Incidental Mutation 'IGL00556:Med1'
ID |
4509 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Med1
|
Ensembl Gene |
ENSMUSG00000018160 |
Gene Name |
mediator complex subunit 1 |
Synonyms |
Pparbp, l11Jus15, PBP, TRAP 220, CRSP210, DRIP205, TRAP220 |
Accession Numbers |
|
Is this an essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00556
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
98152154-98193293 bp(-) (GRCm38) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 98155684 bp (GRCm38)
|
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: S1414P
|
SMART Domains |
Protein: ENSMUSP00000018304 Gene: ENSMUSG00000018160 AA Change: S1414P
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: S1429P
|
SMART Domains |
Protein: ENSMUSP00000103169 Gene: ENSMUSG00000018160 AA Change: S1429P
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402H24Rik |
T |
C |
2: 130,784,457 |
D225G |
probably benign |
Het |
Abca12 |
T |
C |
1: 71,353,757 |
I108V |
probably benign |
Het |
Atad2 |
A |
G |
15: 58,100,080 |
I723T |
probably damaging |
Het |
Cct4 |
T |
A |
11: 22,997,656 |
V233E |
possibly damaging |
Het |
Ces1a |
A |
G |
8: 93,045,059 |
Y37H |
probably benign |
Het |
Cgnl1 |
C |
T |
9: 71,656,056 |
R863Q |
probably benign |
Het |
Fam13b |
T |
C |
18: 34,497,435 |
D90G |
probably damaging |
Het |
Fhdc1 |
A |
T |
3: 84,457,242 |
D232E |
possibly damaging |
Het |
Gm6370 |
A |
G |
5: 146,493,913 |
T303A |
probably benign |
Het |
Gsdmc2 |
A |
G |
15: 63,828,271 |
|
probably benign |
Het |
Kif13b |
T |
A |
14: 64,744,888 |
N516K |
probably damaging |
Het |
Med4 |
T |
C |
14: 73,517,267 |
M190T |
probably damaging |
Het |
Myo15b |
T |
C |
11: 115,891,916 |
V1534A |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,191,949 |
R1722G |
probably benign |
Het |
Obp2b |
A |
T |
2: 25,738,581 |
I116F |
probably damaging |
Het |
Rims2 |
A |
G |
15: 39,456,674 |
|
probably null |
Het |
Siglecg |
A |
T |
7: 43,411,795 |
I431F |
probably benign |
Het |
Thap12 |
T |
A |
7: 98,716,137 |
V504D |
possibly damaging |
Het |
Tlr7 |
A |
C |
X: 167,308,475 |
M5R |
possibly damaging |
Het |
Tubgcp6 |
A |
G |
15: 89,100,962 |
V1641A |
probably damaging |
Het |
Ugt2b1 |
T |
A |
5: 86,926,196 |
L101F |
probably benign |
Het |
Xdh |
A |
T |
17: 73,884,435 |
*1336R |
probably null |
Het |
|
Other mutations in Med1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00690:Med1
|
APN |
11 |
98169400 |
missense |
possibly damaging |
0.94 |
IGL01087:Med1
|
APN |
11 |
98180285 |
missense |
probably damaging |
1.00 |
IGL01133:Med1
|
APN |
11 |
98157986 |
nonsense |
probably null |
|
IGL02223:Med1
|
APN |
11 |
98157876 |
missense |
probably damaging |
1.00 |
IGL02257:Med1
|
APN |
11 |
98180270 |
missense |
probably damaging |
0.98 |
IGL02699:Med1
|
APN |
11 |
98180025 |
missense |
possibly damaging |
0.61 |
IGL02706:Med1
|
APN |
11 |
98156707 |
intron |
probably benign |
|
IGL02902:Med1
|
APN |
11 |
98156509 |
intron |
probably benign |
|
IGL02986:Med1
|
APN |
11 |
98156260 |
intron |
probably benign |
|
IGL03011:Med1
|
APN |
11 |
98161033 |
missense |
possibly damaging |
0.92 |
IGL03282:Med1
|
APN |
11 |
98156817 |
missense |
probably damaging |
1.00 |
IGL03303:Med1
|
APN |
11 |
98158352 |
missense |
probably damaging |
1.00 |
IGL03342:Med1
|
APN |
11 |
98189180 |
critical splice donor site |
probably null |
|
IGL03410:Med1
|
APN |
11 |
98189183 |
missense |
possibly damaging |
0.62 |
PIT4453001:Med1
|
UTSW |
11 |
98158417 |
missense |
probably benign |
0.40 |
R0040:Med1
|
UTSW |
11 |
98166255 |
critical splice donor site |
probably null |
|
R0206:Med1
|
UTSW |
11 |
98155689 |
intron |
probably benign |
