|Institutional Source||Beutler Lab|
|Gene Name||myosin, heavy polypeptide 11, smooth muscle|
|Synonyms||smMHC, SM1, SM2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||PIT4618001 (G1)|
|Chromosomal Location||14194535-14291372 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 14201066 bp (GRCm38)|
|Amino Acid Change||Alanine to Valine at position 1839 (A1839V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000087756 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000090287] [ENSMUST00000230397] [ENSMUST00000231567]|
|AlphaFold||no structure available at present|
AA Change: A1839V
AA Change: A1839V
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: A1846V
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have impaired smooth muscle contractility. They are incapable of urinating, exhibit dilative cardiomyopathy, are growth retarded, and die within 3 days of birth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Myh11||
(F):5'- TGTGTCAGCAAAGGTCAGC -3'
(R):5'- CGGAGTGGCTTATGCTGAAC -3'
(F):5'- CGTAAGGGGTCATGAAGCACC -3'
(R):5'- TCACAAAGGTTCTACAACTGTGC -3'