Incidental Mutation 'IGL02103:Med18'
ID279832
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 #IGL02103
Quality Score
Status
Chromosome4
Chromosomal Location132458731-132463921 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 132459666 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 174 (V174D)
Ref Sequence ENSEMBL: ENSMUSP00000099627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102567] [ENSMUST00000123604]
Predicted Effect probably damaging
Transcript: ENSMUST00000102567
AA Change: V174D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099627
Gene: ENSMUSG00000066042
AA Change: V174D

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,612,364 T206M probably benign Het
Adcy3 T A 12: 4,134,390 V22D possibly damaging Het
Alb G A 5: 90,464,131 E140K probably benign Het
Aph1a G A 3: 95,895,813 V193I probably damaging Het
Asb2 G A 12: 103,333,496 R178* probably null Het
Celf3 A T 3: 94,486,801 Q137L probably damaging Het
Cmya5 T C 13: 93,092,127 D2151G probably benign Het
Cuedc1 T A 11: 88,188,799 S353T probably damaging Het
Dlg5 A C 14: 24,144,346 L1709R probably damaging Het
Dst T C 1: 34,190,118 I1939T possibly damaging Het
Emx2 A T 19: 59,461,698 N149I probably benign Het
Fancm A G 12: 65,095,784 D472G probably benign Het
Fasn T C 11: 120,811,936 Y1700C probably damaging Het
Fat2 T A 11: 55,289,296 R1406S probably damaging Het
Fat4 C A 3: 38,889,199 T747K probably damaging Het
Fer A G 17: 64,138,928 M795V probably benign Het
Gm5916 A G 9: 36,128,674 L6P probably damaging Het
Gpr139 A G 7: 119,145,132 F77L possibly damaging Het
Kcnu1 T C 8: 25,905,948 S654P possibly damaging Het
Kdm5c T A X: 152,248,766 F408L probably damaging Het
Kel A G 6: 41,702,389 S147P probably benign Het
Klra5 A T 6: 129,911,344 probably null Het
Mastl A G 2: 23,139,998 S239P probably benign Het
Mgat4a A T 1: 37,462,926 M247K possibly damaging Het
Mx2 A C 16: 97,544,595 D71A probably damaging Het
Nxt1 G T 2: 148,675,644 E102* probably null Het
Olfr125 A G 17: 37,835,278 Q93R possibly damaging Het
Olfr410 A G 11: 74,335,036 F65S probably damaging Het
Olfr828 T C 9: 18,815,709 N195S probably damaging Het
Pcdhb16 T A 18: 37,480,108 V707E probably benign Het
Pdzrn4 T A 15: 92,769,887 V640E probably damaging Het
Piwil4 T C 9: 14,725,986 probably null Het
Pla2g4a A T 1: 149,901,199 D55E probably damaging Het
Plekhg2 C A 7: 28,360,076 R1276L probably damaging Het
Psd4 G A 2: 24,400,528 W539* probably null Het
Rae1 G A 2: 173,003,513 E33K probably damaging Het
Rbm12b1 T A 4: 12,145,563 F512I probably damaging Het
Rfx6 A G 10: 51,726,856 D823G possibly damaging Het
Samt3 A T X: 86,047,153 Q217L probably damaging Het
Selenbp2 A G 3: 94,698,131 N134S probably null Het
Selenoo T C 15: 89,099,970 V663A probably damaging Het
Sp4 G T 12: 118,299,549 T254N probably damaging Het
Spdya A G 17: 71,578,247 K232R probably benign Het
Stom A T 2: 35,320,389 V201E probably benign Het
Sycp3 A G 10: 88,466,472 K108R possibly damaging Het
Usp2 A G 9: 44,089,128 probably benign Het
Vmn1r226 T C 17: 20,687,664 S53P probably damaging Het
Vmn2r14 C T 5: 109,224,483 G47D probably damaging Het
Vwf T G 6: 125,646,355 L1805W probably damaging Het
Washc3 A T 10: 88,201,825 Q22L probably damaging Het
Wdr81 T A 11: 75,444,720 D1761V probably damaging Het
Other mutations in Med18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Med18 APN 4 132459619 missense probably damaging 1.00
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
Posted On2015-04-16