Incidental Mutation 'R0208:Med1'
| ID |
33486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med1
|
| Ensembl Gene |
ENSMUSG00000018160 |
| Gene Name |
mediator complex subunit 1 |
| Synonyms |
DRIP205, TRAP220, PBP, Pparbp, CRSP210, l11Jus15, TRAP 220 |
| MMRRC Submission |
038461-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0208 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98042980-98084119 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 98046515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018304]
[ENSMUST00000092735]
[ENSMUST00000107545]
|
| AlphaFold |
Q925J9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000018304
AA Change: I1412T
|
| SMART Domains |
Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: I1412T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med1
|
18 |
414 |
3.7e-112 |
PFAM |
|
low complexity region
|
536 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
678 |
N/A |
INTRINSIC |
|
low complexity region
|
960 |
981 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
999 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1036 |
N/A |
INTRINSIC |
|
low complexity region
|
1042 |
1054 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1138 |
N/A |
INTRINSIC |
|
low complexity region
|
1170 |
1183 |
N/A |
INTRINSIC |
|
low complexity region
|
1205 |
1243 |
N/A |
INTRINSIC |
|
low complexity region
|
1250 |
1281 |
N/A |
INTRINSIC |
|
low complexity region
|
1344 |
1364 |
N/A |
INTRINSIC |
|
low complexity region
|
1482 |
1503 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092735
|
| SMART Domains |
Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med1
|
33 |
429 |
1.2e-113 |
PFAM |
|
transmembrane domain
|
585 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000107545
AA Change: I1427T
|
| SMART Domains |
Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: I1427T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med1
|
59 |
426 |
2.9e-74 |
PFAM |
|
low complexity region
|
551 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
610 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
996 |
N/A |
INTRINSIC |
|
low complexity region
|
1004 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1030 |
1051 |
N/A |
INTRINSIC |
|
low complexity region
|
1057 |
1069 |
N/A |
INTRINSIC |
|
low complexity region
|
1078 |
1153 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1198 |
N/A |
INTRINSIC |
|
low complexity region
|
1220 |
1258 |
N/A |
INTRINSIC |
|
low complexity region
|
1265 |
1296 |
N/A |
INTRINSIC |
|
low complexity region
|
1359 |
1379 |
N/A |
INTRINSIC |
|
low complexity region
|
1497 |
1518 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126483
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147933
|
| Meta Mutation Damage Score |
0.0730 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.7%
|
| Validation Efficiency |
96% (67/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations have defects of placental vasculature, heart, and lens, arrested erythrocytic differentiation, impaired neuronal development, and die by embryonic day 11.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
C |
T |
3: 59,840,110 (GRCm39) |
R61C |
probably damaging |
Het |
| Ackr4 |
A |
G |
9: 103,976,860 (GRCm39) |
V29A |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,458,656 (GRCm39) |
F313L |
probably benign |
Het |
| Arfgef2 |
C |
T |
2: 166,709,342 (GRCm39) |
R1140W |
probably damaging |
Het |
| Arhgef15 |
A |
T |
11: 68,837,199 (GRCm39) |
N797K |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,275 (GRCm39) |
E342G |
probably damaging |
Het |
