Incidental Mutation 'IGL02983:Med18'
ID 406618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med18
Ensembl Gene ENSMUSG00000066042
Gene Name mediator complex subunit 18
Synonyms 2810046C01Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # IGL02983
Quality Score
Status
Chromosome 4
Chromosomal Location 132186042-132191232 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 132186997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 167 (Y167*)
Ref Sequence ENSEMBL: ENSMUSP00000099627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102567] [ENSMUST00000123604]
AlphaFold Q9CZ82
Predicted Effect probably null
Transcript: ENSMUST00000102567
AA Change: Y167*
SMART Domains Protein: ENSMUSP00000099627
Gene: ENSMUSG00000066042
AA Change: Y167*

DomainStartEndE-ValueType
Pfam:Med18 19 80 1.7e-12 PFAM
Pfam:Med18 61 207 2.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123604
SMART Domains Protein: ENSMUSP00000120535
Gene: ENSMUSG00000066042

DomainStartEndE-ValueType
Pfam:Med18 64 122 9.2e-14 PFAM
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,240,663 (GRCm39) N842S probably benign Het
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Brip1 T C 11: 86,029,950 (GRCm39) I565V probably benign Het
Camta2 C T 11: 70,562,848 (GRCm39) R959Q probably damaging Het
Cbln2 A G 18: 86,731,504 (GRCm39) E104G probably benign Het
Cdc42ep4 T C 11: 113,619,995 (GRCm39) K132R probably benign Het
Clcnka T A 4: 141,117,442 (GRCm39) I452F probably damaging Het
Clec4a3 T A 6: 122,944,526 (GRCm39) probably null Het
Crat A C 2: 30,294,538 (GRCm39) probably null Het
Cspp1 A G 1: 10,197,750 (GRCm39) K227R probably benign Het
Ddx1 A T 12: 13,273,863 (GRCm39) I588N probably damaging Het
Dip2b G T 15: 100,029,903 (GRCm39) R98L possibly damaging Het
Dock5 G A 14: 68,002,119 (GRCm39) P1617L probably damaging Het
Fa2h C T 8: 112,073,154 (GRCm39) probably null Het
Fezf1 T A 6: 23,247,871 (GRCm39) N68I probably damaging Het
Gabrb2 A T 11: 42,312,227 (GRCm39) L17F probably benign Het
Gm17078 T C 14: 51,848,647 (GRCm39) K30R probably benign Het
Gramd4 G A 15: 86,011,219 (GRCm39) V249M probably damaging Het
Kcnd2 A C 6: 21,216,554 (GRCm39) D86A probably damaging Het
Lrp1 T C 10: 127,386,068 (GRCm39) E3486G probably damaging Het
Ltb A G 17: 35,413,646 (GRCm39) D50G probably benign Het
Nat14 G A 7: 4,927,127 (GRCm39) A100T probably damaging Het
Nscme3l A G 19: 5,553,209 (GRCm39) F191L possibly damaging Het
Nxph2 T C 2: 23,290,374 (GRCm39) V242A probably damaging Het
Or1j10 T A 2: 36,267,649 (GRCm39) I287N probably damaging Het
Or1x2 T C 11: 50,918,207 (GRCm39) V126A probably damaging Het
Or2a55-ps1 T C 6: 43,071,582 (GRCm39) noncoding transcript Het
Or6c219 T A 10: 129,781,058 (GRCm39) N291I probably damaging Het
Pramel15 T C 4: 144,099,697 (GRCm39) E356G probably benign Het
Rad21l A G 2: 151,497,040 (GRCm39) L358S probably damaging Het
Rasgef1c A G 11: 49,847,876 (GRCm39) T4A possibly damaging Het
Spata31d1a A G 13: 59,851,508 (GRCm39) S207P possibly damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Szt2 T C 4: 118,222,976 (GRCm39) probably benign Het
Taf6 T C 5: 138,177,142 (GRCm39) T642A probably benign Het
Tmem30a A T 9: 79,678,725 (GRCm39) M277K possibly damaging Het
Vmn1r86 T C 7: 12,836,741 (GRCm39) D45G probably damaging Het
Xkr5 T C 8: 18,983,848 (GRCm39) I565V probably benign Het
Zfp526 C T 7: 24,923,840 (GRCm39) A33V probably benign 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
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
R6694:Med18 UTSW 4 132,187,293 (GRCm39) missense probably benign 0.06
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
Posted On 2016-08-02