Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03410:Med1'

421739

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med1

Ensembl Gene

ENSMUSG00000018160

Gene Name

mediator complex subunit 1

Synonyms

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03410

Quality Score

Status

Chromosome

Chromosomal Location

98152154-98193293 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98189183 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 44 (M44K)

Ref Sequence

ENSEMBL: ENSMUSP00000103169 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018304
AA Change: M29K

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: M29K

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: M44K

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160
AA Change: M44K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107545
AA Change: M44K

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: M44K

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: ENSMUST00000121487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129557

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,001,896	V409E	probably damaging	Het
1700086D15Rik	A	G	11: 65,152,567		probably benign	Het
Apba1	A	G	19: 23,937,581	N715S	possibly damaging	Het
Arfgef3	G	T	10: 18,600,490	A1527D	probably damaging	Het
Cmtm2a	G	T	8: 104,283,869	P133T	probably damaging	Het
Cyp2d9	T	C	15: 82,456,699	V483A	probably benign	Het
Dclre1b	T	A	3: 103,808,140	D14V	probably damaging	Het
Dock5	T	C	14: 67,846,086	I125V	probably benign	Het
Dok3	G	T	13: 55,524,231	Y211*	probably null	Het
Fat4	T	C	3: 38,891,176	V1406A	probably damaging	Het
Fbn2	A	G	18: 58,050,243	F1790S	possibly damaging	Het
Gm13083	C	A	4: 143,615,281	H93Q	probably benign	Het
Gm4787	A	T	12: 81,379,174	M70K	probably damaging	Het
Gulp1	A	T	1: 44,708,617	D10V	probably damaging	Het
Hagh	T	C	17: 24,860,942		probably benign	Het
Htt	A	G	5: 34,799,445	E206G	probably damaging	Het
Hyou1	A	G	9: 44,388,058	E682G	probably benign	Het
Igkv4-59	G	T	6: 69,438,466	A35E	probably damaging	Het
Krt78	A	G	15: 101,953,986	V80A	probably damaging	Het
Lars2	G	A	9: 123,418,776	A333T	possibly damaging	Het
Lrrc4	G	A	6: 28,830,516	R367W	probably damaging	Het
Mep1a	T	A	17: 43,478,095		probably null	Het
Mmrn1	A	G	6: 60,975,835	I367V	probably benign	Het
Myo18a	T	C	11: 77,848,004	L1677P	probably damaging	Het
Neb	T	C	2: 52,319,705	T246A	probably benign	Het
Nkiras1	A	G	14: 18,280,073	R155G	probably benign	Het
Nrip1	T	C	16: 76,292,491	N726S	probably benign	Het
Nyap2	A	G	1: 81,241,441	T393A	possibly damaging	Het
Olfr1029	T	A	2: 85,975,420	M59K	probably damaging	Het
Olfr1272	A	G	2: 90,282,213	Y121H	probably damaging	Het
Olfr32	G	A	2: 90,139,145		probably benign	Het
Oprm1	A	T	10: 6,830,051	I238F	probably damaging	Het
Pcnx2	T	A	8: 125,887,040	E557D	probably damaging	Het
Pole	A	G	5: 110,324,559	I1563V	probably benign	Het
Prdx3	T	G	19: 60,871,410		probably benign	Het
Rgsl1	C	T	1: 153,793,755	R295K	probably null	Het
Rhbdl2	T	A	4: 123,829,670	L289*	probably null	Het
Rnps1	A	G	17: 24,421,861		probably benign	Het
Rpgrip1	A	G	14: 52,158,366		probably benign	Het
Ryr2	A	T	13: 11,588,147	Y4518N	probably damaging	Het
Scyl3	A	G	1: 163,944,867	N296S	probably damaging	Het
Sipa1l3	G	A	7: 29,348,539	T1308M	probably damaging	Het
Slc39a9	A	G	12: 80,644,888	D3G	probably damaging	Het
Slc4a9	A	G	18: 36,529,687	E165G	probably benign	Het
Slc6a3	A	T	13: 73,538,657	I48F	probably benign	Het
Stxbp3	C	T	3: 108,802,160	C354Y	probably damaging	Het
Terb1	C	A	8: 104,473,042		probably benign	Het
Tfrc	G	A	16: 32,624,831		probably null	Het
Toporsl	A	C	4: 52,611,134	R342S	probably benign	Het
Ttc26	T	C	6: 38,385,500	L70P	probably damaging	Het
Ube2d3	T	A	3: 135,465,217	W141R	probably damaging	Het
Vps13b	G	T	15: 35,910,340	V3417L	probably benign	Het

