Mutagenetix > Incidental Mutation

Incidental Mutation 'R5870:Med27'

455098

Institutional Source

Beutler Lab

Gene Symbol

Med27

Ensembl Gene

ENSMUSG00000026799

Gene Name

mediator complex subunit 27

Synonyms

Crsp8, 1500015J03Rik, 2310042P07Rik, D2Ertd434e

MMRRC Submission

044078-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R5870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29236831-29414805 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 29279823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028139] [ENSMUST00000113830] [ENSMUST00000159034] [ENSMUST00000159034] [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: ENSMUST00000123522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153600

Predicted Effect

probably null
Transcript: ENSMUST00000159034

Predicted Effect

probably null
Transcript: ENSMUST00000159034

Predicted Effect

probably null
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

probably null
Transcript: ENSMUST00000162603

Predicted Effect

probably null
Transcript: ENSMUST00000162603

Predicted Effect

probably null
Transcript: ENSMUST00000162603

Predicted Effect

probably benign
Transcript: ENSMUST00000162623

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

93% (84/90)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	A	G	16: 4,236,232 (GRCm39)	V156A	probably damaging	Het
Ak6	C	A	13: 100,791,932 (GRCm39)	P125Q	probably damaging	Het
Aqp4	A	C	18: 15,532,946 (GRCm39)	V49G	probably damaging	Het
Arfgef1	A	G	1: 10,251,163 (GRCm39)	I874T	probably damaging	Het
Arid1a	T	C	4: 133,408,387 (GRCm39)	D2040G	unknown	Het
Atp1a3	T	G	7: 24,697,003 (GRCm39)	D220A	probably benign	Het
C2cd4c	A	T	10: 79,448,043 (GRCm39)	I368N	possibly damaging	Het
Ccnt1	G	A	15: 98,441,394 (GRCm39)	Q625*	probably null	Het
Cd177	T	A	7: 24,455,757 (GRCm39)	H255L	probably benign	Het
Cdipt	G	A	7: 126,578,094 (GRCm39)	V114M	probably benign	Het
Coro1b	T	A	19: 4,199,384 (GRCm39)	H14Q	probably damaging	Het
Ctdp1	T	A	18: 80,451,901 (GRCm39)	D158V	unknown	Het
Cts7	A	T	13: 61,503,545 (GRCm39)	S140T	probably damaging	Het
Dlgap3	T	A	4: 127,089,502 (GRCm39)	L366*	probably null	Het
Dnah9	C	T	11: 65,976,036 (GRCm39)	A1338T	probably benign	Het
Dock7	T	C	4: 98,952,199 (GRCm39)	I424V	probably benign	Het
Dock8	G	T	19: 25,109,490 (GRCm39)	A891S	probably benign	Het
Dync2i1	A	G	12: 116,219,865 (GRCm39)	S26P	possibly damaging	Het
Elmod3	A	G	6: 72,571,721 (GRCm39)		probably null	Het
Eps15	G	A	4: 109,218,507 (GRCm39)	E107K	probably damaging	Het
Esco1	A	T	18: 10,593,744 (GRCm39)		probably null	Het
Fuz	A	G	7: 44,549,742 (GRCm39)	T407A	probably damaging	Het
Galr1	A	T	18: 82,424,197 (GRCm39)	F27I	probably benign	Het
Glt1d1	A	G	5: 127,754,344 (GRCm39)	Y182C	probably damaging	Het
Gm37240	A	T	3: 84,597,828 (GRCm39)		probably benign	Het
Gm37610	A	G	6: 41,061,848 (GRCm39)		noncoding transcript	Het
Gm6658	G	T	8: 91,635,020 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,789 (GRCm39)	T74A	possibly damaging	Het
