Med14 - SNV Details



 Gene Information 
Gene Name Med14
Old Gene Names for Med14 Ensmusg00000073278 , 9930001l01rik , Au041628 , Crsp2 , Gm641
Gene Description mediator complex subunit 14 [Source:MGI Symbol;Acc:MGI:1349442]
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; transcription coactivator activity; RNA polymerase II transcription cofactor activity; intracellular steroid hormone receptor signaling pathway; androgen receptor signaling pathway; receptor activity; positive regulation of transcription from RNA polymerase II promoter; stem cell maintenance; transcription initiation from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; nucleus; positive regulation of transcription
DNA-dependent; thyroid hormone receptor binding; mediator complex; transcription cofactor activity
Homolog in other species MED14
Omim http://omim.org/entry/300182
Immgen Expression
HIGH(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, TGD GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000064127
Chromosome X
Coordinate 12,745,824     (Assembly: GRCm38)    
Ref Base A
Codon Change gaT/gaA
Var Base T
Zygosity Heterozygous
Read Depth 33
Allele Frequency
A:R0.67
T:V0.33
Amino Acid Position 371
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL02434
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.03
Polyphen Prediction Benign
Sift Score 0.23
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved