Mutagenetix > Incidental Mutation

Incidental Mutation 'R8969:Med27'

682905

Institutional Source

Beutler Lab

Gene Symbol

Med27

Ensembl Gene

ENSMUSG00000026799

Gene Name

mediator complex subunit 27

Synonyms

Crsp8, 1500015J03Rik, 2310042P07Rik, D2Ertd434e

MMRRC Submission

068803-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R8969 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29236831-29414805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 29236875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 7 (V7F)

Ref Sequence

ENSEMBL: ENSMUSP00000028139 (fasta)

Gene Model

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

AlphaFold

Q9DB40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028139
AA Change: V7F

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

SMART Domains

Protein: ENSMUSP00000028139
Gene: ENSMUSG00000026799
AA Change: V7F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113830
AA Change: V7F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (77/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,227,944 (GRCm39)	N662K	probably benign	Het
Acp7	G	A	7: 28,307,382 (GRCm39)	R492W	probably damaging	Het
Adam33	C	T	2: 130,894,994 (GRCm39)	G688D	probably damaging	Het
Ak3	T	G	19: 29,025,094 (GRCm39)	M46L	probably benign	Het
Aldh1l1	A	G	6: 90,547,790 (GRCm39)	T417A	probably benign	Het
Ambp	C	T	4: 63,072,328 (GRCm39)		probably benign	Het
Arhgef11	T	C	3: 87,632,949 (GRCm39)	S687P	probably damaging	Het
Ash1l	T	C	3: 88,873,598 (GRCm39)	M127T	possibly damaging	Het
Atg9b	C	T	5: 24,592,832 (GRCm39)	A524T	probably benign	Het
Btbd10	A	T	7: 112,925,162 (GRCm39)	S277T	probably damaging	Het
Ccdc167	T	C	17: 29,924,553 (GRCm39)	D16G	probably damaging	Het
Cdh12	A	G	15: 21,492,739 (GRCm39)	T253A	probably damaging	Het
Cfap206	A	T	4: 34,692,522 (GRCm39)	D501E	probably benign	Het
Chrnb2	A	G	3: 89,664,532 (GRCm39)	F461L	probably damaging	Het
Clic1	T	C	17: 35,274,386 (GRCm39)		probably null	Het
Cmah	A	G	13: 24,606,636 (GRCm39)	Y89C	probably damaging	Het
Crkl	A	G	16: 17,286,918 (GRCm39)	E158G	probably damaging	Het
Cyp3a59	A	T	5: 146,049,630 (GRCm39)	E486V	probably benign	Het
D16Ertd472e	T	G	16: 78,344,682 (GRCm39)	Y142S	probably damaging	Het
Decr2	T	A	17: 26,306,355 (GRCm39)	M94L	probably benign	Het
Dspp	A	T	5: 104,325,640 (GRCm39)	S668C	unknown	Het
Dync2h1	T	C	9: 7,130,723 (GRCm39)	R1708G	probably damaging	Het
Eno3	T	A	11: 70,551,691 (GRCm39)	I217N	possibly damaging	Het
Fcho2	A	T	13: 98,891,604 (GRCm39)	L386*	probably null	Het
Gm5114	C	A	7: 39,058,732 (GRCm39)	V296F	probably damaging	Het
Hc	A	G	2: 34,909,475 (GRCm39)		probably null	Het
Helz2	A	G	2: 180,879,581 (GRCm39)	V679A	probably benign	Het
Ifnar2	T	C	16: 91,201,060 (GRCm39)	F434L	probably benign	Het
Isl1	A	G	13: 116,439,857 (GRCm39)	S164P	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kat2b	T	A	17: 53,967,116 (GRCm39)	Y621*	probably null	Het
Kif2b	T	C	11: 91,468,019 (GRCm39)	H88R	probably benign	Het
Kit	G	A	5: 75,799,722 (GRCm39)	V485I		Het
Klhl36	T	C	8: 120,596,887 (GRCm39)	L196P	probably damaging	Het