Hadha	G	A	5: 30,349,284 (GRCm39)	S109F	possibly damaging	Het
Herc3	A	T	6: 58,893,435 (GRCm39)	Q899L	probably benign	Het
Ift172	C	T	5: 31,434,284 (GRCm39)	E485K	probably benign	Het
Lrrc8e	A	G	8: 4,285,725 (GRCm39)	K650R	possibly damaging	Het
Ly6d	A	T	15: 74,635,381 (GRCm39)	V10D	possibly damaging	Het
Med29	A	T	7: 28,091,922 (GRCm39)	V56E	probably damaging	Het
Mobp	A	G	9: 119,996,919 (GRCm39)	K17E	probably damaging	Het
Mrpl37	G	A	4: 106,923,919 (GRCm39)	T25I	probably benign	Het
Myh1	A	G	11: 67,092,805 (GRCm39)	D33G	possibly damaging	Het
Nrg3	T	A	14: 39,194,586 (GRCm39)	I58F	possibly damaging	Het
Or52e2	A	G	7: 102,804,948 (GRCm39)	I2T	probably benign	Het
Or7e176	A	G	9: 20,171,874 (GRCm39)	D246G	probably benign	Het
Padi1	T	A	4: 140,553,892 (GRCm39)	D359V	probably benign	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pgm3	C	A	9: 86,452,414 (GRCm39)	K15N	probably damaging	Het
Phip	A	T	9: 82,790,730 (GRCm39)		probably benign	Het
Pot1a	G	A	6: 25,778,950 (GRCm39)	T48I	possibly damaging	Het
Ppic	T	C	18: 53,542,333 (GRCm39)	K125R	probably benign	Het
Ppm1j	T	C	3: 104,692,811 (GRCm39)	V440A	possibly damaging	Het
Prg4	T	A	1: 150,331,300 (GRCm39)	K458*	probably null	Het
Rd3	A	T	1: 191,717,261 (GRCm39)	M244L	probably benign	Het
Rflnb	A	G	11: 75,912,864 (GRCm39)	Y175H	probably benign	Het
Rnf157	T	A	11: 116,237,900 (GRCm39)	S574C	probably benign	Het
Sardh	A	G	2: 27,110,653 (GRCm39)		probably null	Het
Senp3	C	T	11: 69,569,048 (GRCm39)		probably null	Het
Siglec1	G	A	2: 130,914,767 (GRCm39)	R1450C	probably damaging	Het
Sim2	A	G	16: 93,924,193 (GRCm39)	H446R	probably damaging	Het
Spon1	T	C	7: 113,631,021 (GRCm39)	I444T	probably damaging	Het
Srebf1	T	A	11: 60,094,410 (GRCm39)	Q568H	possibly damaging	Het
Stxbp4	A	T	11: 90,428,782 (GRCm39)	I441N	possibly damaging	Het
Sugt1	G	A	14: 79,846,451 (GRCm39)	V163I	probably benign	Het
Surf1	G	T	2: 26,806,271 (GRCm39)		probably benign	Het
Synj2	A	G	17: 6,088,128 (GRCm39)	E1348G	probably benign	Het
Tc2n	A	T	12: 101,619,111 (GRCm39)	V349D	probably damaging	Het
Ten1	A	G	11: 116,105,751 (GRCm39)	R112G	possibly damaging	Het
Tm9sf4	A	G	2: 153,036,201 (GRCm39)	D321G	probably damaging	Het
Ttll12	A	T	15: 83,461,237 (GRCm39)	M594K	probably damaging	Het
Ttn	T	A	2: 76,703,058 (GRCm39)		probably benign	Het
Usp28	C	T	9: 48,937,285 (GRCm39)	Q185*	probably null	Het
Vmn2r112	A	G	17: 22,838,004 (GRCm39)	I822V	probably benign	Het
Zc3hc1	A	T	6: 30,382,682 (GRCm39)	L88*	probably null	Het
Zfr	T	A	15: 12,160,701 (GRCm39)	V758D	probably damaging	Het
Zfyve27	T	G	19: 42,160,110 (GRCm39)	L42R	probably benign	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
R4093:Med27	UTSW	2	29,267,920 (GRCm39)	unclassified	probably benign
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
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'- AAGCCCCAGTGTGCACTAAC -3'
(R):5'- ATCGTGAACCTCATGGAGC -3'

Sequencing Primer
(F):5'- CCCTGCTGTAAGTTCATAGATAAAGG -3'
(R):5'- GTGAACCTCATGGAGCTACATCTTAC -3'

Posted On

2017-02-10