Incidental Mutation 'R1792:Med1'
ID |
201857 |
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 |
039822-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1792 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
98042980-98084119 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 98048109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamine
at position 896
(K896Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103169
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018304]
[ENSMUST00000092735]
[ENSMUST00000107545]
|
AlphaFold |
Q925J9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018304
AA Change: K881Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000018304 Gene: ENSMUSG00000018160 AA Change: K881Q
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 |
probably damaging
Transcript: ENSMUST00000107545
AA Change: K896Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103169 Gene: ENSMUSG00000018160 AA Change: K896Q
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 |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.4%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
C |
T |
11: 110,074,870 (GRCm39) |
V1398I |
probably benign |
Het |
Ackr3 |
A |
T |
1: 90,142,620 (GRCm39) |
N360Y |
probably benign |
Het |
Acr |
T |
G |
15: 89,457,346 (GRCm39) |
M198R |
probably benign |
Het |
Adamts14 |
A |
T |
10: 61,054,277 (GRCm39) |
M585K |
probably benign |
Het |
Adgrb3 |
A |
T |
1: 25,267,552 (GRCm39) |
C853S |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,067,694 (GRCm39) |
S1410R |
probably benign |
Het |
Asprv1 |
T |
A |
6: 86,605,354 (GRCm39) |
F67I |
possibly damaging |
Het |
Atp8b4 |
T |
A |
2: 126,167,214 (GRCm39) |
Y1095F |
probably benign |
Het |
Cadps |
A |
G |
14: 12,449,802 (GRCm38) |
S1136P |
possibly damaging |
Het |
Ccdc57 |
T |
C |
11: 120,788,707 (GRCm39) |
Q380R |
possibly damaging |
Het |
Cdc45 |
A |
T |
16: 18,626,090 (GRCm39) |
D142E |
probably benign |
Het |
Cs |
A |
T |
10: 128,195,948 (GRCm39) |
N386Y |
possibly damaging |
Het |
Dsc3 |
A |
T |
18: 20,120,055 (GRCm39) |
V201E |
probably damaging |
Het |
Dusp26 |
G |
T |
8: 31,581,963 (GRCm39) |
R19L |
probably benign |
Het |
Esyt3 |
C |
A |
9: 99,240,169 (GRCm39) |
E92* |
probably null |
Het |
Ext2 |
T |
C |
2: 93,534,890 (GRCm39) |
N625D |
probably damaging |
Het |
Flvcr2 |
A |
T |
12: 85,793,929 (GRCm39) |
K102* |
probably null |
Het |
Fmnl2 |
T |
A |
2: 52,932,329 (GRCm39) |
S103T |
possibly damaging |
Het |
Fmo4 |
T |
A |
1: 162,621,859 (GRCm39) |
I451F |
probably benign |
Het |
Gak |
A |
T |
5: 108,733,397 (GRCm39) |
Y47* |
probably null |
Het |
Gbp10 |
A |
T |
5: 105,372,166 (GRCm39) |
L198Q |
probably damaging |
Het |
Gm11559 |
T |
A |
11: 99,755,755 (GRCm39) |
S135T |
unknown |
Het |
Gm14496 |
A |
T |
2: 181,637,946 (GRCm39) |
D340V |
probably benign |
Het |
Grin2a |
T |
C |
16: 9,810,259 (GRCm39) |
T47A |
possibly damaging |
Het |
Gtf2ird1 |
A |
T |
5: 134,395,790 (GRCm39) |
|
probably null |
Het |
Herc4 |
T |
A |
10: 63,081,680 (GRCm39) |
M1K |
probably null |
Het |
Hirip3 |
T |
A |
7: 126,461,792 (GRCm39) |
V29E |
probably damaging |
Het |
Hs3st5 |
A |
G |
10: 36,708,720 (GRCm39) |
D85G |
probably benign |
Het |
Htt |
T |
A |
5: 35,064,543 (GRCm39) |
S2981T |
probably damaging |
Het |
Iho1 |
A |
C |
9: 108,282,111 (GRCm39) |
S526A |
possibly damaging |
Het |
Il20ra |
G |
A |
10: 19,635,384 (GRCm39) |
V542I |
probably damaging |
Het |
Itgb2l |
C |
A |
16: 96,226,282 (GRCm39) |
C603F |
probably damaging |
Het |
Klhl41 |
A |
C |
2: 69,501,146 (GRCm39) |
K202N |
probably benign |
Het |
Lct |
G |
A |
1: 128,255,679 (GRCm39) |
S121F |
possibly damaging |
Het |
Lhx6 |
C |
T |
2: 35,977,387 (GRCm39) |
G355D |
probably damaging |
Het |
Limk2 |
A |
G |
11: 3,308,236 (GRCm39) |
V121A |
probably benign |
Het |
Muc6 |
A |
G |
7: 141,214,371 (GRCm39) |
F2789S |
probably benign |
Het |
Nemf |
T |
A |
12: 69,359,343 (GRCm39) |
Y997F |
probably damaging |
Het |
Nrap |
A |
G |
19: 56,367,590 (GRCm39) |
S296P |
probably benign |
Het |
Nrxn1 |
T |
C |
17: 90,896,252 (GRCm39) |
N961D |
probably damaging |
Het |
Odad2 |
T |
C |
18: 7,286,743 (GRCm39) |
T163A |
probably benign |
Het |
Or1r1 |
A |
C |
11: 73,874,673 (GRCm39) |
S254A |
probably benign |
Het |
Or6c207 |
A |
T |
10: 129,105,112 (GRCm39) |
F27I |
probably benign |
Het |
Or6y1 |
T |
C |
1: 174,276,303 (GRCm39) |
V38A |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pdk4 |
T |
A |
6: 5,489,166 (GRCm39) |
H247L |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,359,237 (GRCm39) |
V866E |
probably damaging |
Het |
Pla2g4e |
G |
A |
2: 119,998,955 (GRCm39) |
P803L |
probably damaging |
Het |
Pnisr |
T |
C |
4: 21,860,968 (GRCm39) |
V217A |
possibly damaging |
Het |
Pole4 |
G |
A |
6: 82,629,720 (GRCm39) |
P34L |
unknown |
Het |
Pole4 |
G |
T |
6: 82,629,721 (GRCm39) |
P34T |
unknown |
Het |
Ptchd3 |
G |
A |
11: 121,732,377 (GRCm39) |
W422* |
probably null |
Het |
Rab1b |
C |
T |
19: 5,150,513 (GRCm39) |
A167T |
probably benign |
Het |
Rasal1 |
T |
C |
5: 120,802,821 (GRCm39) |
M359T |
probably benign |
Het |
Rexo4 |
T |
C |
2: 26,850,248 (GRCm39) |
N310D |
probably benign |
Het |
Rgma |
C |
T |
7: 73,067,585 (GRCm39) |
T280M |
probably damaging |
Het |
Rnaset2a |
A |
T |
17: 8,364,408 (GRCm39) |
I43N |
probably damaging |
Het |
Rtcb |
A |
T |
10: 85,778,446 (GRCm39) |
V399E |
probably damaging |
Het |
Scd4 |
T |
G |
19: 44,326,013 (GRCm39) |
Y122* |
probably null |
Het |
Sirt6 |
T |
C |
10: 81,462,355 (GRCm39) |
I15V |
possibly damaging |
Het |
Slamf8 |
A |
T |
1: 172,415,526 (GRCm39) |
V104E |
possibly damaging |
Het |
Slc12a4 |
A |
G |
8: 106,678,475 (GRCm39) |
I285T |
possibly damaging |
Het |
Slc25a13 |
G |
A |
6: 6,115,104 (GRCm39) |
A207V |
possibly damaging |
Het |
Slc6a21 |
T |
C |
7: 44,930,155 (GRCm39) |
S185P |
probably benign |
Het |
Smarcc2 |
A |
C |
10: 128,299,740 (GRCm39) |
N135T |
probably damaging |
Het |
Susd6 |
T |
C |
12: 80,921,065 (GRCm39) |
S221P |
probably damaging |
Het |
Syne1 |
C |
T |
10: 4,990,975 (GRCm39) |
G8418D |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,640,559 (GRCm39) |
K193E |
possibly damaging |
Het |
Tbc1d7 |
C |
T |
13: 43,318,853 (GRCm39) |
V95I |
probably benign |
Het |
Tcerg1l |
T |
C |
7: 137,963,595 (GRCm39) |
D225G |
probably benign |
Het |
Tfip11 |
A |
T |
5: 112,477,263 (GRCm39) |
I82F |
possibly damaging |
Het |
Tmem41a |
C |
T |
16: 21,755,731 (GRCm39) |
G192S |
probably null |
Het |
Trrap |
G |
A |
5: 144,790,396 (GRCm39) |
A3619T |
possibly damaging |
Het |
Tspoap1 |
G |
A |
11: 87,656,707 (GRCm39) |
|
probably null |
Het |
Wfdc21 |
T |
C |
11: 83,637,883 (GRCm39) |
S11P |
probably benign |
Het |
Zc2hc1b |
A |
T |
10: 13,044,474 (GRCm39) |
V63E |
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 |
|
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 |
|
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'- CTGTGGTGCTCCATCAGATC -3'
(R):5'- AGTTCTGGGCATTCTCAGAGTG -3'
Sequencing Primer
(F):5'- TGGTGCTCCATCAGATCTGCAG -3'
(R):5'- ATACACTGATCCAGCTGACCTTATTG -3'
|
Posted On |
2014-06-23 |