Mutagenetix > Incidental Mutation

Incidental Mutation 'R4722:Med27'

354513

Institutional Source

Beutler Lab

Gene Symbol

Med27

Ensembl Gene

ENSMUSG00000026799

Gene Name

mediator complex subunit 27

Synonyms

Crsp8, 1500015J03Rik, 2310042P07Rik, D2Ertd434e

MMRRC Submission

041987-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R4722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29236831-29414805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29414447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 290 (D290E)

Ref Sequence

ENSEMBL: ENSMUSP00000028139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028139] [ENSMUST00000159280]

AlphaFold

Q9DB40

Predicted Effect

probably damaging
Transcript: ENSMUST00000028139
AA Change: D290E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028139
Gene: ENSMUSG00000026799
AA Change: D290E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147547

Predicted Effect

probably benign
Transcript: ENSMUST00000159280
AA Change: D151E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125390
Gene: ENSMUSG00000026799
AA Change: D151E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	T	12: 55,107,922 (GRCm39)	D92E	probably benign	Het
Abca17	A	G	17: 24,484,403 (GRCm39)	F1620L	probably damaging	Het
Abcf1	T	C	17: 36,268,933 (GRCm39)		probably benign	Het
Adtrp	T	C	13: 41,920,823 (GRCm39)	H248R	probably benign	Het
Aldh1b1	T	G	4: 45,803,472 (GRCm39)	F337V	probably damaging	Het
Amz2	C	T	11: 109,325,457 (GRCm39)	L272F	probably damaging	Het
Asic2	A	T	11: 81,859,009 (GRCm39)	M1K	probably null	Het
Avpr1a	T	A	10: 122,284,906 (GRCm39)	V66E	possibly damaging	Het
AW554918	C	A	18: 25,307,772 (GRCm39)	Y28*	probably null	Het
Cdc25b	C	T	2: 131,035,271 (GRCm39)	P343L	probably damaging	Het
Chd7	T	A	4: 8,822,445 (GRCm39)	I846K	probably damaging	Het
Dnajc13	A	T	9: 104,091,017 (GRCm39)	M688K	probably benign	Het
Dock2	T	A	11: 34,586,298 (GRCm39)	I505F	probably damaging	Het
Dpy19l4	A	G	4: 11,290,521 (GRCm39)	V290A	possibly damaging	Het
Dtl	G	T	1: 191,288,953 (GRCm39)	Q254K	possibly damaging	Het
Enpp2	T	G	15: 54,750,985 (GRCm39)	K265T	probably damaging	Het
Epm2aip1	TGTCGCCG	TG	9: 111,101,152 (GRCm39)		probably benign	Het
Fam133b	T	A	5: 3,593,949 (GRCm39)		probably null	Het
Fuom	A	G	7: 139,679,480 (GRCm39)		probably benign	Het
Fut9	T	C	4: 25,799,734 (GRCm39)		probably benign	Het
Gas8	T	A	8: 124,252,374 (GRCm39)	I171N	possibly damaging	Het
Gipc3	T	G	10: 81,177,129 (GRCm39)	D147A	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm5591	T	C	7: 38,218,572 (GRCm39)	K767R	probably damaging	Het
Kctd8	G	A	5: 69,498,544 (GRCm39)	P34L	possibly damaging	Het
Kmt2b	G	A	7: 30,282,627 (GRCm39)	R403C	probably damaging	Het
Krt84	A	T	15: 101,436,846 (GRCm39)	I396N	probably damaging	Het
Lrrk2	C	A	15: 91,573,104 (GRCm39)	F217L	probably damaging	Het
Mical3	T	C	6: 121,015,486 (GRCm39)	Q184R	probably benign	Het
Mlxip	A	T	5: 123,585,265 (GRCm39)	K591M	probably benign	Het
Mutyh	T	A	4: 116,674,069 (GRCm39)	L233H	probably damaging	Het
Naip6	G	T	13: 100,443,580 (GRCm39)	H253N	possibly damaging	Het
Nynrin	A	G	14: 56,091,852 (GRCm39)	E56G	probably damaging	Het
Oip5	C	T	2: 119,443,492 (GRCm39)		probably null	Het
Or10a4	T	A	7: 106,696,777 (GRCm39)	I35N	possibly damaging	Het
Or10ak12	T	C	4: 118,666,146 (GRCm39)	N305S	probably damaging	Het
Or4c104	T	G	2: 88,586,356 (GRCm39)	H221P	possibly damaging	Het
Or4c15	T	C	2: 88,760,324 (GRCm39)	I112V	possibly damaging	Het
Or5p61	T	A	7: 107,758,445 (GRCm39)	I212F	probably benign	Het
Oxr1	T	C	15: 41,677,045 (GRCm39)	S132P	probably damaging	Het
Pcdhac1	C	T	18: 37,224,933 (GRCm39)	T582I	probably damaging	Het
Prl7a2	A	G	13: 27,844,858 (GRCm39)	I176T	probably damaging	Het
Rabgap1l	T	C	1: 160,169,734 (GRCm39)	T30A	possibly damaging	Het
Rapgef2	A	G	3: 78,976,480 (GRCm39)	M1294T	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Rnmt	T	A	18: 68,438,952 (GRCm39)	N20K	probably damaging	Het
Scn7a	T	A	2: 66,531,228 (GRCm39)	T550S	possibly damaging	Het
Shank1	T	A	7: 43,962,638 (GRCm39)	Y117*	probably null	Het
Skint5	T	A	4: 113,751,052 (GRCm39)	K331I	unknown	Het
Slc5a1	A	G	5: 33,304,055 (GRCm39)	Y290C	possibly damaging	Het
Slfn14	T	C	11: 83,174,244 (GRCm39)	E249G	probably benign	Het
Smarcal1	T	C	1: 72,650,496 (GRCm39)	S544P	probably damaging	Het
St6galnac3	A	T	3: 153,117,166 (GRCm39)	Y186N	probably damaging	Het
Tbc1d1	T	C	5: 64,420,900 (GRCm39)	F346S	probably damaging	Het
Tdrd5	A	T	1: 156,129,945 (GRCm39)	I75K	probably benign	Het
Tnrc6a	T	C	7: 122,791,313 (GRCm39)	M1737T	possibly damaging	Het
Toe1	A	T	4: 116,662,397 (GRCm39)	Y283N	probably damaging	Het
Tubal3	G	T	13: 3,978,185 (GRCm39)	G34C	probably damaging	Het
Uxs1	A	G	1: 43,814,006 (GRCm39)	L77P	probably damaging	Het
Vmn1r212	T	C	13: 23,068,078 (GRCm39)	Y85C	probably damaging	Het
Yju2b	A	T	8: 84,985,439 (GRCm39)	C277S	probably benign	Het
Zdhhc4	A	G	5: 143,307,536 (GRCm39)	S162P	probably damaging	Het
Zfp712	A	G	13: 67,190,177 (GRCm39)	S117P	probably benign	Het
Zic4	G	T	9: 91,261,257 (GRCm39)	G164C	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
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
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'- GGCAGCTTTCCTATAGGACCATG -3'
(R):5'- ATGCCCCATCATGACATGC -3'

Sequencing Primer
(F):5'- CTATAGGACCATGGGTGTCTTCCAG -3'
(R):5'- TGACATGCAGCTGACAGTTC -3'

Posted On

2015-10-21