Incidental Mutation 'R0597:Med1'
| ID |
55134 |
| 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 |
038786-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98042980-98084119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98060264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 222
(M222V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018304]
[ENSMUST00000092735]
[ENSMUST00000107545]
|
| AlphaFold |
Q925J9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018304
AA Change: M207V
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: M207V
| 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
AA Change: M222V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160
AA Change: M222V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med1
|
33 |
429 |
1.2e-113 |
PFAM |
|
transmembrane domain
|
585 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107545
AA Change: M222V
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: M222V
| 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: ENSMUST00000129557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135479
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.4%
- 20x: 94.1%
|
| Validation Efficiency |
97% (71/73) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,352,631 (GRCm39) |
|
probably null |
Het |
| Anxa11 |
T |
C |
14: 25,874,652 (GRCm39) |
I221T |
probably damaging |
Het |
| Arhgap33 |
C |
G |
7: 30,225,871 (GRCm39) |
R565P |
probably damaging |
Het |
| Bmpr2 |
T |
C |
1: 59,880,584 (GRCm39) |
|
probably benign |
Het |
| Btn2a2 |
T |
A |
13: 23,670,580 (GRCm39) |
H51L |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,028,851 (GRCm39) |
S1099P |
probably benign |
Het |
| Cnot4 |
A |
G |
6: 35,028,438 (GRCm39) |
S393P |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,112,191 (GRCm39) |
|
probably benign |
Het |
| Cobl |
T |
C |
11: 12,204,699 (GRCm39) |
T586A |
probably benign |
Het |
| Crocc |
T |
C |
4: 140,747,224 (GRCm39) |
K1528R |
probably benign |
Het |
| Crocc |
A |
G |
4: 140,744,382 (GRCm39) |
L1838P |
probably benign |
Het |
| Dact2 |
A |
G |
17: 14,417,303 (GRCm39) |
V299A |
probably benign |
Het |
| Dapk1 |
C |
A |
13: 60,909,198 (GRCm39) |
N1270K |
probably benign |
Het |
| Ddx41 |
T |
C |
13: 55,680,819 (GRCm39) |
Y375C |
probably damaging |
Het |
| Dock5 |
T |
A |
14: 68,022,383 (GRCm39) |
|
probably null |
Het |
| Dyrk4 |
T |
G |
6: 126,863,612 (GRCm39) |
|
probably null |
Het |
| Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
| Fam210b |
A |
G |
2: 172,187,773 (GRCm39) |
|
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,819,712 (GRCm39) |
I229T |
probably benign |
Het |
| Fbxo39 |
A |
G |
11: 72,207,747 (GRCm39) |
D33G |
probably damaging |
Het |
| Fbxw11 |
A |
G |
11: 32,670,496 (GRCm39) |
E120G |
probably damaging |
Het |
| Fbxw2 |
A |
T |
2: 34,701,032 (GRCm39) |
L261Q |
probably damaging |
Het |
| Gm5800 |
A |
C |
14: 51,953,461 (GRCm39) |
N51K |
probably benign |
Het |
| Gm6899 |
A |
G |
11: 26,543,768 (GRCm39) |
|
probably benign |
Het |
| Gpx8 |
T |
C |
13: 113,182,035 (GRCm39) |
T133A |
possibly damaging |
Het |
| Grin3a |
C |
T |
4: 49,665,351 (GRCm39) |
V1095M |
probably damaging |
Het |
| Grip2 |
T |
C |
6: 91,773,178 (GRCm39) |
|
probably benign |
Het |
| Hacd4 |
A |
G |
4: 88,355,757 (GRCm39) |
F43L |
probably damaging |
Het |
| Hif1a |
T |
G |
12: 73,989,049 (GRCm39) |
S645R |
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,263,982 (GRCm39) |
