Mutagenetix > Incidental Mutation

Incidental Mutation 'R0711:Med13'

62751

Institutional Source

Beutler Lab

Gene Symbol

Med13

Ensembl Gene

ENSMUSG00000034297

Gene Name

mediator complex subunit 13

Synonyms

Thrap1, 1110067M05Rik, Trap240

MMRRC Submission

038894-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R0711 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

86267033-86357602 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 86301353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044268 (fasta)

Gene Model

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

AlphaFold

Q5SWW4

Predicted Effect

probably benign
Transcript: ENSMUST00000043624

SMART Domains

Protein: ENSMUSP00000044268
Gene: ENSMUSG00000034297

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143819

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 91.4%

Validation Efficiency

100% (91/91)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,068,225	D1058E	probably damaging	Het
4933405L10Rik	A	T	8: 105,708,931		probably null	Het
Adamtsl3	T	A	7: 82,465,699		probably benign	Het
Afdn	C	T	17: 13,852,436	P874S	probably damaging	Het
Ankrd6	G	A	4: 32,815,326	A391V	probably damaging	Het
Arhgef28	T	G	13: 97,931,254	T1388P	probably damaging	Het
Asxl3	G	T	18: 22,524,451	M1839I	probably benign	Het
BC005537	T	C	13: 24,805,940	F129L	probably damaging	Het
Celf2	A	G	2: 6,721,415		probably null	Het
Chid1	C	T	7: 141,496,677	V325I	probably benign	Het
Cnn3	T	A	3: 121,449,984	D31E	probably benign	Het
Col12a1	G	A	9: 79,652,035	P1857L	probably damaging	Het
Cpeb1	T	A	7: 81,351,870	R430W	probably benign	Het
Daw1	T	C	1: 83,191,338		probably benign	Het
Dcaf13	A	G	15: 39,138,089	Y264C	probably damaging	Het
Dnah6	T	C	6: 73,087,602	I2666V	probably damaging	Het
Dnaic2	A	C	11: 114,754,332	D531A	probably benign	Het
Dock10	A	T	1: 80,523,975	F1833I	probably damaging	Het
Efhd2	C	T	4: 141,859,872	A200T	probably damaging	Het
Epb41l5	T	A	1: 119,623,911		probably benign	Het
Ermp1	A	G	19: 29,631,388	Y164H	possibly damaging	Het
Gkn2	T	C	6: 87,373,419		probably benign	Het
Golgb1	A	T	16: 36,918,790	Q2497L	probably damaging	Het
Gzme	A	T	14: 56,117,739	M245K	probably damaging	Het
Iars2	A	T	1: 185,322,388		probably benign	Het
Icosl	T	A	10: 78,073,941	V240D	probably damaging	Het
Igsf3	T	C	3: 101,427,393	M262T	probably benign	Het
Ing3	G	T	6: 21,971,237	E336*	probably null	Het
Kat2a	A	T	11: 100,706,471	V625E	probably damaging	Het
Ksr1	A	G	11: 79,038,247		probably benign	Het
Lypd8	A	T	11: 58,386,757	M122L	probably benign	Het
Mdfi	A	T	17: 47,832,930		probably benign	Het
Msh6	C	T	17: 87,986,684	R956C	probably damaging	Het
Myo15b	A	G	11: 115,883,838	E670G	probably damaging	Het
Myo1d	A	G	11: 80,484,332	L972P	probably damaging	Het
Olfr1193	A	G	2: 88,678,674	D266G	probably damaging	Het
Olfr632	G	A	7: 103,937,817	A146T	probably benign	Het
Olfr834	T	A	9: 18,988,151	N54K	probably benign	Het
Pde8b	C	G	13: 95,107,817	S143T	possibly damaging	Het
Pias4	G	T	10: 81,157,530		probably benign	Het
Prkca	A	G	11: 107,981,654	Y427H	probably benign	Het
Psg25	G	A	7: 18,529,560	Q113*	probably null	Het
Rab3gap2	T	A	1: 185,249,926	S392T	probably damaging	Het
Scrib	A	G	15: 76,066,907		probably benign	Het
Sdk2	A	G	11: 113,903,144		probably benign	Het
Serpinb1c	T	A	13: 32,886,283		probably benign	Het
Serpinb9f	T	A	13: 33,327,921	W136R	probably damaging	Het
Skint10	C	A	4: 112,715,905		probably benign	Het
Slc25a13	T	C	6: 6,117,128	T196A	probably damaging	Het
Slc26a5	T	C	5: 21,847,232	H33R	probably damaging	Het
Slc27a6	T	C	18: 58,598,757		probably benign	Het
Slitrk6	A	T	14: 110,749,819	Y819N	probably damaging	Het
Spata46	C	T	1: 170,312,034	Q201*	probably null	Het
Sptbn1	A	T	11: 30,114,739	V1920E	probably damaging	Het
Taf6l	A	G	19: 8,778,517	F256L	probably benign	Het
Tmco3	T	A	8: 13,292,039	N104K	probably damaging	Het
Tmem200c	A	G	17: 68,842,254	T611A	probably damaging	Het
Tmem202	T	G	9: 59,525,372	Y24S	probably damaging	Het
Tpp1	A	G	7: 105,749,419	L230P	probably damaging	Het
Trim56	C	T	5: 137,112,992	E557K	probably benign	Het
Trrap	C	T	5: 144,853,499	L3590F	probably damaging	Het
Ttc37	C	T	13: 76,182,891	P1480L	probably damaging	Het
Tulp4	A	G	17: 6,139,112	T70A	possibly damaging	Het
Vcp	G	C	4: 42,986,201	A297G	probably benign	Het
Vwf	T	A	6: 125,626,271	H861Q	probably benign	Het
Wdr64	T	C	1: 175,772,185	I536T	probably benign	Het
Zfp72	G	A	13: 74,376,425		probably benign	Het
Zfp850	T	C	7: 27,990,273	N170S	probably benign	Het

