Mutagenetix > Incidental Mutation

Incidental Mutation 'R5552:Med1'

435188

Institutional Source

Beutler Lab

Gene Symbol

Med1

Ensembl Gene

ENSMUSG00000018160

Gene Name

mediator complex subunit 1

Synonyms

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

MMRRC Submission

043109-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5552 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98042980-98084119 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 98057157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 340 (Y340*)

Ref Sequence

ENSEMBL: ENSMUSP00000103169 (fasta)

Gene Model

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

AlphaFold

Q925J9

Predicted Effect

probably null
Transcript: ENSMUST00000018304
AA Change: Y325*

SMART Domains

Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: Y325*

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 null
Transcript: ENSMUST00000092735
AA Change: Y340*

SMART Domains

Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160
AA Change: Y340*

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: Y340*

SMART Domains

Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: Y340*

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: ENSMUST00000129557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135479

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

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
Abtb1	A	G	6: 88,813,530 (GRCm39)	Y403H	probably benign	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Arhgap19	T	C	19: 41,772,819 (GRCm39)	I291M	probably benign	Het
Blzf1	A	T	1: 164,130,058 (GRCm39)	I91N	probably damaging	Het
Cdh2	T	C	18: 16,773,520 (GRCm39)	T270A	possibly damaging	Het
Chd5	T	A	4: 152,470,272 (GRCm39)	M1906K	possibly damaging	Het
Cpsf1	T	C	15: 76,483,846 (GRCm39)	D799G	probably benign	Het
Csnk1g3	T	C	18: 54,065,355 (GRCm39)	F313L	probably benign	Het
Cyfip1	T	C	7: 55,521,855 (GRCm39)	V53A	possibly damaging	Het
Dcst1	T	C	3: 89,272,373 (GRCm39)	D30G	probably benign	Het
Dlgap2	G	T	8: 14,881,342 (GRCm39)	G805*	probably null	Het
Dot1l	CCAGCCCCACCCTCAGCC	CCAGCC	10: 80,619,462 (GRCm39)		probably benign	Het
Epha8	T	C	4: 136,659,210 (GRCm39)	N843S	probably damaging	Het
Evi5	A	T	5: 107,966,855 (GRCm39)	V222E	probably damaging	Het
Gli1	C	A	10: 127,166,131 (GRCm39)	A1041S	probably benign	Het
Glipr1l1	A	T	10: 111,898,243 (GRCm39)	Q116L	probably benign	Het
H3c4	A	G	13: 23,760,295 (GRCm39)	D107G	probably damaging	Het
Hectd4	T	A	5: 121,480,914 (GRCm39)	L2985Q	possibly damaging	Het
Hk2	G	T	6: 82,707,804 (GRCm39)	R694S	possibly damaging	Het
Htt	A	G	5: 34,979,118 (GRCm39)	M834V	probably benign	Het
Itpr2	A	G	6: 146,195,578 (GRCm39)	Y1600H	probably benign	Het
Mov10l1	T	A	15: 88,938,569 (GRCm39)		probably null	Het
Mrc1	T	C	2: 14,284,768 (GRCm39)	F586L	probably benign	Het
Mrrf	T	A	2: 36,037,973 (GRCm39)	D81E	possibly damaging	Het
Nod1	A	G	6: 54,921,616 (GRCm39)	F234S	probably damaging	Het
Odad2	A	G	18: 7,285,360 (GRCm39)	V267A	possibly damaging	Het
Or10ak9	T	A	4: 118,726,665 (GRCm39)	I228N	probably damaging	Het
Or6c69c	T	C	10: 129,911,014 (GRCm39)	V245A	probably damaging	Het
Pde4a	T	C	9: 21,112,682 (GRCm39)	V343A	probably damaging	Het
Pmfbp1	T	A	8: 110,258,383 (GRCm39)	L649Q	probably damaging	Het
Polq	A	G	16: 36,914,872 (GRCm39)	I2511V	possibly damaging	Het
Pramel51	T	A	12: 88,145,135 (GRCm39)	T64S	probably benign	Het
Serac1	T	A	17: 6,106,967 (GRCm39)	R361*	probably null	Het
Serpina3g	T	C	12: 104,206,595 (GRCm39)	V132A	probably damaging	Het
Thada	A	C	17: 84,736,558 (GRCm39)	S908A	probably benign	Het
Zfp280b	C	T	10: 75,875,497 (GRCm39)	Q459*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGCCCAACTGAGGATGATGTAG -3'
(R):5'- AGAAGTGCTGCTGAGTACAG -3'

Sequencing Primer
(F):5'- CCCAACTGAGGATGATGTAGCAATC -3'
(R):5'- CTGAGTACAGCTTTTAGGAAAGTAC -3'

Posted On

2016-10-24