Incidental Mutation 'R6694:Med18'
ID 528486
Institutional Source Beutler Lab
Gene Symbol Med18
Ensembl Gene ENSMUSG00000066042
Gene Name mediator complex subunit 18
Synonyms 2810046C01Rik
MMRRC Submission 044812-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R6694 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 132186042-132191232 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 132187293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 114 (V114I)
Ref Sequence ENSEMBL: ENSMUSP00000120535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102567] [ENSMUST00000123604]
AlphaFold Q9CZ82
Predicted Effect probably benign
Transcript: ENSMUST00000102567
AA Change: V69I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099627
Gene: ENSMUSG00000066042
AA Change: V69I

DomainStartEndE-ValueType
Pfam:Med18 19 80 1.7e-12 PFAM
Pfam:Med18 61 207 2.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123604
AA Change: V114I

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000120535
Gene: ENSMUSG00000066042
AA Change: V114I

DomainStartEndE-ValueType
Pfam:Med18 64 122 9.2e-14 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
Validation Efficiency 95% (41/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MED18 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 G A 6: 48,907,480 (GRCm39) S160N probably benign Het
Arap3 A C 18: 38,124,590 (GRCm39) probably null Het
Arhgap10 A G 8: 78,137,692 (GRCm39) F300L probably benign Het
Ccdc116 T C 16: 16,960,655 (GRCm39) E54G probably benign Het
Cd53 T A 3: 106,674,702 (GRCm39) I122F probably benign Het
Ctnnd1 T C 2: 84,454,849 (GRCm39) probably benign Het
Ddx60 A G 8: 62,490,104 (GRCm39) D1691G probably damaging Het
Dnah11 T C 12: 118,150,617 (GRCm39) probably null Het
Exoc1 T A 5: 76,697,399 (GRCm39) M392K probably damaging Het
Exoc3l G C 8: 106,017,122 (GRCm39) R622G probably benign Het
Grid2 C G 6: 63,908,031 (GRCm39) R224G possibly damaging Het
Kif20a A G 18: 34,758,579 (GRCm39) E16G probably damaging Het
Kit T C 5: 75,801,417 (GRCm39) V568A possibly damaging Het
Lhx4 T C 1: 155,580,456 (GRCm39) S257G probably benign Het
Mrps30 C T 13: 118,523,497 (GRCm39) V92M possibly damaging Het
Mtrr C T 13: 68,712,452 (GRCm39) V645I probably benign Het
Nuak2 T G 1: 132,260,048 (GRCm39) S609A probably damaging Het
Or2y1g A T 11: 49,171,379 (GRCm39) I135F probably benign Het
Plk4 T C 3: 40,756,263 (GRCm39) V58A probably damaging Het
Polq T A 16: 36,835,535 (GRCm39) F145L probably null Het
Rab11fip2 T C 19: 59,925,707 (GRCm39) K170R probably damaging Het
Rapgef3 A G 15: 97,657,865 (GRCm39) V246A probably benign Het
Rc3h2 A G 2: 37,290,555 (GRCm39) S316P probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsf1 GCGGCGGC GCGGCGGCGACGGCGGC 7: 97,229,135 (GRCm39) probably benign Het
Sae1 G T 7: 16,102,461 (GRCm39) A171E probably damaging Het
Semp2l2b T C 10: 21,943,620 (GRCm39) E120G probably damaging Het
Setd5 T A 6: 113,120,669 (GRCm39) N959K probably benign Het
Siae T A 9: 37,528,119 (GRCm39) Y31N probably damaging Het
Sit1 C T 4: 43,483,311 (GRCm39) G51D probably damaging Het
Slc5a11 A G 7: 122,867,012 (GRCm39) I436V possibly damaging Het
Tcfl5 A G 2: 180,264,447 (GRCm39) S470P probably damaging Het
Timd2 A T 11: 46,561,779 (GRCm39) C288* probably null Het
Timeless T G 10: 128,075,868 (GRCm39) probably null Het
Ubxn8 G T 8: 34,111,572 (GRCm39) Q274K possibly damaging Het
Usp29 A G 7: 6,965,276 (GRCm39) E373G probably benign Het
Zap70 A G 1: 36,821,598 (GRCm39) Y597C probably damaging Het
Zfp523 T G 17: 28,419,446 (GRCm39) Y195D probably damaging Het
Zfp74 G A 7: 29,634,559 (GRCm39) A383V probably damaging Het
Zfp93 A T 7: 23,975,338 (GRCm39) Q441L probably damaging Het
Zfp976 A T 7: 42,263,610 (GRCm39) Y76N probably damaging Het
Other mutations in Med18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Med18 APN 4 132,186,930 (GRCm39) missense probably damaging 1.00
IGL02103:Med18 APN 4 132,186,977 (GRCm39) missense probably damaging 0.98
IGL02983:Med18 APN 4 132,186,997 (GRCm39) nonsense probably null
IGL03031:Med18 APN 4 132,186,924 (GRCm39) missense possibly damaging 0.71
R0238:Med18 UTSW 4 132,187,337 (GRCm39) missense probably damaging 0.96
R0238:Med18 UTSW 4 132,187,337 (GRCm39) missense probably damaging 0.96
R1737:Med18 UTSW 4 132,187,420 (GRCm39) missense probably damaging 1.00
R1894:Med18 UTSW 4 132,187,242 (GRCm39) nonsense probably null
R2696:Med18 UTSW 4 132,187,281 (GRCm39) missense probably damaging 1.00
R2900:Med18 UTSW 4 132,187,128 (GRCm39) missense probably damaging 1.00
R3017:Med18 UTSW 4 132,187,128 (GRCm39) missense probably damaging 1.00
R3019:Med18 UTSW 4 132,187,128 (GRCm39) missense probably damaging 1.00
R3980:Med18 UTSW 4 132,190,251 (GRCm39) missense probably benign 0.02
R4648:Med18 UTSW 4 132,190,274 (GRCm39) missense possibly damaging 0.86
R5330:Med18 UTSW 4 132,190,377 (GRCm39) intron probably benign
R6049:Med18 UTSW 4 132,187,024 (GRCm39) missense probably benign
R6931:Med18 UTSW 4 132,187,194 (GRCm39) missense probably damaging 0.99
R7556:Med18 UTSW 4 132,187,247 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- CGAAACAGGTGTCCTTTGGC -3'
(R):5'- TCGCTGGTTTCATGACCCTAAATG -3'

Sequencing Primer
(F):5'- AAACTCATGGTCCATGCGG -3'
(R):5'- CCTAAATGAAATGAAAGCCGGGACTC -3'
Posted On 2018-07-24