| Asb2 |
T |
A |
12: 103,291,530 (GRCm39) |
N466Y |
possibly damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,932,064 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
A |
G |
2: 24,497,492 (GRCm39) |
S2140P |
probably damaging |
Het |
| Camsap2 |
G |
C |
1: 136,208,738 (GRCm39) |
P918R |
probably damaging |
Het |
| Cdk7 |
G |
T |
13: 100,843,022 (GRCm39) |
D202E |
probably benign |
Het |
| Cenpj |
G |
T |
14: 56,801,427 (GRCm39) |
A182E |
probably benign |
Het |
| Clstn3 |
A |
G |
6: 124,409,128 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
C |
T |
4: 120,909,485 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,116,385 (GRCm39) |
M1745T |
probably damaging |
Het |
| Dnah11 |
A |
C |
12: 118,007,509 (GRCm39) |
N2156K |
probably damaging |
Het |
| Dock3 |
G |
T |
9: 106,874,195 (GRCm39) |
Y425* |
probably null |
Het |
| Eng |
A |
T |
2: 32,569,005 (GRCm39) |
T511S |
probably benign |
Het |
| Gcfc2 |
A |
T |
6: 81,920,444 (GRCm39) |
S410C |
probably null |
Het |
| Grik3 |
T |
A |
4: 125,579,958 (GRCm39) |
Y568N |
probably damaging |
Het |
| Gsr |
T |
A |
8: 34,179,383 (GRCm39) |
D330E |
possibly damaging |
Het |
| H2-M10.4 |
A |
G |
17: 36,771,375 (GRCm39) |
W268R |
probably damaging |
Het |
| Hepacam2 |
A |
T |
6: 3,467,505 (GRCm39) |
|
probably benign |
Het |
| Hrct1 |
C |
A |
4: 43,727,384 (GRCm39) |
T8K |
possibly damaging |
Het |
| Idua |
T |
A |
5: 108,829,618 (GRCm39) |
F447I |
probably damaging |
Het |
| Il2ra |
T |
C |
2: 11,686,828 (GRCm39) |
|
probably benign |
Het |
| Ipcef1 |
A |
G |
10: 6,870,062 (GRCm39) |
S113P |
probably damaging |
Het |
| Klk1b9 |
T |
A |
7: 43,628,854 (GRCm39) |
N119K |
possibly damaging |
Het |
| Krtap9-3 |
C |
A |
11: 99,488,663 (GRCm39) |
C73F |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,492,562 (GRCm39) |
F1334L |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,191,682 (GRCm39) |
|
probably benign |
Het |
| Mtor |
C |
A |
4: 148,549,432 (GRCm39) |
H605Q |
probably benign |
Het |
| Muc19 |
A |
G |
15: 91,777,218 (GRCm39) |
|
noncoding transcript |
Het |
| Mybphl |
T |
C |
3: 108,282,731 (GRCm39) |
V207A |
probably damaging |
Het |
| Nptxr |
A |
T |
15: 79,673,916 (GRCm39) |
C366S |
probably null |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5p73 |
A |
G |
7: 108,064,750 (GRCm39) |
D73G |
probably damaging |
Het |
| Or8h9 |
G |
T |
2: 86,789,748 (GRCm39) |
T18K |
probably damaging |
Het |
| Pcdhb18 |
T |
C |
18: 37,623,240 (GRCm39) |
I190T |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,097,216 (GRCm39) |
T428A |
probably benign |
Het |
| Pgbd1 |
A |
C |
13: 21,618,651 (GRCm39) |
L2R |
probably damaging |
Het |
| Pkp4 |
A |
G |
2: 59,096,780 (GRCm39) |
I61V |
probably damaging |
Het |
| Pold4 |
T |
G |
19: 4,282,593 (GRCm39) |
Y58* |
probably null |
Het |
| Polr1d |
A |
C |
5: 147,015,490 (GRCm39) |
|
probably null |
Het |
| Prex2 |
T |
A |
1: 11,355,368 (GRCm39) |
D1556E |
probably damaging |
Het |
| Psmd1 |
T |
C |
1: 86,061,463 (GRCm39) |
V891A |
possibly damaging |
Het |
| Rasip1 |
C |
A |
7: 45,281,999 (GRCm39) |
P501T |
probably damaging |
Het |
| Scgb2b27 |
C |
A |
7: 33,711,562 (GRCm39) |
E96* |
probably null |
Het |
| Sec16b |
G |
T |
1: 157,380,505 (GRCm39) |
G359* |
probably null |
Het |
| Secisbp2 |
A |
G |
13: 51,833,881 (GRCm39) |
T674A |
probably benign |
Het |
| Serpinb6c |
G |
A |
13: 34,081,379 (GRCm39) |
S90L |
probably benign |
Het |
| Sgsm2 |
A |
G |
11: 74,759,067 (GRCm39) |
I170T |
probably damaging |
Het |
| Slc28a1 |
A |
T |
7: 80,767,454 (GRCm39) |
|
probably benign |
Het |
| Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,886,177 (GRCm39) |