S839P |
possibly damaging |
Het |
| Idi2l |
C |
A |
13: 8,990,802 (GRCm39) |
|
probably benign |
Het |
| Il16 |
A |
T |
7: 83,327,183 (GRCm39) |
|
probably benign |
Het |
| Il3ra |
T |
A |
14: 14,351,166 (GRCm38) |
|
probably null |
Het |
| Il5ra |
A |
G |
6: 106,721,296 (GRCm39) |
M1T |
probably null |
Het |
| Klra2 |
G |
A |
6: 131,197,148 (GRCm39) |
R251C |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,009,367 (GRCm39) |
V813M |
probably benign |
Het |
| Lbr |
A |
G |
1: 181,659,778 (GRCm39) |
V139A |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,650,777 (GRCm39) |
D1219G |
possibly damaging |
Het |
| Map3k6 |
C |
T |
4: 132,972,863 (GRCm39) |
P341S |
possibly damaging |
Het |
| Mcts2 |
A |
G |
2: 152,529,609 (GRCm39) |
E140G |
probably benign |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Muc19 |
A |
T |
15: 91,784,696 (GRCm39) |
|
noncoding transcript |
Het |
| Nr1h2 |
A |
G |
7: 44,201,684 (GRCm39) |
|
probably benign |
Het |
| Or13j1 |
A |
T |
4: 43,706,592 (GRCm39) |
|
probably null |
Het |
| Or2w6 |
C |
A |
13: 21,843,316 (GRCm39) |
R59L |
probably damaging |
Het |
| Or56a42-ps1 |
A |
G |
7: 104,777,425 (GRCm39) |
V73A |
possibly damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,123 (GRCm39) |
F250I |
probably damaging |
Het |
| P4hb |
G |
A |
11: 120,459,070 (GRCm39) |
T141I |
possibly damaging |
Het |
| Polr3a |
A |
G |
14: 24,534,202 (GRCm39) |
V101A |
probably benign |
Het |
| Pou4f2 |
A |
G |
8: 79,161,869 (GRCm39) |
S245P |
probably benign |
Het |
| Pramel26 |
G |
T |
4: 143,539,222 (GRCm39) |
N90K |
probably damaging |
Het |
| Rnpep |
A |
G |
1: 135,200,157 (GRCm39) |
V266A |
probably damaging |
Het |
| Scly |
G |
A |
1: 91,237,555 (GRCm39) |
G206R |
probably damaging |
Het |
| Sec14l3 |
A |
T |
11: 4,024,814 (GRCm39) |
K254N |
probably damaging |
Het |
| Sgpp1 |
A |
T |
12: 75,781,874 (GRCm39) |
I155N |
probably damaging |
Het |
| Slc22a14 |
A |
G |
9: 119,001,190 (GRCm39) |
L468P |
probably damaging |
Het |
| Slc22a27 |
A |
G |
19: 7,843,249 (GRCm39) |
F377L |
probably benign |
Het |
| Slc44a3 |
T |
C |
3: 121,253,719 (GRCm39) |
I625V |
probably benign |
Het |
| Slc47a2 |
A |
T |
11: 61,200,802 (GRCm39) |
I373N |
probably damaging |
Het |
| Slfn10-ps |
A |
T |
11: 82,926,479 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcd1 |
T |
A |
15: 99,608,975 (GRCm39) |
I383N |
probably damaging |
Het |
| Sort1 |
A |
G |
3: 108,246,226 (GRCm39) |
D401G |
probably damaging |
Het |
| Sprr2a3 |
G |
T |
3: 92,195,897 (GRCm39) |
M1I |
probably null |
Het |
| Sycp2 |
A |
C |
2: 177,998,373 (GRCm39) |
V1049G |
possibly damaging |
Het |
| Tecrl |
T |
A |
5: 83,502,775 (GRCm39) |
K10* |
probably null |
Het |
| Tnpo3 |
A |
T |
6: 29,578,564 (GRCm39) |
C303* |
probably null |
Het |
| Vmn2r23 |
A |
G |
6: 123,706,680 (GRCm39) |
I503M |
probably benign |
Het |
| Zbtb8os |
T |
A |
4: 129,240,670 (GRCm39) |
I164N |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,399 (GRCm39) |
N1882D |
probably benign |
Het |
| Zfp91 |
T |
C |
19: 12,747,459 (GRCm39) |
I555V |
possibly 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 |
|
|
R0208: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 |
|
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'- GTACAAGCTGTAACTCCACCACCTG -3'
(R):5'- AGGTAATCACTCTTCTCTGAGCTGTCC -3'
Sequencing Primer
(F):5'- agttcttggaaggctgaagtg -3'
(R):5'- CTGAGCTGTCCCCAGCC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation