Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00556:Med1'

4509

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 #

IGL00556

Quality Score

Status

Chromosome

Chromosomal Location

98152154-98193293 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 98155684 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090411 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000018304
AA Change: S1414P

SMART Domains

Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: S1414P

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

unknown
Transcript: ENSMUST00000107545
AA Change: S1429P

SMART Domains

Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: S1429P

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,784,457	D225G	probably benign	Het
Abca12	T	C	1: 71,353,757	I108V	probably benign	Het
Atad2	A	G	15: 58,100,080	I723T	probably damaging	Het
Cct4	T	A	11: 22,997,656	V233E	possibly damaging	Het
Ces1a	A	G	8: 93,045,059	Y37H	probably benign	Het
Cgnl1	C	T	9: 71,656,056	R863Q	probably benign	Het
Fam13b	T	C	18: 34,497,435	D90G	probably damaging	Het
Fhdc1	A	T	3: 84,457,242	D232E	possibly damaging	Het
Gm6370	A	G	5: 146,493,913	T303A	probably benign	Het
Gsdmc2	A	G	15: 63,828,271		probably benign	Het
Kif13b	T	A	14: 64,744,888	N516K	probably damaging	Het
Med4	T	C	14: 73,517,267	M190T	probably damaging	Het
Myo15b	T	C	11: 115,891,916	V1534A	possibly damaging	Het
Neb	T	C	2: 52,191,949	R1722G	probably benign	Het
Obp2b	A	T	2: 25,738,581	I116F	probably damaging	Het
Rims2	A	G	15: 39,456,674		probably null	Het
Siglecg	A	T	7: 43,411,795	I431F	probably benign	Het
Thap12	T	A	7: 98,716,137	V504D	possibly damaging	Het
Tlr7	A	C	X: 167,308,475	M5R	possibly damaging	Het
Tubgcp6	A	G	15: 89,100,962	V1641A	probably damaging	Het
Ugt2b1	T	A	5: 86,926,196	L101F	probably benign	Het
Xdh	A	T	17: 73,884,435	*1336R	probably null	Het

Other mutations in Med1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Med1	APN	11	98169400	missense	possibly damaging	0.94
IGL01087:Med1	APN	11	98180285	missense	probably damaging	1.00
IGL01133:Med1	APN	11	98157986	nonsense	probably null
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
R7862:Med1	UTSW	11	98161210	missense	probably benign	0.05
R7945:Med1	UTSW	11	98161210	missense	probably benign	0.05
Z1176:Med1	UTSW	11	98161183	missense	possibly damaging	0.62

Posted On

2012-04-20