Mutagenetix > Incidental Mutation

Incidental Mutation 'R2286:Med13'

243309

Institutional Source

Beutler Lab

Gene Symbol

Med13

Ensembl Gene

ENSMUSG00000034297

Gene Name

mediator complex subunit 13

Synonyms

Thrap1, 1110067M05Rik, Trap240

MMRRC Submission

040285-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R2286 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86267033-86357602 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 86319689 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 542 (D542E)

Ref Sequence

ENSEMBL: ENSMUSP00000044268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043624]

AlphaFold

Q5SWW4

Predicted Effect

probably benign
Transcript: ENSMUST00000043624
AA Change: D542E

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000044268
Gene: ENSMUSG00000034297
AA Change: D542E

Domain	Start	End	E-Value	Type
Pfam:Med13_N	1	384	5e-130	PFAM
low complexity region	438	451	N/A	INTRINSIC
low complexity region	531	540	N/A	INTRINSIC
low complexity region	796	814	N/A	INTRINSIC
low complexity region	984	998	N/A	INTRINSIC
low complexity region	1001	1029	N/A	INTRINSIC
low complexity region	1463	1476	N/A	INTRINSIC
low complexity region	1502	1517	N/A	INTRINSIC
low complexity region	1522	1550	N/A	INTRINSIC
low complexity region	1559	1570	N/A	INTRINSIC
low complexity region	1577	1596	N/A	INTRINSIC
Pfam:Med13_C	1637	2161	3.5e-146	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele exhibited in the heart exhibit increased susceptibility to obesity and worsened glucose intolerance when fed a high fat diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	C	T	5: 8,145,616 (GRCm38)	R308H	probably damaging	Het
Alox5ap	G	A	5: 149,285,430 (GRCm38)		probably null	Het
Ap2s1	T	C	7: 16,748,976 (GRCm38)	V131A	possibly damaging	Het
Cdr2l	GAA	GA	11: 115,392,800 (GRCm38)		probably null	Het
Cpsf7	T	C	19: 10,535,296 (GRCm38)	L248P	probably damaging	Het
Dscr3	C	T	16: 94,512,253 (GRCm38)	E60K	possibly damaging	Het
Dtd1	T	C	2: 144,635,866 (GRCm38)		probably null	Het
Eci1	A	G	17: 24,433,229 (GRCm38)	D75G	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,201,791 (GRCm38)		probably benign	Het
Luc7l	A	G	17: 26,280,046 (GRCm38)		probably benign	Het
Myo6	T	C	9: 80,266,212 (GRCm38)	S545P	possibly damaging	Het
Naip6	C	T	13: 100,300,600 (GRCm38)	A472T	probably benign	Het
Olfr1281	A	G	2: 111,328,907 (GRCm38)	I163V	probably benign	Het
Rsad2	T	A	12: 26,450,676 (GRCm38)	N204I	probably benign	Het
Setd5	T	G	6: 113,119,610 (GRCm38)	N592K	possibly damaging	Het
Sgip1	G	T	4: 102,867,647 (GRCm38)	S59I	possibly damaging	Het
Slc39a5	A	G	10: 128,396,060 (GRCm38)	V532A	probably benign	Het
Smarcc2	G	A	10: 128,463,743 (GRCm38)	M123I	possibly damaging	Het
Tdrd1	A	G	19: 56,839,119 (GRCm38)	T185A	probably benign	Het
Tnn	T	C	1: 160,110,509 (GRCm38)	E1146G	possibly damaging	Het
Unc13a	T	C	8: 71,630,559 (GRCm38)	K1618E	probably damaging	Het
Vmn2r120	A	G	17: 57,508,958 (GRCm38)	L799P	probably damaging	Het

