Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02699:Med1'

304064

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 #

IGL02699

Quality Score

Status

Chromosome

Chromosomal Location

98042980-98084119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98070851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 131 (N131D)

Ref Sequence

ENSEMBL: ENSMUSP00000090411 (fasta)

Gene Model

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

AlphaFold

Q925J9

Predicted Effect

probably benign
Transcript: ENSMUST00000018304
AA Change: N116D

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: N116D

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

possibly damaging
Transcript: ENSMUST00000092735
AA Change: N131D

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160
AA Change: N131D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107545
AA Change: N131D

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: N131D

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: ENSMUST00000129557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135479

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,157,853 (GRCm39)	D198G	probably benign	Het
Casq1	T	C	1: 172,047,263 (GRCm39)		probably benign	Het
Cd109	T	A	9: 78,579,271 (GRCm39)		probably benign	Het
Col15a1	T	G	4: 47,284,471 (GRCm39)		probably benign	Het
Ctdp1	T	C	18: 80,493,400 (GRCm39)	D365G	probably benign	Het
Daam1	T	C	12: 72,035,717 (GRCm39)	F971L	probably damaging	Het
Dalrd3	T	A	9: 108,448,088 (GRCm39)		probably benign	Het
Dnaaf5	T	C	5: 139,139,105 (GRCm39)		probably benign	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fbxo8	A	G	8: 57,043,223 (GRCm39)	T236A	possibly damaging	Het
Ighv1-12	C	A	12: 114,579,736 (GRCm39)	E29*	probably null	Het
Il17re	A	G	6: 113,445,880 (GRCm39)	D397G	probably damaging	Het
Ing5	A	G	1: 93,744,164 (GRCm39)	N157D	possibly damaging	Het
Ipo11	T	C	13: 107,025,905 (GRCm39)	E395G	possibly damaging	Het
Letm1	T	C	5: 33,902,492 (GRCm39)	E599G	possibly damaging	Het
Mansc1	T	C	6: 134,587,317 (GRCm39)	T287A	probably benign	Het
Or10ak13	G	T	4: 118,639,349 (GRCm39)	C144*	probably null	Het
Or13p3	T	C	4: 118,567,395 (GRCm39)	S264P	probably benign	Het
Or6c2b	T	G	10: 128,947,640 (GRCm39)	Y218S	probably benign	Het
Or8k38	A	T	2: 86,488,691 (GRCm39)	I37N	probably benign	Het
Osm	T	C	11: 4,189,723 (GRCm39)	V169A	possibly damaging	Het
Phkg2	C	T	7: 127,181,722 (GRCm39)	A278V	probably benign	Het
Plod2	T	A	9: 92,489,195 (GRCm39)	M709K	probably damaging	Het
Pzp	A	T	6: 128,464,364 (GRCm39)		probably null	Het
Ric1	T	C	19: 29,499,957 (GRCm39)	L12P	possibly damaging	Het
Skor1	C	A	9: 63,047,328 (GRCm39)		probably benign	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Syncrip	A	G	9: 88,338,607 (GRCm39)		probably benign	Het
Tex2	T	C	11: 106,459,259 (GRCm39)	E57G	possibly damaging	Het
Tmc1	C	T	19: 20,809,714 (GRCm39)		probably null	Het
Tmem59	T	C	4: 107,049,735 (GRCm39)	M140T	probably benign	Het
Ttn	T	C	2: 76,774,433 (GRCm39)	T2158A	probably damaging	Het

Other mutations in Med1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Med1	APN	11	98,046,510 (GRCm39)	intron	probably benign
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
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

2015-04-16