Incidental Mutation 'R5212:Med20'
ID 403214
Institutional Source Beutler Lab
Gene Symbol Med20
Ensembl Gene ENSMUSG00000092558
Gene Name mediator complex subunit 20
Synonyms 1110011O05Rik, Trfp, 2410115I17Rik
MMRRC Submission 042786-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5212 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 47922510-47935176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47929775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 71 (Y71H)
Ref Sequence ENSEMBL: ENSMUSP00000117658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024778] [ENSMUST00000132397]
AlphaFold Q9R0X0
Predicted Effect probably benign
Transcript: ENSMUST00000024778
AA Change: Y71H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024778
Gene: ENSMUSG00000092558
AA Change: Y71H

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
AA Change: Y71H

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000117658
Gene: ENSMUSG00000023984
AA Change: Y71H

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
Meta Mutation Damage Score 0.0583 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (58/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,771,611 (GRCm39) S267T possibly damaging Het
Abca9 T C 11: 109,998,052 (GRCm39) D1514G probably benign Het
Adamtsl4 T A 3: 95,584,980 (GRCm39) D896V probably damaging Het
Amer2 A G 14: 60,617,269 (GRCm39) Y362C probably damaging Het
Arglu1 T A 8: 8,733,843 (GRCm39) R158W probably damaging Het
Arhgef7 A G 8: 11,778,388 (GRCm39) E46G probably benign Het
Atg2b A G 12: 105,613,055 (GRCm39) V1172A probably benign Het
Bhlhe23 T A 2: 180,417,886 (GRCm39) K217N probably damaging Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Ccp110 C T 7: 118,328,919 (GRCm39) A845V probably damaging Het
Cd63 A G 10: 128,747,722 (GRCm39) Y105C probably damaging Het
Cdk11b T C 4: 155,723,072 (GRCm39) probably null Het
Clip1 T A 5: 123,768,744 (GRCm39) R618S probably benign Het
Crybg1 A T 10: 43,843,739 (GRCm39) F1731L possibly damaging Het
Dock1 A C 7: 134,390,923 (GRCm39) K728Q possibly damaging Het
Emc2 A G 15: 43,374,240 (GRCm39) E180G probably damaging Het
F13b A T 1: 139,440,725 (GRCm39) I394F probably benign Het
Fnta A G 8: 26,499,735 (GRCm39) I155T probably benign Het
Fshr T A 17: 89,293,684 (GRCm39) E331D probably benign Het
Fshr T A 17: 89,293,685 (GRCm39) E331V probably benign Het
Gas2l1 A T 11: 5,011,108 (GRCm39) C574S probably benign Het
Ggnbp2 T A 11: 84,744,847 (GRCm39) probably benign Het
Gm3371 A C 14: 44,641,111 (GRCm39) probably benign Het
Gm7489 T A 15: 53,749,016 (GRCm39) probably benign Het
Hand1 A C 11: 57,722,273 (GRCm39) F114V probably damaging Het
Itga4 A C 2: 79,110,939 (GRCm39) H259P probably damaging Het
Jakmip1 A T 5: 37,262,245 (GRCm39) H183L probably benign Het
Kifbp A T 10: 62,398,908 (GRCm39) probably benign Het
Krt8 G T 15: 101,906,402 (GRCm39) A369D possibly damaging Het
Krt82 T C 15: 101,453,484 (GRCm39) S301G probably damaging Het
Lig3 A G 11: 82,678,504 (GRCm39) T248A probably benign Het
Madcam1 C G 10: 79,504,179 (GRCm39) T255S probably benign Het
Mtss2 A G 8: 111,455,850 (GRCm39) I107V probably damaging Het
Nans T C 4: 46,502,547 (GRCm39) F328S possibly damaging Het
Ncbp3 A G 11: 72,944,373 (GRCm39) probably benign Het
Nek8 T C 11: 78,063,342 (GRCm39) M1V probably null Het
Nufip1 A T 14: 76,370,538 (GRCm39) N413I possibly damaging Het
Pbx3 T C 2: 34,178,793 (GRCm39) probably benign Het
Plppr3 C T 10: 79,698,279 (GRCm39) G419R probably benign Het
Rfx1 G T 8: 84,793,221 (GRCm39) probably benign Het
Rnpepl1 C T 1: 92,839,045 (GRCm39) A68V probably benign Het
Rsbn1l A T 5: 21,101,212 (GRCm39) M776K probably benign Het
Setd7 A T 3: 51,450,238 (GRCm39) Y63N probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Snap47 T C 11: 59,319,178 (GRCm39) E320G probably damaging Het
Spaca6 C A 17: 18,058,656 (GRCm39) P68Q probably benign Het
Tdrd3 G C 14: 87,743,651 (GRCm39) R527P probably damaging Het
Tmprss2 G T 16: 97,377,492 (GRCm39) Q202K probably benign Het
Tmprss6 A G 15: 78,330,460 (GRCm39) V69A probably damaging Het
Trav6-1 A T 14: 52,876,161 (GRCm39) Q27L probably benign Het
Ttn C T 2: 76,731,957 (GRCm39) probably benign Het
Ttn T C 2: 76,619,945 (GRCm39) I15908V probably benign Het
Ttn T A 2: 76,628,019 (GRCm39) D12931V probably damaging Het
Ush2a T A 1: 188,176,902 (GRCm39) probably null Het
Wls A G 3: 159,578,645 (GRCm39) N69S probably benign Het
Other mutations in Med20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01648:Med20 APN 17 47,933,925 (GRCm39) missense possibly damaging 0.92
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
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
Predicted Primers PCR Primer
(F):5'- GCATCTCTGGAAAAGGCTAGC -3'
(R):5'- CTTACCTCCACAGAGATGCC -3'

Sequencing Primer
(F):5'- AGGCTAGCACTTAAGGATCCTTC -3'
(R):5'- ATTGTGACCGTGCCCAC -3'
Posted On 2016-07-22