Incidental Mutation 'R0197:Med13'
| ID |
177854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med13
|
| Ensembl Gene |
ENSMUSG00000034297 |
| Gene Name |
mediator complex subunit 13 |
| Synonyms |
1110067M05Rik, Thrap1, Trap240 |
| MMRRC Submission |
038456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R0197 (G1)
|
| Quality Score |
49 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86157859-86248422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86197864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 736
(T736S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043624]
|
| AlphaFold |
Q5SWW4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043624
AA Change: T736S
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000044268
Gene: ENSMUSG00000034297
AA Change: T736S
| 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 |
0.0581 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.5%
- 20x: 75.9%
|
| Validation Efficiency |
97% (121/125) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,775,632 (GRCm39) |
L1607P |
probably damaging |
Het |
| 1700016H13Rik |
T |
C |
5: 103,796,687 (GRCm39) |
*118W |
probably null |
Het |
| Abcc2 |
A |
T |
19: 43,815,053 (GRCm39) |
R1147* |
probably null |
Het |
| Acsbg3 |
A |
T |
17: 57,190,835 (GRCm39) |
N468Y |
probably benign |
Het |
| Agap2 |
A |
G |
10: 126,927,571 (GRCm39) |
T1131A |
possibly damaging |
Het |
| Aldh9a1 |
A |
G |
1: 167,189,416 (GRCm39) |
D388G |
probably damaging |
Het |
| Ap3d1 |
G |
T |
10: 80,565,876 (GRCm39) |
A97E |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,012,636 (GRCm39) |
V320E |
probably damaging |
Het |
| Baiap2l1 |
C |
A |
5: 144,202,820 (GRCm39) |
V498L |
probably damaging |
Het |
| Bltp2 |
A |
C |
11: 78,160,530 (GRCm39) |
|
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,762,633 (GRCm39) |
N437S |
probably benign |
Het |
| Cert1 |
T |
A |
13: 96,685,795 (GRCm39) |
Y63N |
probably benign |
Het |
| Cfap119 |
T |
C |
7: 127,184,034 (GRCm39) |
E261G |
probably damaging |
Het |
| Cfap20dc |
C |
T |
14: 8,518,695 (GRCm38) |
G254R |
probably damaging |
Het |
| Chd1 |
C |
A |
17: 15,945,693 (GRCm39) |
N72K |
probably benign |
Het |
| Cstf2t |
A |
T |
19: 31,062,026 (GRCm39) |
M521L |
probably benign |
Het |
| Dlx5 |
T |
C |
6: 6,881,619 (GRCm39) |
K90E |
possibly damaging |
Het |
| Dmp1 |
A |
G |
5: 104,355,496 (GRCm39) |
E32G |
possibly damaging |
Het |
| Espnl |
T |
G |
1: 91,272,211 (GRCm39) |
Y524D |
probably damaging |
Het |
| Fam20c |
T |
C |
5: 138,741,479 (GRCm39) |
L30P |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,479,590 (GRCm39) |
A2879S |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,931,732 (GRCm39) |
V337D |
probably damaging |
Het |
| Gart |
C |
A |
16: 91,420,291 (GRCm39) |
D851Y |
possibly damaging |
Het |
| Gcc1 |
T |
C |
6: 28,420,615 (GRCm39) |
H234R |
probably damaging |
Het |
| Gemin6 |
T |
A |
17: 80,535,524 (GRCm39) |
H161Q |
probably damaging |
Het |
| Glt6d1 |
A |
G |
2: 25,684,082 (GRCm39) |
I308T |
probably benign |
Het |
| Gm10320 |
T |
C |
13: 98,628,491 (GRCm39) |
T7A |
probably benign |
Het |
| Gm10912 |
T |
C |
2: 103,896,875 (GRCm39) |
