Prdm16 - SNV Details



 Gene Information 
Gene Name Prdm16
Old Gene Names for Prdm16 5730557k01rik
Gene Description PR domain containing 16 [Source:MGI Symbol;Acc:MGI:1917923]
MGI phenotype Mutant mice exhibit a cleft secondary palate.
Uniprot Name
CCDS Name
Gene GO
negative regulation of transforming growth factor beta receptor signaling pathway; sequence-specific DNA binding; negative regulation of transcription
DNA-dependent; transcription coactivator activity; transcription
DNA-dependent; neurogenesis; intracellular; zinc ion binding; DNA binding; regulation of cellular respiration; protein binding; transcriptional repressor complex; brown fat cell differentiation; palate development; nucleus; white fat cell differentiation; positive regulation of transcription
DNA-dependent; SMAD binding; negative regulation of transcription from RNA polymerase II promoter; nucleic acid binding; negative regulation of granulocyte differentiation; somatic stem cell maintenance; tongue development
Homolog in other species PRDM16
Omim http://omim.org/entry/605557
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039410
Chromosome 4
Coordinate 154,328,287     (Assembly: GRCm38)    
Ref Base T
Codon Change aAc/aGc
Var Base C
Zygosity Heterozygous
Read Depth 16
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Position 1087
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL02260
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.2
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved