|Institutional Source||Beutler Lab|
|Gene Name||myosin, light chain 12B, regulatory|
|Synonyms||Mylc2b, RLC-B, 1500001M02Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.201)|
|Stock #||R6904 (G1)|
|Chromosomal Location||70973920-70990787 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 70977140 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 31 (I31N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042364 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038446]|
|Predicted Effect||probably damaging
AA Change: I31N
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: I31N
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Myl12b||
(F):5'- TTTCATAGGTACCTCAGAACAAGG -3'
(R):5'- TGGGCAGACTTACTCTTCCC -3'
(F):5'- GTACCTCAGAACAAGGGTTAAATC -3'
(R):5'- GTTAGGCAATGAGACCCCTG -3'