|
R0206:Med1
|
UTSW |
11 |
98155689 |
intron |
probably benign |
|
R0208:Med1
|
UTSW |
11 |
98155689 |
intron |
probably benign |
|
R0310:Med1
|
UTSW |
11 |
98167574 |
missense |
probably benign |
0.38 |
R0505:Med1
|
UTSW |
11 |
98156904 |
missense |
probably damaging |
1.00 |
R0597:Med1
|
UTSW |
11 |
98169438 |
missense |
probably benign |
0.08 |
R0680:Med1
|
UTSW |
11 |
98180166 |
splice site |
probably null |
|
R0686:Med1
|
UTSW |
11 |
98158404 |
missense |
probably damaging |
1.00 |
R0698:Med1
|
UTSW |
11 |
98155689 |
intron |
probably benign |
|
R1293:Med1
|
UTSW |
11 |
98157036 |
missense |
possibly damaging |
0.93 |
R1302:Med1
|
UTSW |
11 |
98157449 |
missense |
possibly damaging |
0.50 |
R1365:Med1
|
UTSW |
11 |
98155995 |
intron |
probably benign |
|
R1537:Med1
|
UTSW |
11 |
98160946 |
missense |
probably damaging |
0.97 |
R1609:Med1
|
UTSW |
11 |
98161170 |
missense |
possibly damaging |
0.91 |
R1631:Med1
|
UTSW |
11 |
98155626 |
intron |
probably benign |
|
R1792:Med1
|
UTSW |
11 |
98157283 |
missense |
probably damaging |
1.00 |
R1831:Med1
|
UTSW |
11 |
98156611 |
intron |
probably benign |
|
R1837:Med1
|
UTSW |
11 |
98169412 |
missense |
probably damaging |
1.00 |
R2366:Med1
|
UTSW |
11 |
98161182 |
missense |
probably damaging |
0.98 |
R3754:Med1
|
UTSW |
11 |
98166722 |
missense |
possibly damaging |
0.77 |
R3762:Med1
|
UTSW |
11 |
98155515 |
intron |
probably benign |
|
R4012:Med1
|
UTSW |
11 |
98171706 |
missense |
possibly damaging |
0.85 |
R4112:Med1
|
UTSW |
11 |
98180087 |
missense |
probably damaging |
1.00 |
R4384:Med1
|
UTSW |
11 |
98152862 |
unclassified |
probably benign |
|
R4579:Med1
|
UTSW |
11 |
98158422 |
missense |
possibly damaging |
0.56 |
R4740:Med1
|
UTSW |
11 |
98180264 |
nonsense |
probably null |
|
R4819:Med1
|
UTSW |
11 |
98155432 |
intron |
probably benign |
|
R4879:Med1
|
UTSW |
11 |
98155360 |
unclassified |
probably benign |
|
R4993:Med1
|
UTSW |
11 |
98163904 |
missense |
probably damaging |
1.00 |
R5040:Med1
|
UTSW |
11 |
98155404 |
intron |
probably benign |
|
R5249:Med1
|
UTSW |
11 |
98157240 |
missense |
probably benign |
0.43 |
R5373:Med1
|
UTSW |
11 |
98163963 |
missense |
probably damaging |
0.99 |
R5374:Med1
|
UTSW |
11 |
98163963 |
missense |
probably damaging |
0.99 |
R5552:Med1
|
UTSW |
11 |
98166331 |
nonsense |
probably null |
|
R5692:Med1
|
UTSW |
11 |
98156380 |
intron |
probably benign |
|
R6010:Med1
|
UTSW |
11 |
98158362 |
missense |
probably damaging |
1.00 |
R6149:Med1
|
UTSW |
11 |
98183853 |
missense |
possibly damaging |
0.74 |
R6417:Med1
|
UTSW |
11 |
98157228 |
missense |
probably damaging |
0.97 |
R7301:Med1
|
UTSW |
11 |
98152808 |
missense |
probably benign |
0.23 |
R7507:Med1
|
UTSW |
11 |
98158026 |
missense |
probably damaging |
1.00 |
R7529:Med1
|
UTSW |
11 |
98155965 |
missense |
unknown |
|
R7588:Med1
|
UTSW |
11 |
98155572 |
missense |
unknown |
|
R7654:Med1
|
UTSW |
11 |
98169363 |
missense |
possibly damaging |
0.75 |
R7662:Med1
|
UTSW |
11 |
98155392 |
missense |
unknown |
|
R7679:Med1
|
UTSW |
11 |
98156061 |
missense |
unknown |
|
R7862:Med1
|
UTSW |
11 |
98161210 |
missense |
probably benign |
0.05 |
R8447:Med1
|
UTSW |
11 |
98169414 |
missense |
probably damaging |
1.00 |
R8693:Med1
|
UTSW |
11 |
98155773 |
missense |
unknown |
|
R8843:Med1
|
UTSW |
11 |
98189276 |
missense |
possibly damaging |
0.88 |
R9072:Med1
|
UTSW |
11 |
98189183 |
missense |
possibly damaging |
0.62 |
R9284:Med1
|
UTSW |
11 |
98155540 |
missense |
unknown |
|
R9428:Med1
|
UTSW |
11 |
98189223 |
nonsense |
probably null |
|
Z1176:Med1
|
UTSW |
11 |
98161183 |
missense |
possibly damaging |
0.62 |
|
Posted On |
2012-04-20 |