Mutagenetix > Incidental Mutation

Incidental Mutation 'R5534:Med13'

434728

Institutional Source

Beutler Lab

Gene Symbol

Med13

Ensembl Gene

ENSMUSG00000034297

Gene Name

mediator complex subunit 13

Synonyms

Thrap1, 1110067M05Rik, Trap240

MMRRC Submission

043092-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R5534 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86267033-86357602 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86319365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 650 (S650R)

Ref Sequence

ENSEMBL: ENSMUSP00000044268 (fasta)

Gene Model

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

AlphaFold

Q5SWW4

Predicted Effect

probably benign
Transcript: ENSMUST00000043624
AA Change: S650R

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000044268
Gene: ENSMUSG00000034297
AA Change: S650R

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,228,835	F2188L	probably benign	Het
Adam18	T	A	8: 24,665,514	D163V	probably benign	Het
Ank2	A	T	3: 126,947,298		probably benign	Het
Ankmy1	T	C	1: 92,886,720	E355G	probably damaging	Het
Ankmy2	A	G	12: 36,182,492	N172S	probably damaging	Het
Ankrd50	A	G	3: 38,456,082	M712T	probably damaging	Het
Apcdd1	T	C	18: 62,937,034	I124T	probably benign	Het
Carmil3	A	G	14: 55,494,890	K256R	probably damaging	Het
Cass4	G	T	2: 172,426,768	V259L	probably benign	Het
Ccdc141	A	G	2: 77,057,897	V508A	probably benign	Het
Ccdc33	A	G	9: 58,117,167	S226P	possibly damaging	Het
Cep72	T	C	13: 74,062,216	E9G	probably benign	Het
Clca4b	A	T	3: 144,915,466	Y616N	probably damaging	Het
Cnot4	A	G	6: 35,078,004	S117P	possibly damaging	Het
Col11a2	C	T	17: 34,051,024	A429V	probably damaging	Het
Col4a4	T	C	1: 82,487,517	E979G	unknown	Het
Coq10b	T	C	1: 55,064,200	Y46H	possibly damaging	Het
Dnah17	T	C	11: 118,052,770	T3169A	possibly damaging	Het
Dock6	G	A	9: 21,803,076	R1824*	probably null	Het
Dsp	A	C	13: 38,195,842	I1589L	probably benign	Het
Edil3	A	G	13: 89,199,474	T383A	probably benign	Het
Efemp1	T	C	11: 28,867,758	V79A	probably damaging	Het
Esyt1	C	T	10: 128,519,460	V471I	probably benign	Het
Fbxo30	T	C	10: 11,289,665	S44P	possibly damaging	Het
Fdx1l	G	T	9: 21,073,266	D57E	probably benign	Het
Gbp11	A	T	5: 105,331,038	V178D	probably damaging	Het
Gm13084	G	T	4: 143,812,599	S108*	probably null	Het
Gna11	A	T	10: 81,531,133	I283N	probably damaging	Het
Grid2	A	T	6: 63,503,361	Q53L	probably benign	Het
Jmjd6	A	G	11: 116,840,426	S266P	probably damaging	Het
Kdelc1	C	T	1: 44,112,677	V351M	probably damaging	Het
Kirrel	G	A	3: 87,090,518	R233C	probably damaging	Het
Kmt2d	A	G	15: 98,837,357		probably benign	Het
Lama3	A	T	18: 12,553,210	T1171S	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Meltf	T	A	16: 31,890,814		probably null	Het
Mgat1	T	C	11: 49,261,149	V153A	probably benign	Het
Mmp16	A	T	4: 18,110,452	D416V	probably damaging	Het
Myh3	A	T	11: 67,097,044	R1448W	probably damaging	Het
Nedd1	A	T	10: 92,695,032	F398L	probably benign	Het
Olfr1009	T	C	2: 85,721,987	I194T	probably benign	Het
Olfr1295	T	C	2: 111,565,004	T147A	probably benign	Het
Olfr199	T	C	16: 59,216,040	D191G	probably benign	Het
Olfr237-ps1	A	G	6: 43,153,633	I109M	probably benign	Het
Otud3	A	G	4: 138,897,583	L269P	probably damaging	Het
Otx1	A	G	11: 21,996,296		probably benign	Het
Pcdhga7	A	C	18: 37,716,278	D446A	probably damaging	Het
Pcnx2	T	G	8: 125,838,015	K1046N	possibly damaging	Het
Pfkp	C	A	13: 6,648,583	G33W	probably damaging	Het
Pold1	A	G	7: 44,538,619	I585T	probably damaging	Het
Pole4	A	G	6: 82,652,134	Y84H	possibly damaging	Het
Ptpn23	A	G	9: 110,392,741	S126P	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rin3	T	C	12: 102,387,632	L766P	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rras2	G	A	7: 114,050,415	T138I	possibly damaging	Het
Scrn2	A	G	11: 97,030,925	I74V	probably benign	Het
Sema6d	T	C	2: 124,659,815	I526T	possibly damaging	Het
Shd	G	T	17: 55,971,577	E47*	probably null	Het
Slc22a27	T	C	19: 7,926,631	H47R	probably damaging	Het
Slc36a3	C	G	11: 55,142,769	W141S	possibly damaging	Het
Slc9c1	T	A	16: 45,556,614	V429E	probably benign	Het
Smg8	A	T	11: 87,085,470	D428E	probably benign	Het
Snrpe	A	T	1: 133,606,473	F84Y	probably benign	Het
Tbc1d2b	C	T	9: 90,227,506	D306N	possibly damaging	Het
Trav9n-4	A	G	14: 53,294,899	Y70C	probably damaging	Het
Ush1c	A	G	7: 46,221,423	I330T	probably damaging	Het
Wnt11	T	C	7: 98,839,142	L12P	probably damaging	Het
Zan	A	G	5: 137,438,451	S2047P	unknown	Het
Zcchc6	A	G	13: 59,788,553	F843L	probably damaging	Het
Zfp763	A	C	17: 33,021,794	S20R	probably damaging	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
R0711:Med13	UTSW	11	86301353	splice site	probably benign
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
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'- GACAGACACTGAAGTTTTGACAC -3'
(R):5'- CAGGAAGCTGTAGAACCTACCG -3'

Sequencing Primer
(F):5'- CTATAACCAAGCCTAGCATC -3'
(R):5'- AACCTACCGTGTATGTTGGTACAGC -3'

Posted On

2016-10-24