Other mutations in Med13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Med13	APN	11	86291040	splice site	probably benign
IGL01391:Med13	APN	11	86328497	missense	probably benign
IGL01767:Med13	APN	11	86319783	missense	probably benign	0.38
IGL01830:Med13	APN	11	86288928	splice site	probably benign
IGL01859:Med13	APN	11	86283751	missense	possibly damaging	0.86
IGL01924:Med13	APN	11	86308696	splice site	probably benign
IGL02080:Med13	APN	11	86283812	missense	probably damaging	0.97
IGL02138:Med13	APN	11	86286765	missense	probably damaging	0.99
IGL02259:Med13	APN	11	86357501	missense	possibly damaging	0.89
IGL02339:Med13	APN	11	86288939	missense	probably benign	0.16
IGL02399:Med13	APN	11	86283945	splice site	probably benign
IGL02646:Med13	APN	11	86283386	missense	probably benign	0.00
IGL03227:Med13	APN	11	86327792	splice site	probably benign
R0197_Med13_854	UTSW	11	86307038	missense	probably benign	0.13
R0360_Med13_060	UTSW	11	86329161	splice site	probably benign
R2359_Med13_079	UTSW	11	86291035	splice site	probably benign
R3735_Med13_085	UTSW	11	86279658	missense	probably benign	0.00
R4974_Med13_508	UTSW	11	86298847	missense	probably damaging	0.98
R0116:Med13	UTSW	11	86319897	missense	probably damaging	0.99
R0189:Med13	UTSW	11	86319876	missense	probably benign
R0197:Med13	UTSW	11	86307038	missense	probably benign	0.13
R0206:Med13	UTSW	11	86300856	splice site	probably benign
R0208:Med13	UTSW	11	86300856	splice site	probably benign
R0310:Med13	UTSW	11	86346003	missense	probably benign	0.11
R0360:Med13	UTSW	11	86329161	splice site	probably benign
R0413:Med13	UTSW	11	86299207	splice site	probably benign
R0482:Med13	UTSW	11	86285151	missense	probably benign	0.41
R0497:Med13	UTSW	11	86276983	splice site	probably benign
R0589:Med13	UTSW	11	86283249	missense	probably damaging	1.00
R0601:Med13	UTSW	11	86345962	missense	possibly damaging	0.47
R0646:Med13	UTSW	11	86331089	missense	possibly damaging	0.95
R0701:Med13	UTSW	11	86307038	missense	probably benign	0.13
R0709:Med13	UTSW	11	86319596	missense	possibly damaging	0.95
R0734:Med13	UTSW	11	86301237	missense	probably benign
R0883:Med13	UTSW	11	86307038	missense	probably benign	0.13
R1793:Med13	UTSW	11	86329351	missense	probably benign	0.45
R1926:Med13	UTSW	11	86289073	missense	possibly damaging	0.47
R1959:Med13	UTSW	11	86298979	missense	probably damaging	1.00
R2286:Med13	UTSW	11	86319689	missense	probably benign	0.05
R2359:Med13	UTSW	11	86291035	splice site	probably benign
R2444:Med13	UTSW	11	86331960	missense	probably damaging	1.00
R2679:Med13	UTSW	11	86298577	missense	probably benign	0.00
R2879:Med13	UTSW	11	86299162	missense	possibly damaging	0.61
R3439:Med13	UTSW	11	86285297	missense	probably damaging	1.00
R3735:Med13	UTSW	11	86279658	missense	probably benign	0.00
R4333:Med13	UTSW	11	86288183	missense	probably benign
R4558:Med13	UTSW	11	86299054	missense	probably damaging	1.00
R4598:Med13	UTSW	11	86278566	missense	probably damaging	0.97
R4773:Med13	UTSW	11	86276920	missense	probably damaging	0.99
