Incidental Mutation 'R9428:Med1'
ID |
712752 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9428 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
98042980-98084119 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 98080049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 31
(R31*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103169
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018304]
[ENSMUST00000092735]
[ENSMUST00000107545]
|
AlphaFold |
Q925J9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000018304
AA Change: R16*
|
SMART Domains |
Protein: ENSMUSP00000018304 Gene: ENSMUSG00000018160 AA Change: R16*
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 null
Transcript: ENSMUST00000092735
AA Change: R31*
|
SMART Domains |
Protein: ENSMUSP00000090411 Gene: ENSMUSG00000018160 AA Change: R31*
Domain | Start | End | E-Value | Type |
Pfam:Med1
|
33 |
429 |
1.2e-113 |
PFAM |
transmembrane domain
|
585 |
607 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107545
AA Change: R31*
|
SMART Domains |
Protein: ENSMUSP00000103169 Gene: ENSMUSG00000018160 AA Change: R31*
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: 99.7%
- 20x: 99.0%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
Agmo |
A |
G |
12: 37,455,330 (GRCm39) |
I281M |
probably benign |
Het |
Ahdc1 |
C |
T |
4: 132,791,773 (GRCm39) |
P1005S |
possibly damaging |
Het |
Akap12 |
T |
A |
10: 4,303,409 (GRCm39) |
V178D |
probably damaging |
Het |
Arc |
A |
G |
15: 74,543,063 (GRCm39) |
S387P |
probably benign |
Het |
Arhgap11a |
C |
T |
2: 113,667,279 (GRCm39) |
V423I |
probably benign |
Het |
Arhgap44 |
A |
G |
11: 64,899,168 (GRCm39) |
S670P |
probably damaging |
Het |
C4b |
G |
A |
17: 34,949,885 (GRCm39) |
T1433M |
possibly damaging |
Het |
C4bp |
A |
T |
1: 130,581,094 (GRCm39) |
F138L |
probably benign |
Het |
Carmil1 |
A |
T |
13: 24,295,834 (GRCm39) |
C393* |
probably null |
Het |
Cblif |
A |
G |
19: 11,735,102 (GRCm39) |
T241A |
probably benign |
Het |
Celsr1 |
A |
T |
15: 85,815,549 (GRCm39) |
V1822E |
possibly damaging |
Het |
Chgb |
C |
G |
2: 132,635,154 (GRCm39) |
S365R |
probably damaging |
Het |
Cnih3 |
T |
C |
1: 181,180,857 (GRCm39) |
|
probably benign |
Het |
Dcaf1 |
T |
A |
9: 106,735,528 (GRCm39) |
D825E |
possibly damaging |
Het |
Dlx3 |
T |
C |
11: 95,011,430 (GRCm39) |
Y95H |
probably benign |
Het |
Dmbt1 |
A |
T |
7: 130,668,208 (GRCm39) |
E488V |
unknown |
Het |
Espnl |
A |
G |
1: 91,273,595 (GRCm39) |
Y985C |
probably damaging |
Het |
Frmpd2 |
T |
C |
14: 33,272,010 (GRCm39) |
V1048A |
probably damaging |
Het |
Fxn |
A |
T |
19: 24,249,787 (GRCm39) |
L100Q |
probably damaging |
Het |
Gapvd1 |
T |
A |
2: 34,607,318 (GRCm39) |
D560V |
probably damaging |
Het |
Gm4924 |
T |
A |
10: 82,213,490 (GRCm39) |
H429Q |
unknown |
Het |
Gpr158 |
T |
C |
2: 21,787,972 (GRCm39) |
F538L |
probably benign |
Het |
Itpr1 |
T |
A |
6: 108,378,308 (GRCm39) |
M1278K |
possibly damaging |
Het |
Ivd |
T |
A |
2: 118,708,369 (GRCm39) |
V361E |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,899,821 (GRCm39) |
L30P |
probably damaging |
Het |
Lipo4 |
C |
T |
19: 33,495,074 (GRCm39) |
V35I |
probably benign |
Het |
Lmo7 |
A |
G |
14: 102,155,076 (GRCm39) |
D1200G |
probably damaging |
Het |
Mill2 |
A |
T |
7: 18,573,950 (GRCm39) |
R12* |
probably null |
Het |
Mphosph8 |
A |
G |
14: 56,934,114 (GRCm39) |
|
probably null |
Het |
Mtfr2 |
T |
A |
10: 20,233,039 (GRCm39) |
S203T |
possibly damaging |
Het |
Muc5ac |
A |
C |
7: 141,362,559 (GRCm39) |
T1957P |
unknown |
Het |
Mxi1 |
C |
A |
19: 53,299,213 (GRCm39) |
