Mutagenetix > Incidental Mutation

Incidental Mutation 'R4974:Med13'

382508

Institutional Source

Beutler Lab

Gene Symbol

Med13

Ensembl Gene

ENSMUSG00000034297

Gene Name

mediator complex subunit 13

Synonyms

Thrap1, 1110067M05Rik, Trap240

MMRRC Submission

042569-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R4974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86267033-86357602 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86298847 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1079 (S1079T)

Ref Sequence

ENSEMBL: ENSMUSP00000044268 (fasta)

Gene Model

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

AlphaFold

Q5SWW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043624
AA Change: S1079T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044268
Gene: ENSMUSG00000034297
AA Change: S1079T

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: ENSMUST00000143819

Meta Mutation Damage Score

0.1320

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (94/97)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	T	19: 45,820,287	F655Y	probably damaging	Het
A730061H03Rik	C	T	14: 55,560,117		probably benign	Het
Acsf2	A	C	11: 94,569,329	M399R	possibly damaging	Het
Adra2c	C	A	5: 35,280,924	R347S	probably benign	Het
Akap9	A	G	5: 3,961,466	K723R	possibly damaging	Het
Anxa9	A	C	3: 95,308,013		probably benign	Het
Aqr	T	C	2: 114,113,351	H1102R	probably damaging	Het
Arrdc2	A	G	8: 70,837,518	V173A	probably benign	Het
Aspm	T	C	1: 139,478,010	V1545A	probably benign	Het
Bbs5	C	T	2: 69,647,234		probably benign	Het
Bnip2	A	G	9: 70,003,434	T255A	possibly damaging	Het
Cacna1b	T	C	2: 24,648,523	T1531A	probably damaging	Het
Cast	T	C	13: 74,807,823	K9R	probably benign	Het
Cfap46	A	T	7: 139,607,188		probably null	Het
Cfap57	G	T	4: 118,593,054	L624M	probably damaging	Het
Cyp2c39	A	T	19: 39,563,879	M339L	probably benign	Het
Dcst1	T	A	3: 89,357,803	T247S	probably benign	Het
Dnajc18	T	A	18: 35,683,319	I189F	possibly damaging	Het
Eef2kmt	T	C	16: 5,249,012	T126A	probably benign	Het
Epha2	A	G	4: 141,321,705	E624G	probably damaging	Het
Erbb3	G	A	10: 128,572,448	H866Y	probably benign	Het
F13a1	C	T	13: 36,916,863		probably null	Het
Fgd3	T	A	13: 49,278,602	N392I	probably damaging	Het
Fgf7	A	T	2: 126,088,240	M98L	probably benign	Het
G2e3	T	A	12: 51,369,139	S553T	probably benign	Het
Glipr1	C	A	10: 111,993,506	E117*	probably null	Het
Gm11060	A	T	2: 105,093,783		probably benign	Het
Gm4787	A	G	12: 81,377,629	I585T	probably damaging	Het
Gm6055	A	T	14: 48,079,458		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,279,545		probably benign	Het
Gpt2	T	A	8: 85,519,439		probably benign	Het
Gtf2ird1	A	T	5: 134,357,831	Y345*	probably null	Het
Hmcn1	T	A	1: 150,819,449	T235S	probably benign	Het
Igkv5-48	A	G	6: 69,726,754	Y56H	possibly damaging	Het
Il17re	C	T	6: 113,469,569	T427I	probably benign	Het
Itpr3	A	T	17: 27,083,608	D80V	probably damaging	Het
Kif21a	G	T	15: 90,949,010	H1317N	probably benign	Het