R4801:Med13	UTSW	11	86278773	missense	probably damaging	1.00
R4802:Med13	UTSW	11	86278773	missense	probably damaging	1.00
R4806:Med13	UTSW	11	86298577	missense	probably benign	0.00
R4940:Med13	UTSW	11	86288118	missense	probably damaging	1.00
R4974:Med13	UTSW	11	86298847	missense	probably damaging	0.98
R5056:Med13	UTSW	11	86328565	missense	probably benign	0.00
R5133:Med13	UTSW	11	86319849	missense	probably benign	0.32
R5206:Med13	UTSW	11	86319879	missense	probably damaging	1.00
R5352:Med13	UTSW	11	86301468	missense	possibly damaging	0.82
R5534:Med13	UTSW	11	86319365	missense	probably benign	0.09
R5556:Med13	UTSW	11	86327838	missense	probably benign	0.25
R5633:Med13	UTSW	11	86278931	splice site	probably benign
R5769:Med13	UTSW	11	86346003	missense	probably benign	0.11
R6236:Med13	UTSW	11	86328531	missense	probably damaging	0.99
R6479:Med13	UTSW	11	86357527	start gained	probably benign
R6487:Med13	UTSW	11	86331150	missense	probably damaging	1.00
R6524:Med13	UTSW	11	86301467	missense	probably damaging	0.98
R6528:Med13	UTSW	11	86298954	missense	probably damaging	1.00
R6805:Med13	UTSW	11	86278796	missense	possibly damaging	0.48
R6913:Med13	UTSW	11	86319876	missense	probably benign
R7221:Med13	UTSW	11	86288095	missense	probably benign	0.00
R7254:Med13	UTSW	11	86319835	missense	probably benign
R7267:Med13	UTSW	11	86308826	missense	probably benign	0.01
R7309:Med13	UTSW	11	86291062	missense	probably benign	0.00
R7404:Med13	UTSW	11	86286446	missense	possibly damaging	0.53
R7586:Med13	UTSW	11	86271002	missense	probably damaging	0.99
R7704:Med13	UTSW	11	86345918	nonsense	probably null
R7922:Med13	UTSW	11	86271005	missense	probably damaging	0.98
R7943:Med13	UTSW	11	86278526	missense	probably damaging	0.97
R8062:Med13	UTSW	11	86319438	missense	probably benign
R8075:Med13	UTSW	11	86272470	missense	probably damaging	0.98
R8207:Med13	UTSW	11	86303549	missense	probably damaging	1.00
R8671:Med13	UTSW	11	86271097	missense	probably damaging	1.00
R9056:Med13	UTSW	11	86298834	nonsense	probably null
R9084:Med13	UTSW	11	86300795	missense	probably damaging	1.00
R9148:Med13	UTSW	11	86301471	missense	probably benign	0.27
R9329:Med13	UTSW	11	86298457	missense	probably benign	0.10
R9380:Med13	UTSW	11	86286772	missense	probably benign	0.42
R9515:Med13	UTSW	11	86308901	missense	probably benign	0.00
R9516:Med13	UTSW	11	86288975	missense	probably benign	0.01
R9690:Med13	UTSW	11	86278844	missense	probably damaging	1.00
R9751:Med13	UTSW	11	86299158	missense	probably damaging	1.00
R9752:Med13	UTSW	11	86283321	missense	possibly damaging	0.87
R9764:Med13	UTSW	11	86286519	missense	possibly damaging	0.89
Z1176:Med13	UTSW	11	86328544	missense	possibly damaging	0.91
Z1176:Med13	UTSW	11	86345862	missense	probably benign	0.45
Z1176:Med13	UTSW	11	86355423	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGATTCTGAACTGCGTTCCTACAC -3'
(R):5'- ACTTACCAATGCACTCCAGTGATGG -3'

Sequencing Primer
(F):5'- TGAACTGCGTTCCTACACTAGAG -3'
(R):5'- TAGCTCTGTCGTAGACTCAGAAAAC -3'

Posted On

2013-07-30