|
probably null |
Het |
| Spint1 |
T |
C |
2: 119,078,826 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,020,526 (GRCm39) |
H545R |
probably damaging |
Het |
| Tada3 |
A |
T |
6: 113,343,968 (GRCm39) |
L227Q |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,549,151 (GRCm39) |
V644M |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,058,286 (GRCm39) |
V1016I |
probably benign |
Het |
| Usf3 |
C |
A |
16: 44,037,269 (GRCm39) |
A583E |
probably damaging |
Het |
| Ush2a |
A |
C |
1: 188,263,958 (GRCm39) |
I1612L |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,447,333 (GRCm39) |
T578A |
probably benign |
Het |
| Zmat4 |
T |
A |
8: 24,392,083 (GRCm39) |
M13K |
probably damaging |
Het |
|
| Other mutations in Med1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00556:Med1
|
APN |
11 |
98,046,510 (GRCm39) |
intron |
probably benign |
|
|
IGL00690:Med1
|
APN |
11 |
98,060,226 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01087:Med1
|
APN |
11 |
98,071,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01133:Med1
|
APN |
11 |
98,048,812 (GRCm39) |
nonsense |
probably null |
|
|
IGL02223:Med1
|
APN |
11 |
98,048,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02257:Med1
|
APN |
11 |
98,071,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02699:Med1
|
APN |
11 |
98,070,851 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02706:Med1
|
APN |
11 |
98,047,533 (GRCm39) |
intron |
probably benign |
|
|
IGL02902:Med1
|
APN |
11 |
98,047,335 (GRCm39) |
intron |
probably benign |
|
|
IGL02986:Med1
|
APN |
11 |
98,047,086 (GRCm39) |
intron |
probably benign |
|
|
IGL03011:Med1
|
APN |
11 |
98,051,859 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03282:Med1
|
APN |
11 |
98,047,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03303:Med1
|
APN |
11 |
98,049,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Med1
|
APN |
11 |
98,080,006 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03410:Med1
|
APN |
11 |
98,080,009 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
PIT4453001:Med1
|
UTSW |
11 |
98,049,243 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0040:Med1
|
UTSW |
11 |
98,057,081 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0206:Med1
|
UTSW |
11 |
98,046,515 (GRCm39) |
intron |
probably benign |
|
|
R0206:Med1
|
UTSW |
11 |
98,046,515 (GRCm39) |
intron |
probably benign |
|
|
R0310:Med1
|
UTSW |
11 |
98,058,400 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0505:Med1
|
UTSW |
11 |
98,047,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Med1
|
UTSW |
11 |
98,060,264 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0680:Med1
|
UTSW |
11 |
98,070,992 (GRCm39) |
splice site |
probably null |
|
|
R0686:Med1
|
UTSW |
11 |
98,049,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0698:Med1
|
UTSW |
11 |
98,046,515 (GRCm39) |
intron |
probably benign |
|
|
R1293:Med1
|
UTSW |
11 |
98,047,862 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1302:Med1
|
UTSW |
11 |
98,048,275 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1365:Med1
|
UTSW |
11 |
98,046,821 (GRCm39) |
intron |
probably benign |
|
|
R1537:Med1
|
UTSW |
11 |
98,051,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1609:Med1
|
UTSW |
11 |
98,051,996 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1631:Med1
|
UTSW |
11 |
98,046,452 (GRCm39) |
intron |
probably benign |
|
|
R1792:Med1
|
UTSW |
11 |
98,048,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Med1
|
UTSW |
11 |
98,047,437 (GRCm39) |
intron |
probably benign |
|
|
R1837:Med1
|
UTSW |
11 |
