|Institutional Source||Beutler Lab|
|Gene Name||myosin, light polypeptide kinase|
|Synonyms||Mlck, nmMlck, telokin, A930019C19Rik, 9530072E15Rik, MLCK108, MLCK210|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0547 (G1)|
|Chromosomal Location||34745210-35002420 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to C at 34879475 bp|
|Amino Acid Change||Glutamic Acid to Glutamine at position 403 (E403Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023538 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023538]|
|Predicted Effect||possibly damaging
AA Change: E403Q
PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: E403Q
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.054|
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that lack the isoform abundant in endothelial cells show a reduced susceptibility to acute lung injury. Mice lacking the smooth muscle isoform exhibit partial pre- or neonatal lethality, short small intestine and impaired smooth muscle contraction in the colon. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mylk||
(F):5'- TGTGTGAGGATGCTCCCAGAAAGG -3'
(R):5'- TGCATACATACGGGAGGTGCAGAC -3'
(F):5'- AAAGGTCCCGCAGTCCTC -3'
(R):5'- GGAGGTGCAGACTGGTG -3'