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
Is this an essential gene? Probably essential (E-score: 0.953) question?
Stock # IGL02983
Quality Score
Status
Chromosome 4
Chromosomal Location 132458731-132463921 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 132459686 bp (GRCm38)
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
1700020D05Rik A G 19: 5,503,181 F191L possibly damaging Het
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cbln2 A G 18: 86,713,379 E104G probably benign Het
Cdc42ep4 T C 11: 113,729,169 K132R probably benign Het
Clcnka T A 4: 141,390,131 I452F probably damaging Het
Clec4a3 T A 6: 122,967,567 probably null Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gm17078 T C 14: 51,611,190 K30R probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Nat14 G A 7: 4,924,128 A100T probably damaging Het
Nxph2 T C 2: 23,400,362 V242A probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr54 T C 11: 51,027,380 V126A probably damaging Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rad21l A G 2: 151,655,120 L358S probably damaging Het
Rasgef1c A G 11: 49,957,049 T4A possibly damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Taf6 T C 5: 138,178,880 T642A probably benign Het
Tmem30a A T 9: 79,771,443 M277K possibly damaging Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Xkr5 T C 8: 18,933,832 I565V probably benign Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in Med18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Med18 APN 4 132459619 missense probably damaging 1.00
IGL02103:Med18 APN 4 132459666 missense probably damaging 0.98
IGL03031:Med18 APN 4 132459613 missense possibly damaging 0.71
R0238:Med18 UTSW 4 132460026 missense probably damaging 0.96
R0238:Med18 UTSW 4 132460026 missense probably damaging 0.96
R1737:Med18 UTSW 4 132460109 missense probably damaging 1.00
R1894:Med18 UTSW 4 132459931 nonsense probably null
R2696:Med18 UTSW 4 132459970 missense probably damaging 1.00
R2900:Med18 UTSW 4 132459817 missense probably damaging 1.00
R3017:Med18 UTSW 4 132459817 missense probably damaging 1.00
R3019:Med18 UTSW 4 132459817 missense probably damaging 1.00
R3980:Med18 UTSW 4 132462940 missense probably benign 0.02
R4648:Med18 UTSW 4 132462963 missense possibly damaging 0.86
R5330:Med18 UTSW 4 132463066 intron probably benign
R6049:Med18 UTSW 4 132459713 missense probably benign
R6694:Med18 UTSW 4 132459982 missense probably benign 0.06
R6931:Med18 UTSW 4 132459883 missense probably damaging 0.99
R7556:Med18 UTSW 4 132459936 missense probably benign 0.35
Posted On 2016-08-02