Incidental Mutation 'R7679:Med1'
| ID |
592654 |
| 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 |
045707-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7679 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98042980-98084119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 98046887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Arginine
at position 1303
(P1303R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018304]
[ENSMUST00000092735]
[ENSMUST00000107545]
|
| AlphaFold |
Q925J9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000018304
AA Change: P1288R
|
| SMART Domains |
Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: P1288R
| 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: P1303R
|
| SMART Domains |
Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: P1303R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
A |
C |
14: 78,752,256 (GRCm39) |
Y206D |
|
Het |
| Atm |
A |
T |
9: 53,353,797 (GRCm39) |
I2906N |
probably damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,647,678 (GRCm39) |
V422A |
probably benign |
Het |
| Bod1l |
TTCAGGGATC |
TTC |
5: 41,977,986 (GRCm39) |
|
probably null |
Het |
| Ccar2 |
G |
A |
14: 70,376,684 (GRCm39) |
Q887* |
probably null |
Het |
| Cdh13 |
A |
G |
8: 119,963,658 (GRCm39) |
I413V |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,803,374 (GRCm39) |
V1556A |
probably benign |
Het |
| Chchd7 |
A |
T |
4: 3,941,297 (GRCm39) |
N14Y |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,105,110 (GRCm39) |
T824N |
possibly damaging |
Het |
| Col6a3 |
A |
T |
1: 90,739,473 (GRCm39) |
Y859N |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,136,392 (GRCm39) |
P131S |
unknown |
Het |
| Erh |
T |
C |
12: 80,684,345 (GRCm39) |
N44S |
probably benign |
Het |
| Esm1 |
T |
A |
13: 113,346,646 (GRCm39) |
D90E |
probably damaging |
Het |
| Fbxo44 |
A |
G |
4: 148,238,089 (GRCm39) |
F213L |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,456,789 (GRCm39) |
T2262A |
probably benign |
Het |
| Fmo9 |
T |
C |
1: 166,495,058 (GRCm39) |
Q281R |
probably benign |
Het |
| Gdpgp1 |
G |
T |
7: 79,888,324 (GRCm39) |
E118D |
probably benign |
Het |
| Gnas |
A |
T |
2: 174,126,624 (GRCm39) |
Q53L |
probably damaging |
Het |
| Gpr142 |
G |
A |
11: 114,697,533 (GRCm39) |
V360M |
possibly damaging |
Het |
| Grn |
A |
G |
11: 102,323,895 (GRCm39) |
D46G |
probably benign |
Het |
| H2-T10 |
A |
G |
17: 36,430,216 (GRCm39) |
F242L |
not run |
Het |
| Hgsnat |
T |
C |
8: 26,444,665 (GRCm39) |
T428A |
probably damaging |
Het |
| Hoxa9 |
A |
G |
6: 52,201,288 (GRCm39) |
I251T |
probably damaging |
Het |
| Inpp5f |
C |
T |
7: 128,296,247 (GRCm39) |
T866I |
possibly damaging |
Het |
| Itgb1 |
T |
A |
8: 129,446,929 (GRCm39) |
N481K |
probably damaging |
Het |
| Leng9 |
C |
A |
7: 4,152,659 (GRCm39) |
D6Y |
probably benign |
Het |
| Lox |
A |
C |
18: 52,658,178 (GRCm39) |
F332V |
possibly damaging |
Het |
| Lrp1 |
G |
T |
10: 127,424,297 (GRCm39) |
Y796* |
probably null |
Het |
| Lrrc32 |
G |
A |
7: 98,148,894 (GRCm39) |
G558D |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,610,389 (GRCm39) |
E707G |
possibly damaging |
Het |
| Matn4 |
A |
G |
2: 164,231,578 (GRCm39) |
*625R |
probably null |
Het |
| Mcur1 |
T |
A |
13: 43,697,959 (GRCm39) |
K314* |
probably null |
Het |
| Mgam |
T |
C |
6: 40,619,980 (GRCm39) |
L23P |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,651,205 (GRCm39) |
I936V |
probably benign |
Het |
| Nol11 |
T |
C |
11: 107,064,142 (GRCm39) |
S557G |
probably benign |
Het |
| Palb2 |
A |
G |
7: 121,727,237 (GRCm39) |
I211T |
probably benign |
Het |
| Pard3 |
T |
C |
8: 128,098,327 (GRCm39) |
V456A |
probably benign |
Het |
| Pax2 |
G |
A |
19: 44,749,376 (GRCm39) |
V40M |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,970,660 (GRCm39) |
K344E |
probably benign |
Het |
| Pik3r3 |
T |
A |
4: 116,113,392 (GRCm39) |
M45K |
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Pot1a |
A |
G |
6: 25,771,633 (GRCm39) |
V196A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,649,183 (GRCm39) |
I3719N |
probably damaging |
Het |
| Psg16 |
G |
A |
7: 16,827,685 (GRCm39) |
G123S |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,828,425 (GRCm39) |
D1815G |
probably damaging |
Het |
| Rpe65 |
C |
T |
3: 159,310,030 (GRCm39) |
T101I |
probably damaging |
Het |
| Rpp25l |
A |
C |
4: 41,712,326 (GRCm39) |
C150G |
unknown |
Het |
| Saxo4 |
T |
C |
19: 10,459,618 (GRCm39) |
T30A |
probably damaging |
Het |
| Serpina1b |
A |
T |
12: 103,696,774 (GRCm39) |
W212R |
probably damaging |
Het |
| Slc9a3 |
G |
A |
13: 74,308,395 (GRCm39) |
R466H |
possibly damaging |
Het |
| Sned1 |
T |
C |
1: 93,163,760 (GRCm39) |
L17P |
unknown |
Het |
| Speg |
C |
T |
1: 75,382,959 (GRCm39) |
T1056I |
probably damaging |
Het |
| Tada1 |
T |
C |
1: 166,219,540 (GRCm39) |
F281L |
probably benign |
Het |
| Tbcd |
G |
A |
11: 121,494,534 (GRCm39) |
V1032I |
probably benign |
Het |
| Tlr3 |
A |
T |
8: 45,852,088 (GRCm39) |
S270T |
probably benign |
Het |
| Txndc15 |
G |
T |
13: 55,873,621 (GRCm39) |
R327L |
probably damaging |
Het |
| Zfp169 |
G |
C |
13: 48,651,859 (GRCm39) |
L66V |
probably damaging |
Het |
| Zfp442 |
G |
T |
2: 150,252,917 (GRCm39) |
Y45* |
probably null |
Het |
| Zzef1 |
A |
G |
11: 72,784,104 (GRCm39) |
D2003G |
probably benign |
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 |
|
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 |
|
|
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'- TCTTAGAGGAATCCACTGACCC -3'
(R):5'- AAGTCATCTTCAGGGTCAGC -3'
Sequencing Primer
(F):5'- AAGCAGAGACCTTGGATTTGTC -3'
(R):5'- TTCAGGGTCAGCATCCTCAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation