Incidental Mutation 'IGL01648:Med20'
ID 102747
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med20
Ensembl Gene ENSMUSG00000092558
Gene Name mediator complex subunit 20
Synonyms 1110011O05Rik, Trfp, 2410115I17Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01648
Quality Score
Status
Chromosome 17
Chromosomal Location 47922510-47935176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47933925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 180 (H180R)
Ref Sequence ENSEMBL: ENSMUSP00000024778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024778] [ENSMUST00000132397]
AlphaFold Q9R0X0
Predicted Effect possibly damaging
Transcript: ENSMUST00000024778
AA Change: H180R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024778
Gene: ENSMUSG00000092558
AA Change: H180R

DomainStartEndE-ValueType
Pfam:Med20 1 198 6.7e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130830
Predicted Effect probably benign
Transcript: ENSMUST00000132397
SMART Domains Protein: ENSMUSP00000117658
Gene: ENSMUSG00000023984

DomainStartEndE-ValueType
Pfam:Med20 1 149 1.6e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146105
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149893
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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, by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. A mutation in this gene has been associated with a novel infantile-onset neurodegenerative movement disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A G 5: 26,695,398 (GRCm39) noncoding transcript Het
Abca7 C T 10: 79,846,914 (GRCm39) S1664L probably damaging Het
Aebp1 G T 11: 5,820,607 (GRCm39) R499L possibly damaging Het
Agt C A 8: 125,291,145 (GRCm39) S54I probably benign Het
Chic2 T A 5: 75,187,860 (GRCm39) S67C probably damaging Het
Col12a1 T A 9: 79,508,451 (GRCm39) *3066Y probably null Het
Fan1 A G 7: 64,022,297 (GRCm39) S319P probably damaging Het
Fgd5 C T 6: 91,966,340 (GRCm39) Q700* probably null Het
Frem2 T A 3: 53,443,153 (GRCm39) H2537L possibly damaging Het
Lingo1 C A 9: 56,527,111 (GRCm39) A493S probably damaging Het
Megf8 T C 7: 25,026,997 (GRCm39) C152R probably damaging Het
Mms22l T C 4: 24,502,805 (GRCm39) F59S probably damaging Het
Or4a39 A T 2: 89,236,535 (GRCm39) M296K probably damaging Het
Pgm5 T C 19: 24,801,715 (GRCm39) D171G probably damaging Het
Rbm47 A T 5: 66,182,321 (GRCm39) N437K possibly damaging Het
Tpra1 T A 6: 88,886,653 (GRCm39) probably benign Het
Tradd A G 8: 105,986,418 (GRCm39) L118S probably damaging Het
Trib1 G T 15: 59,526,350 (GRCm39) V307F probably benign Het
Vps50 T A 6: 3,498,545 (GRCm39) M8K probably benign Het
Xrcc6 A T 15: 81,909,835 (GRCm39) E238V probably damaging Het
Other mutations in Med20
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0847:Med20 UTSW 17 47,922,618 (GRCm39) critical splice donor site probably null
R0881:Med20 UTSW 17 47,922,605 (GRCm39) start codon destroyed probably null 1.00
R4460:Med20 UTSW 17 47,929,842 (GRCm39) missense probably benign 0.39
R4461:Med20 UTSW 17 47,929,842 (GRCm39) missense probably benign 0.39
R5212:Med20 UTSW 17 47,929,775 (GRCm39) missense probably benign 0.02
R5605:Med20 UTSW 17 47,934,069 (GRCm39) intron probably benign
R8166:Med20 UTSW 17 47,924,027 (GRCm39) missense probably benign 0.00
V7580:Med20 UTSW 17 47,929,757 (GRCm39) missense probably damaging 1.00
V7582:Med20 UTSW 17 47,929,757 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21