| Primary Identifier | MGI:2144117 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 103677 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including DNA polymerase binding activity; RNA endonuclease activity; and nucleic acid binding activity. Predicted to be involved in negative regulation of telomere capping and nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Predicted to be located in cytosol and nucleolus. Predicted to be part of exon-exon junction complex and telomerase holoenzyme complex. Is expressed in 1-cell stage embryo; 4-cell stage embryo; compacted morula; and cortical plate. Orthologous to human SMG6 (SMG6 nonsense mediated mRNA decay factor). PHENOTYPE: Homozygosity for insertion of a transgene into intron 6 of the gene results in embryonic lethality. Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for a conditional allele activated in embryonic stem cells exhibit defective telomere maintenance and NMD. Homozygosity for the p.D1352A and p.D1391A mutations in hepatocytes affects the circadian rhythm. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
