Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03303:Med1'

416298

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 #

IGL03303

Quality Score

Status

Chromosome

Chromosomal Location

98152154-98193293 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 98158352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 539 (N539K)

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: N524K

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

SMART Domains

Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: N524K

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 damaging
Transcript: ENSMUST00000092735
AA Change: N539K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160
AA Change: N539K

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: N539K

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

SMART Domains

Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: N539K

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,870,077	E17G	possibly damaging	Het
A2m	T	A	6: 121,667,163	V940E	probably damaging	Het
Agap1	T	A	1: 89,665,152	V307D	probably damaging	Het
Amd1	A	G	10: 40,290,125	V286A	possibly damaging	Het
Chrne	T	C	11: 70,615,100	K453R	possibly damaging	Het
Ckm	T	A	7: 19,414,338		probably benign	Het
Ckmt1	A	G	2: 121,360,005	T138A	probably benign	Het
Cldn4	A	G	5: 134,946,249	V166A	possibly damaging	Het
Dclre1a	T	C	19: 56,546,766	T129A	possibly damaging	Het
Dlgap2	T	A	8: 14,727,812	D352E	probably damaging	Het
Dnmt1	A	G	9: 20,926,710	I236T	probably benign	Het
Enam	G	T	5: 88,504,591	V1320L	probably benign	Het
Ezh1	A	C	11: 101,195,671		probably null	Het
F13b	A	T	1: 139,513,036	D410V	possibly damaging	Het
Fcrl6	A	T	1: 172,597,688	Y259N	probably damaging	Het
Fpr-rs7	A	T	17: 20,113,739	F163Y	possibly damaging	Het
Gpihbp1	C	T	15: 75,597,978	Q181*	probably null	Het
Htr2b	T	C	1: 86,099,339		probably benign	Het
Igkv1-35	A	G	6: 70,011,651	I8T	probably benign	Het
Kcnq2	T	C	2: 181,082,389	T584A	probably benign	Het
Khdrbs3	A	G	15: 69,024,823	T111A	probably benign	Het
Krtap29-1	A	T	11: 99,978,843	C71S	probably benign	Het
Lrrc4c	A	T	2: 97,629,592	I188F	probably damaging	Het
Mga	T	A	2: 119,903,452	D260E	probably damaging	Het
Mnd1	A	G	3: 84,104,937	I155T	probably benign	Het
Msrb3	T	C	10: 120,784,141	D91G	probably benign	Het
Mycbp2	A	T	14: 103,247,758	D1102E	probably damaging	Het
Nfx1	T	A	4: 41,004,323		probably benign	Het
Nrsn2	T	C	2: 152,374,211	D24G	possibly damaging	Het
Olfr1262	A	T	2: 90,002,466	K20I	possibly damaging	Het
Osmr	T	A	15: 6,842,808	R268S	probably benign	Het
Pelo	C	A	13: 115,088,661	V343L	probably damaging	Het
Rp1	T	A	1: 4,344,817	N2024I	probably damaging	Het
Rps6ka2	C	T	17: 7,228,012	Q33*	probably null	Het
Slfn2	G	A	11: 83,069,467	V91I	possibly damaging	Het
Socs6	G	T	18: 88,869,744	A349E	probably damaging	Het
Syt2	A	G	1: 134,741,911	N97D	probably benign	Het
Tas2r123	T	A	6: 132,847,438	H99Q	probably damaging	Het
Tmc3	A	G	7: 83,590,725		probably benign	Het
Ube2s	A	T	7: 4,810,477	V35D	probably damaging	Het
Usp32	A	T	11: 85,022,832	V891D	probably damaging	Het
Vmn1r169	A	T	7: 23,578,009	E275D	probably benign	Het
Vps13c	A	G	9: 67,934,504	H1936R	probably benign	Het
Wrap73	C	A	4: 154,146,543	A92E	probably damaging	Het
Zfhx4	C	T	3: 5,403,350	T2856M	probably damaging	Het
Zmym1	A	T	4: 127,049,134	I487N	probably damaging	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
IGL03342:Med1	APN	11	98189180	critical splice donor site	probably null
IGL03410:Med1	APN	11	98189183	missense	possibly damaging	0.62
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	splice site	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
R7588:Med1	UTSW	11	98155572	missense	unknown
R7654:Med1	UTSW	11	98169363	missense	possibly damaging	0.75
R7662:Med1	UTSW	11	98155392	missense	unknown
R7679:Med1	UTSW	11	98156061	missense	unknown
R7862:Med1	UTSW	11	98161210	missense	probably benign	0.05
R8447:Med1	UTSW	11	98169414	missense	probably damaging	1.00
R8693:Med1	UTSW	11	98155773	missense	unknown
R8843:Med1	UTSW	11	98189276	missense	possibly damaging	0.88
R9072:Med1	UTSW	11	98189183	missense	possibly damaging	0.62
R9284:Med1	UTSW	11	98155540	missense	unknown
R9428:Med1	UTSW	11	98189223	nonsense	probably null
R9465:Med1	UTSW	11	98158318	missense	probably benign	0.08
R9531:Med1	UTSW	11	98157495	missense	probably damaging	0.96
R9537:Med1	UTSW	11	98171760	missense	possibly damaging	0.74
R9548:Med1	UTSW	11	98180058	missense	possibly damaging	0.95
R9680:Med1	UTSW	11	98180288	missense	probably damaging	0.99
R9696:Med1	UTSW	11	98170946	critical splice donor site	probably null
Z1176:Med1	UTSW	11	98161183	missense	possibly damaging	0.62

Posted On

2016-08-02