Mutagenetix > Incidental Mutation

Incidental Mutation 'R7254:Med13'

564149

Institutional Source

Beutler Lab

Gene Symbol

Med13

Ensembl Gene

ENSMUSG00000034297

Gene Name

mediator complex subunit 13

Synonyms

1110067M05Rik, Thrap1, Trap240

MMRRC Submission

045315-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R7254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86157859-86248422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86210661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 494 (S494G)

Ref Sequence

ENSEMBL: ENSMUSP00000044268 (fasta)

Gene Model

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

AlphaFold

Q5SWW4

Predicted Effect

probably benign
Transcript: ENSMUST00000043624
AA Change: S494G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044268
Gene: ENSMUSG00000034297
AA Change: S494G

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

Meta Mutation Damage Score

0.0832

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	T	7: 43,147,623 (GRCm39)	D249E	probably damaging	Het
Acacb	A	C	5: 114,347,812 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,025,918 (GRCm39)	V459A	probably damaging	Het
Arid3b	T	C	9: 57,704,037 (GRCm39)	K304E	probably damaging	Het
Ash1l	G	T	3: 88,977,816 (GRCm39)	R2713L	probably damaging	Het
Bmpr1a	A	C	14: 34,136,720 (GRCm39)	D490E	probably benign	Het
Cacna1g	A	T	11: 94,323,393 (GRCm39)	C1270*	probably null	Het
Cep295nl	G	T	11: 118,223,866 (GRCm39)	P326Q	probably damaging	Het
Cfap100	T	C	6: 90,383,043 (GRCm39)	I377V	unknown	Het
Creb1	C	T	1: 64,615,436 (GRCm39)	Q223*	probably null	Het
Ctsc	G	A	7: 87,958,767 (GRCm39)	G349D	probably damaging	Het
Ddx41	G	A	13: 55,681,769 (GRCm39)	R311*	probably null	Het
Dpcd	A	G	19: 45,565,473 (GRCm39)	Q149R	probably benign	Het
Dse	T	A	10: 34,060,144 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,226,205 (GRCm39)		probably benign	Het
Eef2k	C	T	7: 120,488,488 (GRCm39)	H458Y	probably benign	Het
Gipr	A	T	7: 18,897,538 (GRCm39)	V90E	probably damaging	Het
Gm14412	A	T	2: 177,009,189 (GRCm39)	D22E	probably damaging	Het
Gm21886	A	T	18: 80,132,950 (GRCm39)	C69*	probably null	Het
Gm5114	G	A	7: 39,058,390 (GRCm39)	L410F	probably benign	Het
Gmip	T	A	8: 70,269,118 (GRCm39)		probably null	Het
Gtf2f1	T	C	17: 57,314,101 (GRCm39)	T128A	possibly damaging	Het
Hnrnpr	A	G	4: 136,059,886 (GRCm39)	E330G	possibly damaging	Het
Hoxd9	T	A	2: 74,528,718 (GRCm39)	W107R	probably damaging	Het
Iars1	T	C	13: 49,876,554 (GRCm39)		probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Ifi213	G	T	1: 173,421,529 (GRCm39)	P120Q	probably damaging	Het
Il6	A	T	5: 30,219,906 (GRCm39)	Q94L	probably benign	Het
Kcnab1	A	G	3: 65,226,908 (GRCm39)	S196G	probably benign	Het
Kcnv1	C	T	15: 44,976,604 (GRCm39)	V228I	probably benign	Het
Lars2	A	G	9: 123,284,028 (GRCm39)	T739A	possibly damaging	Het
Mtrf1	GCCTTC	GC	14: 79,660,931 (GRCm39)		probably null	Het
Myh9	T	G	15: 77,650,024 (GRCm39)	Q1646P	probably damaging	Het
Nif3l1	T	A	1: 58,489,625 (GRCm39)	S171R	probably benign	Het
Or13n4	A	G	7: 106,422,777 (GRCm39)	*319Q	probably null	Het
Or1e1c	A	G	11: 73,266,201 (GRCm39)	I212V	probably benign	Het
Or1r1	A	G	11: 73,874,603 (GRCm39)	V277A	probably benign	Het
Or51f23	A	G	7: 102,452,765 (GRCm39)	T27A	probably benign	Het
Or5b113	A	T	19: 13,342,475 (GRCm39)	D161V	probably benign	Het
Or6c5b	T	C	10: 129,245,649 (GRCm39)	V138A	probably benign	Het
Or8c8	T	C	9: 38,164,719 (GRCm39)	M2T	probably benign	Het
Pak5	A	T	2: 135,958,684 (GRCm39)	S135T	possibly damaging	Het
Prr29	A	T	11: 106,265,684 (GRCm39)	M1L	probably damaging	Het
Ptpn13	T	A	5: 103,742,502 (GRCm39)	V2407E	probably damaging	Het
Ralgapa1	T	A	12: 55,741,978 (GRCm39)	H1310L	probably damaging	Het
Raph1	T	C	1: 60,538,767 (GRCm39)	S393G	unknown	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Ror2	A	G	13: 53,272,756 (GRCm39)	I303T	possibly damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn10a	C	T	9: 119,447,921 (GRCm39)	D1378N	probably damaging	Het
Serpinc1	T	A	1: 160,821,188 (GRCm39)	C91S	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spata31d1e	T	C	13: 59,889,790 (GRCm39)	I677V	probably benign	Het
Tada1	T	A	1: 166,216,217 (GRCm39)	C139*	probably null	Het
Tbr1	T	A	2: 61,636,386 (GRCm39)	V254E	probably damaging	Het
Timd4	A	T	11: 46,734,016 (GRCm39)	I340F	probably benign	Het
Tubb2a	T	C	13: 34,258,515 (GRCm39)	Y425C	probably damaging	Het
Zfp292	A	T	4: 34,819,476 (GRCm39)	M287K	probably damaging	Het