98,060,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2366:Med1
|
UTSW |
11 |
98,052,008 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3754:Med1
|
UTSW |
11 |
98,057,548 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3762:Med1
|
UTSW |
11 |
98,046,341 (GRCm39) |
intron |
probably benign |
|
|
R4012:Med1
|
UTSW |
11 |
98,062,532 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4112:Med1
|
UTSW |
11 |
98,070,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Med1
|
UTSW |
11 |
98,043,688 (GRCm39) |
unclassified |
probably benign |
|
|
R4579:Med1
|
UTSW |
11 |
98,049,248 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4740:Med1
|
UTSW |
11 |
98,071,090 (GRCm39) |
nonsense |
probably null |
|
|
R4819:Med1
|
UTSW |
11 |
98,046,258 (GRCm39) |
intron |
probably benign |
|
|
R4879:Med1
|
UTSW |
11 |
98,046,186 (GRCm39) |
unclassified |
probably benign |
|
|
R4993:Med1
|
UTSW |
11 |
98,054,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5040:Med1
|
UTSW |
11 |
98,046,230 (GRCm39) |
intron |
probably benign |
|
|
R5249:Med1
|
UTSW |
11 |
98,048,066 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5373:Med1
|
UTSW |
11 |
98,054,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5374:Med1
|
UTSW |
11 |
98,054,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5552:Med1
|
UTSW |
11 |
98,057,157 (GRCm39) |
nonsense |
probably null |
|
|
R5692:Med1
|
UTSW |
11 |
98,047,206 (GRCm39) |
intron |
probably benign |
|
|
R6010:Med1
|
UTSW |
11 |
98,049,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6149:Med1
|
UTSW |
11 |
98,074,679 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6417:Med1
|
UTSW |
11 |
98,048,054 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7301:Med1
|
UTSW |
11 |
98,043,634 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7507:Med1
|
UTSW |
11 |
98,048,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Med1
|
UTSW |
11 |
98,046,791 (GRCm39) |
missense |
unknown |
|
|
R7588:Med1
|
UTSW |
11 |
98,046,398 (GRCm39) |
missense |
unknown |
|
|
R7654:Med1
|
UTSW |
11 |
98,060,189 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7662:Med1
|
UTSW |
11 |
98,046,218 (GRCm39) |
missense |
unknown |
|
|
R7679:Med1
|
UTSW |
11 |
98,046,887 (GRCm39) |
missense |
unknown |
|
|
R7862:Med1
|
UTSW |
11 |
98,052,036 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8447:Med1
|
UTSW |
11 |
98,060,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Med1
|
UTSW |
11 |
98,046,599 (GRCm39) |
missense |
unknown |
|
|
R8843:Med1
|
UTSW |
11 |
98,080,102 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9072:Med1
|
UTSW |
11 |
98,080,009 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9284:Med1
|
UTSW |
11 |
98,046,366 (GRCm39) |
missense |
unknown |
|
|
R9428:Med1
|
UTSW |
11 |
98,080,049 (GRCm39) |
nonsense |
probably null |
|
|
R9465:Med1
|
UTSW |
11 |
98,049,144 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9531:Med1
|
UTSW |
11 |
98,048,321 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9537:Med1
|
UTSW |
11 |
98,062,586 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9548:Med1
|
UTSW |
11 |
98,070,884 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9680:Med1
|
UTSW |
11 |
98,071,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9696:Med1
|
UTSW |
11 |
98,061,772 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Med1
|
UTSW |
11 |
98,052,009 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACCATCCTCTGAGCTGGGACTG -3'
(R):5'- GGGCGCAAGCACAAATTCTTCTAAC -3'
Sequencing Primer
(F):5'- GACTGTTCTGGTAGGATCTCTC -3'
(R):5'- GACAAATCCAAGGTCTCTGCTTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation