Mutagenetix > Incidental Mutation

Incidental Mutation 'R0238:Med18'

66079

Institutional Source

Beutler Lab

Gene Symbol

Med18

Ensembl Gene

ENSMUSG00000066042

Gene Name

mediator complex subunit 18

Synonyms

2810046C01Rik

MMRRC Submission

038476-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R0238 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132458731-132463921 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132460026 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 99 (H99R)

Ref Sequence

ENSEMBL: ENSMUSP00000120535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102567] [ENSMUST00000123604]

AlphaFold

Q9CZ82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102567
AA Change: H54R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099627
Gene: ENSMUSG00000066042
AA Change: H54R

Domain	Start	End	E-Value	Type
Pfam:Med18	19	80	1.7e-12	PFAM
Pfam:Med18	61	207	2.3e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000123604
AA Change: H99R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120535
Gene: ENSMUSG00000066042
AA Change: H99R

Domain	Start	End	E-Value	Type
Pfam:Med18	64	122	9.2e-14	PFAM

Meta Mutation Damage Score

0.3571

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 92.6%
20x: 76.9%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	G	2: 156,550,973	V94G	probably benign	Het
Acp5	A	T	9: 22,129,922	S70T	possibly damaging	Het
Adcy1	C	G	11: 7,139,162	N525K	possibly damaging	Het
AI464131	A	T	4: 41,498,912	N239K	probably benign	Het
Aknad1	A	G	3: 108,781,239	M628V	probably benign	Het
Alg8	A	T	7: 97,383,684		probably null	Het
Cacna1d	A	G	14: 30,123,496	V572A	probably benign	Het
Ccdc158	A	C	5: 92,662,118	M177R	probably benign	Het
Ccdc191	A	T	16: 43,947,496	R678*	probably null	Het
Cdkn2d	C	A	9: 21,290,992		probably benign	Het
Cdx2	G	T	5: 147,303,287	T193K	probably damaging	Het
Cfap44	T	A	16: 44,422,318	M695K	probably benign	Het
Cfap70	A	C	14: 20,448,605	S5A	probably benign	Het
Chd9	T	C	8: 90,932,828	S139P	probably damaging	Het
Chmp7	A	G	14: 69,720,997	V241A	probably damaging	Het
Cnga1	A	G	5: 72,605,031	I380T	probably damaging	Het
Cts6	T	A	13: 61,201,819	E53D	probably damaging	Het
Dclk3	A	T	9: 111,482,628	N646I	probably damaging	Het
Dnhd1	A	G	7: 105,721,531	S4673G	probably benign	Het
Dock4	G	T	12: 40,737,540	S818I	probably damaging	Het
Dysf	C	T	6: 84,064,479	Q156*	probably null	Het
Fam163b	T	C	2: 27,112,634	N117S	probably damaging	Het
Fam89a	A	G	8: 124,741,232	Y114H	probably damaging	Het
Flcn	T	C	11: 59,801,076	N249S	probably benign	Het
Gm20422	T	C	8: 69,766,715	Y53C	probably damaging	Het
Gnai1	A	G	5: 18,273,550	S206P	probably damaging	Het
Hal	T	C	10: 93,503,482	S478P	possibly damaging	Het
Haus3	G	A	5: 34,166,256	P337S	possibly damaging	Het
Hectd1	T	A	12: 51,769,318	M1324L	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Hspa9	A	T	18: 34,946,646	Y243*	probably null	Het
Htr3a	T	C	9: 48,906,386	T96A	probably benign	Het
Ift140	C	A	17: 25,045,523	C557*	probably null	Het
Jph3	A	G	8: 121,753,720	Q379R	possibly damaging	Het