Other mutations in Med13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Med13	APN	11	86,291,040 (GRCm38)	splice site	probably benign
IGL01391:Med13	APN	11	86,328,497 (GRCm38)	missense	probably benign
IGL01767:Med13	APN	11	86,319,783 (GRCm38)	missense	probably benign	0.38
IGL01830:Med13	APN	11	86,288,928 (GRCm38)	splice site	probably benign
IGL01859:Med13	APN	11	86,283,751 (GRCm38)	missense	possibly damaging	0.86
IGL01924:Med13	APN	11	86,308,696 (GRCm38)	splice site	probably benign
IGL02080:Med13	APN	11	86,283,812 (GRCm38)	missense	probably damaging	0.97
IGL02138:Med13	APN	11	86,286,765 (GRCm38)	missense	probably damaging	0.99
IGL02259:Med13	APN	11	86,357,501 (GRCm38)	missense	possibly damaging	0.89
IGL02339:Med13	APN	11	86,288,939 (GRCm38)	missense	probably benign	0.16
IGL02399:Med13	APN	11	86,283,945 (GRCm38)	splice site	probably benign
IGL02646:Med13	APN	11	86,283,386 (GRCm38)	missense	probably benign	0.00
IGL03227:Med13	APN	11	86,327,792 (GRCm38)	splice site	probably benign
R0197_Med13_854	UTSW	11	86,307,038 (GRCm38)	missense	probably benign	0.13
R0360_Med13_060	UTSW	11	86,329,161 (GRCm38)	splice site	probably benign
R2359_Med13_079	UTSW	11	86,291,035 (GRCm38)	splice site	probably benign
R3735_Med13_085	UTSW	11	86,279,658 (GRCm38)	missense	probably benign	0.00
R4974_Med13_508	UTSW	11	86,298,847 (GRCm38)	missense	probably damaging	0.98
R0116:Med13	UTSW	11	86,319,897 (GRCm38)	missense	probably damaging	0.99
R0189:Med13	UTSW	11	86,319,876 (GRCm38)	missense	probably benign
R0197:Med13	UTSW	11	86,307,038 (GRCm38)	missense	probably benign	0.13
R0206:Med13	UTSW	11	86,300,856 (GRCm38)	splice site	probably benign
R0208:Med13	UTSW	11	86,300,856 (GRCm38)	splice site	probably benign
R0310:Med13	UTSW	11	86,346,003 (GRCm38)	missense	probably benign	0.11
R0360:Med13	UTSW	11	86,329,161 (GRCm38)	splice site	probably benign
R0413:Med13	UTSW	11	86,299,207 (GRCm38)	splice site	probably benign
R0482:Med13	UTSW	11	86,285,151 (GRCm38)	missense	probably benign	0.41
R0497:Med13	UTSW	11	86,276,983 (GRCm38)	splice site	probably benign
R0589:Med13	UTSW	11	86,283,249 (GRCm38)	missense	probably damaging	1.00
R0601:Med13	UTSW	11	86,345,962 (GRCm38)	missense	possibly damaging	0.47
R0646:Med13	UTSW	11	86,331,089 (GRCm38)	missense	possibly damaging	0.95
R0701:Med13	UTSW	11	86,307,038 (GRCm38)	missense	probably benign	0.13
R0709:Med13	UTSW	11	86,319,596 (GRCm38)	missense	possibly damaging	0.95
R0711:Med13	UTSW	11	86,301,353 (GRCm38)	splice site	probably benign
R0734:Med13	UTSW	11	86,301,237 (GRCm38)	missense	probably benign
R0883:Med13	UTSW	11	86,307,038 (GRCm38)	missense	probably benign	0.13
R1793:Med13	UTSW	11	86,329,351 (GRCm38)	missense	probably benign	0.45
R1926:Med13	UTSW	11	86,289,073 (GRCm38)	missense	possibly damaging	0.47
R1959:Med13	UTSW	11	86,298,979 (GRCm38)	missense	probably damaging	1.00
R2359:Med13	UTSW	11	86,291,035 (GRCm38)	splice site	probably benign
R2444:Med13	UTSW	11	86,331,960 (GRCm38)	missense	probably damaging	1.00
R2679:Med13	UTSW	11	86,298,577 (GRCm38)	missense	probably benign	0.00
R2879:Med13	UTSW	11	86,299,162 (GRCm38)	missense	possibly damaging	0.61
R3439:Med13	UTSW	11	86,285,297 (GRCm38)	missense	probably damaging	1.00
R3735:Med13	UTSW	11	86,279,658 (GRCm38)	missense	probably benign	0.00
R4333:Med13	UTSW	11	86,288,183 (GRCm38)	missense	probably benign
R4558:Med13	UTSW	11	86,299,054 (GRCm38)	missense	probably damaging	1.00
R4598:Med13	UTSW	11	86,278,566 (GRCm38)	missense	probably damaging	0.97
R4773:Med13	UTSW	11	86,276,920 (GRCm38)	missense	probably damaging	0.99
