Mutagenetix > Incidental Mutation

Incidental Mutation 'R0698:Med1'

62922

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

038882-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0698 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

98042980-98084119 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 98046515 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: I1412T

SMART Domains

Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: I1412T

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: I1427T

SMART Domains

Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: I1427T

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

Meta Mutation Damage Score

0.0730

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	C	T	16: 35,110,452 (GRCm39)	T873M	possibly damaging	Het
Ap4e1	G	A	2: 126,905,283 (GRCm39)	E985K	probably benign	Het
Arhgap18	T	C	10: 26,788,625 (GRCm39)	I579T	probably damaging	Het
Arhgef11	G	T	3: 87,640,766 (GRCm39)	A1308S	probably benign	Het
Arhgef5	A	G	6: 43,250,275 (GRCm39)	E342G	probably damaging	Het
Atm	T	C	9: 53,426,539 (GRCm39)	E573G	probably damaging	Het
Baz1b	T	C	5: 135,227,075 (GRCm39)	V92A	probably damaging	Het
Cmya5	A	G	13: 93,232,065 (GRCm39)	S1008P	probably damaging	Het
Col6a1	A	G	10: 76,552,114 (GRCm39)	V459A	unknown	Het
Cpne4	T	C	9: 104,802,994 (GRCm39)	S213P	probably damaging	Het
Dock10	T	A	1: 80,507,895 (GRCm39)	Q1672L	probably damaging	Het
Grm8	C	T	6: 27,363,913 (GRCm39)	C534Y	probably damaging	Het
Ints7	A	G	1: 191,326,576 (GRCm39)	M183V	probably damaging	Het
Invs	T	G	4: 48,396,364 (GRCm39)	S346A	probably benign	Het
Krtap9-3	C	A	11: 99,488,663 (GRCm39)	C73F	probably damaging	Het
Lrrtm4	T	C	6: 79,999,911 (GRCm39)	L441P	probably damaging	Het
Map4	C	T	9: 109,897,856 (GRCm39)	R81*	probably null	Het
Necab1	T	C	4: 15,005,041 (GRCm39)	N141S	probably benign	Het
Or1d2	A	T	11: 74,255,968 (GRCm39)	I158F	probably benign	Het
Pcdhb2	A	T	18: 37,430,419 (GRCm39)	E797D	probably benign	Het
Pclo	T	C	5: 14,762,530 (GRCm39)	Y3668H	unknown	Het
Peg10	T	A	6: 4,756,835 (GRCm39)		probably benign	Het
Psd2	A	G	18: 36,145,764 (GRCm39)	I723V	probably benign	Het
Ptprn2	C	T	12: 116,685,750 (GRCm39)	R70*	probably null	Het
R3hdm1	A	G	1: 128,109,476 (GRCm39)	Y309C	probably damaging	Het
Rab13	C	T	3: 90,132,043 (GRCm39)	T69M	probably damaging	Het
Rpl32	T	C	6: 115,782,551 (GRCm39)	N126S	probably benign	Het
Sis	C	A	3: 72,817,831 (GRCm39)	A1461S	probably damaging	Het
Slc2a13	T	C	15: 91,205,870 (GRCm39)	D439G	probably benign	Het
Spta1	T	C	1: 174,008,670 (GRCm39)	L258P	probably damaging	Het
Synj1	T	C	16: 90,757,503 (GRCm39)	T882A	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tada3	A	T	6: 113,343,968 (GRCm39)	L227Q	probably damaging	Het
Tet2	A	T	3: 133,173,145 (GRCm39)	S1706T	probably benign	Het
Ttc6	G	A	12: 57,720,002 (GRCm39)	V858I	probably benign	Het
Tut4	T	A	4: 108,412,730 (GRCm39)	M1477K	probably benign	Het
Vps13c	C	A	9: 67,797,005 (GRCm39)	A464E	probably benign	Het
Zbtb17	T	C	4: 141,193,407 (GRCm39)		probably null	Het
Zcwpw1	G	A	5: 137,815,783 (GRCm39)	E429K	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ATACCATCCTCTGAGCTGGGACTG -3'
(R):5'- GGGCGCAAGCACAAATTCTTCTAAC -3'

Sequencing Primer
(F):5'- GACTGTTCTGGTAGGATCTCTC -3'
(R):5'- GACAAATCCAAGGTCTCTGCTTC -3'

Posted On

2013-07-30