Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01859:Med13'

178241

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 #

IGL01859

Quality Score

Status

Chromosome

Chromosomal Location

86157859-86248422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86174577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1749 (D1749E)

Ref Sequence

ENSEMBL: ENSMUSP00000044268 (fasta)

Gene Model

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

AlphaFold

Q5SWW4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043624
AA Change: D1749E

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044268
Gene: ENSMUSG00000034297
AA Change: D1749E

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: ENSMUST00000140514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143819

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 103,963,336 (GRCm39)		probably benign	Het
Ak7	A	G	12: 105,711,556 (GRCm39)	M398V	probably null	Het
Angptl3	C	T	4: 98,925,669 (GRCm39)	R332*	probably null	Het
Ano7	A	G	1: 93,322,168 (GRCm39)	Y392C	probably damaging	Het
Arpc1b	T	C	5: 145,060,540 (GRCm39)	F18L	probably damaging	Het
Cdc23	G	T	18: 34,784,459 (GRCm39)	P73Q	probably benign	Het
Cdkl1	A	C	12: 69,806,903 (GRCm39)	L111R	probably damaging	Het
Cntnap2	A	G	6: 46,965,655 (GRCm39)	D822G	probably damaging	Het
Col6a5	G	A	9: 105,808,160 (GRCm39)	R963*	probably null	Het
Crocc	T	C	4: 140,756,601 (GRCm39)	D1008G	probably benign	Het
Dntt	G	T	19: 41,025,743 (GRCm39)	M120I	probably benign	Het
Dock1	A	G	7: 134,678,890 (GRCm39)	Y1003C	possibly damaging	Het
Fam178b	T	A	1: 36,698,446 (GRCm39)	R92W	probably damaging	Het
Fermt2	A	G	14: 45,697,413 (GRCm39)	V646A	possibly damaging	Het
Foxc1	T	C	13: 31,992,706 (GRCm39)	S506P	unknown	Het
Gtpbp1	T	A	15: 79,603,341 (GRCm39)	V610E	probably benign	Het
H2-T15	A	T	17: 36,368,903 (GRCm39)	M59K	possibly damaging	Het
Hsdl2	T	C	4: 59,601,569 (GRCm39)		probably null	Het
Itgb8	T	A	12: 119,153,680 (GRCm39)	R278S	probably damaging	Het
Kcnh7	T	A	2: 62,552,132 (GRCm39)	D953V	probably benign	Het
Mocos	G	T	18: 24,799,717 (GRCm39)		probably benign	Het
Pcdhb20	T	G	18: 37,637,616 (GRCm39)	N47K	probably damaging	Het
Phf21a	T	A	2: 92,158,701 (GRCm39)	F227L	probably damaging	Het
Piezo2	T	C	18: 63,225,915 (GRCm39)	E907G	probably benign	Het
Pla2g4e	G	T	2: 120,013,214 (GRCm39)	Q369K	possibly damaging	Het
Ppp3cb	A	G	14: 20,559,517 (GRCm39)	I413T	probably damaging	Het
Ptgis	A	G	2: 167,056,726 (GRCm39)		probably null	Het
Rasgrp1	A	G	2: 117,119,899 (GRCm39)	V452A	probably benign	Het
Rbms3	T	A	9: 116,788,606 (GRCm39)	D105V	probably damaging	Het
Rnase1	C	A	14: 51,383,260 (GRCm39)	Q31H	probably benign	Het
Rnase13	G	T	14: 52,159,760 (GRCm39)	N126K	probably damaging	Het
Sema5b	G	T	16: 35,467,479 (GRCm39)	V248L	possibly damaging	Het
Serpinb12	G	A	1: 106,881,564 (GRCm39)		probably null	Het
Slc4a11	A	T	2: 130,526,914 (GRCm39)	L738Q	probably damaging	Het
Spta1	A	T	1: 174,001,938 (GRCm39)	I23F	probably damaging	Het
Stk-ps2	A	T	1: 46,069,202 (GRCm39)		noncoding transcript	Het
Tcp1	A	G	17: 13,141,571 (GRCm39)	E350G	possibly damaging	Het
Tonsl	T	C	15: 76,518,980 (GRCm39)	K518E	probably damaging	Het
Trim34a	A	G	7: 103,910,149 (GRCm39)	E317G	probably damaging	Het
Trit1	A	G	4: 122,943,344 (GRCm39)	S335G	probably benign	Het
Usp28	G	T	9: 48,935,321 (GRCm39)	E91*	probably null	Het
Vmn2r56	A	G	7: 12,449,932 (GRCm39)	L102P	probably damaging	Het
Wwtr1	A	C	3: 57,384,938 (GRCm39)	L203R	possibly damaging	Het
Zfp110	T	C	7: 12,583,467 (GRCm39)	V705A	possibly damaging	Het
Zfp955a	T	C	17: 33,462,693 (GRCm39)	N67S	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
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

2014-05-07