Incidental Mutation 'IGL02902:Med1'
| ID |
363662 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Med1
|
| Ensembl Gene |
ENSMUSG00000018160 |
| Gene Name |
mediator complex subunit 1 |
| Synonyms |
DRIP205, TRAP220, PBP, Pparbp, CRSP210, l11Jus15, TRAP 220 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02902
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98042980-98084119 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 98047335 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: K1139E
|
| SMART Domains |
Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: K1139E
| 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: K1154E
|
| SMART Domains |
Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: K1154E
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 |
|---|
| 2810459M11Rik |
G |
T |
1: 85,974,087 (GRCm39) |
V135F |
possibly damaging |
Het |
| Aatk |
T |
C |
11: 119,902,603 (GRCm39) |
T541A |
probably benign |
Het |
| Abcc1 |
T |
C |
16: 14,240,991 (GRCm39) |
L516P |
probably damaging |
Het |
| Actl6a |
T |
A |
3: 32,776,791 (GRCm39) |
V350E |
possibly damaging |
Het |
| Afm |
A |
G |
5: 90,674,222 (GRCm39) |
K245E |
possibly damaging |
Het |
| Agr3 |
T |
C |
12: 35,996,915 (GRCm39) |
V63A |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,083,383 (GRCm39) |
M1162K |
probably damaging |
Het |
| Casq2 |
T |
A |
3: 101,994,113 (GRCm39) |
C53* |
probably null |
Het |
| Ccdc181 |
T |
C |
1: 164,107,470 (GRCm39) |
V51A |
probably benign |
Het |
| Cd101 |
A |
G |
3: 100,926,310 (GRCm39) |
|
probably benign |
Het |
| Csdc2 |
T |
C |
15: 81,832,801 (GRCm39) |
V69A |
probably benign |
Het |
| Cyp2c23 |
A |
T |
19: 44,009,997 (GRCm39) |
|
probably benign |
Het |
| Dnph1 |
A |
G |
17: 46,809,427 (GRCm39) |
|
probably benign |
Het |
| Egf |
T |
C |
3: 129,474,796 (GRCm39) |
T1124A |
probably benign |
Het |
| Gpr45 |
A |
G |
1: 43,072,371 (GRCm39) |
E338G |
possibly damaging |
Het |
| Grb14 |
A |
C |
2: 64,768,762 (GRCm39) |
L98R |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,026,224 (GRCm39) |
S77G |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,925,390 (GRCm39) |
S996P |
probably benign |
Het |
| Huwe1 |
A |
G |
X: 150,669,762 (GRCm39) |
E1405G |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 48,986,617 (GRCm39) |
I128T |
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,309,736 (GRCm39) |
Y1089N |
probably damaging |
Het |
| Ift56 |
A |
C |
6: 38,402,097 (GRCm39) |
S530R |
probably benign |
Het |
| Il1r1 |
A |
T |
1: 40,341,569 (GRCm39) |
H324L |
probably benign |
Het |
| Irx1 |
C |
T |
13: 72,107,974 (GRCm39) |
R236H |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,323,530 (GRCm39) |
V1185A |
probably benign |
Het |
| Kif19a |
T |
C |
11: 114,676,396 (GRCm39) |
V450A |
possibly damaging |
Het |
| Krtap21-1 |
G |
T |
16: 89,200,446 (GRCm39) |
Y65* |
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,176,693 (GRCm39) |
N1704K |
possibly damaging |
Het |
| Meis2 |
T |
A |
2: 115,893,804 (GRCm39) |
H36L |
probably damaging |
Het |
| Mier2 |
T |
C |
10: 79,385,456 (GRCm39) |
N124S |
probably damaging |
Het |
| Mmp20 |
A |
G |
9: 7,654,171 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
G |
16: 32,569,212 (GRCm39) |
T91A |
possibly damaging |
Het |
| Myo3b |
T |
A |
2: 70,119,745 (GRCm39) |
V935E |
probably benign |
Het |
| Ndufa7 |
T |
C |
17: 34,048,632 (GRCm39) |
|
probably benign |
Het |
| Nipal1 |
A |
G |
5: 72,825,405 (GRCm39) |
E366G |
possibly damaging |
Het |
| Nobox |
A |
T |
6: 43,282,617 (GRCm39) |
N263K |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,018,890 (GRCm39) |
D684G |
probably damaging |
Het |
| Odr4 |
C |
A |
1: 150,260,179 (GRCm39) |
|
probably null |
Het |
| Or2t1 |
A |
G |
14: 14,328,789 (GRCm38) |
H226R |
probably benign |
Het |
| Or4c12b |
T |
A |
2: 89,647,508 (GRCm39) |
Y273* |
probably null |
Het |
| Or5p69 |
C |
A |
7: 107,967,336 (GRCm39) |
T213K |
probably damaging |
Het |
| Or5w13 |
T |
C |
2: 87,523,344 (GRCm39) |
N294S |
probably damaging |
Het |
| Or6aa1 |
T |
C |
7: 86,043,743 (GRCm39) |
|
probably benign |
Het |
| Plau |
A |
C |
14: 20,889,965 (GRCm39) |
D270A |
possibly damaging |
Het |
| Pof1b |
T |
C |
X: 111,558,809 (GRCm39) |
|
probably null |
Het |
| Pramel23 |
A |
G |
4: 143,424,913 (GRCm39) |
C177R |
probably damaging |
Het |
| Prtn3 |
A |
T |
10: 79,717,767 (GRCm39) |
|
probably null |
Het |
| Ptges3 |
T |
A |
10: 127,904,616 (GRCm39) |
D26E |
probably benign |
Het |
| Pxmp2 |
T |
C |
5: 110,429,160 (GRCm39) |
E99G |
probably benign |
Het |
| Rasgef1a |
A |
G |
6: 118,060,068 (GRCm39) |
R106G |
probably benign |
Het |
| Rnf208 |
T |
C |
2: 25,133,774 (GRCm39) |
V156A |
probably benign |
Het |
| Rps6ka1 |
A |
T |
4: 133,599,292 (GRCm39) |
I45N |
possibly damaging |
Het |
| Rps6ka4 |
C |
T |
19: 6,809,623 (GRCm39) |
|
probably null |
Het |
| Rsbn1 |
G |
T |
3: 103,860,972 (GRCm39) |
C466F |
possibly damaging |
Het |
| Shkbp1 |
A |
T |
7: 27,042,141 (GRCm39) |
C605S |
probably damaging |
Het |
| Slc2a10 |
G |
A |
2: 165,360,142 (GRCm39) |
D531N |
probably benign |
Het |
| Sox13 |
A |
G |
1: 133,317,204 (GRCm39) |
L143P |
probably damaging |
Het |
| Stx2 |
C |
T |
5: 129,069,285 (GRCm39) |
R142Q |
probably damaging |
Het |
| Tanc1 |
T |
A |
2: 59,623,431 (GRCm39) |
|
probably benign |
Het |
| Tubgcp5 |
C |
T |
7: 55,456,355 (GRCm39) |
Q316* |
probably null |
Het |
| Ubc |
A |
G |
5: 125,463,293 (GRCm39) |
V678A |
probably benign |
Het |
| Unc5d |
G |
A |
8: 29,365,634 (GRCm39) |
T117I |
probably damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,314,337 (GRCm39) |
I126V |
probably benign |
Het |
| Zfp410 |
T |
A |
12: 84,378,594 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation