Mutagenetix > Incidental Mutation

Incidental Mutation 'R0589:Med13'

55887

Institutional Source

Beutler Lab

Gene Symbol

Med13

Ensembl Gene

ENSMUSG00000034297

Gene Name

mediator complex subunit 13

Synonyms

1110067M05Rik, Thrap1, Trap240

MMRRC Submission

038779-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R0589 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

86157859-86248422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86174075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1808 (Y1808H)

Ref Sequence

ENSEMBL: ENSMUSP00000044268 (fasta)

Gene Model

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

AlphaFold

Q5SWW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043624
AA Change: Y1808H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044268
Gene: ENSMUSG00000034297
AA Change: Y1808H

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: ENSMUST00000136622

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143819

Meta Mutation Damage Score

0.0985

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.1%

Validation Efficiency

98% (62/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,833,094 (GRCm39)	A1202E	probably damaging	Het
Abcc12	A	T	8: 87,287,101 (GRCm39)	I155N	possibly damaging	Het
Atf4	T	A	15: 80,140,640 (GRCm39)	H47Q	probably damaging	Het
Atm	T	A	9: 53,401,492 (GRCm39)	D1459V	possibly damaging	Het
Bicral	A	G	17: 47,112,522 (GRCm39)	S893P	probably benign	Het
Camk2a	G	A	18: 61,097,036 (GRCm39)		probably null	Het
Cebpz	G	A	17: 79,244,308 (GRCm39)	T51I	probably damaging	Het
Cers5	A	T	15: 99,638,837 (GRCm39)	D208E	probably damaging	Het
Cimip2b	T	C	4: 43,427,355 (GRCm39)		probably benign	Het
Cyp1a2	T	C	9: 57,586,345 (GRCm39)	D391G	possibly damaging	Het
Dct	G	T	14: 118,280,682 (GRCm39)	F111L	probably benign	Het
Ddb1	T	G	19: 10,599,080 (GRCm39)	I529S	probably benign	Het
Dhx9	G	T	1: 153,348,037 (GRCm39)	Q361K	probably damaging	Het
Dnai3	A	G	3: 145,768,086 (GRCm39)	S592P	probably benign	Het
Erbin	G	T	13: 104,022,795 (GRCm39)	R15S	probably damaging	Het
F13b	T	C	1: 139,434,671 (GRCm39)	S146P	possibly damaging	Het
Ggnbp2	A	T	11: 84,727,277 (GRCm39)	C520S	probably damaging	Het
Gpx3	A	G	11: 54,800,329 (GRCm39)	I208V	probably benign	Het
Grk3	A	G	5: 113,076,629 (GRCm39)		probably benign	Het
Heatr9	T	C	11: 83,405,516 (GRCm39)		probably benign	Het
Heg1	T	G	16: 33,552,077 (GRCm39)	I762R	probably damaging	Het
Ints11	A	T	4: 155,971,343 (GRCm39)	T264S	probably damaging	Het
Ints14	T	C	9: 64,887,113 (GRCm39)	L348P	probably damaging	Het
Maco1	C	A	4: 134,555,528 (GRCm39)	C315F	probably benign	Het
Marf1	C	A	16: 13,959,919 (GRCm39)		probably benign	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Mrpl45	A	T	11: 97,214,714 (GRCm39)	T134S	probably benign	Het
Myh8	A	G	11: 67,189,453 (GRCm39)	I1210V	probably benign	Het
Nsd3	T	C	8: 26,131,303 (GRCm39)	S223P	probably damaging	Het
Or2j6	T	G	7: 139,980,813 (GRCm39)	S49R	possibly damaging	Het
Or4c115	A	G	2: 88,927,606 (GRCm39)	F222L	probably benign	Het
Or5be3	A	T	2: 86,864,459 (GRCm39)	Y35*	probably null	Het
P3h3	T	A	6: 124,818,644 (GRCm39)	E731D	probably damaging	Het
Pcdhac2	A	G	18: 37,279,527 (GRCm39)	R836G	probably benign	Het
Pdzd2	A	G	15: 12,376,385 (GRCm39)	V1250A	probably benign	Het
Pgbd1	G	A	13: 21,618,600 (GRCm39)	T19I	possibly damaging	Het
Phtf2	T	A	5: 21,018,249 (GRCm39)	R31*	probably null	Het
Plod2	T	A	9: 92,475,799 (GRCm39)	V294D	probably benign	Het
Rassf5	C	T	1: 131,172,720 (GRCm39)	G50R	probably damaging	Het
Rexo5	A	G	7: 119,444,606 (GRCm39)	T694A	probably benign	Het
Rtcb	A	C	10: 85,787,315 (GRCm39)	S82A	probably damaging	Het
Rufy4	T	C	1: 74,172,042 (GRCm39)	L255P	probably damaging	Het
Slc35c1	A	G	2: 92,284,859 (GRCm39)	F252L	probably damaging	Het
Slco6d1	A	T	1: 98,427,472 (GRCm39)		probably benign	Het
Sox10	T	G	15: 79,047,485 (GRCm39)		probably benign	Het
Stard9	A	G	2: 120,529,028 (GRCm39)	M1762V	probably benign	Het
Stat3	A	T	11: 100,798,909 (GRCm39)	Y94N	probably damaging	Het
Tasor	T	C	14: 27,183,107 (GRCm39)	I522T	probably benign	Het
Tecta	T	A	9: 42,256,930 (GRCm39)	Y1582F	probably benign	Het
Tex44	A	G	1: 86,355,453 (GRCm39)	D454G	probably damaging	Het
Tle6	A	G	10: 81,431,253 (GRCm39)		probably benign	Het
Tmod2	T	C	9: 75,484,041 (GRCm39)	E303G	probably damaging	Het
Trem1	A	G	17: 48,544,245 (GRCm39)	D90G	possibly damaging	Het
Trhde	A	T	10: 114,284,229 (GRCm39)	D751E	probably benign	Het
Ttn	A	T	2: 76,795,589 (GRCm39)		probably null	Het
Vars2	T	C	17: 35,970,068 (GRCm39)	T774A	probably benign	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
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
R7254:Med13	UTSW	11	86,210,661 (GRCm39)	missense	probably benign
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'- cttaactgccaggccCTAAAGTTTCAA -3'
(R):5'- TGTCGGAGACCACTTCCAACATCAA -3'

Sequencing Primer
(F):5'- agagagtcacttgtttccacc -3'
(R):5'- gaaaccctgtctccaaaaacc -3'

Posted On

2013-07-11