Mutagenetix > Incidental Mutation

Incidental Mutation 'R4093:Med27'

317704

Institutional Source

Beutler Lab

Gene Symbol

Med27

Ensembl Gene

ENSMUSG00000026799

Gene Name

mediator complex subunit 27

Synonyms

Crsp8, 1500015J03Rik, 2310042P07Rik, D2Ertd434e

MMRRC Submission

041627-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R4093 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29236831-29414805 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 29267920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028139] [ENSMUST00000113830] [ENSMUST00000159034] [ENSMUST00000159280] [ENSMUST00000162597] [ENSMUST00000162623]

AlphaFold

Q9DB40

Predicted Effect

probably benign
Transcript: ENSMUST00000028139

SMART Domains

Protein: ENSMUSP00000028139
Gene: ENSMUSG00000026799

Domain	Start	End	E-Value	Type
Pfam:Med27	228	310	7.2e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153600

Predicted Effect

probably benign
Transcript: ENSMUST00000159034

Predicted Effect

probably benign
Transcript: ENSMUST00000159280

SMART Domains

Protein: ENSMUSP00000125390
Gene: ENSMUSG00000026799

Domain	Start	End	E-Value	Type
Pfam:Med27	85	171	1.4e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162597

Predicted Effect

unknown
Transcript: ENSMUST00000162603
AA Change: C23Y

Predicted Effect

probably benign
Transcript: ENSMUST00000162623

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

92% (69/75)

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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,093,996 (GRCm39)	M2173V	probably damaging	Het
Alas1	G	T	9: 106,119,000 (GRCm39)		probably null	Het
Angpt1	T	C	15: 42,386,941 (GRCm39)	T138A	probably damaging	Het
Atp2c2	G	A	8: 120,476,610 (GRCm39)		probably null	Het
Cadm2	A	G	16: 66,581,675 (GRCm39)	V210A	possibly damaging	Het
Cfap70	A	T	14: 20,459,181 (GRCm39)	D671E	probably damaging	Het
Chd2	C	T	7: 73,150,764 (GRCm39)	E322K	possibly damaging	Het
Chrnd	C	T	1: 87,118,729 (GRCm39)	Q29*	probably null	Het
Cip2a	T	C	16: 48,821,339 (GRCm39)		probably benign	Het
Cym	A	G	3: 107,121,582 (GRCm39)	S237P	probably benign	Het
D030068K23Rik	A	G	8: 109,978,091 (GRCm39)		noncoding transcript	Het
Gsdma2	T	A	11: 98,541,677 (GRCm39)	S135T	probably benign	Het
Hc	A	T	2: 34,873,819 (GRCm39)	Y158*	probably null	Het
Hoxb3	C	A	11: 96,236,926 (GRCm39)	H335N	probably damaging	Het
Htr2a	G	A	14: 74,943,789 (GRCm39)	M456I	probably benign	Het
Ighv1-19	G	A	12: 114,672,350 (GRCm39)	T90I	probably damaging	Het
Kansl3	C	A	1: 36,384,035 (GRCm39)	S729I	probably damaging	Het
Kcnab1	T	C	3: 65,207,035 (GRCm39)	I137T	possibly damaging	Het
Kcnt1	A	T	2: 25,767,927 (GRCm39)	E12V	probably damaging	Het
Klk15	A	T	7: 43,588,204 (GRCm39)	S171C	possibly damaging	Het
Lcn2	A	T	2: 32,277,728 (GRCm39)	M1K	probably null	Het
Lrig1	T	C	6: 94,590,559 (GRCm39)	D487G	probably benign	Het
Lrp8	T	A	4: 107,700,468 (GRCm39)	C135*	probably null	Het
Lrrc31	C	A	3: 30,749,671 (GRCm39)	S54I	probably damaging	Het
Ltbp4	A	G	7: 27,024,641 (GRCm39)	V663A	possibly damaging	Het
Mical1	T	C	10: 41,362,933 (GRCm39)		probably benign	Het
Myt1	A	T	2: 181,453,191 (GRCm39)	M799L	probably damaging	Het
Nlrc4	T	C	17: 74,752,953 (GRCm39)	M477V	probably benign	Het
Npy4r	T	C	14: 33,869,098 (GRCm39)	I63M	probably benign	Het
Or2t43	A	T	11: 58,457,655 (GRCm39)	I172N	probably damaging	Het
Or52e15	C	T	7: 104,645,842 (GRCm39)	G90S	probably benign	Het
Or8b1b	T	A	9: 38,375,379 (GRCm39)	L14Q	probably null	Het
Or8s10	T	C	15: 98,335,563 (GRCm39)	L71P	probably damaging	Het
Piezo1	A	C	8: 123,227,899 (GRCm39)		probably null	Het
Ppp1r12c	T	C	7: 4,486,366 (GRCm39)	E601G	probably damaging	Het
Proser1	T	C	3: 53,387,133 (GRCm39)		probably null	Het
Psme2	A	T	14: 55,825,734 (GRCm39)	N143K	probably benign	Het
Pygo2	C	A	3: 89,340,571 (GRCm39)	P323Q	probably damaging	Het
Rab11b	T	C	17: 33,968,763 (GRCm39)	T77A	possibly damaging	Het
Recql5	A	G	11: 115,795,714 (GRCm39)	S190P	probably benign	Het
Serpina12	A	G	12: 104,004,183 (GRCm39)	F150L	probably damaging	Het
Sfswap	A	G	5: 129,637,805 (GRCm39)	S821G	possibly damaging	Het
Slc22a2	C	T	17: 12,831,281 (GRCm39)	T357M	probably damaging	Het
Spag6l	A	C	16: 16,646,888 (GRCm39)	N39K	probably benign	Het
Srl	A	G	16: 4,315,316 (GRCm39)	S109P	possibly damaging	Het
Tagap	A	T	17: 8,148,255 (GRCm39)	H152L	probably damaging	Het
Tbx3	T	A	5: 119,818,813 (GRCm39)	S463T	probably benign	Het
Tcaf2	A	G	6: 42,619,772 (GRCm39)	L85P	probably damaging	Het
Tenm4	A	T	7: 96,544,979 (GRCm39)	S2332C	probably damaging	Het
Trim60	A	T	8: 65,454,030 (GRCm39)	M73K	probably benign	Het
Trpc1	T	C	9: 95,588,918 (GRCm39)	T769A	probably benign	Het
Tubgcp4	T	A	2: 121,025,958 (GRCm39)	L601Q	probably benign	Het
Unc5d	T	C	8: 29,334,865 (GRCm39)	Y154C	possibly damaging	Het
Vmn1r185	A	T	7: 26,311,208 (GRCm39)	V99E	probably damaging	Het
Vmn1r57	G	T	7: 5,223,856 (GRCm39)	S127I	possibly damaging	Het
Vmn1r62	T	A	7: 5,678,943 (GRCm39)	M208K	probably damaging	Het
Vmn2r110	T	C	17: 20,803,642 (GRCm39)	D311G	possibly damaging	Het
Vmn2r48	C	A	7: 9,676,185 (GRCm39)	S432I	probably benign	Het
Vmn2r48	T	A	7: 9,676,186 (GRCm39)	S432C	probably damaging	Het
Vmn2r71	T	C	7: 85,270,442 (GRCm39)	V536A	probably benign	Het
Vstm2a	A	G	11: 16,209,884 (GRCm39)	T37A	probably damaging	Het
Wfs1	T	C	5: 37,124,809 (GRCm39)	H694R	probably damaging	Het
Zdbf2	T	C	1: 63,348,940 (GRCm39)	S2440P	possibly damaging	Het
Zfp61	A	G	7: 23,990,700 (GRCm39)		probably null	Het
Zfp64	T	C	2: 168,767,855 (GRCm39)	T586A	probably benign	Het
Zfp943	T	A	17: 22,211,963 (GRCm39)	C350S	probably damaging	Het

