Mutagenetix > Incidental Mutation

Incidental Mutation 'R5692:Med1'

443741

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

043179-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5692 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98042980-98084119 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 98047206 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: H1182N

SMART Domains

Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: H1182N

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: H1197N

SMART Domains

Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: H1197N

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	G	A	9: 8,221,991 (GRCm39)		noncoding transcript	Het
Adcy10	A	G	1: 165,342,875 (GRCm39)	N247S	probably benign	Het
Ago3	T	C	4: 126,248,862 (GRCm39)		probably null	Het
Aldh16a1	A	G	7: 44,797,223 (GRCm39)	V168A	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgap26	T	A	18: 39,254,945 (GRCm39)	V274E	probably damaging	Het
Clec4d	T	C	6: 123,245,104 (GRCm39)		probably null	Het
Dennd4b	T	C	3: 90,185,090 (GRCm39)	Y1166H	probably damaging	Het
Egln3	T	C	12: 54,227,447 (GRCm39)		probably null	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fhad1	T	A	4: 141,690,768 (GRCm39)	M434L	probably benign	Het
Gfm1	T	G	3: 67,342,955 (GRCm39)	M163R	probably damaging	Het
Isg15	A	T	4: 156,284,279 (GRCm39)	L83Q	probably damaging	Het
Ly9	GCCTTTGGGGGACAATTCC	GCC	1: 171,432,755 (GRCm39)		probably null	Het
Mrc2	T	A	11: 105,227,468 (GRCm39)	V567D	probably damaging	Het
Nnmt	G	T	9: 48,514,780 (GRCm39)	T79K	probably benign	Het
Opn1sw	G	A	6: 29,379,840 (GRCm39)		probably benign	Het
Optc	G	T	1: 133,828,714 (GRCm39)		probably benign	Het
Pcdh17	C	T	14: 84,685,980 (GRCm39)	P816S	probably benign	Het
Pcdhb15	T	C	18: 37,607,502 (GRCm39)	S245P	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Sacs	T	C	14: 61,445,288 (GRCm39)	F2445L	probably benign	Het
Sel1l	T	C	12: 91,778,652 (GRCm39)	N721S	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc7a11	C	G	3: 50,326,780 (GRCm39)	V494L	probably benign	Het
Sulf2	C	A	2: 165,923,426 (GRCm39)	A598S	probably benign	Het
Tph2	A	T	10: 115,020,732 (GRCm39)	D21E	probably damaging	Het
Trf	T	C	9: 103,103,324 (GRCm39)	Y110C	possibly damaging	Het
Ttn	C	T	2: 76,628,202 (GRCm39)	E14653K	possibly damaging	Het
Vmn2r18	A	G	5: 151,485,724 (GRCm39)	I590T	possibly damaging	Het
Zfp607b	G	T	7: 27,402,889 (GRCm39)	K448N	probably benign	Het
Zfp689	T	C	7: 127,048,071 (GRCm39)		probably benign	Het
Zfp709	C	T	8: 72,643,999 (GRCm39)	P476L	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
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
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'- GGATGCTGACCCTGAAGATGAC -3'
(R):5'- ATCTGAAGGCTCATCAAGTTCC -3'

Sequencing Primer
(F):5'- GATGACTTCATACCAGAGCTTGAAC -3'
(R):5'- TCAAGTTCCAAGCTCAGTGG -3'

Posted On

2016-11-09