Incidental Mutation 'R8166:Med20'
ID 633809
Institutional Source Beutler Lab
Gene Symbol Med20
Ensembl Gene ENSMUSG00000092558
Gene Name mediator complex subunit 20
Synonyms 1110011O05Rik, Trfp, 2410115I17Rik
MMRRC Submission 067592-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8166 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 47922510-47935176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47924027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 52 (T52A)
Ref Sequence ENSEMBL: ENSMUSP00000024778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024778] [ENSMUST00000024783] [ENSMUST00000132397]
AlphaFold Q9R0X0
Predicted Effect probably benign
Transcript: ENSMUST00000024778
AA Change: T52A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000024778
Gene: ENSMUSG00000092558
AA Change: T52A

DomainStartEndE-ValueType
Pfam:Med20 1 198 6.7e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000024783
SMART Domains Protein: ENSMUSP00000024783
Gene: ENSMUSG00000023988

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
low complexity region 52 69 N/A INTRINSIC
Pfam:Bystin 140 430 1.1e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132397
AA Change: T52A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000117658
Gene: ENSMUSG00000023984
AA Change: T52A

DomainStartEndE-ValueType
Pfam:Med20 1 149 1.6e-40 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (59/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,144,232 (GRCm39) V569A probably benign Het
Actrt3 A G 3: 30,652,674 (GRCm39) F140S probably damaging Het
Alx1 T A 10: 102,845,224 (GRCm39) Q269L probably damaging Het
Amph G T 13: 19,132,660 (GRCm39) A20S possibly damaging Het
Aqr T A 2: 113,943,806 (GRCm39) M1111L possibly damaging Het
Atp10a A T 7: 58,457,270 (GRCm39) H923L possibly damaging Het
Bmpr1a A C 14: 34,147,026 (GRCm39) W249G probably damaging Het
Bmpr2 A T 1: 59,906,740 (GRCm39) N611I probably damaging Het
Cadm2 A G 16: 66,750,197 (GRCm39) L9S probably benign Het
Ccdc102a C A 8: 95,639,944 (GRCm39) A117S possibly damaging Het
Clec4f G T 6: 83,629,624 (GRCm39) S311R possibly damaging Het
Dchs2 T A 3: 83,261,640 (GRCm39) I2636N probably benign Het
Dync2h1 T A 9: 7,129,089 (GRCm39) K1809* probably null Het
Efs C T 14: 55,158,077 (GRCm39) R108Q probably damaging Het
Eif5b A G 1: 38,087,901 (GRCm39) T966A probably benign Het
Entrep2 A G 7: 64,409,153 (GRCm39) S414P probably benign Het
Flnc A C 6: 29,433,731 (GRCm39) N92H probably damaging Het
Gm13030 A T 4: 138,598,533 (GRCm39) L130H unknown Het
Gm17190 A C 13: 96,219,142 (GRCm39) R159S unknown Het
Hipk1 T C 3: 103,685,489 (GRCm39) Y42C possibly damaging Het
Ifi207 C A 1: 173,557,166 (GRCm39) C524F possibly damaging Het
Ifi207 A C 1: 173,557,504 (GRCm39) S411R probably benign Het
Ighv8-9 G T 12: 115,432,212 (GRCm39) P33H probably damaging Het
Igkv8-34 A G 6: 70,021,619 (GRCm39) V15A probably benign Het
Irx5 T A 8: 93,086,712 (GRCm39) probably null Het
Kcnh4 A G 11: 100,632,712 (GRCm39) L925P probably benign Het
Kctd9 G A 14: 67,967,141 (GRCm39) R153H possibly damaging Het
Lats1 A G 10: 7,577,880 (GRCm39) T335A probably benign Het
Msantd4 A T 9: 4,384,095 (GRCm39) T139S possibly damaging Het
Mtif3 T C 5: 146,896,052 (GRCm39) T12A probably benign Het
N4bp2 T G 5: 65,977,655 (GRCm39) S1518A probably benign Het
Naip2 T C 13: 100,298,515 (GRCm39) N507S probably benign Het
Nasp A T 4: 116,468,112 (GRCm39) V291E probably benign Het
Ncapg2 T G 12: 116,376,036 (GRCm39) D40E probably benign Het
Nipsnap1 A G 11: 4,834,057 (GRCm39) D103G probably benign Het
Nsmce1 A G 7: 125,070,319 (GRCm39) L164P probably damaging Het
Ogdhl G A 14: 32,059,763 (GRCm39) V426I probably damaging Het
Or5p66 A G 7: 107,885,904 (GRCm39) V143A probably benign Het
P3h2 T C 16: 25,811,572 (GRCm39) E217G possibly damaging Het
Pnpt1 A G 11: 29,106,875 (GRCm39) I649V probably benign Het
Prxl2c A T 13: 64,456,921 (GRCm39) Y101N Het
Pum2 G A 12: 8,771,739 (GRCm39) A361T possibly damaging Het
Rictor G A 15: 6,798,815 (GRCm39) probably null Het
Rps6ka4 G A 19: 6,814,811 (GRCm39) R264W possibly damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Sall1 T C 8: 89,755,146 (GRCm39) T1278A probably benign Het
Scg2 T A 1: 79,413,300 (GRCm39) K434N possibly damaging Het
Suclg1 T A 6: 73,237,555 (GRCm39) V100D probably damaging Het
Tarbp1 T G 8: 127,153,867 (GRCm39) E1528D possibly damaging Het
Trgc1 A G 13: 19,400,772 (GRCm39) N167S Het
Tshz2 C A 2: 169,725,575 (GRCm39) T57K probably benign Het
Ttc22 G A 4: 106,491,673 (GRCm39) R229H probably damaging Het
Vcan A G 13: 89,840,855 (GRCm39) V1563A probably benign Het
Vmn1r68 A T 7: 10,261,888 (GRCm39) M70K probably benign Het
Vmn2r105 A T 17: 20,428,904 (GRCm39) I724N probably benign Het
Vmn2r96 T C 17: 18,802,744 (GRCm39) L26P probably damaging Het
Wdr72 G A 9: 74,120,610 (GRCm39) S955N probably benign Het
Zfp518b C A 5: 38,831,838 (GRCm39) A56S probably damaging 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
R5212:Med20 UTSW 17 47,929,775 (GRCm39) missense probably benign 0.02
R5605:Med20 UTSW 17 47,934,069 (GRCm39) intron probably benign
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'- AACTCCTAGCCCTGCTGATC -3'
(R):5'- TGACCACCATAATATAAGATGGACC -3'

Sequencing Primer
(F):5'- CAGAAGCTCTGTGTCTCTGGAC -3'
(R):5'- CCATAATATAAGATGGACCAAGAACG -3'
Posted On 2020-07-13