| Primary Identifier | MGI:1098791 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 211006 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables tRNA binding activity. Involved in selenocysteine incorporation. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; cerebral cortex; genitourinary system; musculoskeletal system; and respiratory system. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 2D. Orthologous to human SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase). PHENOTYPE: Mice homozygous for a missense mutation exhibit perinatal lethality, low birth weight, cyanosis, cardio-respiratory failure, and absent milk spots. Mice homozygous for a knock-out allele show embryonic growth retardation, small egg cylinders, disorganized extraembryonic tissue, failure of primitive streak formation and gastrulation, and complete embryonic lethality by E9.5. [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
