Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01391:Med13'

79232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med13

Ensembl Gene

ENSMUSG00000034297

Gene Name

mediator complex subunit 13

Synonyms

1110067M05Rik, Thrap1, Trap240

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

IGL01391

Quality Score

Status

Chromosome

Chromosomal Location

86157859-86248422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86219323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 374 (H374Q)

Ref Sequence

ENSEMBL: ENSMUSP00000044268 (fasta)

Gene Model

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

AlphaFold

Q5SWW4

Predicted Effect

probably benign
Transcript: ENSMUST00000043624
AA Change: H374Q

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

SMART Domains

Protein: ENSMUSP00000044268
Gene: ENSMUSG00000034297
AA Change: H374Q

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: ENSMUST00000144983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157605

Coding Region Coverage

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
Ap3m2	T	A	8: 23,289,663 (GRCm39)	I147F	probably benign	Het
Areg	T	A	5: 91,288,954 (GRCm39)	S87T	probably damaging	Het
Arid1b	T	A	17: 5,369,133 (GRCm39)		probably benign	Het
Arl6ip6	A	G	2: 53,082,156 (GRCm39)	R8G	probably benign	Het
Brms1	A	G	19: 5,096,723 (GRCm39)	E135G	possibly damaging	Het
Ccser1	A	G	6: 61,615,505 (GRCm39)		probably benign	Het
Dock3	A	T	9: 106,784,433 (GRCm39)	M258K	possibly damaging	Het
Epb41l4a	T	G	18: 33,934,678 (GRCm39)	D562A	possibly damaging	Het
Etaa1	G	A	11: 17,896,005 (GRCm39)	T704I	probably damaging	Het
Fer1l4	T	A	2: 155,878,376 (GRCm39)	H972L	probably damaging	Het
Foxn1	A	G	11: 78,252,320 (GRCm39)	M356T	probably damaging	Het
Gfral	C	A	9: 76,072,107 (GRCm39)	G388*	probably null	Het
Gm12258	A	G	11: 58,739,520 (GRCm39)	T3A	probably benign	Het
Hoxa5	T	C	6: 52,181,311 (GRCm39)	N7S	probably damaging	Het
Itgb4	T	C	11: 115,881,746 (GRCm39)	L765P	probably damaging	Het
Jchain	C	T	5: 88,669,383 (GRCm39)	C90Y	probably damaging	Het
Klhl40	A	G	9: 121,607,983 (GRCm39)	Y381C	probably damaging	Het
Lhx6	A	T	2: 35,993,477 (GRCm39)	C74S	probably benign	Het
Magel2	A	G	7: 62,030,632 (GRCm39)	S1179G	unknown	Het
Mapre3	T	C	5: 31,022,241 (GRCm39)	I236T	probably damaging	Het
Mcf2l	A	T	8: 13,064,010 (GRCm39)		probably null	Het
Meioc	A	G	11: 102,565,113 (GRCm39)	Y187C	probably benign	Het
Myh1	G	A	11: 67,108,689 (GRCm39)	M1368I	probably benign	Het
Or14a258	A	T	7: 86,035,208 (GRCm39)	I220N	possibly damaging	Het
Or8b54	A	G	9: 38,686,826 (GRCm39)	I92V	probably damaging	Het
Phrf1	T	C	7: 140,842,394 (GRCm39)	Y1501H	probably damaging	Het
Pigb	T	C	9: 72,929,573 (GRCm39)	T337A	probably damaging	Het
Pls1	T	C	9: 95,655,751 (GRCm39)	K334E	probably benign	Het
Pramel51	C	T	12: 88,145,225 (GRCm39)	V34I	possibly damaging	Het
Rab3b	T	C	4: 108,797,999 (GRCm39)	C226R	probably damaging	Het
Ryr2	A	T	13: 11,571,571 (GRCm39)	I4889N	possibly damaging	Het
Serpinb1a	G	A	13: 33,029,398 (GRCm39)	S210L	probably benign	Het
Slc52a3	A	G	2: 151,849,522 (GRCm39)	I390V	probably benign	Het
Slc6a7	C	A	18: 61,136,382 (GRCm39)	A340S	probably damaging	Het
Tcaf3	T	C	6: 42,570,615 (GRCm39)	Y379C	probably damaging	Het
Tex261	A	G	6: 83,748,222 (GRCm39)	V180A	probably benign	Het
Tnnt1	C	T	7: 4,517,211 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,798,847 (GRCm39)	T476A	possibly damaging	Het
Vcan	A	G	13: 89,852,288 (GRCm39)	S891P	probably benign	Het
Vmn2r16	T	A	5: 109,511,627 (GRCm39)	D611E	possibly damaging	Het
Vmn2r68	T	C	7: 84,886,819 (GRCm39)	T32A	probably benign	Het
Vwde	T	G	6: 13,190,526 (GRCm39)	S522R	probably benign	Het
Wdr3	G	A	3: 100,054,105 (GRCm39)		probably benign	Het
Wfs1	G	T	5: 37,128,907 (GRCm39)	Q288K	probably benign	Het
Zfp142	A	G	1: 74,618,699 (GRCm39)	V120A	probably damaging	Het
Zfp672	A	G	11: 58,208,192 (GRCm39)	F43S	probably damaging	Het
Znhit3	A	T	11: 84,802,283 (GRCm39)		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
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
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

Posted On

2013-11-05