R4801:Med13	UTSW	11	86,278,773 (GRCm38)	missense	probably damaging	1.00
R4802:Med13	UTSW	11	86,278,773 (GRCm38)	missense	probably damaging	1.00
R4806:Med13	UTSW	11	86,298,577 (GRCm38)	missense	probably benign	0.00
R4940:Med13	UTSW	11	86,288,118 (GRCm38)	missense	probably damaging	1.00
R4974:Med13	UTSW	11	86,298,847 (GRCm38)	missense	probably damaging	0.98
R5056:Med13	UTSW	11	86,328,565 (GRCm38)	missense	probably benign	0.00
R5133:Med13	UTSW	11	86,319,849 (GRCm38)	missense	probably benign	0.32
R5206:Med13	UTSW	11	86,319,879 (GRCm38)	missense	probably damaging	1.00
R5352:Med13	UTSW	11	86,301,468 (GRCm38)	missense	possibly damaging	0.82
R5534:Med13	UTSW	11	86,319,365 (GRCm38)	missense	probably benign	0.09
R5556:Med13	UTSW	11	86,327,838 (GRCm38)	missense	probably benign	0.25
R5633:Med13	UTSW	11	86,278,931 (GRCm38)	splice site	probably benign
R5769:Med13	UTSW	11	86,346,003 (GRCm38)	missense	probably benign	0.11
R6236:Med13	UTSW	11	86,328,531 (GRCm38)	missense	probably damaging	0.99
R6479:Med13	UTSW	11	86,357,527 (GRCm38)	start gained	probably benign
R6487:Med13	UTSW	11	86,331,150 (GRCm38)	missense	probably damaging	1.00
R6524:Med13	UTSW	11	86,301,467 (GRCm38)	missense	probably damaging	0.98
R6528:Med13	UTSW	11	86,298,954 (GRCm38)	missense	probably damaging	1.00
R6805:Med13	UTSW	11	86,278,796 (GRCm38)	missense	possibly damaging	0.48
R6913:Med13	UTSW	11	86,319,876 (GRCm38)	missense	probably benign
R7221:Med13	UTSW	11	86,288,095 (GRCm38)	missense	probably benign	0.00
R7254:Med13	UTSW	11	86,319,835 (GRCm38)	missense	probably benign
R7267:Med13	UTSW	11	86,308,826 (GRCm38)	missense	probably benign	0.01
R7309:Med13	UTSW	11	86,291,062 (GRCm38)	missense	probably benign	0.00
R7404:Med13	UTSW	11	86,286,446 (GRCm38)	missense	possibly damaging	0.53
R7586:Med13	UTSW	11	86,271,002 (GRCm38)	missense	probably damaging	0.99
R7704:Med13	UTSW	11	86,345,918 (GRCm38)	nonsense	probably null
R7922:Med13	UTSW	11	86,271,005 (GRCm38)	missense	probably damaging	0.98
R7943:Med13	UTSW	11	86,278,526 (GRCm38)	missense	probably damaging	0.97
R8062:Med13	UTSW	11	86,319,438 (GRCm38)	missense	probably benign
R8075:Med13	UTSW	11	86,272,470 (GRCm38)	missense	probably damaging	0.98
R8207:Med13	UTSW	11	86,303,549 (GRCm38)	missense	probably damaging	1.00
R8671:Med13	UTSW	11	86,271,097 (GRCm38)	missense	probably damaging	1.00
R9056:Med13	UTSW	11	86,298,834 (GRCm38)	nonsense	probably null
R9084:Med13	UTSW	11	86,300,795 (GRCm38)	missense	probably damaging	1.00
R9148:Med13	UTSW	11	86,301,471 (GRCm38)	missense	probably benign	0.27
R9329:Med13	UTSW	11	86,298,457 (GRCm38)	missense	probably benign	0.10
R9380:Med13	UTSW	11	86,286,772 (GRCm38)	missense	probably benign	0.42
R9515:Med13	UTSW	11	86,308,901 (GRCm38)	missense	probably benign	0.00
R9516:Med13	UTSW	11	86,288,975 (GRCm38)	missense	probably benign	0.01
R9690:Med13	UTSW	11	86,278,844 (GRCm38)	missense	probably damaging	1.00
R9751:Med13	UTSW	11	86,299,158 (GRCm38)	missense	probably damaging	1.00
R9752:Med13	UTSW	11	86,283,321 (GRCm38)	missense	possibly damaging	0.87
R9764:Med13	UTSW	11	86,286,519 (GRCm38)	missense	possibly damaging	0.89
Z1176:Med13	UTSW	11	86,355,423 (GRCm38)	missense	probably damaging	1.00
Z1176:Med13	UTSW	11	86,345,862 (GRCm38)	missense	probably benign	0.45
Z1176:Med13	UTSW	11	86,328,544 (GRCm38)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GGGACTTTGTAATACTTCCAGGC -3'
(R):5'- GCATGGACACAGATTCAGCC -3'

Sequencing Primer
(F):5'- TGCTGTACCAACATACACGGTAGG -3'
(R):5'- CAGCCAAAGACTTGTGATCTCTG -3'

Posted On

2014-10-16