Other mutations in Med13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Med13	APN	11	86,181,866 (GRCm39)	splice site	probably benign
IGL01391:Med13	APN	11	86,219,323 (GRCm39)	missense	probably benign
IGL01767:Med13	APN	11	86,210,609 (GRCm39)	missense	probably benign	0.38
IGL01830:Med13	APN	11	86,179,754 (GRCm39)	splice site	probably benign
IGL01859:Med13	APN	11	86,174,577 (GRCm39)	missense	possibly damaging	0.86
IGL01924:Med13	APN	11	86,199,522 (GRCm39)	splice site	probably benign
IGL02080:Med13	APN	11	86,174,638 (GRCm39)	missense	probably damaging	0.97
IGL02138:Med13	APN	11	86,177,591 (GRCm39)	missense	probably damaging	0.99
IGL02259:Med13	APN	11	86,248,327 (GRCm39)	missense	possibly damaging	0.89
IGL02339:Med13	APN	11	86,179,765 (GRCm39)	missense	probably benign	0.16
IGL02399:Med13	APN	11	86,174,771 (GRCm39)	splice site	probably benign
IGL02646:Med13	APN	11	86,174,212 (GRCm39)	missense	probably benign	0.00
IGL03227:Med13	APN	11	86,218,618 (GRCm39)	splice site	probably benign
R0197_Med13_854	UTSW	11	86,197,864 (GRCm39)	missense	probably benign	0.13
R0360_Med13_060	UTSW	11	86,219,987 (GRCm39)	splice site	probably benign
R2359_Med13_079	UTSW	11	86,181,861 (GRCm39)	splice site	probably benign
R3735_Med13_085	UTSW	11	86,170,484 (GRCm39)	missense	probably benign	0.00
R4974_Med13_508	UTSW	11	86,189,673 (GRCm39)	missense	probably damaging	0.98
R0116:Med13	UTSW	11	86,210,723 (GRCm39)	missense	probably damaging	0.99
R0189:Med13	UTSW	11	86,210,702 (GRCm39)	missense	probably benign
R0197:Med13	UTSW	11	86,197,864 (GRCm39)	missense	probably benign	0.13
R0206:Med13	UTSW	11	86,191,682 (GRCm39)	splice site	probably benign
R0208:Med13	UTSW	11	86,191,682 (GRCm39)	splice site	probably benign
R0310:Med13	UTSW	11	86,236,829 (GRCm39)	missense	probably benign	0.11
R0360:Med13	UTSW	11	86,219,987 (GRCm39)	splice site	probably benign
R0413:Med13	UTSW	11	86,190,033 (GRCm39)	splice site	probably benign
R0482:Med13	UTSW	11	86,175,977 (GRCm39)	missense	probably benign	0.41
R0497:Med13	UTSW	11	86,167,809 (GRCm39)	splice site	probably benign
R0589:Med13	UTSW	11	86,174,075 (GRCm39)	missense	probably damaging	1.00
R0601:Med13	UTSW	11	86,236,788 (GRCm39)	missense	possibly damaging	0.47
R0646:Med13	UTSW	11	86,221,915 (GRCm39)	missense	possibly damaging	0.95
R0701:Med13	UTSW	11	86,197,864 (GRCm39)	missense	probably benign	0.13
