Mutagenetix > Incidental Mutation

Incidental Mutation 'R0505:Med1'

47500

Institutional Source

Beutler Lab

Gene Symbol

Med1

Ensembl Gene

ENSMUSG00000018160

Gene Name

mediator complex subunit 1

Synonyms

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

MMRRC Submission

038700-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0505 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98152154-98193293 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98156904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1022 (P1022L)

Ref Sequence

ENSEMBL: ENSMUSP00000103169 (fasta)

Gene Model

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

AlphaFold

Q925J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000018304
AA Change: P1007L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: P1007L

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

probably damaging
Transcript: ENSMUST00000107545
AA Change: P1022L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: P1022L

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

0.1462

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (119/121)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,291,058	Y974H	probably benign	Het
Abca2	G	T	2: 25,434,894	G300V	probably benign	Het
Abi1	A	G	2: 22,962,504		probably benign	Het
Actr10	T	A	12: 70,959,964	Y332N	probably damaging	Het
Adam25	G	T	8: 40,755,224	C509F	probably damaging	Het
Adck1	A	T	12: 88,371,691		probably benign	Het
Adgra3	A	G	5: 50,009,334		probably null	Het
Adgrl1	G	T	8: 83,934,650		probably benign	Het
Akr1c21	A	G	13: 4,576,307	Y110C	probably damaging	Het
Arhgef25	T	C	10: 127,183,697	I463V	probably null	Het
Atp6v1e2	C	T	17: 86,944,578	V131M	probably benign	Het
Bdnf	A	G	2: 109,675,343		probably null	Het
C7	A	T	15: 4,994,142		probably benign	Het
Cdc27	T	C	11: 104,528,288	T273A	probably benign	Het
Cdo1	T	A	18: 46,715,611	I187F	probably benign	Het
Cep104	A	T	4: 153,996,304	T742S	probably benign	Het
Ckm	A	T	7: 19,419,452	K223*	probably null	Het
Cmtr1	C	T	17: 29,676,285	P586L	probably benign	Het
Csmd1	C	T	8: 15,992,758	R2325Q	probably damaging	Het
Dcpp1	A	T	17: 23,882,594	I106L	possibly damaging	Het
Diaph3	A	C	14: 87,090,964		probably benign	Het
Dnah11	A	G	12: 118,106,510	V1520A	probably damaging	Het
Dnajc25	T	A	4: 59,020,438	M168K		Het
Dpp3	T	C	19: 4,914,654	N542D	probably damaging	Het
Ebf2	A	T	14: 67,371,736	K199*	probably null	Het
Efcab11	T	A	12: 99,719,035	Q160L	probably benign	Het
Eif2ak4	T	A	2: 118,431,036	S686T	probably benign	Het
Epha6	C	T	16: 60,205,732	S449N	possibly damaging	Het
Ercc4	T	C	16: 13,126,467	V329A	probably benign	Het
Faf1	T	C	4: 109,840,403	F309L	possibly damaging	Het
Fam102b	T	C	3: 108,980,204	E248G	probably benign	Het
G6pd2	C	A	5: 61,809,567	D228E	probably benign	Het
Ggt1	T	G	10: 75,585,957	V546G	probably damaging	Het
Gm14139	T	A	2: 150,193,080	C471*	probably null	Het
Gpatch4	G	T	3: 88,051,217	V3F	probably damaging	Het
Gprin3	A	G	6: 59,353,387	L645P	probably damaging	Het
Hyal2	A	G	9: 107,572,071	Y342C	probably benign	Het
Igf2bp2	A	G	16: 22,089,099	I16T	possibly damaging	Het
Inca1	T	C	11: 70,690,199	Y61C	probably damaging	Het
Ipo5	T	C	14: 120,942,733	W860R	possibly damaging	Het
Kcnj9	C	T	1: 172,323,024	A341T	probably benign	Het
Kdm5b	T	C	1: 134,602,571	V440A	probably damaging	Het
L3mbtl1	C	T	2: 162,947,335		probably benign	Het
Lin54	G	A	5: 100,452,293	T307I	probably damaging	Het
Lrrc18	C	A	14: 33,009,139	Q212K	probably benign	Het
Lrrc37a	A	G	11: 103,503,025	S525P	probably benign	Het
Lrrc71	T	A	3: 87,745,699	S137C	probably damaging	Het
Lrrk1	A	T	7: 66,290,908		probably null	Het