Kif28	T	C	1: 179,698,644	K144E	probably damaging	Het
Kif4-ps	A	C	12: 101,147,071		noncoding transcript	Het
Klk11	C	T	7: 43,777,736	T148I	probably damaging	Het
Klkb1	T	A	8: 45,286,958	H99L	probably damaging	Het
Kpna6	A	C	4: 129,656,405		probably null	Het
Lama3	G	T	18: 12,552,826	K1132N	probably damaging	Het
Lcp1	T	A	14: 75,208,471	L264*	probably null	Het
Map2	T	C	1: 66,413,505	V360A	probably benign	Het
Mettl13	A	G	1: 162,537,220	M162T	probably damaging	Het
Mppe1	T	G	18: 67,228,062	E208A	probably benign	Het
Msantd2	A	C	9: 37,489,379	K19T	possibly damaging	Het
Mylk3	A	G	8: 85,364,783	V131A	probably damaging	Het
Myocd	A	T	11: 65,183,473	S609T	possibly damaging	Het
Ncbp3	G	A	11: 73,053,529		probably null	Het
Neb	T	A	2: 52,246,859	L3203F	probably damaging	Het
Notch2	C	A	3: 98,139,633	T1756K	probably benign	Het
Nphp4	A	T	4: 152,537,793	R544W	probably damaging	Het
Olfr1179	T	G	2: 88,402,412	H174P	probably damaging	Het
Olfr368	A	T	2: 37,332,566	D273V	probably damaging	Het
Olfr402	A	T	11: 74,155,919	Y255F	probably benign	Het
Parp4	T	A	14: 56,589,898	V163E	possibly damaging	Het
Pcdhgb1	C	A	18: 37,682,372	Q639K	probably benign	Het
Pcnx2	A	G	8: 125,851,130	V936A	probably benign	Het
Pcsk7	T	A	9: 45,918,862	M418K	probably damaging	Het
Pglyrp4	T	C	3: 90,733,007	I188T	probably benign	Het
Pgs1	A	G	11: 118,005,519	R339G	probably benign	Het
Pik3r3	A	G	4: 116,286,191	I294V	probably benign	Het
Pik3r6	A	G	11: 68,539,945	D520G	probably damaging	Het
Pkdrej	A	G	15: 85,820,409	V442A	probably benign	Het
Ppfibp1	T	A	6: 147,030,419		probably benign	Het
Ppp3ca	C	A	3: 136,935,049	Q454K	possibly damaging	Het
Ppp5c	A	T	7: 17,009,936	M191K	probably damaging	Het
Prl4a1	A	T	13: 28,023,325	Y194F	possibly damaging	Het
Ptpn21	G	T	12: 98,680,103	T1032K	probably damaging	Het
Ptprh	A	T	7: 4,551,007		probably null	Het
Ptprm	T	A	17: 66,678,067	R1447S	probably benign	Het
Pxk	T	A	14: 8,140,734	D236E	probably damaging	Het
Qars	T	C	9: 108,508,931	F107S	probably damaging	Het
Rbbp6	A	G	7: 122,999,808		probably benign	Het
Rptor	A	T	11: 119,821,640		probably benign	Het
Rtn4	T	A	11: 29,740,994	M1095K	probably damaging	Het
Serpinb3b	T	A	1: 107,154,715	H273L	probably benign	Het
Sgce	G	A	6: 4,689,630	T401M	probably benign	Het
Slc12a6	C	T	2: 112,358,525	R1083W	probably damaging	Het
Slc45a4	A	T	15: 73,584,450	M635K	probably damaging	Het
Slc6a1	T	A	6: 114,307,701	V240D	probably damaging	Het
Snx9	G	A	17: 5,902,519		probably null	Het
Spred3	A	G	7: 29,167,824	V49A	probably damaging	Het
Tars	A	G	15: 11,390,391	F334S	probably damaging	Het
Tdpoz1	A	G	3: 93,671,147	V110A	probably benign	Het
Tfrc	T	G	16: 32,618,279	V252G	probably damaging	Het
Tm6sf2	T	C	8: 70,075,478		probably benign	Het
Txlnb	T	C	10: 17,838,969	V383A	probably damaging	Het
Utp20	C	A	10: 88,816,949	V368L	probably benign	Het
Vmn2r12	A	T	5: 109,091,506	V397E	probably damaging	Het
Zdhhc12	G	A	2: 30,091,526	R175W	probably damaging	Het
Zfyve9	A	G	4: 108,680,900		probably null	Het

