Mutagenetix > Incidental Mutation

Incidental Mutation 'R3196:Med27'

267621

Institutional Source

Beutler Lab

Gene Symbol

Med27

Ensembl Gene

ENSMUSG00000026799

Gene Name

mediator complex subunit 27

Synonyms

Crsp8, 1500015J03Rik, 2310042P07Rik, D2Ertd434e

MMRRC Submission

040617-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R3196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29236831-29414805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29236882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 9 (V9E)

Ref Sequence

ENSEMBL: ENSMUSP00000109461 (fasta)

Gene Model

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

AlphaFold

Q9DB40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028139
AA Change: V9E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028139
Gene: ENSMUSG00000026799
AA Change: V9E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113830
AA Change: V9E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153600

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,132 (GRCm39)	N158K	probably benign	Het
Acnat1	G	C	4: 49,447,457 (GRCm39)	P357A	probably damaging	Het
Akap6	T	A	12: 53,119,240 (GRCm39)	C1102*	probably null	Het
Amelx	T	C	X: 167,964,826 (GRCm39)		probably benign	Het
Brap	G	A	5: 121,803,259 (GRCm39)	V136I	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Csgalnact1	TGG	TG	8: 68,913,737 (GRCm39)		probably null	Het
Csk	A	T	9: 57,537,556 (GRCm39)	C119*	probably null	Het
Dcbld1	T	C	10: 52,195,587 (GRCm39)	L265P	probably damaging	Het
Desi1	T	A	15: 81,887,976 (GRCm39)	K31N	probably damaging	Het
Dpy19l2	C	A	9: 24,607,285 (GRCm39)	G59C	probably damaging	Het
Eif2b5	T	C	16: 20,324,272 (GRCm39)	V498A	probably benign	Het
Epdr1	A	T	13: 19,778,815 (GRCm39)	Y94N	probably damaging	Het
Fat1	T	C	8: 45,404,905 (GRCm39)	V552A	probably benign	Het
Focad	A	G	4: 88,325,588 (GRCm39)	E151G	possibly damaging	Het
Frem1	A	G	4: 82,932,351 (GRCm39)	F117L	probably damaging	Het
Frem2	A	T	3: 53,444,752 (GRCm39)	Y2460N	probably damaging	Het
Gm3604	A	T	13: 62,517,868 (GRCm39)	C163*	probably null	Het
Gpalpp1	A	C	14: 76,336,063 (GRCm39)		probably null	Het
Grid2ip	A	G	5: 143,373,933 (GRCm39)	I858V	probably damaging	Het
Grin2b	ATTGTTGT	ATTGT	6: 135,709,453 (GRCm39)		probably benign	Het
Hps4	A	G	5: 112,512,429 (GRCm39)	T182A	probably damaging	Het
Impa1	A	T	3: 10,394,075 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,131,862 (GRCm39)	S606P	probably damaging	Het
Kif23	T	A	9: 61,839,193 (GRCm39)	R301*	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lcp2	G	T	11: 34,040,670 (GRCm39)	A529S	probably benign	Het
Lhx8	G	A	3: 154,035,925 (GRCm39)	A22V	probably benign	Het
Lin28a	A	T	4: 133,735,235 (GRCm39)	S134T	possibly damaging	Het
Mmp7	C	A	9: 7,692,219 (GRCm39)	S31R	probably benign	Het
Mtcl1	T	G	17: 66,650,829 (GRCm39)	E1545D	probably benign	Het
Muc16	A	G	9: 18,409,126 (GRCm39)	Y187H	probably damaging	Het
Myo3a	G	T	2: 22,404,679 (GRCm39)	K678N	possibly damaging	Het
Nsmce1	T	C	7: 125,085,645 (GRCm39)	M15V	probably benign	Het
Nxpe3	A	T	16: 55,670,078 (GRCm39)	N342K	probably damaging	Het
Or7g25	A	G	9: 19,160,495 (GRCm39)	S67P	probably damaging	Het
Or8g2	T	A	9: 39,821,756 (GRCm39)	I219N	probably damaging	Het
Pcdhb9	A	G	18: 37,534,663 (GRCm39)	N219S	probably benign	Het
Pck2	T	A	14: 55,781,449 (GRCm39)	V190E	probably damaging	Het
Pde4b	G	A	4: 102,456,840 (GRCm39)	A429T	probably damaging	Het
Phf1	T	C	17: 27,153,429 (GRCm39)	V54A	probably damaging	Het
Pla2r1	T	C	2: 60,353,127 (GRCm39)	E278G	probably damaging	Het
Ptges3	G	T	10: 127,908,016 (GRCm39)	R122L	probably benign	Het
Rnpepl1	C	T	1: 92,844,881 (GRCm39)	T391I	probably damaging	Het
Rps6kb1	G	A	11: 86,397,633 (GRCm39)	A404V	probably benign	Het
Rrm2b	T	C	15: 37,945,391 (GRCm39)		probably null	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Skint9	T	G	4: 112,248,148 (GRCm39)	I199L	probably benign	Het
Slc9b2	G	T	3: 135,042,290 (GRCm39)	R523L	probably benign	Het
Slco1c1	T	A	6: 141,477,174 (GRCm39)		probably null	Het
Stox2	T	C	8: 47,645,865 (GRCm39)	T532A	probably damaging	Het
Tbcel	A	G	9: 42,327,248 (GRCm39)	L385P	probably damaging	Het
Tle5	A	G	10: 81,401,474 (GRCm39)	N181D	probably benign	Het
Tmem268	G	A	4: 63,496,149 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top3a	G	A	11: 60,650,182 (GRCm39)	T122M	probably damaging	Het
Trav7n-4	G	A	14: 53,329,088 (GRCm39)	V33I	probably benign	Het
Ttn	T	G	2: 76,539,551 (GRCm39)	E26151D	possibly damaging	Het
Ttn	C	T	2: 76,687,228 (GRCm39)		probably benign	Het
Tyk2	A	G	9: 21,035,328 (GRCm39)	C195R	possibly damaging	Het
Ugt2b38	T	C	5: 87,558,078 (GRCm39)	K528E	probably damaging	Het
Usp28	T	A	9: 48,937,125 (GRCm39)	D483E	probably benign	Het
Vldlr	A	G	19: 27,220,554 (GRCm39)	D598G	probably damaging	Het
Vmn1r51	T	G	6: 90,106,498 (GRCm39)	I138S	probably damaging	Het
Vps13b	G	A	15: 35,869,541 (GRCm39)	A2682T	probably damaging	Het
Wac	T	A	18: 7,917,568 (GRCm39)	V346E	probably damaging	Het
Zdbf2	T	C	1: 63,347,579 (GRCm39)	V1986A	possibly 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
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
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'- GATGGAGATCATAACTTGTGGTCAAC -3'
(R):5'- TACTTGAGGTCCCGGTTGAC -3'

Sequencing Primer
(F):5'- TCATTCAGTCAGACTGGCG -3'
(R):5'- TGACGGAATGCAAGTTGTCC -3'

Posted On

2015-02-18