Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01133:Med1'

52360

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med1

Ensembl Gene

ENSMUSG00000018160

Gene Name

mediator complex subunit 1

Synonyms

Pparbp, l11Jus15, PBP, TRAP 220, CRSP210, DRIP205, TRAP220

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01133

Quality Score

Status

Chromosome

Chromosomal Location

98152154-98193293 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 98157986 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 661 (Y661*)

Ref Sequence

ENSEMBL: ENSMUSP00000103169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018304] [ENSMUST00000092735] [ENSMUST00000107545]

Predicted Effect

probably null
Transcript: ENSMUST00000018304
AA Change: Y646*

SMART Domains

Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: Y646*

Domain	Start	End	E-Value	Type
Pfam:Med1	18	414	3.7e-112	PFAM
low complexity region	536	559	N/A	INTRINSIC
low complexity region	595	619	N/A	INTRINSIC
low complexity region	667	678	N/A	INTRINSIC
low complexity region	960	981	N/A	INTRINSIC
low complexity region	989	999	N/A	INTRINSIC
low complexity region	1015	1036	N/A	INTRINSIC
low complexity region	1042	1054	N/A	INTRINSIC
low complexity region	1063	1138	N/A	INTRINSIC
low complexity region	1170	1183	N/A	INTRINSIC
low complexity region	1205	1243	N/A	INTRINSIC
low complexity region	1250	1281	N/A	INTRINSIC
low complexity region	1344	1364	N/A	INTRINSIC
low complexity region	1482	1503	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092735

SMART Domains

Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160

Domain	Start	End	E-Value	Type
Pfam:Med1	33	429	1.2e-113	PFAM
transmembrane domain	585	607	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107545
AA Change: Y661*

SMART Domains

Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: Y661*

Domain	Start	End	E-Value	Type
Pfam:Med1	59	426	2.9e-74	PFAM
low complexity region	551	574	N/A	INTRINSIC
low complexity region	610	634	N/A	INTRINSIC
low complexity region	682	693	N/A	INTRINSIC
low complexity region	975	996	N/A	INTRINSIC
low complexity region	1004	1014	N/A	INTRINSIC
low complexity region	1030	1051	N/A	INTRINSIC
low complexity region	1057	1069	N/A	INTRINSIC
low complexity region	1078	1153	N/A	INTRINSIC
low complexity region	1185	1198	N/A	INTRINSIC
low complexity region	1220	1258	N/A	INTRINSIC
low complexity region	1265	1296	N/A	INTRINSIC
low complexity region	1359	1379	N/A	INTRINSIC
low complexity region	1497	1518	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147933

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations have defects of placental vasculature, heart, and lens, arrested erythrocytic differentiation, impaired neuronal development, and die by embryonic day 11.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,595,434	D486E	probably damaging	Het
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
1700007G11Rik	T	C	5: 98,498,381		probably null	Het
Adam4	T	C	12: 81,421,446	T134A	possibly damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
BC005561	A	G	5: 104,517,662	T17A	probably benign	Het
Cartpt	T	G	13: 99,900,040	I67L	probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Ccer1	T	C	10: 97,694,539	F355L	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cfap36	A	C	11: 29,234,414	V114G	probably damaging	Het
Col4a3bp	A	G	13: 96,614,802	E320G	probably damaging	Het
Cyp2b9	G	A	7: 26,210,235	G476D	probably damaging	Het
Eif3l	T	C	15: 79,076,920	Y58H	possibly damaging	Het
Gapvd1	T	C	2: 34,725,398	Y411C	probably damaging	Het
Gm27029	G	T	11: 101,411,960	F236L	possibly damaging	Het
Golga1	T	C	2: 39,023,472	T501A	probably benign	Het
Heg1	C	T	16: 33,727,287	H815Y	probably benign	Het
Krt1	A	T	15: 101,848,193	D298E	probably damaging	Het
Mecr	T	A	4: 131,843,596	S32T	probably benign	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Pla2g12b	G	T	10: 59,416,417	A37S	probably benign	Het
Plekha7	G	T	7: 116,145,241		probably null	Het
Ralgapa1	T	C	12: 55,642,348	I1989V	probably damaging	Het
Ralgapa1	T	C	12: 55,642,359	H1938R	probably damaging	Het
Sec31b	A	G	19: 44,527,041	F309S	probably damaging	Het
Serpina3a	T	C	12: 104,121,499	I227T	probably benign	Het
Slc1a3	A	G	15: 8,645,687	I278T	probably damaging	Het
Slc1a3	T	C	15: 8,650,993	Y127C	probably damaging	Het
Spen	T	C	4: 141,489,901	K449R	unknown	Het
Tmem130	A	G	5: 144,752,445	S129P	probably damaging	Het
Trim68	A	T	7: 102,679,141		probably null	Het
Vdac3-ps1	T	C	13: 18,031,449		noncoding transcript	Het
Vmn2r75	A	G	7: 86,148,032		probably benign	Het
Zbtb9	G	T	17: 26,975,011		probably benign	Het
Zfp568	T	A	7: 29,987,808		probably null	Het

