Mutagenetix > Incidental Mutation

Incidental Mutation 'R8075:Med13'

628978

Institutional Source

Beutler Lab

Gene Symbol

Med13

Ensembl Gene

ENSMUSG00000034297

Gene Name

mediator complex subunit 13

Synonyms

1110067M05Rik, Thrap1, Trap240

MMRRC Submission

067509-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R8075 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86157859-86248422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86163296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 2126 (V2126F)

Ref Sequence

ENSEMBL: ENSMUSP00000044268 (fasta)

Gene Model

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

AlphaFold

Q5SWW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043624
AA Change: V2126F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044268
Gene: ENSMUSG00000034297
AA Change: V2126F

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: 99.8%
3x: 99.7%
10x: 98.8%
20x: 95.6%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	T	5: 121,790,148 (GRCm39)	H69Q	probably benign	Het
Aif1	T	A	17: 35,390,811 (GRCm39)	N87Y	unknown	Het
Caprin2	A	T	6: 148,770,590 (GRCm39)	V468E	probably benign	Het
Cep68	A	T	11: 20,189,335 (GRCm39)	V559D	probably benign	Het
Chrna4	A	C	2: 180,680,859 (GRCm39)	I3S	unknown	Het
Cog3	T	C	14: 75,968,142 (GRCm39)	Y407C	probably damaging	Het
Col15a1	A	G	4: 47,208,359 (GRCm39)	H3R	probably benign	Het
Ctxn1	A	G	8: 4,308,553 (GRCm39)	V26A	probably benign	Het
Cyp27b1	A	C	10: 126,887,382 (GRCm39)	T405P	probably damaging	Het
Cyp2c65	A	G	19: 39,060,682 (GRCm39)	I181V	probably benign	Het
Dusp6	T	A	10: 99,100,810 (GRCm39)	S269T	possibly damaging	Het
Efcab6	A	T	15: 83,851,824 (GRCm39)	D351E	probably damaging	Het
Fam181a	A	T	12: 103,282,296 (GRCm39)	H67L	possibly damaging	Het
Fbxl18	A	G	5: 142,871,861 (GRCm39)	L458P	probably damaging	Het
Flnb	T	C	14: 7,913,048 (GRCm38)	I1439T	probably benign	Het
Foxj2	C	T	6: 122,815,055 (GRCm39)	Q364*	probably null	Het
Gm3138	A	T	14: 4,250,532 (GRCm38)	N55Y	probably damaging	Het
Hmcn2	A	G	2: 31,279,403 (GRCm39)	T1802A	possibly damaging	Het
Hoxc6	T	C	15: 102,919,325 (GRCm39)	I187T	probably damaging	Het
Ighg3	T	A	12: 113,321,097 (GRCm39)	I387F		Het
Insr	A	T	8: 3,205,862 (GRCm39)	M1309K	probably benign	Het
Itsn1	A	T	16: 91,686,097 (GRCm39)	N1290I	unknown	Het
Jag2	C	A	12: 112,878,894 (GRCm39)	R509L	probably benign	Het
Kctd11	T	A	11: 69,771,095 (GRCm39)		probably benign	Het
Mknk2	G	A	10: 80,507,982 (GRCm39)		probably benign	Het
Oga	A	T	19: 45,749,621 (GRCm39)	N699K	probably damaging	Het
Or52l1	T	G	7: 104,830,343 (GRCm39)	H74P	probably damaging	Het
Or5m13b	A	G	2: 85,754,470 (GRCm39)	N286S	probably benign	Het
Pdzrn4	T	C	15: 92,575,605 (GRCm39)	V337A	probably damaging	Het
Pik3c3	A	G	18: 30,438,082 (GRCm39)	N491D	probably damaging	Het
Pla2g12b	T	A	10: 59,257,274 (GRCm39)	S96T	unknown	Het
Rab37	G	T	11: 114,982,759 (GRCm39)		probably null	Het
Rp9	G	A	9: 22,368,788 (GRCm39)	T57M	probably damaging	Het
Rrp12	A	G	19: 41,851,713 (GRCm39)	V1274A	probably damaging	Het
Serpinb11	G	A	1: 107,298,519 (GRCm39)	V57M	probably damaging	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc39a14	A	T	14: 70,546,247 (GRCm39)	I392N	possibly damaging	Het
Sowahb	G	A	5: 93,192,276 (GRCm39)	Q148*	probably null	Het
Spon1	T	C	7: 113,616,026 (GRCm39)		probably null	Het
Susd4	C	A	1: 182,592,748 (GRCm39)	T48K	possibly damaging	Het
Taf4b	T	C	18: 14,916,749 (GRCm39)	V33A	possibly damaging	Het
Tas2r139	T	A	6: 42,118,154 (GRCm39)	N95K	probably benign	Het
Tle3	T	C	9: 61,281,841 (GRCm39)	M57T	probably benign	Het
Usp13	T	A	3: 32,985,852 (GRCm39)	M815K	probably damaging	Het
Vps8	A	G	16: 21,340,644 (GRCm39)	D796G	probably damaging	Het
Wnk1	C	T	6: 119,909,675 (GRCm39)	G41S	probably damaging	Het
Zfp867	A	G	11: 59,355,066 (GRCm39)	S88P	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
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
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
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'- TTTACCAAGCCAGCACAGG -3'
(R):5'- CACTGTCATAAGATCAGTTTCATCAGG -3'

Sequencing Primer
(F):5'- CACAGGCACTATGCTTTGTC -3'
(R):5'- GGATAATACATTAGGAGAACACAGTG -3'

Posted On

2020-06-30