|Institutional Source||Beutler Lab|
|Gene Name||tRNA splicing endonuclease subunit 2|
|Is this an essential gene?||Probably essential (E-score: 0.948)|
|Stock #||RF042 (G1)|
|Chromosomal Location||115544664-115578628 bp(+) (GRCm38)|
|Type of Mutation||small insertion (1 aa in frame mutation)|
|DNA Base Change (assembly)||GGA to GGATGA at 115560067 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000038211 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040234]|
|Predicted Effect||probably benign
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tsen2||
(F):5'- TGGACAGTCAGATGACCTACCC -3'
(R):5'- TCCTAACACTGCAATGAGAGC -3'
(F):5'- GTCTCGGCACACACTCAG -3'
(R):5'- GCAATAAGGAATGTGGGCTCTC -3'