Other mutations in Med1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Med1	APN	11	98155684	intron	probably benign
IGL00690:Med1	APN	11	98169400	missense	possibly damaging	0.94
IGL01087:Med1	APN	11	98180285	missense	probably damaging	1.00
IGL02223:Med1	APN	11	98157876	missense	probably damaging	1.00
IGL02257:Med1	APN	11	98180270	missense	probably damaging	0.98
IGL02699:Med1	APN	11	98180025	missense	possibly damaging	0.61
IGL02706:Med1	APN	11	98156707	intron	probably benign
IGL02902:Med1	APN	11	98156509	intron	probably benign
IGL02986:Med1	APN	11	98156260	intron	probably benign
IGL03011:Med1	APN	11	98161033	missense	possibly damaging	0.92
IGL03282:Med1	APN	11	98156817	missense	probably damaging	1.00
IGL03303:Med1	APN	11	98158352	missense	probably damaging	1.00
IGL03342:Med1	APN	11	98189180	critical splice donor site	probably null
IGL03410:Med1	APN	11	98189183	missense	possibly damaging	0.62
PIT4453001:Med1	UTSW	11	98158417	missense	probably benign	0.40
R0040:Med1	UTSW	11	98166255	critical splice donor site	probably null
R0206:Med1	UTSW	11	98155689	intron	probably benign
R0206:Med1	UTSW	11	98155689	intron	probably benign
R0208:Med1	UTSW	11	98155689	intron	probably benign
R0310:Med1	UTSW	11	98167574	missense	probably benign	0.38
R0505:Med1	UTSW	11	98156904	missense	probably damaging	1.00
R0597:Med1	UTSW	11	98169438	missense	probably benign	0.08
R0680:Med1	UTSW	11	98180166	intron	probably null
R0686:Med1	UTSW	11	98158404	missense	probably damaging	1.00
R0698:Med1	UTSW	11	98155689	intron	probably benign
R1293:Med1	UTSW	11	98157036	missense	possibly damaging	0.93
R1302:Med1	UTSW	11	98157449	missense	possibly damaging	0.50
R1365:Med1	UTSW	11	98155995	intron	probably benign
R1537:Med1	UTSW	11	98160946	missense	probably damaging	0.97
R1609:Med1	UTSW	11	98161170	missense	possibly damaging	0.91
R1631:Med1	UTSW	11	98155626	intron	probably benign
R1792:Med1	UTSW	11	98157283	missense	probably damaging	1.00
R1831:Med1	UTSW	11	98156611	intron	probably benign
R1837:Med1	UTSW	11	98169412	missense	probably damaging	1.00
R2366:Med1	UTSW	11	98161182	missense	probably damaging	0.98
R3754:Med1	UTSW	11	98166722	missense	possibly damaging	0.77
R3762:Med1	UTSW	11	98155515	intron	probably benign
R4012:Med1	UTSW	11	98171706	missense	possibly damaging	0.85
R4112:Med1	UTSW	11	98180087	missense	probably damaging	1.00
R4384:Med1	UTSW	11	98152862	unclassified	probably benign
R4579:Med1	UTSW	11	98158422	missense	possibly damaging	0.56
R4740:Med1	UTSW	11	98180264	nonsense	probably null
R4819:Med1	UTSW	11	98155432	intron	probably benign
R4879:Med1	UTSW	11	98155360	unclassified	probably benign
R4993:Med1	UTSW	11	98163904	missense	probably damaging	1.00
R5040:Med1	UTSW	11	98155404	intron	probably benign
R5249:Med1	UTSW	11	98157240	missense	probably benign	0.43
R5373:Med1	UTSW	11	98163963	missense	probably damaging	0.99
R5374:Med1	UTSW	11	98163963	missense	probably damaging	0.99
R5552:Med1	UTSW	11	98166331	nonsense	probably null
R5692:Med1	UTSW	11	98156380	intron	probably benign
R6010:Med1	UTSW	11	98158362	missense	probably damaging	1.00
R6149:Med1	UTSW	11	98183853	missense	possibly damaging	0.74
R6417:Med1	UTSW	11	98157228	missense	probably damaging	0.97
R7301:Med1	UTSW	11	98152808	missense	probably benign	0.23
R7507:Med1	UTSW	11	98158026	missense	probably damaging	1.00
R7529:Med1	UTSW	11	98155965	missense	unknown
R7588:Med1	UTSW	11	98155572	missense	unknown
R7654:Med1	UTSW	11	98169363	missense	possibly damaging	0.75
R7662:Med1	UTSW	11	98155392	missense	unknown
R7679:Med1	UTSW	11	98156061	missense	unknown

Posted On

2013-06-21