|Institutional Source||Beutler Lab|
|Gene Name||RIO kinase 3|
|Synonyms||Sudd, 1200013N13Rik, E130306C24Rik, D18Ertd331e|
|Is this an essential gene?||Possibly non essential (E-score: 0.318)|
|Stock #||R4945 (G1)|
|Chromosomal Location||12128850-12157367 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 12128915 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 2 (D2G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025270 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025270]|
|Predicted Effect||probably damaging
AA Change: D2G
PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: D2G
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was first identified by the similarity of its product to the Aspergillus nidulans SUDD protein. This gene is now recognized as a member of the right open reading frame (RIO) kinase gene family. This gene encodes a serine/threonine kinase that localizes to the cytoplasm and plays a role in the processing of the pre-40 S ribosomal subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Riok3||
(F):5'- TCCTTAGTATACAGGGCGGAAAAG -3'
(R):5'- GACAAAGCGCAGATCCAGTC -3'
(F):5'- AAGAAGTGGTCCAGTTCCGGC -3'
(R):5'- AGATCCAGTCGGACCCC -3'