Incidental Mutation 'IGL01304:Med18'
ID73352
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med18
Ensembl Gene ENSMUSG00000066042
Gene Namemediator complex subunit 18
Synonyms2810046C01Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.955) question?
Stock #IGL01304
Quality Score
Status
Chromosome4
Chromosomal Location132458731-132463921 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 132459619 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 190 (A190S)
Ref Sequence ENSEMBL: ENSMUSP00000099627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102567] [ENSMUST00000123604]
Predicted Effect probably damaging
Transcript: ENSMUST00000102567
AA Change: A190S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099627
Gene: ENSMUSG00000066042
AA Change: A190S

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,215,721 D79E probably benign Het
Aplf A C 6: 87,641,900 S421A possibly damaging Het
Arnt T G 3: 95,448,385 D13E probably damaging Het
Asap1 T C 15: 64,312,449 E45G probably damaging Het
C2cd2l T C 9: 44,319,587 N101S probably damaging Het
Chmp7 G A 14: 69,718,613 P402L probably benign Het
Cir1 A T 2: 73,287,724 probably null Het
Clock A G 5: 76,266,355 probably null Het
Col18a1 T G 10: 77,076,141 probably benign Het
Csf2ra G A 19: 61,226,833 H115Y possibly damaging Het
Cspg5 T A 9: 110,256,168 L469H probably damaging Het
Dapk2 T C 9: 66,231,857 probably benign Het
F13a1 T C 13: 36,988,878 D176G probably benign Het
Fbn2 T C 18: 58,061,745 E1448G probably damaging Het
Gtf2b C T 3: 142,781,598 S265L probably benign Het
Hmcn1 C T 1: 150,622,924 G4068D probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Ksr1 T C 11: 79,027,642 Q562R probably damaging Het
Lrif1 C T 3: 106,731,733 P20S probably damaging Het
Mamdc4 T C 2: 25,563,576 T1194A possibly damaging Het
Mia2 G A 12: 59,104,538 E105K probably damaging Het
Mnt T A 11: 74,842,185 Y48N probably damaging Het
Mpp4 A C 1: 59,149,519 probably null Het
Olfr1272 G A 2: 90,282,081 P165S possibly damaging Het
Popdc3 T G 10: 45,317,909 S269A probably benign Het
Ppp6r3 A T 19: 3,467,261 M662K probably damaging Het
Qser1 C A 2: 104,787,631 Q945H probably damaging Het
Rad52 A G 6: 119,918,633 E198G probably damaging Het
Ranbp17 A G 11: 33,266,147 V867A possibly damaging Het
Rdh16 G T 10: 127,813,496 A274S probably benign Het
Slco1a5 G T 6: 142,242,150 Q488K probably benign Het
Snai2 T C 16: 14,706,771 I47T probably benign Het
Snw1 T C 12: 87,453,915 D358G possibly damaging Het
Speg T C 1: 75,428,197 F2878L probably benign Het
Spert T A 14: 75,592,645 D36V possibly damaging Het
Spg11 T C 2: 122,072,290 Y1386C probably damaging Het
Tgfb2 A C 1: 186,625,473 I435S probably damaging Het
Ttc9b G A 7: 27,655,985 D227N probably benign Het
Txndc2 T C 17: 65,638,453 E243G possibly damaging Het
Usp28 A G 9: 49,026,819 D563G probably damaging Het
Vmn1r77 T C 7: 12,042,035 V178A probably damaging Het
Zfp316 A G 5: 143,254,426 F613L probably benign Het
Zfp870 A T 17: 32,883,006 C450S possibly damaging Het
Other mutations in Med18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02103:Med18 APN 4 132459666 missense probably damaging 0.98
IGL02983:Med18 APN 4 132459686 nonsense probably null
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 On2013-10-07