Other mutations in Med13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Med13	APN	11	86291040	splice site	probably benign
IGL01391:Med13	APN	11	86328497	missense	probably benign
IGL01767:Med13	APN	11	86319783	missense	probably benign	0.38
IGL01830:Med13	APN	11	86288928	splice site	probably benign
IGL01859:Med13	APN	11	86283751	missense	possibly damaging	0.86
IGL01924:Med13	APN	11	86308696	splice site	probably benign
IGL02080:Med13	APN	11	86283812	missense	probably damaging	0.97
IGL02138:Med13	APN	11	86286765	missense	probably damaging	0.99
IGL02259:Med13	APN	11	86357501	missense	possibly damaging	0.89
IGL02339:Med13	APN	11	86288939	missense	probably benign	0.16
IGL02399:Med13	APN	11	86283945	splice site	probably benign
IGL02646:Med13	APN	11	86283386	missense	probably benign	0.00
IGL03227:Med13	APN	11	86327792	splice site	probably benign
R0197_Med13_854	UTSW	11	86307038	missense	probably benign	0.13
R0360_Med13_060	UTSW	11	86329161	splice site	probably benign
R2359_Med13_079	UTSW	11	86291035	splice site	probably benign
R3735_Med13_085	UTSW	11	86279658	missense	probably benign	0.00
R4974_Med13_508	UTSW	11	86298847	missense	probably damaging	0.98
R0116:Med13	UTSW	11	86319897	missense	probably damaging	0.99
R0189:Med13	UTSW	11	86319876	missense	probably benign
R0197:Med13	UTSW	11	86307038	missense	probably benign	0.13
R0206:Med13	UTSW	11	86300856	splice site	probably benign
R0208:Med13	UTSW	11	86300856	splice site	probably benign
R0310:Med13	UTSW	11	86346003	missense	probably benign	0.11
R0360:Med13	UTSW	11	86329161	splice site	probably benign
R0413:Med13	UTSW	11	86299207	splice site	probably benign
R0482:Med13	UTSW	11	86285151	missense	probably benign	0.41
R0497:Med13	UTSW	11	86276983	splice site	probably benign
R0589:Med13	UTSW	11	86283249	missense	probably damaging	1.00
R0601:Med13	UTSW	11	86345962	missense	possibly damaging	0.47
R0646:Med13	UTSW	11	86331089	missense	possibly damaging	0.95
R0701:Med13	UTSW	11	86307038	missense	probably benign	0.13
R0709:Med13	UTSW	11	86319596	missense	possibly damaging	0.95
R0711:Med13	UTSW	11	86301353	splice site	probably benign
R0734:Med13	UTSW	11	86301237	missense	probably benign
R0883:Med13	UTSW	11	86307038	missense	probably benign	0.13
R1793:Med13	UTSW	11	86329351	missense	probably benign	0.45
R1926:Med13	UTSW	11	86289073	missense	possibly damaging	0.47
R1959:Med13	UTSW	11	86298979	missense	probably damaging	1.00
R2286:Med13	UTSW	11	86319689	missense	probably benign	0.05
R2359:Med13	UTSW	11	86291035	splice site	probably benign
R2444:Med13	UTSW	11	86331960	missense	probably damaging	1.00
R2679:Med13	UTSW	11	86298577	missense	probably benign	0.00
R2879:Med13	UTSW	11	86299162	missense	possibly damaging	0.61
R3439:Med13	UTSW	11	86285297	missense	probably damaging	1.00
R3735:Med13	UTSW	11	86279658	missense	probably benign	0.00
R4333:Med13	UTSW	11	86288183	missense	probably benign
R4558:Med13	UTSW	11	86299054	missense	probably damaging	1.00
R4598:Med13	UTSW	11	86278566	missense	probably damaging	0.97
