|Institutional Source||Beutler Lab|
|Gene Name||mediator complex subunit 13|
|Synonyms||Thrap1, 1110067M05Rik, Trap240|
|Essential gene?||Probably essential (E-score: 0.951)|
|Stock #||R6528 (G1)|
|Chromosomal Location||86267033-86357602 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 86298954 bp (GRCm38)|
|Amino Acid Change||Proline to Leucine at position 1043 (P1043L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044268 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043624]|
AA Change: P1043L
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: P1043L
|Meta Mutation Damage Score||0.1985|
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele exhibited in the heart exhibit increased susceptibility to obesity and worsened glucose intolerance when fed a high fat diet. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Med13||
(F):5'- CACCGATACTGTGCTTCTTGG -3'
(R):5'- TCTTTTGGGATGCCTCCGAG -3'
(F):5'- GTTGGGTCTGGAATGTAAACTCCAAC -3'
(R):5'- GCAGCGCACCTCCTAGTAATG -3'