Mutagenetix > Incidental Mutation

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

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00556

Quality Score

Status

Chromosome

Chromosomal Location

98042980-98084119 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 98046510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090411 (fasta)

Gene Model

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

AlphaFold

Q925J9

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
Abca12	T	C	1: 71,392,916 (GRCm39)	I108V	probably benign	Het
Atad2	A	G	15: 57,963,476 (GRCm39)	I723T	probably damaging	Het
Cct4	T	A	11: 22,947,656 (GRCm39)	V233E	possibly damaging	Het
Ces1a	A	G	8: 93,771,687 (GRCm39)	Y37H	probably benign	Het
Cgnl1	C	T	9: 71,563,338 (GRCm39)	R863Q	probably benign	Het
Dnaaf9	T	C	2: 130,626,377 (GRCm39)	D225G	probably benign	Het
Fam13b	T	C	18: 34,630,488 (GRCm39)	D90G	probably damaging	Het
Fhdc1	A	T	3: 84,364,549 (GRCm39)	D232E	possibly damaging	Het
Gm6370	A	G	5: 146,430,723 (GRCm39)	T303A	probably benign	Het
Gsdmc2	A	G	15: 63,700,120 (GRCm39)		probably benign	Het
Kif13b	T	A	14: 64,982,337 (GRCm39)	N516K	probably damaging	Het
Med4	T	C	14: 73,754,707 (GRCm39)	M190T	probably damaging	Het
Myo15b	T	C	11: 115,782,742 (GRCm39)	V1534A	possibly damaging	Het
Neb	T	C	2: 52,081,961 (GRCm39)	R1722G	probably benign	Het
Obp2b	A	T	2: 25,628,593 (GRCm39)	I116F	probably damaging	Het
Rims2	A	G	15: 39,320,070 (GRCm39)		probably null	Het
Siglecg	A	T	7: 43,061,219 (GRCm39)	I431F	probably benign	Het
Thap12	T	A	7: 98,365,344 (GRCm39)	V504D	possibly damaging	Het
Tlr7	A	C	X: 166,091,471 (GRCm39)	M5R	possibly damaging	Het
Tubgcp6	A	G	15: 88,985,165 (GRCm39)	V1641A	probably damaging	Het
Ugt2b1	T	A	5: 87,074,055 (GRCm39)	L101F	probably benign	Het
Xdh	A	T	17: 74,191,430 (GRCm39)	*1336R	probably null	Het

