|Institutional Source||Beutler Lab|
|Gene Name||mediator complex subunit 17|
|Synonyms||Trap80, C330002H14Rik, Crsp6|
|Is this an essential gene?||Probably essential (E-score: 0.968)|
|Stock #||R4701 (G1)|
|Chromosomal Location||15260351-15279931 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 15270360 bp|
|Amino Acid Change||Histidine to Glutamine at position 31 (H31Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000148980 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034411] [ENSMUST00000213788] [ENSMUST00000216406]|
|Predicted Effect||possibly damaging
AA Change: H435Q
PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: H435Q
|Predicted Effect||noncoding transcript
|Predicted Effect||probably damaging
AA Change: H31Q
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.8675|
|Coding Region Coverage||
|Validation Efficiency||96% (108/112)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Med17||
(F):5'- GTCCTTGGTAGTGTTAAAAGCAGAG -3'
(R):5'- GTCAGTTTCATAAACAGACCTTGAG -3'
(F):5'- TGTTAAAAGCAGAGCAATTCAGC -3'
(R):5'- ACAGACCTTGAGTTCCATTGTG -3'