Incidental Mutation 'V7582:Med20'
ID 152624
Institutional Source Beutler Lab
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 # V7582 () of strain stinger
Quality Score 209
Status Not validated
Chromosome 17
Chromosomal Location 47922510-47935176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 47929757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 65 (V65M)
Ref Sequence ENSEMBL: ENSMUSP00000117658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024778] [ENSMUST00000132397]
AlphaFold Q9R0X0
Predicted Effect probably damaging
Transcript: ENSMUST00000024778
AA Change: V65M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024778
Gene: ENSMUSG00000092558
AA Change: V65M

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 damaging
Transcript: ENSMUST00000132397
AA Change: V65M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117658
Gene: ENSMUSG00000023984
AA Change: V65M

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 0.4615 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.3%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik A T 4: 122,595,050 (GRCm39) H102L possibly damaging Het
Ahcy G A 2: 154,906,841 (GRCm39) R151* probably null Het
Atp6v1h A G 1: 5,194,666 (GRCm39) T282A possibly damaging Het
Cdc42bpb C T 12: 111,262,825 (GRCm39) G1501S probably benign Het
Dnajc22 T A 15: 98,999,363 (GRCm39) Y183N probably damaging Het
Dpyd C T 3: 118,690,775 (GRCm39) Q295* probably null Het
Dync2i1 A C 12: 116,175,460 (GRCm39) S906A possibly damaging Het
Erv3 T C 2: 131,697,846 (GRCm39) H171R possibly damaging Het
Fam221b T C 4: 43,665,865 (GRCm39) T249A probably benign Het
Fbrsl1 C T 5: 110,527,292 (GRCm39) A129T possibly damaging Het
Fcgr1 T C 3: 96,191,592 (GRCm39) *405W probably null Het
Gm4787 G A 12: 81,424,341 (GRCm39) Q606* probably null Het
Hira G A 16: 18,713,571 (GRCm39) A29T probably damaging Het
Izumo4 A T 10: 80,539,725 (GRCm39) T155S probably benign Het
Kcnb2 A G 1: 15,780,315 (GRCm39) I396V probably benign Het
Lpar5 C A 6: 125,058,690 (GRCm39) A137E possibly damaging Het
Lrp4 C T 2: 91,318,863 (GRCm39) S900L possibly damaging Het
Myrfl T C 10: 116,697,435 (GRCm39) T30A probably damaging Het
Or10j7 G T 1: 173,011,531 (GRCm39) L157I probably benign Het
Otop3 T A 11: 115,235,664 (GRCm39) L432Q probably damaging Het
Papln C T 12: 83,825,608 (GRCm39) R608C possibly damaging Het
Pelp1 T A 11: 70,288,976 (GRCm39) T257S probably damaging Het
Pik3cd A C 4: 149,741,776 (GRCm39) L390R probably damaging Het
Plekhb1 T C 7: 100,303,825 (GRCm39) T112A probably benign Het
Rbbp8nl T A 2: 179,920,001 (GRCm39) T558S probably benign Het
Rundc3b TGCCGCCGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGCCGC 5: 8,672,549 (GRCm39) probably benign Het
Slc30a4 T A 2: 122,531,458 (GRCm39) M136L probably benign Het
Spaca1 T C 4: 34,039,311 (GRCm39) E192G probably damaging Het
Thbd A T 2: 148,249,110 (GRCm39) Y253N probably benign Het
Tiam1 C T 16: 89,662,159 (GRCm39) R653H probably damaging Het
Tnrc6c G A 11: 117,614,152 (GRCm39) R770H probably damaging Het
Toe1 A T 4: 116,663,308 (GRCm39) N56K probably damaging Het
Tprkb A G 6: 85,905,764 (GRCm39) K150E probably damaging Het
Zfp292 C T 4: 34,806,783 (GRCm39) C2087Y possibly damaging Het
Zfp933 G A 4: 147,910,927 (GRCm39) A223V 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
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
Predicted Primers PCR Primer
(F):5'- GCACCCAAGAATTTTCTGGTGCTCG -3'
(R):5'- AGCCCACAGCATATCCTGCTTGTC -3'

Sequencing Primer
(F):5'- GCTGGCTTTTCCAATTACCCG -3'
(R):5'- GGTCTTACCTCCACAGAGATG -3'
Posted On 2014-01-29