Smyd1 - SNV Details



 Gene Information 
Gene Name Smyd1
Old Gene Names for Smyd1 C78565 , 4632404m21rik , Bop
Gene Description SET and MYND domain containing 1 [Source:MGI Symbol;Acc:MGI:104790]
MGI phenotype Homozygous mutation of this gene results in embryonic lethality at E10.5. Mutant embryos exhibit an enlarged heart and developmental abnormalities of the right ventricle.
Uniprot Name
CCDS Name
Gene GO
negative regulation of transcription
DNA-templated; cytoplasm; metal ion binding; histone-lysine N-methyltransferase activity; skeletal muscle cell differentiation; transcription corepressor activity; DNA binding; protein binding; positive regulation of myotube differentiation; nucleus; histone lysine methylation; heart development; chromatin remodeling; transcription
DNA-templated; positive regulation of myoblast differentiation
Homolog in other species SMYD1
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGH IN RETINA, SPINALCORDLOWER, SPINALCORDUPPER, C2C12, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G2, TRACHEA, PROSTATE)
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000055027
Chromosome 6
Coordinate 71,238,630     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 20
Allele Frequency
A:R0.55
G:V0.45
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02901
Median Base Quality 35.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved