Mutagenetix > Incidental Mutation

Incidental Mutation 'R2696:Med18'

251023

Institutional Source

Beutler Lab

Gene Symbol

Med18

Ensembl Gene

ENSMUSG00000066042

Gene Name

mediator complex subunit 18

Synonyms

2810046C01Rik

MMRRC Submission

040434-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R2696 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132186042-132191232 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 132187281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 118 (R118W)

Ref Sequence

ENSEMBL: ENSMUSP00000120535 (fasta)

Gene Model

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

AlphaFold

Q9CZ82

Predicted Effect

probably damaging
Transcript: ENSMUST00000102567
AA Change: R73W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099627
Gene: ENSMUSG00000066042
AA Change: R73W

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: R118W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120535
Gene: ENSMUSG00000066042
AA Change: R118W

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,668,228 (GRCm39)	T540S	probably benign	Het
Acp7	G	T	7: 28,314,001 (GRCm39)	H369Q	probably benign	Het
Adgrg3	A	G	8: 95,747,702 (GRCm39)	N65S	probably benign	Het
Anln	A	G	9: 22,272,259 (GRCm39)	V620A	probably benign	Het
Atp10a	T	A	7: 58,463,366 (GRCm39)	S966R	probably benign	Het
Atp8b3	T	A	10: 80,370,017 (GRCm39)	Q132L	possibly damaging	Het
Col4a1	T	A	8: 11,285,092 (GRCm39)		probably null	Het
Ddx21	T	C	10: 62,429,871 (GRCm39)	H291R	possibly damaging	Het
Dlgap3	A	G	4: 127,088,416 (GRCm39)	Y4C	probably damaging	Het
Dnah5	A	G	15: 28,278,722 (GRCm39)	N1106D	probably benign	Het
Esyt1	T	C	10: 128,352,914 (GRCm39)	D662G	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,808 (GRCm39)	V297E	possibly damaging	Het
Faf1	T	A	4: 109,698,525 (GRCm39)	N328K	possibly damaging	Het
Gdf3	A	C	6: 122,583,859 (GRCm39)	F169L	probably benign	Het
Ifi213	G	A	1: 173,417,590 (GRCm39)	T274I	probably benign	Het
Igf2r	T	C	17: 12,914,231 (GRCm39)	D1746G	possibly damaging	Het
Ighv1-75	T	C	12: 115,797,826 (GRCm39)	K32R	probably benign	Het
Ipo8	T	A	6: 148,698,239 (GRCm39)	Q594L	probably benign	Het
Krt87	A	T	15: 101,384,890 (GRCm39)	I402N	probably benign	Het
Mmrn2	A	G	14: 34,120,372 (GRCm39)	E414G	probably damaging	Het
Myo6	A	G	9: 80,168,176 (GRCm39)	T447A	probably benign	Het
Ncoa6	T	C	2: 155,279,935 (GRCm39)	E27G	probably benign	Het
Ngly1	T	C	14: 16,283,439 (GRCm38)	L406S	possibly damaging	Het
Or14j1	T	C	17: 38,145,998 (GRCm39)	I36T	probably benign	Het
Or51l4	A	G	7: 103,404,735 (GRCm39)	I19T	probably damaging	Het
Phldb1	T	C	9: 44,629,585 (GRCm39)	Y156C	probably damaging	Het
Pkd2l1	T	A	19: 44,145,708 (GRCm39)	T172S	probably benign	Het
Pknox2	G	A	9: 36,820,987 (GRCm39)	R292*	probably null	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Polr3e	T	C	7: 120,532,600 (GRCm39)	L212P	probably damaging	Het
Ppp4r4	A	G	12: 103,547,653 (GRCm39)	I215M	possibly damaging	Het
Psmg2	T	C	18: 67,781,288 (GRCm39)	Y127H	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptp4a1	A	T	1: 30,985,213 (GRCm39)	M4K	probably benign	Het
R3hcc1l	A	T	19: 42,552,427 (GRCm39)	I475L	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rsf1	GGC	GGCGGCGGCGGC	7: 97,229,140 (GRCm39)		probably benign	Het
Sec63	T	A	10: 42,659,522 (GRCm39)	I70N	probably benign	Het
Slc2a5	A	C	4: 150,205,203 (GRCm39)	K4T	probably benign	Het
Slc4a3	A	G	1: 75,532,119 (GRCm39)	Y939C	possibly damaging	Het
Slc7a15	T	C	12: 8,579,345 (GRCm39)	*229W	probably null	Het
Slco1a6	C	A	6: 142,058,662 (GRCm39)	G206C	probably damaging	Het
Spata9	A	G	13: 76,125,895 (GRCm39)	Q126R	probably benign	Het
Speg	A	T	1: 75,383,570 (GRCm39)	D1186V	probably benign	Het
Spink5	T	G	18: 44,115,359 (GRCm39)	M197R	probably damaging	Het
Stab2	T	C	10: 86,697,363 (GRCm39)	D1975G	probably benign	Het
Syngap1	T	A	17: 27,176,385 (GRCm39)	C224*	probably null	Het
Ttn	T	C	2: 76,698,807 (GRCm39)		probably benign	Het
Txnrd1	G	A	10: 82,721,116 (GRCm39)	E397K	probably benign	Het
Ugt2b36	A	T	5: 87,237,344 (GRCm39)	M313K	probably damaging	Het
Ulk3	A	G	9: 57,497,724 (GRCm39)	I74V	possibly damaging	Het
Zcchc4	T	C	5: 52,953,573 (GRCm39)	V194A	probably damaging	Het
Zfp27	C	T	7: 29,595,792 (GRCm39)	A58T	possibly damaging	Het
Zfp398	T	G	6: 47,843,879 (GRCm39)	*512E	probably null	Het

Other mutations in Med18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02983:Med18	APN	4	132,186,997 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CCGAAACAGGTGTCCTTTGG -3'
(R):5'- CGCTGGTTTCATGACCCTAAATG -3'

Sequencing Primer
(F):5'- TGGCGACAAACTCATGGTC -3'
(R):5'- CCTAAATGAAATGAAAGCCGGGACTC -3'

Posted On

2014-12-04