Man2b2	G	A	5: 36,816,198	S58L	probably benign	Het
Masp1	T	A	16: 23,458,138	H539L	probably benign	Het
Meis1	T	A	11: 19,011,360	H171L	probably damaging	Het
Mier1	T	A	4: 103,155,623		probably benign	Het
Mkl2	C	T	16: 13,412,526	T1025I	possibly damaging	Het
Mmp13	A	T	9: 7,272,929	R96S	probably damaging	Het
Mms19	G	A	19: 41,953,734	T38I	probably damaging	Het
Mrc1	G	A	2: 14,310,032	C976Y	probably damaging	Het
Naalad2	A	G	9: 18,385,895	Y32H	probably benign	Het
Ndufs1	A	G	1: 63,143,926		probably benign	Het
Nefm	C	T	14: 68,124,159	D219N	probably damaging	Het
Nwd1	C	T	8: 72,662,337	P172L	probably damaging	Het
Nwd2	T	A	5: 63,805,111	D679E	probably damaging	Het
Ogdh	T	A	11: 6,339,936		probably benign	Het
Olfm3	T	A	3: 115,122,681	S421T	possibly damaging	Het
Olfr1281	A	T	2: 111,329,328	N303I	probably benign	Het
Olfr1445	A	G	19: 12,884,546	T222A	probably damaging	Het
Olfr1445	T	C	19: 12,884,079	L66P	probably damaging	Het
Olfr559	T	A	7: 102,724,029	I154F	probably damaging	Het
Olfr628	T	C	7: 103,732,376	V150A	probably benign	Het
Olfr988	A	G	2: 85,353,749	M59T	possibly damaging	Het
Opn5	T	G	17: 42,592,953	T164P	possibly damaging	Het
Pde7b	C	T	10: 20,438,746	V166M	probably damaging	Het
Pik3ap1	T	C	19: 41,324,564	N370S	probably damaging	Het
Pkhd1l1	A	T	15: 44,589,418	D3913V	probably damaging	Het
Pld1	A	G	3: 28,120,822	I90V	possibly damaging	Het
Plxna2	A	G	1: 194,644,348	T197A	possibly damaging	Het
Plxna4	A	T	6: 32,202,119	M987K	probably benign	Het
Pmch	A	G	10: 88,091,359	N75D	probably benign	Het
Prom2	T	A	2: 127,532,867	Q583L	possibly damaging	Het
Pyroxd1	T	A	6: 142,353,562	M148K	possibly damaging	Het
R3hdm2	C	T	10: 127,457,700	L158F	probably damaging	Het
Rapgef6	A	T	11: 54,625,963	T349S	probably benign	Het
Rfx5	C	T	3: 94,956,355	T105I	probably damaging	Het
Rif1	C	A	2: 52,110,737	P1401Q	probably damaging	Het
Robo3	G	A	9: 37,416,759		probably benign	Het
Rpn1	T	A	6: 88,090,242	S195T	probably benign	Het
Rslcan18	C	A	13: 67,102,119	K17N	probably benign	Het
Rsph3b	A	T	17: 6,941,727	I48N	probably damaging	Het
Sbf2	A	T	7: 110,399,343	Y628N	probably damaging	Het
Sis	T	C	3: 72,960,296	T139A	probably benign	Het
Slc22a14	A	G	9: 119,172,034		probably benign	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Smarcb1	T	C	10: 75,897,066	T372A	probably damaging	Het
Spidr	T	A	16: 16,037,667	H328L	probably damaging	Het
Sun5	T	A	2: 153,870,952	D16V	probably damaging	Het
Syde2	G	A	3: 146,014,380	E1053K	possibly damaging	Het
Syne2	T	C	12: 76,099,464	S6419P	probably damaging	Het
Tenm3	G	A	8: 48,341,160		probably benign	Het
Timm44	C	A	8: 4,260,532	E407*	probably null	Het
Tmem189	A	T	2: 167,644,987		probably benign	Het
Tnpo2	A	G	8: 85,047,362	T342A	probably benign	Het
Trio	A	G	15: 27,767,907	C1964R	probably benign	Het
Trip11	A	C	12: 101,885,672	L711R	probably damaging	Het
Trp53bp1	A	T	2: 121,269,969	H101Q	probably damaging	Het
Trpm6	A	G	19: 18,873,902		probably benign	Het
Ttn	A	T	2: 76,849,991		probably benign	Het
Ucp1	T	A	8: 83,295,307	M256K	possibly damaging	Het
Uhrf1bp1l	T	C	10: 89,791,443	S145P	probably damaging	Het
Unc5a	T	A	13: 55,004,954	S838T	probably damaging	Het
Uxs1	T	C	1: 43,764,886		probably null	Het
Vmn2r108	A	T	17: 20,462,834	C703S	possibly damaging	Het
Zc3hav1	C	T	6: 38,332,664	G408R	probably damaging	Het
Zfp609	G	A	9: 65,703,462	L740F	possibly damaging	Het
Zfp69	T	C	4: 120,931,095	E341G	probably damaging	Het
Zfp707	A	T	15: 75,975,256	H312L	probably damaging	Het
Zfp773	T	C	7: 7,133,024	D191G	probably benign	Het
Zgrf1	C	A	3: 127,573,238	D755E	probably benign	Het
Zscan5b	T	A	7: 6,239,075	I431N	probably damaging	Het

