Myocd - SNV Details



 Gene Information 
Gene Name Myocd
Old Gene Names for Myocd Srfcp
Gene Description myocardin [Source:MGI Symbol;Acc:MGI:2137495]
MGI phenotype Mice homozygous for a null mutation exhibit embryonic lethality and fail to form vascular smooth muscle.
Uniprot Name
CCDS Name
Gene GO
transcription coactivator activity; hepatic stellate cell activation; positive regulation of cardiac muscle cell differentiation; positive regulation of sequence-specific DNA binding transcription factor activity; transcription from RNA polymerase II promoter; muscle cell differentiation; positive regulation of transcription from RNA polymerase II promoter; cellular component maintenance at cellular level; regulation of histone acetylation; urinary bladder development; ventricular cardiac muscle cell differentiation; vasculogenesis; positive regulation of smooth muscle contraction; positive regulation of DNA binding; regulation of smooth muscle cell differentiation; protein homodimerization activity; cell growth involved in cardiac muscle cell development; negative regulation of cardiac muscle cell apoptotic process; response to hypoxia; regulation of transcription from RNA polymerase II promoter; negative regulation of cyclin-dependent protein kinase activity; regulation of cell growth by extracellular stimulus; protein binding; negative regulation of cell proliferation; positive regulation of transforming growth factor beta receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation; nuclear speck; histone acetyltransferase binding; positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation; regulation of myoblast differentiation; nucleus; cardiac muscle cell differentiation; smooth muscle cell differentiation; lung alveolus development; cellular response to hypoxia; positive regulation of transcription
DNA-dependent; protein domain specific binding; digestive tract development; negative regulation of skeletal muscle cell differentiation; histone deacetylase binding; cellular response to growth factor stimulus; core promoter sequence-specific DNA binding; negative regulation of beta-amyloid clearance; negative regulation of transcription from RNA polymerase II promoter; ductus arteriosus closure; nucleic acid binding; R-SMAD binding; SRF-myogenin-E12 complex; uterus development; positive regulation of cardiac vascular smooth muscle cell differentiation; heart development; negative regulation of myotube differentiation; transcription factor binding; positive regulation of smooth muscle cell differentiation; RNA polymerase II transcription factor binding transcription factor activity; positive regulation of cell proliferation; cardiac ventricle development
Homolog in other species MYOCD
Omim http://omim.org/entry/606127
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020542
Chromosome 11
Coordinate 65,200,807     (Assembly: GRCm38)    
Ref Base T
Codon Change cAc/cTc
Var Base A
Zygosity Heterozygous
Read Depth 33
Allele Frequency
T:R0.55
A:V0.42
Amino Acid Position 231
Amino Acid Change H->L (Histidine -> Leucine)
Sample ID IGL01570
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.14
Polyphen Prediction Benign
Sift Score 0.61
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved