Incidental Mutation 'R1631:Med1'
| ID |
172808 |
| 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 |
039668-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1631 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98042980-98084119 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 98046452 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: G1433D
|
| SMART Domains |
Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: G1433D
| 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: G1448D
|
| SMART Domains |
Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: G1448D
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.0%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
T |
A |
17: 33,756,316 (GRCm39) |
S320T |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,257,226 (GRCm39) |
E12G |
probably benign |
Het |
| Arhgef10 |
A |
T |
8: 14,997,157 (GRCm39) |
D321V |
probably damaging |
Het |
| Atp8a1 |
T |
G |
5: 67,906,395 (GRCm39) |
|
probably null |
Het |
| Avil |
A |
G |
10: 126,846,494 (GRCm39) |
|
probably null |
Het |
| C2cd3 |
G |
A |
7: 100,021,704 (GRCm39) |
|
probably null |
Het |
| Cdhr18 |
C |
T |
14: 13,829,796 (GRCm38) |
E649K |
probably damaging |
Het |
| Col18a1 |
G |
A |
10: 76,895,131 (GRCm39) |
P1177S |
probably damaging |
Het |
| Copb2 |
T |
A |
9: 98,462,213 (GRCm39) |
F428L |
probably benign |
Het |
| Cpa1 |
A |
G |
6: 30,640,923 (GRCm39) |
E138G |
probably damaging |
Het |
| Ctsm |
T |
C |
13: 61,686,249 (GRCm39) |
I12V |
possibly damaging |
Het |
| Dctn1 |
A |
G |
6: 83,174,578 (GRCm39) |
Q967R |
possibly damaging |
Het |
| Dok2 |
T |
C |
14: 71,014,393 (GRCm39) |
Y194H |
probably damaging |
Het |
| Ezh2 |
C |
T |
6: 47,554,592 (GRCm39) |
M1I |
probably null |
Het |
| Fkbp8 |
T |
A |
8: 70,984,282 (GRCm39) |
L210Q |
probably damaging |
Het |
| Fpr1 |
T |
A |
17: 18,097,263 (GRCm39) |
Q242L |
probably benign |
Het |
| Gal3st2b |
T |
A |
1: 93,868,505 (GRCm39) |
D243E |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,125,802 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1a2 |
A |
G |
9: 3,533,052 (GRCm39) |
N84D |
probably damaging |
Het |
| Hsd3b5 |
A |
C |
3: 98,529,393 (GRCm39) |
V79G |
probably damaging |
Het |
| Htr6 |
A |
T |
4: 138,788,804 (GRCm39) |
V417E |
probably benign |
Het |
| Ifnar2 |
G |
A |
16: 91,188,755 (GRCm39) |
V79I |
probably benign |
Het |
| Ighv10-1 |
T |
C |
12: 114,443,102 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,081,788 (GRCm39) |
F182L |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lama3 |
A |
G |
18: 12,540,551 (GRCm39) |
Y285C |
probably damaging |
Het |
| Lamc2 |
C |
A |
1: 153,034,680 (GRCm39) |
V108L |
possibly damaging |
Het |
| Lrrc14b |
A |
G |
13: 74,509,373 (GRCm39) |
|
probably null |
Het |
| Magi3 |
T |
C |
3: 103,958,493 (GRCm39) |
T531A |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 23,966,011 (GRCm39) |
Y32C |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nt5el |
C |
A |
13: 105,218,749 (GRCm39) |
Q28K |
probably benign |
Het |
| Or10a3b |
A |
C |
7: 108,445,064 (GRCm39) |
L51R |
probably damaging |
Het |
| Or51h1 |
A |
G |
7: 102,308,408 (GRCm39) |
I127V |
probably damaging |
Het |
| Or5h23 |
G |
A |
16: 58,906,408 (GRCm39) |
T146I |
probably benign |
Het |
| Or7a35 |
A |
T |
10: 78,853,239 (GRCm39) |
I28L |
probably benign |
Het |
| Pde1b |
A |
G |
15: 103,430,099 (GRCm39) |
T143A |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,593,121 (GRCm39) |
D1664G |
probably benign |
Het |
| Plod3 |
C |
T |
5: 137,017,847 (GRCm39) |
R208W |
probably damaging |
Het |
| Pstk |
G |
A |
7: 130,986,271 (GRCm39) |
A277T |
possibly damaging |
Het |
| Qrich1 |
T |
C |
9: 108,411,684 (GRCm39) |
V403A |
probably damaging |
Het |
| Rad21 |
C |
A |
15: 51,833,436 (GRCm39) |
V348F |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,448,181 (GRCm39) |
L3409* |
probably null |
Het |
| Setd4 |
T |
A |
16: 93,390,136 (GRCm39) |
K98* |
probably null |
Het |
| Skint5 |
A |
G |
4: 113,341,123 (GRCm39) |
V1385A |
probably benign |
Het |
| Stam |
C |
A |
2: 14,151,059 (GRCm39) |
S472* |
probably null |
Het |
| Stx2 |
A |
G |
5: 129,069,289 (GRCm39) |
F141L |
probably damaging |
Het |
| Tia1 |
A |
G |
6: 86,397,330 (GRCm39) |
D101G |
probably damaging |
Het |
| Ttc21a |
T |
A |
9: 119,783,228 (GRCm39) |
|
probably null |
Het |
| Usp34 |
T |
A |
11: 23,410,651 (GRCm39) |
N2700K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAATTGCCAATCAGGGCCACATC -3'
(R):5'- TCATTATCAGCAAGCACGACGGAG -3'
Sequencing Primer
(F):5'- ATAGGGTTATTTGTCACAGACGCC -3'
(R):5'- GAGGCTCCCCGAGCATC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation