Med1 - SNV Details



 Gene Information 
Gene Name Med1
Old Gene Names for Med1 Pparbp , Ai480703
Gene Description mediator complex subunit 1 [Source:MGI Symbol;Acc:MGI:1100846]
MGI phenotype Homozygotes for targeted null mutations have defects of placental vasculature, heart, and lens, arrested erythrocytic differentiation, impaired neuronal development, and die by embryonic day 11.5.
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; mRNA transcription from RNA polymerase II promoter; positive regulation of transcription
DNA-templated; positive regulation of hepatocyte proliferation; transcription coactivator activity; nuclear hormone receptor binding; retinal pigment epithelium development; RNA polymerase II transcription cofactor activity; transcription from RNA polymerase II promoter; chromatin binding; positive regulation of intracellular estrogen receptor signaling pathway; cellular response to thyroid hormone stimulus; membrane; mediator complex binding; intracellular steroid hormone receptor signaling pathway; thyroid hormone mediated signaling pathway; embryonic heart tube development; regulation of transcription
DNA-templated; enucleate erythrocyte development; positive regulation of receptor activity; embryonic hemopoiesis; negative regulation of neuron differentiation; androgen receptor signaling pathway; receptor activity; lens development in camera-type eye; organ morphogenesis; positive regulation of interferon-gamma-mediated signaling pathway; megakaryocyte development; positive regulation of transcription from RNA polymerase II promoter; mammary gland branching involved in thelarche; core promoter binding; negative regulation of apoptotic process; protein-DNA complex; regulation of transcription from RNA polymerase I promoter; liver development; LBD domain binding; keratinocyte differentiation; cell morphogenesis; regulation of RNA biosynthetic process; monocyte differentiation; negative regulation of keratinocyte proliferation; RNA polymerase II core promoter proximal region sequence-specific DNA binding; sequence-specific DNA binding RNA polymerase II transcription factor activity; DNA binding; positive regulation of keratinocyte differentiation; cellular response to hepatocyte growth factor stimulus; ventricular trabecula myocardium morphogenesis; transcription initiation from RNA polymerase II promoter; angiogenesis; regulation of transcription from RNA polymerase II promoter; ERK1 and ERK2 cascade; regulation of vitamin D receptor signaling pathway; positive regulation of G0 to G1 transition; protein binding; fat cell differentiation; erythrocyte development; positive regulation of protein import into nucleus
translocation; nucleus; epithelial cell proliferation involved in mammary gland duct elongation; in utero embryonic development; vitamin D receptor binding; cellular response to epidermal growth factor stimulus; mammary gland epithelial cell proliferation; estrogen receptor binding; chromatin; embryonic placenta development; thyroid hormone receptor coactivator activity; peroxisome proliferator activated receptor signaling pathway; ligand-dependent nuclear receptor binding; negative regulation of transcription from RNA polymerase II promoter; thyroid hormone receptor binding; protein complex binding; ligand-dependent nuclear receptor transcription coactivator activity; mediator complex; embryonic hindlimb morphogenesis; chromatin DNA binding; thyroid hormone generation; nucleolus; organ regeneration; heart development; transcription factor binding; camera-type eye development; mammary gland branching involved in pregnancy; cellular response to steroid hormone stimulus; positive regulation of cell proliferation; retinoic acid receptor binding; multicellular organismal development; positive regulation of mammary gland epithelial cell proliferation; positive regulation of gene expression; transcription cofactor activity; brain development; peroxisome proliferator activated receptor binding; androgen biosynthetic process; lactation
Homolog in other species MED1
Omim http://omim.org/entry/604311
Immgen Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000018160
Chromosome 11
Coordinate 98,189,183     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 38
Allele Frequency
A:R0.42
T:V0.58
Amino Acid Change M->K (Methionine -> Lysine)
Sample ID IGL03410
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown

 Availability Details 
Availability Cryopreserved