Mutagenetix > Incidental Mutation

Incidental Mutation 'R6805:Med13'

533546

Institutional Source

Beutler Lab

Gene Symbol

Med13

Ensembl Gene

ENSMUSG00000034297

Gene Name

mediator complex subunit 13

Synonyms

1110067M05Rik, Thrap1, Trap240

MMRRC Submission

044918-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R6805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86157859-86248422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86169622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1914 (M1914K)

Ref Sequence

ENSEMBL: ENSMUSP00000044268 (fasta)

Gene Model

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

AlphaFold

Q5SWW4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043624
AA Change: M1914K

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044268
Gene: ENSMUSG00000034297
AA Change: M1914K

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

Meta Mutation Damage Score

0.5367

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 97.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,946,744 (GRCm39)	T214A	possibly damaging	Het
A930009A15Rik	G	T	10: 115,415,810 (GRCm39)		probably benign	Het
Aadac	A	C	3: 59,944,757 (GRCm39)	D143A	probably benign	Het
Acot10	T	G	15: 20,665,452 (GRCm39)	T430P	probably benign	Het
Adgrb3	T	C	1: 25,865,253 (GRCm39)	T197A	possibly damaging	Het
Bbs1	A	G	19: 4,950,643 (GRCm39)	I200T	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cadps	G	A	14: 12,467,103 (GRCm38)	A943V	probably damaging	Het
Cc2d2a	A	G	5: 43,838,673 (GRCm39)	E48G	probably damaging	Het
Clca3a1	A	T	3: 144,724,428 (GRCm39)	C211S	probably damaging	Het
Col18a1	A	G	10: 76,890,073 (GRCm39)	L1429P	probably damaging	Het
Cplane1	T	C	15: 8,273,790 (GRCm39)	V2591A	probably benign	Het
Cul2	T	G	18: 3,421,263 (GRCm39)	Y196D	probably damaging	Het
D630023F18Rik	T	C	1: 65,156,365 (GRCm39)	S43G	probably benign	Het
Ddx39a	G	A	8: 84,449,766 (GRCm39)	R427Q	probably damaging	Het
Def6	A	G	17: 28,442,691 (GRCm39)	T285A	probably damaging	Het
Defb21	T	A	2: 152,416,789 (GRCm39)	D88E	probably benign	Het
Defb6	A	G	8: 19,278,117 (GRCm39)	K63R	probably benign	Het
Dnph1	T	C	17: 46,809,670 (GRCm39)	S112P	probably damaging	Het
Dock10	T	A	1: 80,564,407 (GRCm39)	I467L	probably benign	Het
Dspp	C	A	5: 104,323,716 (GRCm39)	H286Q	probably benign	Het
Eya1	T	A	1: 14,253,501 (GRCm39)	T459S	probably benign	Het
Faf1	T	C	4: 109,719,049 (GRCm39)	L385P	probably damaging	Het
Fbxw21	C	A	9: 108,986,633 (GRCm39)	R82L	probably damaging	Het
Fryl	A	G	5: 73,222,437 (GRCm39)	V2048A	probably benign	Het
Galnt5	A	T	2: 57,925,311 (GRCm39)	D864V	possibly damaging	Het
Gata6	T	G	18: 11,054,460 (GRCm39)	S130A	possibly damaging	Het
Gbf1	G	T	19: 46,250,946 (GRCm39)	R434L	probably damaging	Het
Gga3	A	G	11: 115,476,588 (GRCm39)	F709L	probably damaging	Het
Hcar1	A	G	5: 124,017,193 (GRCm39)	V166A	probably benign	Het
Hexa	T	A	9: 59,471,220 (GRCm39)	N491K	possibly damaging	Het
Hpse2	A	T	19: 43,282,760 (GRCm39)	C164*	probably null	Het
Ifi202b	T	C	1: 173,802,555 (GRCm39)	Y93C	probably damaging	Het
Iftap	T	C	2: 101,396,804 (GRCm39)	K192E	probably benign	Het
Iscu	T	A	5: 113,913,304 (GRCm39)	I79N	probably damaging	Het
Jmjd7	T	A	2: 119,861,804 (GRCm39)	Y182*	probably null	Het
Jup	A	T	11: 100,274,284 (GRCm39)	D135E	probably benign	Het
Kit	T	A	5: 75,813,468 (GRCm39)	I881N	probably damaging	Het
Llgl1	T	A	11: 60,593,691 (GRCm39)	S55T	probably benign	Het
Lonp2	G	A	8: 87,435,724 (GRCm39)	M653I	probably benign	Het
Lrp8	T	C	4: 107,711,517 (GRCm39)	Y307H	probably damaging	Het
Ms4a1	A	G	19: 11,230,537 (GRCm39)		probably null	Het
Naip1	A	G	13: 100,563,849 (GRCm39)	S439P	probably benign	Het
Nrg1	T	C	8: 32,311,292 (GRCm39)	R476G	probably damaging	Het
Or10ag59	T	A	2: 87,405,262 (GRCm39)		probably null	Het
Or7g20	G	T	9: 18,946,597 (GRCm39)	M59I	probably damaging	Het
Pds5b	T	A	5: 150,729,026 (GRCm39)		probably null	Het
Phf12	G	A	11: 77,918,199 (GRCm39)	G804R	probably damaging	Het
Pou6f2	T	C	13: 18,414,074 (GRCm39)	T234A		Het
Prune2	A	T	19: 17,097,954 (GRCm39)	I1153L	probably benign	Het
Ptprc	C	T	1: 137,995,623 (GRCm39)		probably null	Het
Qpctl	T	C	7: 18,883,079 (GRCm39)	Q11R	probably benign	Het
Rfx4	A	G	10: 84,676,092 (GRCm39)	K103E	possibly damaging	Het
Srcin1	T	A	11: 97,442,806 (GRCm39)		probably null	Het
St6galnac1	G	T	11: 116,659,770 (GRCm39)	A181D	probably damaging	Het
Stk36	T	C	1: 74,661,398 (GRCm39)	V475A	probably benign	Het
Tbc1d21	T	C	9: 58,268,571 (GRCm39)	T263A	possibly damaging	Het
Tex24	A	T	8: 27,835,028 (GRCm39)	K185N	probably damaging	Het
Tnxb	T	A	17: 34,917,127 (GRCm39)	V2174E	possibly damaging	Het
Tollip	A	G	7: 141,444,582 (GRCm39)	S57P	probably benign	Het
Zbtb49	A	G	5: 38,370,585 (GRCm39)		probably benign	Het
Zfp758	A	G	17: 22,580,650 (GRCm39)	T30A	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
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'- ATTTAGCTGAGGCGTCTGC -3'
(R):5'- TTCATCGTCAGTCTCATAACAGAGC -3'

Sequencing Primer
(F):5'- GAGTGGTACTTCTTCCAAAAACAG -3'
(R):5'- CAGAGCAGTAACTTTAAGTACTGTCC -3'

Posted On

2018-09-12