Mutagenetix > Incidental Mutations

Incidental Mutation 'R7671:Med27'

592141

Institutional Source

Beutler Lab

Gene Symbol

Med27

Ensembl Gene

ENSMUSG00000026799

Gene Name

mediator complex subunit 27

Synonyms

D2Ertd434e, Crsp8, 1500015J03Rik, 2310042P07Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29346819-29524793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29377938 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 33 (V33D)

Gene Model

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

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

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

probably benign
Transcript: ENSMUST00000162623

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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. 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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,259,925	I394N	probably damaging	Het
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
4932438A13Rik	T	C	3: 36,943,231	F1146L	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,062	C191R	probably benign	Het
Akap13	C	A	7: 75,569,900	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,260,986	K257I	probably damaging	Het
Bicc1	A	G	10: 70,957,167	L219P	probably benign	Het
Boc	C	T	16: 44,491,849	V617M		Het
Ccl8	A	G	11: 82,115,207		probably benign	Het
Col18a1	A	G	10: 77,085,383	L261P	unknown	Het
Col5a3	T	A	9: 20,775,086		probably null	Het
Cryba4	A	C	5: 112,248,173		probably null	Het
Csf2rb	A	G	15: 78,338,930	Y114C	probably damaging	Het
Ctif	T	C	18: 75,472,016	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848	F261L	probably damaging	Het
Defb22	A	T	2: 152,486,030	N78K	unknown	Het
Efr3a	G	A	15: 65,837,434		probably null	Het
Elp4	G	T	2: 105,904,481	A3E	probably damaging	Het
Emilin2	A	G	17: 71,273,910	V607A	probably benign	Het
Epsti1	A	G	14: 77,904,490	Y2C	probably damaging	Het
Fam81b	A	C	13: 76,271,293	L46R	probably damaging	Het
Fam81b	G	T	13: 76,271,294	L46I	possibly damaging	Het
Fbxo15	T	A	18: 84,964,153	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,815,980	N77I	probably damaging	Het
Ganab	A	G	19: 8,912,852	Y715C	possibly damaging	Het
Hist3h2ba	T	C	11: 58,949,276	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,628,119	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,517	N633S	probably benign	Het
Krt6a	C	A	15: 101,690,543	S529I	unknown	Het
Leo1	A	G	9: 75,445,562	H129R	probably benign	Het
Lmf1	G	A	17: 25,579,349	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,537,569	S472P	probably benign	Het
Mup15	C	T	4: 61,438,289	E80K	probably benign	Het
Myo18a	G	A	11: 77,859,420	R199H		Het
Nebl	T	A	2: 17,390,916	R558*	probably null	Het
Olfr1121	A	G	2: 87,372,269	T246A	probably damaging	Het
Olfr1252	A	T	2: 89,721,259	I284K	probably damaging	Het
Olfr1329	A	T	4: 118,916,986	H160Q	probably benign	Het
Olfr506	T	C	7: 108,612,991	I228T	probably damaging	Het
Olfr740	G	T	14: 50,453,885	V278L	probably benign	Het
Olfr815	T	C	10: 129,902,353	D119G	probably damaging	Het
Olfr890	A	T	9: 38,143,440	M97L	probably benign	Het
Pde11a	A	T	2: 76,215,353	F376I	possibly damaging	Het
Prima1	A	T	12: 103,235,661	C52S	probably damaging	Het
Pxn	G	A	5: 115,548,547	R366H	not run	Het
Sgce	T	C	6: 4,691,564	Y337C	probably damaging	Het
Slc25a10	T	A	11: 120,495,460	M130K	probably benign	Het
Slc29a2	A	T	19: 5,024,262	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875	H150Q		Het
Slc5a4a	T	A	10: 76,147,550	V7D	unknown	Het
Stk17b	T	A	1: 53,766,000	D134V	probably damaging	Het
Thbs3	T	A	3: 89,216,707	S36T	probably benign	Het
Thsd4	A	G	9: 60,428,174	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698	H422N	probably benign	Het
Tram1	C	A	1: 13,589,644	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238	V326A	possibly damaging	Het

Other mutations in Med27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01886:Med27	APN	2	29413482	missense	probably damaging	1.00
R0427:Med27	UTSW	2	29500271	missense	probably damaging	1.00
R1769:Med27	UTSW	2	29500295	missense	probably damaging	0.99
R2126:Med27	UTSW	2	29524430	nonsense	probably null
R3196:Med27	UTSW	2	29346870	missense	possibly damaging	0.86
R4093:Med27	UTSW	2	29377908	unclassified	probably benign
R4498:Med27	UTSW	2	29471342	missense	probably damaging	0.99
R4599:Med27	UTSW	2	29524458	missense	probably damaging	1.00
R4722:Med27	UTSW	2	29524435	missense	probably damaging	0.98
R4771:Med27	UTSW	2	29413503	missense	probably damaging	1.00
R4828:Med27	UTSW	2	29377938	unclassified	probably benign
R5870:Med27	UTSW	2	29389811	critical splice acceptor site	probably null
R6061:Med27	UTSW	2	29509441	missense	probably damaging	0.99
R6159:Med27	UTSW	2	29524364	splice site	probably null
R7028:Med27	UTSW	2	29509434	nonsense	probably null
R7319:Med27	UTSW	2	29413478	missense	possibly damaging	0.53
R7387:Med27	UTSW	2	29413407	missense	possibly damaging	0.96
R8255:Med27	UTSW	2	29524364	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GCACCAGGGTCATCTTGTTAATTC -3'
(R):5'- CCTAAATCAGGCTCTGCAGAC -3'

Sequencing Primer
(F):5'- AATTCCTGATGCAGCTCTGGAG -3'
(R):5'- CAAAGTCTTGCCATTCCGAGATGAG -3'

Posted On

2019-11-12