Other mutations in Med1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Med1	APN	11	98,060,226 (GRCm39)	missense	possibly damaging	0.94
IGL01087:Med1	APN	11	98,071,111 (GRCm39)	missense	probably damaging	1.00
IGL01133:Med1	APN	11	98,048,812 (GRCm39)	nonsense	probably null
IGL02223:Med1	APN	11	98,048,702 (GRCm39)	missense	probably damaging	1.00
IGL02257:Med1	APN	11	98,071,096 (GRCm39)	missense	probably damaging	0.98
IGL02699:Med1	APN	11	98,070,851 (GRCm39)	missense	possibly damaging	0.61
IGL02706:Med1	APN	11	98,047,533 (GRCm39)	intron	probably benign
IGL02902:Med1	APN	11	98,047,335 (GRCm39)	intron	probably benign
IGL02986:Med1	APN	11	98,047,086 (GRCm39)	intron	probably benign
IGL03011:Med1	APN	11	98,051,859 (GRCm39)	missense	possibly damaging	0.92
IGL03282:Med1	APN	11	98,047,643 (GRCm39)	missense	probably damaging	1.00
IGL03303:Med1	APN	11	98,049,178 (GRCm39)	missense	probably damaging	1.00
IGL03342:Med1	APN	11	98,080,006 (GRCm39)	critical splice donor site	probably null
IGL03410:Med1	APN	11	98,080,009 (GRCm39)	missense	possibly damaging	0.62
PIT4453001:Med1	UTSW	11	98,049,243 (GRCm39)	missense	probably benign	0.40
R0040:Med1	UTSW	11	98,057,081 (GRCm39)	critical splice donor site	probably null
R0206:Med1	UTSW	11	98,046,515 (GRCm39)	intron	probably benign
R0206:Med1	UTSW	11	98,046,515 (GRCm39)	intron	probably benign
R0208:Med1	UTSW	11	98,046,515 (GRCm39)	intron	probably benign
R0310:Med1	UTSW	11	98,058,400 (GRCm39)	missense	probably benign	0.38
R0505:Med1	UTSW	11	98,047,730 (GRCm39)	missense	probably damaging	1.00
R0597:Med1	UTSW	11	98,060,264 (GRCm39)	missense	probably benign	0.08
R0680:Med1	UTSW	11	98,070,992 (GRCm39)	splice site	probably null
R0686:Med1	UTSW	11	98,049,230 (GRCm39)	missense	probably damaging	1.00
R0698:Med1	UTSW	11	98,046,515 (GRCm39)	intron	probably benign
R1293:Med1	UTSW	11	98,047,862 (GRCm39)	missense	possibly damaging	0.93
R1302:Med1	UTSW	11	98,048,275 (GRCm39)	missense	possibly damaging	0.50
R1365:Med1	UTSW	11	98,046,821 (GRCm39)	intron	probably benign
R1537:Med1	UTSW	11	98,051,772 (GRCm39)	missense	probably damaging	0.97
R1609:Med1	UTSW	11	98,051,996 (GRCm39)	missense	possibly damaging	0.91
R1631:Med1	UTSW	11	98,046,452 (GRCm39)	intron	probably benign
R1792:Med1	UTSW	11	98,048,109 (GRCm39)	missense	probably damaging	1.00
R1831:Med1	UTSW	11	98,047,437 (GRCm39)	intron	probably benign
R1837:Med1	UTSW	11	98,060,238 (GRCm39)	missense	probably damaging	1.00
R2366:Med1	UTSW	11	98,052,008 (GRCm39)	missense	probably damaging	0.98
R3754:Med1	UTSW	11	98,057,548 (GRCm39)	missense	possibly damaging	0.77
R3762:Med1	UTSW	11	98,046,341 (GRCm39)	intron	probably benign
R4012:Med1	UTSW	11	98,062,532 (GRCm39)	missense	possibly damaging	0.85
R4112:Med1	UTSW	11	98,070,913 (GRCm39)	missense	probably damaging	1.00
R4384:Med1	UTSW	11	98,043,688 (GRCm39)	unclassified	probably benign
R4579:Med1	UTSW	11	98,049,248 (GRCm39)	missense	possibly damaging	0.56
R4740:Med1	UTSW	11	98,071,090 (GRCm39)	nonsense	probably null
R4819:Med1	UTSW	11	98,046,258 (GRCm39)	intron	probably benign
R4879:Med1	UTSW	11	98,046,186 (GRCm39)	unclassified	probably benign
R4993:Med1	UTSW	11	98,054,730 (GRCm39)	missense	probably damaging	1.00
R5040:Med1	UTSW	11	98,046,230 (GRCm39)	intron	probably benign
R5249:Med1	UTSW	11	98,048,066 (GRCm39)	missense	probably benign	0.43
R5373:Med1	UTSW	11	98,054,789 (GRCm39)	missense	probably damaging	0.99
R5374:Med1	UTSW	11	98,054,789 (GRCm39)	missense	probably damaging	0.99
R5552:Med1	UTSW	11	98,057,157 (GRCm39)	nonsense	probably null
R5692:Med1	UTSW	11	98,047,206 (GRCm39)	intron	probably benign
R6010:Med1	UTSW	11	98,049,188 (GRCm39)	missense	probably damaging	1.00
R6149:Med1	UTSW	11	98,074,679 (GRCm39)	missense	possibly damaging	0.74
R6417:Med1	UTSW	11	98,048,054 (GRCm39)	missense	probably damaging	0.97
R7301:Med1	UTSW	11	98,043,634 (GRCm39)	missense	probably benign	0.23
R7507:Med1	UTSW	11	98,048,852 (GRCm39)	missense	probably damaging	1.00
R7529:Med1	UTSW	11	98,046,791 (GRCm39)	missense	unknown
R7588:Med1	UTSW	11	98,046,398 (GRCm39)	missense	unknown
R7654:Med1	UTSW	11	98,060,189 (GRCm39)	missense	possibly damaging	0.75
R7662:Med1	UTSW	11	98,046,218 (GRCm39)	missense	unknown
R7679:Med1	UTSW	11	98,046,887 (GRCm39)	missense	unknown
R7862:Med1	UTSW	11	98,052,036 (GRCm39)	missense	probably benign	0.05
R8447:Med1	UTSW	11	98,060,240 (GRCm39)	missense	probably damaging	1.00
R8693:Med1	UTSW	11	98,046,599 (GRCm39)	missense	unknown
R8843:Med1	UTSW	11	98,080,102 (GRCm39)	missense	possibly damaging	0.88
R9072:Med1	UTSW	11	98,080,009 (GRCm39)	missense	possibly damaging	0.62
R9284:Med1	UTSW	11	98,046,366 (GRCm39)	missense	unknown
R9428:Med1	UTSW	11	98,080,049 (GRCm39)	nonsense	probably null
R9465:Med1	UTSW	11	98,049,144 (GRCm39)	missense	probably benign	0.08
R9531:Med1	UTSW	11	98,048,321 (GRCm39)	missense	probably damaging	0.96
R9537:Med1	UTSW	11	98,062,586 (GRCm39)	missense	possibly damaging	0.74
R9548:Med1	UTSW	11	98,070,884 (GRCm39)	missense	possibly damaging	0.95
R9680:Med1	UTSW	11	98,071,114 (GRCm39)	missense	probably damaging	0.99
R9696:Med1	UTSW	11	98,061,772 (GRCm39)	critical splice donor site	probably null
Z1176:Med1	UTSW	11	98,052,009 (GRCm39)	missense	possibly damaging	0.62

Posted On

2012-04-20