Other mutations in Med1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Med1	APN	11	98,155,684 (GRCm38)	intron	probably benign
IGL00690:Med1	APN	11	98,169,400 (GRCm38)	missense	possibly damaging	0.94
IGL01087:Med1	APN	11	98,180,285 (GRCm38)	missense	probably damaging	1.00
IGL01133:Med1	APN	11	98,157,986 (GRCm38)	nonsense	probably null
IGL02223:Med1	APN	11	98,157,876 (GRCm38)	missense	probably damaging	1.00
IGL02257:Med1	APN	11	98,180,270 (GRCm38)	missense	probably damaging	0.98
IGL02699:Med1	APN	11	98,180,025 (GRCm38)	missense	possibly damaging	0.61
IGL02706:Med1	APN	11	98,156,707 (GRCm38)	intron	probably benign
IGL02902:Med1	APN	11	98,156,509 (GRCm38)	intron	probably benign
IGL02986:Med1	APN	11	98,156,260 (GRCm38)	intron	probably benign
IGL03011:Med1	APN	11	98,161,033 (GRCm38)	missense	possibly damaging	0.92
IGL03282:Med1	APN	11	98,156,817 (GRCm38)	missense	probably damaging	1.00
IGL03303:Med1	APN	11	98,158,352 (GRCm38)	missense	probably damaging	1.00
IGL03342:Med1	APN	11	98,189,180 (GRCm38)	critical splice donor site	probably null
IGL03410:Med1	APN	11	98,189,183 (GRCm38)	missense	possibly damaging	0.62
PIT4453001:Med1	UTSW	11	98,158,417 (GRCm38)	missense	probably benign	0.40
R0040:Med1	UTSW	11	98,166,255 (GRCm38)	critical splice donor site	probably null
R0206:Med1	UTSW	11	98,155,689 (GRCm38)	intron	probably benign
R0206:Med1	UTSW	11	98,155,689 (GRCm38)	intron	probably benign
R0208:Med1	UTSW	11	98,155,689 (GRCm38)	intron	probably benign
R0310:Med1	UTSW	11	98,167,574 (GRCm38)	missense	probably benign	0.38
R0597:Med1	UTSW	11	98,169,438 (GRCm38)	missense	probably benign	0.08
R0680:Med1	UTSW	11	98,180,166 (GRCm38)	splice site	probably null
R0686:Med1	UTSW	11	98,158,404 (GRCm38)	missense	probably damaging	1.00
R0698:Med1	UTSW	11	98,155,689 (GRCm38)	intron	probably benign
R1293:Med1	UTSW	11	98,157,036 (GRCm38)	missense	possibly damaging	0.93
R1302:Med1	UTSW	11	98,157,449 (GRCm38)	missense	possibly damaging	0.50
R1365:Med1	UTSW	11	98,155,995 (GRCm38)	intron	probably benign
R1537:Med1	UTSW	11	98,160,946 (GRCm38)	missense	probably damaging	0.97
R1609:Med1	UTSW	11	98,161,170 (GRCm38)	missense	possibly damaging	0.91
R1631:Med1	UTSW	11	98,155,626 (GRCm38)	intron	probably benign
R1792:Med1	UTSW	11	98,157,283 (GRCm38)	missense	probably damaging	1.00
R1831:Med1	UTSW	11	98,156,611 (GRCm38)	intron	probably benign
R1837:Med1	UTSW	11	98,169,412 (GRCm38)	missense	probably damaging	1.00
R2366:Med1	UTSW	11	98,161,182 (GRCm38)	missense	probably damaging	0.98
R3754:Med1	UTSW	11	98,166,722 (GRCm38)	missense	possibly damaging	0.77
R3762:Med1	UTSW	11	98,155,515 (GRCm38)	intron	probably benign
R4012:Med1	UTSW	11	98,171,706 (GRCm38)	missense	possibly damaging	0.85