R0709:Med13	UTSW	11	86,210,422 (GRCm39)	missense	possibly damaging	0.95
R0711:Med13	UTSW	11	86,192,179 (GRCm39)	splice site	probably benign
R0734:Med13	UTSW	11	86,192,063 (GRCm39)	missense	probably benign
R0883:Med13	UTSW	11	86,197,864 (GRCm39)	missense	probably benign	0.13
R1793:Med13	UTSW	11	86,220,177 (GRCm39)	missense	probably benign	0.45
R1926:Med13	UTSW	11	86,179,899 (GRCm39)	missense	possibly damaging	0.47
R1959:Med13	UTSW	11	86,189,805 (GRCm39)	missense	probably damaging	1.00
R2286:Med13	UTSW	11	86,210,515 (GRCm39)	missense	probably benign	0.05
R2359:Med13	UTSW	11	86,181,861 (GRCm39)	splice site	probably benign
R2444:Med13	UTSW	11	86,222,786 (GRCm39)	missense	probably damaging	1.00
R2679:Med13	UTSW	11	86,189,403 (GRCm39)	missense	probably benign	0.00
R2879:Med13	UTSW	11	86,189,988 (GRCm39)	missense	possibly damaging	0.61
R3439:Med13	UTSW	11	86,176,123 (GRCm39)	missense	probably damaging	1.00
R3735:Med13	UTSW	11	86,170,484 (GRCm39)	missense	probably benign	0.00
R4333:Med13	UTSW	11	86,179,009 (GRCm39)	missense	probably benign
R4558:Med13	UTSW	11	86,189,880 (GRCm39)	missense	probably damaging	1.00
R4598:Med13	UTSW	11	86,169,392 (GRCm39)	missense	probably damaging	0.97
R4773:Med13	UTSW	11	86,167,746 (GRCm39)	missense	probably damaging	0.99
R4801:Med13	UTSW	11	86,169,599 (GRCm39)	missense	probably damaging	1.00
R4802:Med13	UTSW	11	86,169,599 (GRCm39)	missense	probably damaging	1.00
R4806:Med13	UTSW	11	86,189,403 (GRCm39)	missense	probably benign	0.00
R4940:Med13	UTSW	11	86,178,944 (GRCm39)	missense	probably damaging	1.00
R4974:Med13	UTSW	11	86,189,673 (GRCm39)	missense	probably damaging	0.98
R5056:Med13	UTSW	11	86,219,391 (GRCm39)	missense	probably benign	0.00
R5133:Med13	UTSW	11	86,210,675 (GRCm39)	missense	probably benign	0.32
R5206:Med13	UTSW	11	86,210,705 (GRCm39)	missense	probably damaging	1.00
R5352:Med13	UTSW	11	86,192,294 (GRCm39)	missense	possibly damaging	0.82
R5534:Med13	UTSW	11	86,210,191 (GRCm39)	missense	probably benign	0.09
R5556:Med13	UTSW	11	86,218,664 (GRCm39)	missense	probably benign	0.25
R5633:Med13	UTSW	11	86,169,757 (GRCm39)	splice site	probably benign
R5769:Med13	UTSW	11	86,236,829 (GRCm39)	missense	probably benign	0.11
R6236:Med13	UTSW	11	86,219,357 (GRCm39)	missense	probably damaging	0.99
R6479:Med13	UTSW	11	86,248,353 (GRCm39)	start gained	probably benign