R4773:Med13	UTSW	11	86276920	missense	probably damaging	0.99
R4801:Med13	UTSW	11	86278773	missense	probably damaging	1.00
R4802:Med13	UTSW	11	86278773	missense	probably damaging	1.00
R4806:Med13	UTSW	11	86298577	missense	probably benign	0.00
R4940:Med13	UTSW	11	86288118	missense	probably damaging	1.00
R5056:Med13	UTSW	11	86328565	missense	probably benign	0.00
R5133:Med13	UTSW	11	86319849	missense	probably benign	0.32
R5206:Med13	UTSW	11	86319879	missense	probably damaging	1.00
R5352:Med13	UTSW	11	86301468	missense	possibly damaging	0.82
R5534:Med13	UTSW	11	86319365	missense	probably benign	0.09
R5556:Med13	UTSW	11	86327838	missense	probably benign	0.25
R5633:Med13	UTSW	11	86278931	splice site	probably benign
R5769:Med13	UTSW	11	86346003	missense	probably benign	0.11
R6236:Med13	UTSW	11	86328531	missense	probably damaging	0.99
R6479:Med13	UTSW	11	86357527	start gained	probably benign
R6487:Med13	UTSW	11	86331150	missense	probably damaging	1.00
R6524:Med13	UTSW	11	86301467	missense	probably damaging	0.98
R6528:Med13	UTSW	11	86298954	missense	probably damaging	1.00
R6805:Med13	UTSW	11	86278796	missense	possibly damaging	0.48
R6913:Med13	UTSW	11	86319876	missense	probably benign
R7221:Med13	UTSW	11	86288095	missense	probably benign	0.00
R7254:Med13	UTSW	11	86319835	missense	probably benign
R7267:Med13	UTSW	11	86308826	missense	probably benign	0.01
R7309:Med13	UTSW	11	86291062	missense	probably benign	0.00
R7404:Med13	UTSW	11	86286446	missense	possibly damaging	0.53
R7586:Med13	UTSW	11	86271002	missense	probably damaging	0.99
R7704:Med13	UTSW	11	86345918	nonsense	probably null
R7922:Med13	UTSW	11	86271005	missense	probably damaging	0.98
R7943:Med13	UTSW	11	86278526	missense	probably damaging	0.97
R8062:Med13	UTSW	11	86319438	missense	probably benign
R8075:Med13	UTSW	11	86272470	missense	probably damaging	0.98
R8207:Med13	UTSW	11	86303549	missense	probably damaging	1.00
R8671:Med13	UTSW	11	86271097	missense	probably damaging	1.00
R9056:Med13	UTSW	11	86298834	nonsense	probably null
R9084:Med13	UTSW	11	86300795	missense	probably damaging	1.00
R9148:Med13	UTSW	11	86301471	missense	probably benign	0.27
R9329:Med13	UTSW	11	86298457	missense	probably benign	0.10
R9380:Med13	UTSW	11	86286772	missense	probably benign	0.42
R9515:Med13	UTSW	11	86308901	missense	probably benign	0.00
R9516:Med13	UTSW	11	86288975	missense	probably benign	0.01
R9690:Med13	UTSW	11	86278844	missense	probably damaging	1.00
R9751:Med13	UTSW	11	86299158	missense	probably damaging	1.00
R9752:Med13	UTSW	11	86283321	missense	possibly damaging	0.87
R9764:Med13	UTSW	11	86286519	missense	possibly damaging	0.89
Z1176:Med13	UTSW	11	86328544	missense	possibly damaging	0.91
Z1176:Med13	UTSW	11	86345862	missense	probably benign	0.45
Z1176:Med13	UTSW	11	86355423	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACAGTCTGTGTTACGTCC -3'
(R):5'- AGGACTCCAAGGACTCCAAG -3'

Sequencing Primer
(F):5'- CACAGTCTGTGTTACGTCCTATGATG -3'
(R):5'- ACTCCAAGGACCCCTCGTG -3'

Posted On

2016-04-27