Incidental Mutation 'R9072:Med1'
| ID |
700822 |
| 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 |
068894-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9072 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98042980-98084119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98080009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 44
(M44K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018304]
[ENSMUST00000092735]
[ENSMUST00000107545]
|
| AlphaFold |
Q925J9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018304
AA Change: M29K
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: M29K
| 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 |
possibly damaging
Transcript: ENSMUST00000092735
AA Change: M44K
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160
AA Change: M44K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med1
|
33 |
429 |
1.2e-113 |
PFAM |
|
transmembrane domain
|
585 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107545
AA Change: M44K
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: M44K
| 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: ENSMUST00000121487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129557
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (63/63) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,240,834 (GRCm39) |
E899A |
possibly damaging |
Het |
| Best2 |
T |
A |
8: 85,737,418 (GRCm39) |
I230F |
probably damaging |
Het |
| C2cd2 |
T |
C |
16: 97,676,403 (GRCm39) |
E448G |
probably damaging |
Het |
| C2cd3 |
T |
G |
7: 100,040,291 (GRCm39) |
S287A |
probably benign |
Het |
| Camta2 |
G |
A |
11: 70,567,234 (GRCm39) |
P677S |
probably benign |
Het |
| Cand2 |
C |
T |
6: 115,769,490 (GRCm39) |
R767C |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,704,293 (GRCm39) |
E259K |
probably benign |
Het |
| Cep250 |
C |
G |
2: 155,834,035 (GRCm39) |
Q1987E |
probably benign |
Het |
| Chn1 |
T |
C |
2: 73,443,430 (GRCm39) |
D440G |
probably benign |
Het |
| Cmbl |
A |
T |
15: 31,585,449 (GRCm39) |
D111V |
possibly damaging |
Het |
| Col5a3 |
T |
A |
9: 20,682,453 (GRCm39) |
I1664F |
unknown |
Het |
| Cp |
T |
C |
3: 20,033,158 (GRCm39) |
S662P |
possibly damaging |
Het |
| Cpne5 |
G |
A |
17: 29,430,677 (GRCm39) |
R78C |
probably damaging |
Het |
| Cst5 |
A |
G |
2: 149,249,261 (GRCm39) |
T104A |
probably benign |
Het |
| Cyp11b2 |
A |
G |
15: 74,725,662 (GRCm39) |
F195S |
possibly damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,920,136 (GRCm39) |
Y475H |
probably benign |
Het |
| Edem2 |
G |
C |
2: 155,571,212 (GRCm39) |
L16V |
unknown |
Het |
| Eeig1 |
A |
G |
2: 32,455,674 (GRCm39) |
S267G |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,644,144 (GRCm39) |
W46R |
probably benign |
Het |
| Gal3st3 |
T |
A |
19: 5,352,605 (GRCm39) |
S11T |
probably benign |
Het |
| Garin5b |
A |
T |
7: 4,762,253 (GRCm39) |
H265Q |
|
Het |
| Gfi1 |
T |
A |
5: 107,865,725 (GRCm39) |
I451F |
possibly damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,714,185 (GRCm39) |
L314P |
probably damaging |
Het |
| Gm3250 |
A |
T |
10: 77,618,127 (GRCm39) |
C84S |
unknown |
Het |
| Hmcn1 |
A |
T |
1: 150,565,320 (GRCm39) |
V2269E |
probably benign |
Het |
| Ighv1-55 |
T |
C |
12: 115,172,013 (GRCm39) |
H18R |
probably benign |
Het |
| Iqgap3 |
G |
A |
3: 87,998,883 (GRCm39) |
G328E |
probably benign |
Het |
| Klf6 |
G |
T |
13: 5,917,233 (GRCm39) |
C303F |
probably benign |
Het |
| Klhl35 |
A |
T |
7: 99,122,129 (GRCm39) |
S77C |
probably damaging |
Het |
| Ktn1 |
T |
G |
14: 47,941,694 (GRCm39) |
V822G |
probably benign |
Het |
| Lbhd2 |
G |
T |
12: 111,375,040 (GRCm39) |
G21W |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 40,615,457 (GRCm39) |
R3649* |
probably null |
Het |
| Map2 |
C |
A |
1: 66,453,312 (GRCm39) |
T734N |
probably damaging |
Het |
| Mas1 |
A |
G |
17: 13,060,839 (GRCm39) |
F195L |
possibly damaging |
Het |
| Morc3 |
T |
C |
16: 93,667,482 (GRCm39) |
V620A |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Nucb2 |
T |
A |
7: 116,125,631 (GRCm39) |
I159N |
probably damaging |
Het |
| Olfm5 |
A |
G |
7: 103,802,984 (GRCm39) |
L493P |
probably benign |
Het |
| Or1e1 |
T |
G |
11: 73,244,797 (GRCm39) |
F73V |
probably damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,759 (GRCm39) |
C127* |
probably null |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Pcdhb22 |
T |
A |
18: 37,651,813 (GRCm39) |
C94S |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,537 (GRCm39) |
I662V |
probably benign |
Het |
| Plcb2 |
G |
A |
2: 118,547,878 (GRCm39) |
T472M |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,849,795 (GRCm39) |
E1142G |
possibly damaging |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Polr2l |
T |
C |
7: 141,053,285 (GRCm39) |
Y43C |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,127,771 (GRCm39) |
N298K |
probably benign |
Het |
| Ptar1 |
T |
A |
19: 23,695,414 (GRCm39) |
C294S |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,401,736 (GRCm39) |
I1919V |
|
Het |
| Slc25a18 |
C |
T |
6: 120,769,022 (GRCm39) |
R180C |
probably benign |
Het |
| Slc27a3 |
A |
C |
3: 90,295,768 (GRCm39) |
S285R |
probably damaging |
Het |
| Smg1 |
C |
T |
7: 117,783,032 (GRCm39) |
V1092I |
unknown |
Het |
| Spata19 |
T |
G |
9: 27,309,024 (GRCm39) |
I54R |
possibly damaging |
Het |
| St6galnac5 |
T |
C |
3: 152,551,956 (GRCm39) |
T204A |
probably benign |
Het |
| Tdpoz8 |
T |
A |
3: 92,981,341 (GRCm39) |
C46S |
probably benign |
Het |
| Trpc3 |
T |
C |
3: 36,694,831 (GRCm39) |
I708V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,183 (GRCm39) |
E1999G |
unknown |
Het |
| Ube3b |
C |
T |
5: 114,542,607 (GRCm39) |
T488M |
probably damaging |
Het |
| Vmn1r235 |
A |
T |
17: 21,482,271 (GRCm39) |
I199F |
probably benign |
Het |
| Vsig8 |
A |
T |
1: 172,388,340 (GRCm39) |
N215Y |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,399,417 (GRCm39) |
K162R |
possibly damaging |
Het |
| Wdpcp |
A |
G |
11: 21,614,014 (GRCm39) |
T60A |
probably benign |
Het |
| Wdr26 |
A |
T |
1: 181,010,351 (GRCm39) |
I566N |
probably damaging |
Het |
| Wdr46 |
C |
T |
17: 34,163,555 (GRCm39) |
T371M |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,344,923 (GRCm39) |
S1101P |
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 |
|
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 |
|
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'- CATTCGGGAGCTAGCTTCTC -3'
(R):5'- TGTAGGAGAAACTGTGGAAGTCTTG -3'
Sequencing Primer
(F):5'- CTCCCGAGTGCTGGGATTAAAG -3'
(R):5'- AAACTGTGGAAGTCTTGATGTCAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation