Mastl - SNV Details



 Human Rare Diseases 
Autosomal thrombocytopenia with normal platelets

 Gene Information 
Gene Name Mastl
Old Gene Names for Mastl 2700091h24rik , C88295
Gene Description microtubule associated serine/threonine kinase-like [Source:MGI Symbol;Acc:MGI:1914371]
Uniprot Name
CCDS Name
Gene GO
cleavage furrow; cell division; protein kinase activity; regulation of cell cycle; mitosis; kinase activity; transferase activity
transferring phosphorus-containing groups; negative regulation of protein phosphatase type 2A activity; nucleus; protein phosphorylation; response to DNA damage stimulus; G2/M transition of mitotic cell cycle; protein tyrosine kinase activity; ATP binding; protein phosphatase 2A binding; protein serine/threonine kinase activity; centrosome
Homolog in other species MASTL
Omim http://omim.org/entry/608221
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, TGD.VG5+.ACT.IEL, NK.MCMV1.SP, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, T.4SP24-.TH, T.8SP24-.TH, DC.LC.SK)
Gnf Expression
LOW/MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026779
Chromosome 2
Coordinate 23,139,998     (Assembly: GRCm38)    
Ref Base A
Codon Change Tct/Cct
Var Base G
Zygosity Heterozygous
Read Depth 20
Allele Frequency
A:R0.55
G:V0.45
Amino Acid Position 239
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02103
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.02
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved