Myh8 - SNV Details



 Human Rare Diseases 
Carney complex-trismus-pseudocamptodactyly syndrome
Trismus - pseudocamptodactyly

 Gene Information 
Gene Name Myh8
Old Gene Names for Myh8 Myhsp , 4832426g23rik , Ai327267 , Myhs-p
Gene Description myosin, heavy polypeptide 8, skeletal muscle, perinatal [Source:MGI Symbol;Acc:MGI:1339712]
Uniprot Name
CCDS Name
Gene GO
myosin filament; motor activity; myosin complex; protein binding; nucleus; nucleotide binding; ATP binding; myofibril; actin binding; nucleolus; focal adhesion
Homolog in other species MYH8
Omim http://omim.org/entry/160741
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN
LOW/MEDIAN(HIGH IN C2C12, M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000055775
Chromosome 11
Coordinate 67,303,826     (Assembly: GRCm38)    
Ref Base T
Codon Change aTg/aCg
Var Base C
Zygosity Heterozygous
Read Depth 13
Allele Frequency
T:R0.69
C:V0.31
Amino Acid Position 1621
Amino Acid Change M->T (Methionine -> Threonine)
Sample ID IGL01828
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 21 Other Mutations

 Predictions 
Polyphen Score 0.66
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000019625:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Myosin tail Myosin_tail IPR002928 ENSMUSP00000019625 Pfam 1071
1928 Description available Search pathways

 Availability Details 
Availability Cryopreserved