Mutagenetix > Incidental Mutation

Incidental Mutation 'R7255:Med7'

564216

Institutional Source

Beutler Lab

Gene Symbol

Med7

Ensembl Gene

ENSMUSG00000020397

Gene Name

mediator complex subunit 7

Synonyms

Crsp9, Crsp33, 1110063B05Rik

MMRRC Submission

045316-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R7255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46327752-46333548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46331822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 139 (M139K)

Ref Sequence

ENSEMBL: ENSMUSP00000020665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020665] [ENSMUST00000109231] [ENSMUST00000109232] [ENSMUST00000128940] [ENSMUST00000133635] [ENSMUST00000140027] [ENSMUST00000152119] [ENSMUST00000170928]

AlphaFold

Q9CZB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000020665
AA Change: M139K

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

SMART Domains

Protein: ENSMUSP00000020665
Gene: ENSMUSG00000020397
AA Change: M139K

Domain	Start	End	E-Value	Type
Pfam:Med7	6	165	3.9e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109231
AA Change: M139K

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

SMART Domains

Protein: ENSMUSP00000104854
Gene: ENSMUSG00000020397
AA Change: M139K

Domain	Start	End	E-Value	Type
Pfam:Med7	6	165	3.6e-52	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109232
AA Change: M139K

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

SMART Domains

Protein: ENSMUSP00000104855
Gene: ENSMUSG00000020397
AA Change: M139K

Domain	Start	End	E-Value	Type
Pfam:Med7	6	165	3.9e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000128940
AA Change: M139K

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

SMART Domains

Protein: ENSMUSP00000116997
Gene: ENSMUSG00000020397
AA Change: M139K

Domain	Start	End	E-Value	Type
Pfam:Med7	6	157	4.1e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133635

SMART Domains

Protein: ENSMUSP00000120617
Gene: ENSMUSG00000020397

Domain	Start	End	E-Value	Type
Pfam:Med7	6	133	2.4e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140027

SMART Domains

Protein: ENSMUSP00000120077
Gene: ENSMUSG00000020397

Domain	Start	End	E-Value	Type
Pfam:Med7	6	61	8.6e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152119

SMART Domains

Protein: ENSMUSP00000122182
Gene: ENSMUSG00000020397

Domain	Start	End	E-Value	Type
Pfam:Med7	6	93	6.7e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170928
AA Change: M139K

