Incidental Mutation 'R4819:Med1'
ID |
370069 |
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 |
042000-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4819 (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 98046258 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: D1498N
|
SMART Domains |
Protein: ENSMUSP00000018304 Gene: ENSMUSG00000018160 AA Change: D1498N
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: D1513N
|
SMART Domains |
Protein: ENSMUSP00000103169 Gene: ENSMUSG00000018160 AA Change: D1513N
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: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,240,421 (GRCm39) |
N761K |
possibly damaging |
Het |
Adgrf3 |
T |
A |
5: 30,403,442 (GRCm39) |
L444F |
possibly damaging |
Het |
Akap8 |
G |
A |
17: 32,531,279 (GRCm39) |
R378W |
probably damaging |
Het |
Amotl2 |
C |
T |
9: 102,607,270 (GRCm39) |
R693W |
probably damaging |
Het |
As3mt |
G |
T |
19: 46,695,968 (GRCm39) |
|
probably benign |
Het |
Atp6v1e2 |
A |
G |
17: 87,251,966 (GRCm39) |
V144A |
probably benign |
Het |
Bfar |
C |
T |
16: 13,505,331 (GRCm39) |
Q114* |
probably null |
Het |
Casd1 |
C |
T |
6: 4,621,225 (GRCm39) |
A261V |
probably damaging |
Het |
Cd177 |
A |
T |
7: 24,451,696 (GRCm39) |
I440K |
probably damaging |
Het |
Cfap54 |
G |
T |
10: 92,672,339 (GRCm39) |
Y2910* |
probably null |
Het |
Csl |
A |
G |
10: 99,593,944 (GRCm39) |
F374L |
possibly damaging |
Het |
Dctn1 |
G |
A |
6: 83,167,501 (GRCm39) |
R275H |
probably damaging |
Het |
Derl3 |
A |
G |
10: 75,729,713 (GRCm39) |
|
probably null |
Het |
Dst |
A |
G |
1: 34,007,916 (GRCm39) |
I117V |
probably benign |
Het |
Edc3 |
T |
A |
9: 57,655,680 (GRCm39) |
C477S |
possibly damaging |
Het |
Efs |
T |
C |
14: 55,154,610 (GRCm39) |
E450G |
probably damaging |
Het |
Fcrla |
T |
A |
1: 170,748,508 (GRCm39) |
I212F |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,818,786 (GRCm39) |
I4840V |
probably benign |
Het |
Gpam |
T |
A |
19: 55,066,773 (GRCm39) |
I581F |
probably benign |
Het |
Greb1l |
A |
G |
18: 10,458,358 (GRCm39) |
D45G |
probably damaging |
Het |
Heca |
A |
G |
10: 17,783,820 (GRCm39) |
Y478H |
probably damaging |
Het |
Hspa9 |
C |
T |
18: 35,072,441 (GRCm39) |
M561I |
probably damaging |
Het |
Hyal6 |
T |
A |
6: 24,734,965 (GRCm39) |
Y299* |
probably null |
Het |
Iho1 |
A |
G |
9: 108,283,877 (GRCm39) |
V189A |
probably benign |
Het |
Ik |
T |
A |
18: 36,886,310 (GRCm39) |
|
probably null |
Het |
Khsrp |
A |
G |
17: 57,330,360 (GRCm39) |
S582P |
possibly damaging |
Het |
Kif18a |
A |
G |
2: 109,122,471 (GRCm39) |
D182G |
probably damaging |
Het |
Krt1c |
T |
C |
15: 101,719,979 (GRCm39) |
T564A |
unknown |
Het |
Lig4 |
A |
G |
8: 10,021,885 (GRCm39) |
S632P |
probably benign |
Het |
Mgat3 |
T |
A |
15: 80,096,550 (GRCm39) |
I459N |
probably damaging |
Het |
Mkln1 |
A |
T |
6: 31,451,421 (GRCm39) |
Q454L |
probably benign |
Het |
Mn1 |
A |
G |
5: 111,567,803 (GRCm39) |
E591G |
possibly damaging |
Het |
Myo5c |
T |
A |
9: 75,199,484 (GRCm39) |
L1364Q |
probably damaging |
Het |
Oas1d |
T |
C |
5: 121,053,780 (GRCm39) |
V80A |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,929,674 (GRCm39) |
D5180E |
probably damaging |
Het |
Pax6 |
G |
A |
2: 105,522,622 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
A |
C |
10: 74,160,221 (GRCm39) |
N446T |
probably damaging |
Het |
Pcnx2 |
A |
T |
8: 126,581,969 (GRCm39) |
F922L |
probably benign |
Het |
Ptpn4 |
G |
T |
1: 119,587,580 (GRCm39) |
T921K |
probably benign |
Het |
Selenov |
A |
G |
7: 27,989,746 (GRCm39) |
|
probably null |
Het |
Tmem100 |
A |
G |
11: 89,926,271 (GRCm39) |
T33A |
probably benign |
Het |
Tmem59 |
C |
T |
4: 107,044,878 (GRCm39) |
Q66* |
probably null |
Het |
Trav21-dv12 |
T |
A |
14: 54,114,070 (GRCm39) |
Y63* |
probably null |
Het |
Trim66 |
G |
T |
7: 109,056,793 (GRCm39) |
H1121Q |
probably damaging |
Het |
Trim80 |
A |
G |
11: 115,338,769 (GRCm39) |
Y533C |
probably damaging |
Het |
Ttc17 |
G |
A |
2: 94,194,955 (GRCm39) |
P520L |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,622,093 (GRCm39) |
V15483E |
probably damaging |
Het |
Vinac1 |
G |
T |
2: 128,882,721 (GRCm39) |
N98K |
probably damaging |
Het |
Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
Zfhx4 |
C |
A |
3: 5,468,974 (GRCm39) |
T3069K |
probably benign |
Het |
Zfp281 |
A |
G |
1: 136,553,448 (GRCm39) |
H142R |
probably benign |
Het |
Zfp462 |
G |
T |
4: 55,060,044 (GRCm39) |
R1190L |
probably damaging |
Het |
Zfp935 |
T |
A |
13: 62,602,231 (GRCm39) |
H323L |
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 |
|
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 |
|
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'- GGCCACATCCATGAGATCATC -3'
(R):5'- ATCAGTGGTTCCACTCCAAAG -3'
Sequencing Primer
(F):5'- GCCACATCCATGAGATCATCATCTTC -3'
(R):5'- GGTTCTCCCAGCCACAGTAAGTC -3'
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Posted On |
2016-02-04 |