Kcnb1	A	G	2: 167,104,969	V653A	probably benign	Het
Kif14	A	G	1: 136,527,393	E1551G	probably damaging	Het
Krt17	G	A	11: 100,260,878	R30*	probably null	Het
Lamb3	A	T	1: 193,321,053	D100V	probably damaging	Het
Map2	A	G	1: 66,416,106	D1385G	probably damaging	Het
Map3k21	A	G	8: 125,944,970	D999G	possibly damaging	Het
Marf1	T	C	16: 14,151,283	I109V	probably benign	Het
Mcam	T	G	9: 44,140,205		probably null	Het
Mettl25	C	T	10: 105,826,525	V195I	probably damaging	Het
Myh8	A	G	11: 67,301,692	T1466A	probably benign	Het
Myo1e	A	T	9: 70,342,126	I503F	possibly damaging	Het
Myo3b	T	A	2: 70,105,425	C61S	probably benign	Het
Nf1	A	T	11: 79,418,574	K438M	possibly damaging	Het
Nlrp9c	A	G	7: 26,378,012	S727P	possibly damaging	Het
Nmbr	C	T	10: 14,770,395	Q338*	probably null	Het
Nt5e	A	G	9: 88,367,332	S440G	possibly damaging	Het
Nubp2	T	C	17: 24,884,471	E144G	probably damaging	Het
Olfr1126	T	C	2: 87,458,037	F291L	probably benign	Het
Olfr593	G	A	7: 103,212,726	V289M	possibly damaging	Het
Olfr694	A	G	7: 106,689,255	Y159H	probably benign	Het
Otogl	T	A	10: 107,806,696	N1291I	probably damaging	Het
Pa2g4	T	C	10: 128,563,642	K51R	probably benign	Het
Pcdhb12	A	G	18: 37,436,727	I309V	probably benign	Het
Pck1	T	G	2: 173,157,068	I373S	possibly damaging	Het
Pga5	A	G	19: 10,669,453	Y305H	probably damaging	Het
Plxnd1	G	T	6: 115,968,793	D906E	probably benign	Het
Ppfia4	T	C	1: 134,329,189	E98G	possibly damaging	Het
Rab39	G	A	9: 53,706,030	T29I	probably damaging	Het
Raet1e	C	A	10: 22,180,862	H112Q	possibly damaging	Het
Rars2	T	C	4: 34,645,838	Y252H	probably damaging	Het
Rars2	A	C	4: 34,656,030	Q421P	probably benign	Het
Rasa2	A	T	9: 96,568,407	D479E	probably damaging	Het
Rbl2	A	T	8: 91,106,507	T689S	probably damaging	Het
Rims4	C	T	2: 163,864,025	V230M	probably benign	Het
Skp2	A	C	15: 9,127,884		probably null	Het
Slc35f4	A	T	14: 49,304,256	I347N	possibly damaging	Het
Slc4a2	A	T	5: 24,436,274		probably null	Het
Slc52a3	T	C	2: 152,008,156	*461Q	probably null	Het
Slc6a1	G	A	6: 114,302,800	V142I	probably benign	Het
Susd5	A	G	9: 114,096,909	*620W	probably null	Het
Timm21	T	C	18: 84,947,666	N239S	probably damaging	Het
Tmem63c	T	C	12: 87,075,639	W404R	probably damaging	Het
Tnrc6b	A	G	15: 80,887,864	D1118G	probably damaging	Het
Traf2	G	C	2: 25,537,126	A71G	possibly damaging	Het
Trim54	A	G	5: 31,134,119	M195V	probably benign	Het
Trip11	C	T	12: 101,884,728	E741K	probably damaging	Het
Trp73	AGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTG	4: 154,062,524		probably benign	Het
Trpm5	G	T	7: 143,082,958	T414N	probably damaging	Het
Vps51	G	T	19: 6,071,437	S185*	probably null	Het
Zfp329	G	T	7: 12,810,829	T256K	probably damaging	Het
Zfp729b	A	G	13: 67,591,903	Y748H	probably damaging	Het
Zfp777	T	C	6: 48,024,969	E773G	probably damaging	Het

Other mutations in Med18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Med18	APN	4	132459619	missense	probably damaging	1.00
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
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

Predicted Primers

Posted On

2013-08-19