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

SMART Domains

Protein: ENSMUSP00000131852
Gene: ENSMUSG00000020397
AA Change: M139K

Domain	Start	End	E-Value	Type
Pfam:Med7	7	164	1.9e-46	PFAM

Meta Mutation Damage Score

0.7051

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

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. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a7	A	G	19: 20,692,092 (GRCm39)	S234P	probably damaging	Het
Arhgap28	T	C	17: 68,159,999 (GRCm39)	H650R	probably damaging	Het
Asic1	A	G	15: 99,595,338 (GRCm39)	D355G	probably damaging	Het
Atp8b1	T	A	18: 64,689,939 (GRCm39)	S598C	probably damaging	Het
Bcat1	C	A	6: 144,978,511 (GRCm39)	E237*	probably null	Het
Btbd16	A	T	7: 130,387,722 (GRCm39)	I114F	probably benign	Het
Casp2	A	G	6: 42,245,841 (GRCm39)	D166G	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cpsf1	G	A	15: 76,481,743 (GRCm39)	T1099M	probably damaging	Het
Crisp4	C	A	1: 18,200,455 (GRCm39)	A116S	probably damaging	Het
Cyb5r3	A	G	15: 83,044,366 (GRCm39)	I168T	probably damaging	Het
Dip2b	G	A	15: 100,107,508 (GRCm39)	D1407N	probably benign	Het
Dnajc8	A	G	4: 132,278,884 (GRCm39)	K201R	probably benign	Het
Dock10	C	T	1: 80,520,816 (GRCm39)		probably null	Het
Dop1b	C	A	16: 93,567,034 (GRCm39)	H1272N	probably damaging	Het
Dsc1	C	T	18: 20,230,330 (GRCm39)	R325Q	probably benign	Het
Enpp1	A	T	10: 24,521,213 (GRCm39)	I838K	possibly damaging	Het
Fcna	T	G	2: 25,516,040 (GRCm39)	D159A	probably damaging	Het
Flnc	G	T	6: 29,445,765 (GRCm39)	G840C	probably damaging	Het
Flt1	C	T	5: 147,517,216 (GRCm39)	A1024T	probably damaging	Het
Galc	T	C	12: 98,212,514 (GRCm39)	K207R	probably null	Het
Gbp2b	T	A	3: 142,313,878 (GRCm39)	L386Q	probably damaging	Het
Gm8297	T	A	14: 16,165,868 (GRCm39)	N48K	probably damaging	Het
Gm9639	G	A	10: 77,630,372 (GRCm39)	P180L	unknown	Het
Inpp5a	A	G	7: 139,091,364 (GRCm39)	N116S	probably damaging	Het
Ipo9	T	C	1: 135,313,726 (GRCm39)	E984G	probably benign	Het
Klra4	A	G	6: 130,036,605 (GRCm39)	F145L	probably damaging	Het
Lag3	A	G	6: 124,887,198 (GRCm39)	L123P	probably benign	Het
Lyz3	T	C	10: 117,070,327 (GRCm39)	H150R	probably benign	Het
Mfsd2a	A	C	4: 122,845,814 (GRCm39)	L153R	possibly damaging	Het
Mup9	A	G	4: 60,377,336 (GRCm39)	V71A	probably benign	Het
Myo16	A	T	8: 10,549,169 (GRCm39)	Q927L	unknown	Het
Myo9b	T	C	8: 71,743,535 (GRCm39)	Y199H	probably damaging	Het
Nefm	A	G	14: 68,353,449 (GRCm39)	F406L	probably benign	Het
Or10ag2	T	A	2: 87,249,286 (GRCm39)	L296Q	probably damaging	Het
Or10ak11	A	T	4: 118,687,149 (GRCm39)	F162I	probably benign	Het
Pamr1	T	C	2: 102,441,929 (GRCm39)	F173L	probably damaging	Het
Pds5b	T	A	5: 150,720,132 (GRCm39)	D1205E	probably benign	Het
Plxna2	T	G	1: 194,434,411 (GRCm39)	F646V	probably benign	Het
Pnrc1	C	T	4: 33,248,045 (GRCm39)	G118D	probably benign	Het
Ppp1r16b	T	C	2: 158,603,311 (GRCm39)	F412S	probably benign	Het
Prcc	A	T	3: 87,777,398 (GRCm39)	V192E	probably damaging	Het
Psg19	A	G	7: 18,527,973 (GRCm39)	Y257H	probably benign	Het
Rfx7	T	G	9: 72,527,110 (GRCm39)	S1433R	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Sanbr	G	A	11: 23,570,465 (GRCm39)	P145L	probably benign	Het
Sbspon	G	T	1: 15,954,021 (GRCm39)	C86*	probably null	Het
Sdhb	A	G	4: 140,704,729 (GRCm39)	E230G	possibly damaging	Het
Sema6b	T	C	17: 56,432,336 (GRCm39)	T581A	probably benign	Het
Shkbp1	G	T	7: 27,042,173 (GRCm39)	T594K	possibly damaging	Het
Shpk	A	G	11: 73,090,486 (GRCm39)	S48G	probably benign	Het
Slc1a3	A	G	15: 8,672,483 (GRCm39)	V332A	possibly damaging	Het
Slc25a25	T	C	2: 32,311,384 (GRCm39)	E135G	possibly damaging	Het
Slc5a8	A	T	10: 88,745,493 (GRCm39)	D367V	probably damaging	Het
Slco1c1	A	G	6: 141,515,051 (GRCm39)	T649A	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spats1	T	A	17: 45,765,131 (GRCm39)	D163V	probably damaging	Het
Ssh2	T	A	11: 77,316,419 (GRCm39)	M304K	probably damaging	Het
Sulf1	T	A	1: 12,929,232 (GRCm39)	D166E	probably benign	Het
Syne1	A	G	10: 5,283,446 (GRCm39)	S1540P	probably damaging	Het
Tcf7l1	A	T	6: 72,604,330 (GRCm39)		probably null	Het
Tet1	A	T	10: 62,658,415 (GRCm39)	M1477K	probably benign	Het
Tlr5	T	C	1: 182,801,881 (GRCm39)	F395S	probably damaging	Het
Trrap	T	C	5: 144,795,764 (GRCm39)	L3847P	probably damaging	Het
Tsks	C	T	7: 44,602,112 (GRCm39)	S276L	probably benign	Het
Uggt1	T	C	1: 36,185,187 (GRCm39)	E1519G	probably damaging	Het
Vps13a	A	G	19: 16,631,703 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,696,239 (GRCm39)	V2768A		Het
Wdr26	A	C	1: 181,008,889 (GRCm39)	I627R	probably benign	Het
Zfp160	T	A	17: 21,245,749 (GRCm39)	S100T	probably benign	Het

Other mutations in Med7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1257:Med7	UTSW	11	46,331,460 (GRCm39)	missense	probably damaging	0.96
R1259:Med7	UTSW	11	46,331,460 (GRCm39)	missense	probably damaging	0.96
R1260:Med7	UTSW	11	46,331,460 (GRCm39)	missense	probably damaging	0.96
R7216:Med7	UTSW	11	46,331,681 (GRCm39)	missense	probably damaging	1.00
R7683:Med7	UTSW	11	46,331,687 (GRCm39)	missense	possibly damaging	0.46
R8165:Med7	UTSW	11	46,332,073 (GRCm39)	missense	probably benign	0.12
R9406:Med7	UTSW	11	46,331,865 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TGAACGGCTTCATCCTATGC -3'
(R):5'- TGTCCAGGACAATTGCTGTTATC -3'

Sequencing Primer
(F):5'- GAACGGCTTCATCCTATGCAATTTG -3'
(R):5'- CCAGGACAATTGCTGTTATCATCAG -3'

Posted On

2019-06-26