Incidental Mutation 'R4461:Med20'
ID 330172
Institutional Source Beutler Lab
Gene Symbol Med20
Ensembl Gene ENSMUSG00000092558
Gene Name mediator complex subunit 20
Synonyms 1110011O05Rik, Trfp, 2410115I17Rik
MMRRC Submission 041720-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4461 (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 47929842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 93 (V93A)
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: V93A

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000024778
Gene: ENSMUSG00000092558
AA Change: V93A

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: V93A

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117658
Gene: ENSMUSG00000023984
AA Change: V93A

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 0.0641 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (50/50)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 T C 17: 66,292,932 (GRCm39) probably null Het
Apex1 T C 14: 51,163,970 (GRCm39) V165A probably damaging Het
Btbd17 C T 11: 114,684,815 (GRCm39) D75N possibly damaging Het
Chd2 T C 7: 73,190,622 (GRCm39) probably benign Het
Coq10a T C 10: 128,200,347 (GRCm39) N138S possibly damaging Het
Ctbp1 A T 5: 33,408,357 (GRCm39) Y192N probably damaging Het
Cx3cl1 A G 8: 95,507,184 (GRCm39) *396W probably null Het
D6Ertd527e T C 6: 87,088,299 (GRCm39) I154T unknown Het
Dao T A 5: 114,157,987 (GRCm39) V203E probably damaging Het
Egr4 G A 6: 85,489,322 (GRCm39) A246V probably damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
H2-Eb2 T A 17: 34,552,497 (GRCm39) V114E possibly damaging Het
Hpgds A G 6: 65,100,618 (GRCm39) L120P probably damaging Het
Ikbke C T 1: 131,193,659 (GRCm39) V464I probably benign Het
Kank2 G A 9: 21,706,041 (GRCm39) Q326* probably null Het
Klhl26 T C 8: 70,904,194 (GRCm39) Y538C probably damaging Het
Klkb1 A G 8: 45,726,612 (GRCm39) S464P probably damaging Het
Kmt2a A G 9: 44,760,263 (GRCm39) Y529H probably damaging Het
Kmt2c A G 5: 25,504,874 (GRCm39) V3478A probably benign Het
Knl1 A C 2: 118,890,080 (GRCm39) N44T probably benign Het
Letm2 A G 8: 26,076,715 (GRCm39) C296R probably damaging Het
Lrrc37a A G 11: 103,355,180 (GRCm39) probably null Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Muc1 A T 3: 89,138,870 (GRCm39) D493V probably damaging Het
Nek2 C T 1: 191,554,827 (GRCm39) P180S probably damaging Het
Nin A T 12: 70,089,359 (GRCm39) M1352K probably benign Het
Or5aq1 T C 2: 86,966,005 (GRCm39) H220R probably benign Het
P3h3 A T 6: 124,822,531 (GRCm39) S547T probably benign Het
Pik3c2g C T 6: 139,787,407 (GRCm39) probably benign Het
Pkd1l3 A G 8: 110,359,345 (GRCm39) probably null Het
Pzp T C 6: 128,501,003 (GRCm39) I118M probably benign Het
Rps6ka5 C A 12: 100,537,123 (GRCm39) D536Y probably damaging Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Siglece T C 7: 43,300,929 (GRCm39) Q462R probably benign Het
Sirt3 T C 7: 140,444,913 (GRCm39) D295G possibly damaging Het
Snph G A 2: 151,435,767 (GRCm39) S318L probably benign Het
Snx18 T C 13: 113,753,731 (GRCm39) T401A probably damaging Het
Tefm A G 11: 80,028,875 (GRCm39) probably null Het
Thada T C 17: 84,733,665 (GRCm39) Y994C probably damaging Het
Trmt1 A G 8: 85,425,778 (GRCm39) N531D probably benign Het
Ttc17 A G 2: 94,196,916 (GRCm39) V477A probably benign Het
Ubxn10 T A 4: 138,448,187 (GRCm39) Q163L probably benign Het
Ulk4 A T 9: 120,985,950 (GRCm39) I908N possibly damaging Het
Zfp747l1 A G 7: 126,983,917 (GRCm39) L395P probably damaging Het
Zscan12 C T 13: 21,550,789 (GRCm39) S136L possibly 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
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
Predicted Primers PCR Primer
(F):5'- TGGTGCACTTGACCTATCCC -3'
(R):5'- TCTACCTGAACTAAGTGGGGCTG -3'

Sequencing Primer
(F):5'- ACTTGACCTATCCCGGGGTG -3'
(R):5'- AGCTTCCAGAATCCTTACTGTGGAG -3'
Posted On 2015-07-21