| Primary Identifier | MGI:2146565 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 106338 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable tRNA (cytidine-5-)-methyltransferase activity. Predicted to be involved in rRNA methylation; regulation of mitochondrial translation; and tRNA wobble base cytosine methylation. Predicted to be located in mitochondrial matrix. Predicted to be part of mitochondrial large ribosomal subunit. Is expressed in several structures, including branchial arch; central nervous system; extraembryonic component; neural ectoderm; and sensory organ. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 48. Orthologous to human NSUN3 (NOP2/Sun RNA methyltransferase 3). PHENOTYPE: Homozygous null mice exhibit embryonic lethality between E10.5 and E12.5 and embryos are small. Heart-specific knock-out mice exhibit mild heart enlargement and mild increase in heart contraction with age and cardiac mitochondrial abnormalities. [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