R6487:Med13	UTSW	11	86,221,976 (GRCm39)	missense	probably damaging	1.00
R6524:Med13	UTSW	11	86,192,293 (GRCm39)	missense	probably damaging	0.98
R6528:Med13	UTSW	11	86,189,780 (GRCm39)	missense	probably damaging	1.00
R6805:Med13	UTSW	11	86,169,622 (GRCm39)	missense	possibly damaging	0.48
R6913:Med13	UTSW	11	86,210,702 (GRCm39)	missense	probably benign
R7221:Med13	UTSW	11	86,178,921 (GRCm39)	missense	probably benign	0.00
R7267:Med13	UTSW	11	86,199,652 (GRCm39)	missense	probably benign	0.01
R7309:Med13	UTSW	11	86,181,888 (GRCm39)	missense	probably benign	0.00
R7404:Med13	UTSW	11	86,177,272 (GRCm39)	missense	possibly damaging	0.53
R7586:Med13	UTSW	11	86,161,828 (GRCm39)	missense	probably damaging	0.99
R7704:Med13	UTSW	11	86,236,744 (GRCm39)	nonsense	probably null
R7922:Med13	UTSW	11	86,161,831 (GRCm39)	missense	probably damaging	0.98
R7943:Med13	UTSW	11	86,169,352 (GRCm39)	missense	probably damaging	0.97
R8062:Med13	UTSW	11	86,210,264 (GRCm39)	missense	probably benign
R8075:Med13	UTSW	11	86,163,296 (GRCm39)	missense	probably damaging	0.98
R8207:Med13	UTSW	11	86,194,375 (GRCm39)	missense	probably damaging	1.00
R8671:Med13	UTSW	11	86,161,923 (GRCm39)	missense	probably damaging	1.00
R9056:Med13	UTSW	11	86,189,660 (GRCm39)	nonsense	probably null
R9084:Med13	UTSW	11	86,191,621 (GRCm39)	missense	probably damaging	1.00
R9148:Med13	UTSW	11	86,192,297 (GRCm39)	missense	probably benign	0.27
R9329:Med13	UTSW	11	86,189,283 (GRCm39)	missense	probably benign	0.10
R9380:Med13	UTSW	11	86,177,598 (GRCm39)	missense	probably benign	0.42
R9515:Med13	UTSW	11	86,199,727 (GRCm39)	missense	probably benign	0.00
R9516:Med13	UTSW	11	86,179,801 (GRCm39)	missense	probably benign	0.01
R9690:Med13	UTSW	11	86,169,670 (GRCm39)	missense	probably damaging	1.00
R9751:Med13	UTSW	11	86,189,984 (GRCm39)	missense	probably damaging	1.00
R9752:Med13	UTSW	11	86,174,147 (GRCm39)	missense	possibly damaging	0.87
R9764:Med13	UTSW	11	86,177,345 (GRCm39)	missense	possibly damaging	0.89
Z1176:Med13	UTSW	11	86,246,249 (GRCm39)	missense	probably damaging	1.00
Z1176:Med13	UTSW	11	86,236,688 (GRCm39)	missense	probably benign	0.45
Z1176:Med13	UTSW	11	86,219,370 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AACCAAGGGATCCGGTGTTG -3'
(R):5'- GTCTCAAGACAAGAAATACTGGGC -3'

Sequencing Primer
(F):5'- TGATAAAAATGTTGACTCTGCGGAG -3'
(R):5'- CAACAAGGACAGGCACCATCTTTAG -3'

Posted On

2019-06-26