S5P |
probably benign |
Het |
| Gmpr2 |
T |
A |
14: 55,910,192 (GRCm39) |
D7E |
possibly damaging |
Het |
| Hc |
A |
G |
2: 34,874,762 (GRCm39) |
Y1620H |
probably damaging |
Het |
| Hoxa3 |
T |
C |
6: 52,147,123 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,309,907 (GRCm39) |
T1105A |
probably benign |
Het |
| Kdr |
G |
T |
5: 76,129,082 (GRCm39) |
T188N |
possibly damaging |
Het |
| Lepr |
A |
T |
4: 101,609,349 (GRCm39) |
D312V |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,880,329 (GRCm39) |
V501A |
probably damaging |
Het |
| Mcur1 |
T |
C |
13: 43,699,216 (GRCm39) |
Y267C |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,809,067 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
| Ndrg2 |
T |
A |
14: 52,144,460 (GRCm39) |
|
probably benign |
Het |
| Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,543 (GRCm39) |
S365T |
possibly damaging |
Het |
| Or13c25 |
G |
A |
4: 52,910,849 (GRCm39) |
T315M |
probably benign |
Het |
| Or4c10 |
A |
G |
2: 89,760,545 (GRCm39) |
T131A |
probably benign |
Het |
| Or4k48 |
C |
T |
2: 111,476,136 (GRCm39) |
V69I |
probably benign |
Het |
| Or51e1 |
T |
A |
7: 102,359,202 (GRCm39) |
H245Q |
probably damaging |
Het |
| Pds5b |
C |
A |
5: 150,677,896 (GRCm39) |
Q505K |
probably benign |
Het |
| Pramel22 |
C |
T |
4: 143,383,010 (GRCm39) |
E70K |
possibly damaging |
Het |
| Rfx2 |
T |
C |
17: 57,110,722 (GRCm39) |
Y88C |
probably damaging |
Het |
| Rpl6 |
T |
C |
5: 121,346,541 (GRCm39) |
V214A |
probably benign |
Het |
| Samd3 |
T |
A |
10: 26,147,752 (GRCm39) |
C476S |
possibly damaging |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Shank1 |
C |
T |
7: 44,001,718 (GRCm39) |
R1146W |
unknown |
Het |
| Smcr8 |
T |
C |
11: 60,668,941 (GRCm39) |
Y30H |
probably damaging |
Het |
| Smpd4 |
T |
A |
16: 17,459,461 (GRCm39) |
|
probably null |
Het |
| Strip1 |
C |
A |
3: 107,521,929 (GRCm39) |
D750Y |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,070,851 (GRCm39) |
K2312E |
possibly damaging |
Het |
| Taf1c |
A |
T |
8: 120,326,722 (GRCm39) |
I438N |
probably damaging |
Het |
| Tnfaip1 |
A |
T |
11: 78,420,840 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
T |
A |
11: 82,831,031 (GRCm39) |
L797Q |
possibly damaging |
Het |
| Usp24 |
T |
A |
4: 106,264,330 (GRCm39) |
W1754R |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,613,378 (GRCm39) |
P1301L |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
| Vps41 |
T |
G |
13: 19,038,833 (GRCm39) |
|
probably null |
Het |
| Vps72 |
G |
T |
3: 95,029,894 (GRCm39) |
L304F |
probably damaging |
Het |
| Wiz |
A |
T |
17: 32,575,415 (GRCm39) |
I907N |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,978,119 (GRCm39) |
T765A |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,976,500 (GRCm39) |
H923L |
probably damaging |
Het |
| Zp2 |
A |
T |
7: 119,742,799 (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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGAATGAGATCAGGTCGGACTACAA -3'
(R):5'- CAAAGCAACACAGGAATTGGTGGTAATG -3'
Sequencing Primer
(F):5'- tctgccttcctctgtctcc -3'
(R):5'- TAGCACTGCCCAATCTATAACAC -3'
|
| Posted On |
2014-04-29 |
Incidental Mutation