Klk1b27	T	A	7: 43,703,932 (GRCm39)	I25K	probably damaging	Het
Kmt2c	T	A	5: 25,519,387 (GRCm39)	Q2241L	possibly damaging	Het
Krt10	T	A	11: 99,278,434 (GRCm39)	N242Y	probably damaging	Het
Krt36	T	A	11: 99,993,129 (GRCm39)	I449F	probably damaging	Het
Mettl25b	G	A	3: 87,837,282 (GRCm39)		probably benign	Het
Mxd1	C	T	6: 86,628,466 (GRCm39)	V145M	probably benign	Het
Mylip	T	A	13: 45,544,820 (GRCm39)	F81L	probably damaging	Het
Nceh1	T	A	3: 27,276,885 (GRCm39)	F69L	probably null	Het
Ndufs3	A	T	2: 90,732,773 (GRCm39)	N104K	probably damaging	Het
Nfxl1	A	C	5: 72,716,473 (GRCm39)	V46G	unknown	Het
Or51a39	T	C	7: 102,363,558 (GRCm39)	T21A	probably benign	Het
Or51f1e	T	G	7: 102,747,251 (GRCm39)	I101S	probably damaging	Het
Or5as1	T	A	2: 86,980,928 (GRCm39)	M26L	probably benign	Het
Or5m10b	A	G	2: 85,699,832 (GRCm39)	N299D	probably benign	Het
Palld	T	A	8: 62,137,883 (GRCm39)	H624L	probably damaging	Het
Pcbp2	T	G	15: 102,399,214 (GRCm39)	L343R	probably damaging	Het
Pclo	T	A	5: 14,572,208 (GRCm39)	I531N	unknown	Het
Phip	T	C	9: 82,809,017 (GRCm39)		probably benign	Het
Phldb2	A	T	16: 45,592,496 (GRCm39)		probably null	Het
Ppp2r5e	G	T	12: 75,500,492 (GRCm39)	T467N	possibly damaging	Het
Ptcd3	T	C	6: 71,880,431 (GRCm39)	I97M	probably benign	Het
Ptpn21	T	A	12: 98,655,284 (GRCm39)	Q561L	probably benign	Het
Rnf38	A	T	4: 44,149,079 (GRCm39)	H121Q	possibly damaging	Het
Sec1	A	G	7: 45,328,897 (GRCm39)	F50S	possibly damaging	Het
Sec62	A	G	3: 30,873,024 (GRCm39)	E369G	unknown	Het
Serpinb2	A	T	1: 107,452,390 (GRCm39)	I323F	probably damaging	Het
Sh3rf1	A	C	8: 61,837,860 (GRCm39)	T802P	probably benign	Het
Srd5a3	A	G	5: 76,301,493 (GRCm39)	R241G	probably benign	Het
Suox	T	C	10: 128,507,542 (GRCm39)	N162S	probably benign	Het
Tenm2	C	T	11: 35,942,688 (GRCm39)	C1327Y	probably damaging	Het
Terf2ip	A	G	8: 112,738,370 (GRCm39)	D86G	probably damaging	Het
Tmc1	G	A	19: 20,793,593 (GRCm39)	R523C	probably damaging	Het
Tmprss11e	T	A	5: 86,861,758 (GRCm39)	I263L	possibly damaging	Het
Tmtc4	T	C	14: 123,179,224 (GRCm39)		probably benign	Het
Tnfrsf22	T	A	7: 143,192,173 (GRCm39)	N171I	unknown	Het
Trpm3	A	G	19: 22,903,308 (GRCm39)	S1035G	probably damaging	Het
U2af1	C	T	17: 31,867,854 (GRCm39)	V72M	possibly damaging	Het
Uimc1	A	G	13: 55,233,447 (GRCm39)	C70R	possibly damaging	Het
Vmn2r83	A	G	10: 79,313,853 (GRCm39)	T154A	probably benign	Het
Xrn2	T	C	2: 146,871,304 (GRCm39)	I302T	probably damaging	Het
Zbtb6	A	G	2: 37,318,677 (GRCm39)	L417P	probably damaging	Het
Zdhhc14	C	T	17: 5,775,555 (GRCm39)	S269L	probably benign	Het
Zfp735	T	A	11: 73,602,699 (GRCm39)	F548I	possibly damaging	Het
Zfp809	T	C	9: 22,137,130 (GRCm39)		probably null	Het
Zranb3	A	T	1: 127,888,588 (GRCm39)	D832E	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
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
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
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'- ACAAAATGACTTCCCTAGATGGAG -3'
(R):5'- ACGGAATGCAAGTTGTCCTG -3'

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

Posted On

2021-10-11