P28Q |
probably benign |
Het |
Mycbpap |
T |
C |
11: 94,393,995 (GRCm39) |
D367G |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,605,176 (GRCm39) |
T966A |
probably benign |
Het |
Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
Ndst2 |
A |
T |
14: 20,775,470 (GRCm39) |
F673L |
possibly damaging |
Het |
Ndst3 |
T |
A |
3: 123,340,518 (GRCm39) |
I767F |
probably benign |
Het |
Nell1 |
A |
T |
7: 50,503,683 (GRCm39) |
D696V |
probably damaging |
Het |
Nol9 |
A |
T |
4: 152,124,109 (GRCm39) |
T100S |
probably benign |
Het |
Nr4a1 |
T |
C |
15: 101,168,245 (GRCm39) |
S94P |
probably damaging |
Het |
Nrdc |
T |
C |
4: 108,858,121 (GRCm39) |
I31T |
probably damaging |
Het |
Oas2 |
T |
A |
5: 120,887,576 (GRCm39) |
D88V |
probably damaging |
Het |
Or8w1 |
T |
C |
2: 87,465,774 (GRCm39) |
I106V |
probably benign |
Het |
Pex6 |
A |
G |
17: 47,022,991 (GRCm39) |
H189R |
probably benign |
Het |
Pgap1 |
A |
G |
1: 54,575,206 (GRCm39) |
S239P |
probably damaging |
Het |
Pheta1 |
C |
T |
5: 121,991,147 (GRCm39) |
P170S |
possibly damaging |
Het |
Plec |
A |
G |
15: 76,067,721 (GRCm39) |
|
probably null |
Het |
Plekhg5 |
T |
C |
4: 152,192,780 (GRCm39) |
V582A |
probably benign |
Het |
Plekhh2 |
G |
T |
17: 84,873,841 (GRCm39) |
E375D |
probably benign |
Het |
Pramel55 |
G |
T |
5: 95,949,545 (GRCm39) |
R97S |
probably damaging |
Het |
Prp2rt |
A |
G |
13: 97,235,724 (GRCm39) |
S8P |
probably benign |
Het |
Psmd4 |
G |
A |
3: 94,940,767 (GRCm39) |
T332I |
probably benign |
Het |
Ptprc |
T |
A |
1: 138,041,485 (GRCm39) |
T76S |
probably benign |
Het |
Rab44 |
A |
T |
17: 29,358,315 (GRCm39) |
I168L |
|
Het |
Ros1 |
T |
C |
10: 51,958,061 (GRCm39) |
T1872A |
probably benign |
Het |
Scgb1b24 |
A |
T |
7: 33,443,493 (GRCm39) |
K51* |
probably null |
Het |
Scube2 |
A |
T |
7: 109,428,345 (GRCm39) |
D509E |
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,393,067 (GRCm39) |
S123R |
probably damaging |
Het |
Smc3 |
G |
C |
19: 53,617,150 (GRCm39) |
R521P |
possibly damaging |
Het |
Socs4 |
G |
A |
14: 47,528,034 (GRCm39) |
R323H |
probably damaging |
Het |
Socs5 |
T |
A |
17: 87,441,067 (GRCm39) |
D2E |
probably benign |
Het |
Sra1 |
A |
G |
18: 36,810,299 (GRCm39) |
V121A |
probably damaging |
Het |
Stimate |
T |
C |
14: 30,594,645 (GRCm39) |
S253P |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,601,548 (GRCm39) |
L143P |
probably damaging |
Het |
Tcerg1l |
A |
T |
7: 137,811,490 (GRCm39) |
F568Y |
probably damaging |
Het |
Trpm7 |
T |
C |
2: 126,671,140 (GRCm39) |
E614G |
probably damaging |
Het |
Tuba4a |
G |
T |
1: 75,192,686 (GRCm39) |
H337Q |
|
Het |
Tubgcp6 |
G |
A |
15: 88,985,100 (GRCm39) |
H1663Y |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,175,316 (GRCm39) |
Y1138C |
probably damaging |
Het |
Vmn1r18 |
A |
T |
6: 57,367,535 (GRCm39) |
N6K |
possibly damaging |
Het |
Vmn1r213 |
G |
A |
13: 23,195,944 (GRCm39) |
A176T |
|
Het |
Vmn1r215 |
A |
T |
13: 23,260,749 (GRCm39) |
H263L |
probably benign |
Het |
Vmn2r51 |
CGGCCAATAGAAGAAACTTTTACCTTCAAGCAGTGAGAACTGGC |
CGGC |
7: 9,833,712 (GRCm39) |
|
probably benign |
Het |
Wdhd1 |
A |
C |
14: 47,489,427 (GRCm39) |
L702* |
probably null |
Het |
Zc3h12a |
T |
C |
4: 125,020,558 (GRCm39) |
E95G |
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 |
|
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 |
|
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'- AGCATTGGATCTAGCAACCCTTG -3'
(R):5'- AAGTGCTTTGACAGTTCCTAAGTG -3'
Sequencing Primer
(F):5'- CTCCCGAGTGCTGGGATTAAAG -3'
(R):5'- GTTCCTAAGTGAAATACAGGGGTTC -3'
|
Posted On |
2022-05-16 |