|Institutional Source||Beutler Lab|
|Gene Name||U2AF homology motif (UHM) kinase 1|
|Synonyms||C820018A03Rik, Kist, OTTMUSG00000021542, KIS|
|Essential gene?||Probably essential (E-score: 0.811)|
|Stock #||R1584 (G1)|
|Chromosomal Location||170193420-170215397 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to T at 170208653 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000115622 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027979] [ENSMUST00000123399] [ENSMUST00000150821]|
|Meta Mutation Damage Score||0.9496|
|Coding Region Coverage||
|Validation Efficiency||99% (106/107)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice with disruptions in this gene show accelerated development of neointima after arterial injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Uhmk1||
(F):5'- AGCAGCATAAAGACATGTGCCATCC -3'
(R):5'- TGCGTAGTAAATGCAAGCTCAGTCG -3'
(F):5'- gccttgaactcacagagatcc -3'
(R):5'- TGCAAGCTCAGTCGAGTAAC -3'