Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01304:Med18'

73352

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med18

Ensembl Gene

ENSMUSG00000066042

Gene Name

mediator complex subunit 18

Synonyms

2810046C01Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

IGL01304

Quality Score

Status

Chromosome

Chromosomal Location

132186042-132191232 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 132186930 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q9CZ82

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

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 benign
Transcript: ENSMUST00000123604

SMART Domains

Protein: ENSMUSP00000120535
Gene: ENSMUSG00000066042

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,204,153 (GRCm39)	D79E	probably benign	Het
Aplf	A	C	6: 87,618,882 (GRCm39)	S421A	possibly damaging	Het
Arnt	T	G	3: 95,355,696 (GRCm39)	D13E	probably damaging	Het
Asap1	T	C	15: 64,184,298 (GRCm39)	E45G	probably damaging	Het
C2cd2l	T	C	9: 44,230,884 (GRCm39)	N101S	probably damaging	Het
Cby2	T	A	14: 75,830,085 (GRCm39)	D36V	possibly damaging	Het
Chmp7	G	A	14: 69,956,062 (GRCm39)	P402L	probably benign	Het
Cir1	A	T	2: 73,118,068 (GRCm39)		probably null	Het
Clock	A	G	5: 76,414,202 (GRCm39)		probably null	Het
Col18a1	T	G	10: 76,911,975 (GRCm39)		probably benign	Het
Csf2ra	G	A	19: 61,215,271 (GRCm39)	H115Y	possibly damaging	Het
Cspg5	T	A	9: 110,085,236 (GRCm39)	L469H	probably damaging	Het
Dapk2	T	C	9: 66,139,139 (GRCm39)		probably benign	Het
F13a1	T	C	13: 37,172,852 (GRCm39)	D176G	probably benign	Het
Fbn2	T	C	18: 58,194,817 (GRCm39)	E1448G	probably damaging	Het
Gtf2b	C	T	3: 142,487,359 (GRCm39)	S265L	probably benign	Het
Hmcn1	C	T	1: 150,498,675 (GRCm39)	G4068D	probably damaging	Het
Krt81	G	A	15: 101,361,269 (GRCm39)	H104Y	probably benign	Het
Ksr1	T	C	11: 78,918,468 (GRCm39)	Q562R	probably damaging	Het
Lrif1	C	T	3: 106,639,049 (GRCm39)	P20S	probably damaging	Het
Mamdc4	T	C	2: 25,453,588 (GRCm39)	T1194A	possibly damaging	Het
Mia2	G	A	12: 59,151,324 (GRCm39)	E105K	probably damaging	Het
Mnt	T	A	11: 74,733,011 (GRCm39)	Y48N	probably damaging	Het
Mpp4	A	C	1: 59,188,678 (GRCm39)		probably null	Het
Or4b1b	G	A	2: 90,112,425 (GRCm39)	P165S	possibly damaging	Het
Popdc3	T	G	10: 45,194,005 (GRCm39)	S269A	probably benign	Het
Ppp6r3	A	T	19: 3,517,261 (GRCm39)	M662K	probably damaging	Het
Qser1	C	A	2: 104,617,976 (GRCm39)	Q945H	probably damaging	Het
Rad52	A	G	6: 119,895,594 (GRCm39)	E198G	probably damaging	Het
Ranbp17	A	G	11: 33,216,147 (GRCm39)	V867A	possibly damaging	Het
Rdh16	G	T	10: 127,649,365 (GRCm39)	A274S	probably benign	Het
Slco1a5	G	T	6: 142,187,876 (GRCm39)	Q488K	probably benign	Het
Snai2	T	C	16: 14,524,635 (GRCm39)	I47T	probably benign	Het
Snw1	T	C	12: 87,500,685 (GRCm39)	D358G	possibly damaging	Het
Speg	T	C	1: 75,404,841 (GRCm39)	F2878L	probably benign	Het
Spg11	T	C	2: 121,902,771 (GRCm39)	Y1386C	probably damaging	Het
Tgfb2	A	C	1: 186,357,670 (GRCm39)	I435S	probably damaging	Het
Ttc9b	G	A	7: 27,355,410 (GRCm39)	D227N	probably benign	Het
Txndc2	T	C	17: 65,945,448 (GRCm39)	E243G	possibly damaging	Het
Usp28	A	G	9: 48,938,119 (GRCm39)	D563G	probably damaging	Het
Vmn1r77	T	C	7: 11,775,962 (GRCm39)	V178A	probably damaging	Het
Zfp316	A	G	5: 143,240,181 (GRCm39)	F613L	probably benign	Het
Zfp870	A	T	17: 33,101,980 (GRCm39)	C450S	possibly damaging	Het

Other mutations in Med18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2696:Med18	UTSW	4	132,187,281 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-10-07