Other mutations in Med27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01886:Med27	APN	2	29,303,494 (GRCm39)	missense	probably damaging	1.00
R0427:Med27	UTSW	2	29,390,283 (GRCm39)	missense	probably damaging	1.00
R1769:Med27	UTSW	2	29,390,307 (GRCm39)	missense	probably damaging	0.99
R2126:Med27	UTSW	2	29,414,442 (GRCm39)	nonsense	probably null
R3196:Med27	UTSW	2	29,236,882 (GRCm39)	missense	possibly damaging	0.86
R4498:Med27	UTSW	2	29,361,354 (GRCm39)	missense	probably damaging	0.99
R4599:Med27	UTSW	2	29,414,470 (GRCm39)	missense	probably damaging	1.00
R4722:Med27	UTSW	2	29,414,447 (GRCm39)	missense	probably damaging	0.98
R4771:Med27	UTSW	2	29,303,515 (GRCm39)	missense	probably damaging	1.00
R4828:Med27	UTSW	2	29,267,950 (GRCm39)	unclassified	probably benign
R5870:Med27	UTSW	2	29,279,823 (GRCm39)	critical splice acceptor site	probably null
R6061:Med27	UTSW	2	29,399,453 (GRCm39)	missense	probably damaging	0.99
R6159:Med27	UTSW	2	29,414,376 (GRCm39)	splice site	probably null
R7028:Med27	UTSW	2	29,399,446 (GRCm39)	nonsense	probably null
R7319:Med27	UTSW	2	29,303,490 (GRCm39)	missense	possibly damaging	0.53
R7387:Med27	UTSW	2	29,303,419 (GRCm39)	missense	possibly damaging	0.96
R7671:Med27	UTSW	2	29,267,950 (GRCm39)	missense
R8255:Med27	UTSW	2	29,414,376 (GRCm39)	splice site	probably null
R8969:Med27	UTSW	2	29,236,875 (GRCm39)	missense	possibly damaging	0.86
R9026:Med27	UTSW	2	29,399,446 (GRCm39)	nonsense	probably null
R9194:Med27	UTSW	2	29,361,312 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCCTTCAGGTGGAGCAAG -3'
(R):5'- TCTGCAGACTGTGGGAAAATC -3'

Sequencing Primer
(F):5'- AAGGCACCAGGGTCATCTTG -3'
(R):5'- TGCCATTCCGAGATGAGATC -3'

Posted On

2015-05-15