Med12l - SNV Details



 Gene Information 
Gene Name Med12l
Old Gene Names for Med12l Au044581
Gene Description mediator of RNA polymerase II transcription, subunit 12 homolog (yeast)-like [Source:MGI Symbol;Acc:MGI:2139916]
Uniprot Name
CCDS Name
Gene GO
RNA polymerase II transcription cofactor activity; beta-catenin binding; regulation of transcription from RNA polymerase II promoter; mediator complex; biological_process; molecular_function
Homolog in other species MED12L
Omim http://omim.org/entry/611318
Immgen Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000056476
Chromosome 3
Coordinate 59,077,089     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 27
Allele Frequency
G:R0.41
T:V0.59
Amino Acid Change D->Y (Aspartic acid -> Tyrosine)
Sample ID IGL02530
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved