
cDNA_position | 464-1031 | ||||||||
CDS_position | 435-1002 | ||||||||
Protein_position | 145-334 | ||||||||
Exon_number | 3/8 | ||||||||
Codon_change | aaGTCTATCGACTCGGAAAGAAATTCACAGCGTAAGAAATCTGCTCGGCGACTAAATTTCGAGAGAGACGCAGAGCAAAAGAAGGATTCAACAAAAACAAATAATAGTTCATTCGTTGCTGAAATGACTAGAGAATATGAGAAGATAGTTATCTCGAAGGGTGCTCCCGTTCCAATCAATAAGGCAAATCGGAATCTCTACCGTAATCCTCGTGGTTCCCTTGAGACTCCTACAGATTCTCCGCAAAAAGGCTTCAGCAGTTCAACCGAATCGTCTCCTTCTGACAGTATGAATCAGTTTCCATCTCGAGAGCACTTCACATCTGCAAATGAGGAATCTCCGATGAAAAGAAAAAACTTCCAACAAGAACATGGAAATAAAAACCGTGATAGCGACGCAACTTGGTTTGGAGAGCTTCCGCCCAGAGATTATACAAGTCCAACATTCTCACGGAAGATATTTGTTGGAGGAGTTCCATGGGATATCACTGAGGCAGCTTTAAAAGATTCATTTGGAGAATTTGGTTCGTGTGCAGTTGAATGGCCTGGACAAGAAGCACGTTATCGCAGT/aa | ||||||||
Amino_acid_change | KSIDSERNSQRKKSARRLNFERDAEQKKDSTKTNNSSFVAEMTREYEKIVISKGAPVPINKANRNLYRNPRGSLETPTDSPQKGFSSSTESSPSDSMNQFPSREHFTSANEESPMKRKNFQQEHGNKNRDSDATWFGELPPRDYTSPTFSRKIFVGGVPWDITEAALKDSFGEFGSCAVEWPGQEARYRS/X | ||||||||
Isolation | Mutagen | TMP/UV | |||||||
Genetics | Map | I | |||||||
Mapping_data | In_multi_point | 5090 | |||||||
Description | Phenotype | WBPhenotype:0000154 | Paper_evidence | WBPaper00027619 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Reduced brood size especially at high temperature | Paper_evidence | WBPaper00027619 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00027619 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Temperature | 20C, 25C | Paper_evidence | WBPaper00027619 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000183 | Person_evidence | WBPerson7743 | |||||||
Curator_confirmed | WBPerson48 | ||||||||
Remark | Comment to the National Bioresource Project of Japan: Dr. M. Hengartner, Dr. D. Greenstein: increased germ cell apoptosis. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
Laboratory_evidence | WS | ||||||||
DG | |||||||||
EQ_annotations | Anatomy_term | WBbt:0006796 | PATO:0000460 | Person_evidence | WBPerson7743 | ||||
Curator_confirmed | WBPerson48 | ||||||||
Phenotype_not_observed | WBPhenotype:0000062 | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
Remark | Comment from Dr. J. Kimble to the National Bioresource Project of Japan: homozygotes are viable. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
Laboratory_evidence | JK | ||||||||
FX | |||||||||
WBPhenotype:0000688 | Person_evidence | WBPerson7743 | |||||||
Curator_confirmed | WBPerson48 | ||||||||
Remark | Comment from Dr. J. Kimble to the National Bioresource Project of Japan: homozygotes are fertile. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
Laboratory_evidence | JK | ||||||||
Reference | WBPaper00027619 | ||||||||
Remark | 19085/19086-19653/19654 (568 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_evidence | WBPaper00041807 | |||||||
Method | NBP_knockout_allele |