R4112:Med1	UTSW	11	98,180,087 (GRCm38)	missense	probably damaging	1.00
R4384:Med1	UTSW	11	98,152,862 (GRCm38)	unclassified	probably benign
R4579:Med1	UTSW	11	98,158,422 (GRCm38)	missense	possibly damaging	0.56
R4740:Med1	UTSW	11	98,180,264 (GRCm38)	nonsense	probably null
R4819:Med1	UTSW	11	98,155,432 (GRCm38)	intron	probably benign
R4879:Med1	UTSW	11	98,155,360 (GRCm38)	unclassified	probably benign
R4993:Med1	UTSW	11	98,163,904 (GRCm38)	missense	probably damaging	1.00
R5040:Med1	UTSW	11	98,155,404 (GRCm38)	intron	probably benign
R5249:Med1	UTSW	11	98,157,240 (GRCm38)	missense	probably benign	0.43
R5373:Med1	UTSW	11	98,163,963 (GRCm38)	missense	probably damaging	0.99
R5374:Med1	UTSW	11	98,163,963 (GRCm38)	missense	probably damaging	0.99
R5552:Med1	UTSW	11	98,166,331 (GRCm38)	nonsense	probably null
R5692:Med1	UTSW	11	98,156,380 (GRCm38)	intron	probably benign
R6010:Med1	UTSW	11	98,158,362 (GRCm38)	missense	probably damaging	1.00
R6149:Med1	UTSW	11	98,183,853 (GRCm38)	missense	possibly damaging	0.74
R6417:Med1	UTSW	11	98,157,228 (GRCm38)	missense	probably damaging	0.97
R7301:Med1	UTSW	11	98,152,808 (GRCm38)	missense	probably benign	0.23
R7507:Med1	UTSW	11	98,158,026 (GRCm38)	missense	probably damaging	1.00
R7529:Med1	UTSW	11	98,155,965 (GRCm38)	missense	unknown
R7588:Med1	UTSW	11	98,155,572 (GRCm38)	missense	unknown
R7654:Med1	UTSW	11	98,169,363 (GRCm38)	missense	possibly damaging	0.75
R7662:Med1	UTSW	11	98,155,392 (GRCm38)	missense	unknown
R7679:Med1	UTSW	11	98,156,061 (GRCm38)	missense	unknown
R7862:Med1	UTSW	11	98,161,210 (GRCm38)	missense	probably benign	0.05
R8447:Med1	UTSW	11	98,169,414 (GRCm38)	missense	probably damaging	1.00
R8693:Med1	UTSW	11	98,155,773 (GRCm38)	missense	unknown
R8843:Med1	UTSW	11	98,189,276 (GRCm38)	missense	possibly damaging	0.88
R9072:Med1	UTSW	11	98,189,183 (GRCm38)	missense	possibly damaging	0.62
R9284:Med1	UTSW	11	98,155,540 (GRCm38)	missense	unknown
R9428:Med1	UTSW	11	98,189,223 (GRCm38)	nonsense	probably null
R9465:Med1	UTSW	11	98,158,318 (GRCm38)	missense	probably benign	0.08
R9531:Med1	UTSW	11	98,157,495 (GRCm38)	missense	probably damaging	0.96
R9537:Med1	UTSW	11	98,171,760 (GRCm38)	missense	possibly damaging	0.74
R9548:Med1	UTSW	11	98,180,058 (GRCm38)	missense	possibly damaging	0.95
R9680:Med1	UTSW	11	98,180,288 (GRCm38)	missense	probably damaging	0.99
R9696:Med1	UTSW	11	98,170,946 (GRCm38)	critical splice donor site	probably null
Z1176:Med1	UTSW	11	98,161,183 (GRCm38)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TTTGCTGCCAGAGGAAGACACAG -3'
(R):5'- TGCCAATGCTTGGAGGTGACAATG -3'

Sequencing Primer
(F):5'- TGTACTGACTGTGAGAGGAGG -3'
(R):5'- GGAGTCAGAGTCCTTTACTGACC -3'

Posted On

2013-06-12