Other mutations in Med1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Med1	APN	11	98155684	intron	probably benign
IGL00690:Med1	APN	11	98169400	missense	possibly damaging	0.94
IGL01087:Med1	APN	11	98180285	missense	probably damaging	1.00
IGL01133:Med1	APN	11	98157986	nonsense	probably null
IGL02223:Med1	APN	11	98157876	missense	probably damaging	1.00
IGL02257:Med1	APN	11	98180270	missense	probably damaging	0.98
IGL02699:Med1	APN	11	98180025	missense	possibly damaging	0.61
IGL02706:Med1	APN	11	98156707	intron	probably benign
IGL02902:Med1	APN	11	98156509	intron	probably benign
IGL02986:Med1	APN	11	98156260	intron	probably benign
IGL03011:Med1	APN	11	98161033	missense	possibly damaging	0.92
IGL03282:Med1	APN	11	98156817	missense	probably damaging	1.00
IGL03303:Med1	APN	11	98158352	missense	probably damaging	1.00
IGL03342:Med1	APN	11	98189180	critical splice donor site	probably null
PIT4453001:Med1	UTSW	11	98158417	missense	probably benign	0.40
R0040:Med1	UTSW	11	98166255	critical splice donor site	probably null
R0206:Med1	UTSW	11	98155689	intron	probably benign
R0206:Med1	UTSW	11	98155689	intron	probably benign
R0208:Med1	UTSW	11	98155689	intron	probably benign
R0310:Med1	UTSW	11	98167574	missense	probably benign	0.38
R0505:Med1	UTSW	11	98156904	missense	probably damaging	1.00
R0597:Med1	UTSW	11	98169438	missense	probably benign	0.08
R0680:Med1	UTSW	11	98180166	intron	probably null
R0686:Med1	UTSW	11	98158404	missense	probably damaging	1.00
R0698:Med1	UTSW	11	98155689	intron	probably benign
R1293:Med1	UTSW	11	98157036	missense	possibly damaging	0.93
R1302:Med1	UTSW	11	98157449	missense	possibly damaging	0.50
R1365:Med1	UTSW	11	98155995	intron	probably benign
R1537:Med1	UTSW	11	98160946	missense	probably damaging	0.97
R1609:Med1	UTSW	11	98161170	missense	possibly damaging	0.91
R1631:Med1	UTSW	11	98155626	intron	probably benign
R1792:Med1	UTSW	11	98157283	missense	probably damaging	1.00
R1831:Med1	UTSW	11	98156611	intron	probably benign
R1837:Med1	UTSW	11	98169412	missense	probably damaging	1.00
R2366:Med1	UTSW	11	98161182	missense	probably damaging	0.98
R3754:Med1	UTSW	11	98166722	missense	possibly damaging	0.77
R3762:Med1	UTSW	11	98155515	intron	probably benign
R4012:Med1	UTSW	11	98171706	missense	possibly damaging	0.85
R4112:Med1	UTSW	11	98180087	missense	probably damaging	1.00
R4384:Med1	UTSW	11	98152862	unclassified	probably benign
R4579:Med1	UTSW	11	98158422	missense	possibly damaging	0.56
R4740:Med1	UTSW	11	98180264	nonsense	probably null
R4819:Med1	UTSW	11	98155432	intron	probably benign
R4879:Med1	UTSW	11	98155360	unclassified	probably benign
R4993:Med1	UTSW	11	98163904	missense	probably damaging	1.00
R5040:Med1	UTSW	11	98155404	intron	probably benign
R5249:Med1	UTSW	11	98157240	missense	probably benign	0.43
R5373:Med1	UTSW	11	98163963	missense	probably damaging	0.99
R5374:Med1	UTSW	11	98163963	missense	probably damaging	0.99
R5552:Med1	UTSW	11	98166331	nonsense	probably null
R5692:Med1	UTSW	11	98156380	intron	probably benign
R6010:Med1	UTSW	11	98158362	missense	probably damaging	1.00
R6149:Med1	UTSW	11	98183853	missense	possibly damaging	0.74
R6417:Med1	UTSW	11	98157228	missense	probably damaging	0.97
R7301:Med1	UTSW	11	98152808	missense	probably benign	0.23
R7507:Med1	UTSW	11	98158026	missense	probably damaging	1.00
R7529:Med1	UTSW	11	98155965	missense	unknown

Posted On

2016-08-02