Incidental Mutation 'R6010:Med1'
| ID |
479719 |
| 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 |
044187-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6010 (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 C
at 98049188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 536
(V536G)
|
| 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: V521G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: V521G
| 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 damaging
Transcript: ENSMUST00000092735
AA Change: V536G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160
AA Change: V536G
| 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: V536G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: V536G
| 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
|
| Meta Mutation Damage Score |
0.3435 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
100% (65/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
A |
G |
4: 56,743,870 (GRCm39) |
I132M |
possibly damaging |
Het |
| Agap2 |
A |
T |
10: 126,926,779 (GRCm39) |
I939F |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,623,378 (GRCm39) |
V80A |
possibly damaging |
Het |
| Atxn3 |
T |
C |
12: 101,914,285 (GRCm39) |
D67G |
probably damaging |
Het |
| Avl9 |
G |
A |
6: 56,730,375 (GRCm39) |
V573M |
possibly damaging |
Het |
| Baz1b |
G |
A |
5: 135,246,305 (GRCm39) |
E585K |
possibly damaging |
Het |
| Brms1l |
T |
C |
12: 55,914,985 (GRCm39) |
F298S |
possibly damaging |
Het |
| Camk2d |
G |
A |
3: 126,591,363 (GRCm39) |
V278I |
possibly damaging |
Het |
| Car10 |
A |
G |
11: 93,490,149 (GRCm39) |
I297V |
possibly damaging |
Het |
| Cfap65 |
C |
T |
1: 74,962,190 (GRCm39) |
C677Y |
probably damaging |
Het |
| Cfap74 |
T |
A |
4: 155,538,495 (GRCm39) |
D872E |
possibly damaging |
Het |
| Cgrrf1 |
A |
C |
14: 47,091,158 (GRCm39) |
Q227H |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,121,711 (GRCm39) |
I46T |
probably damaging |
Het |
| Chpf2 |
A |
T |
5: 24,796,917 (GRCm39) |
H621L |
probably damaging |
Het |
| Cluap1 |
C |
T |
16: 3,755,437 (GRCm39) |
R351W |
possibly damaging |
Het |
| Cnot6 |
A |
T |
11: 49,574,066 (GRCm39) |
Y201* |
probably null |
Het |
| Col15a1 |
T |
C |
4: 47,245,630 (GRCm39) |
V127A |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,701,219 (GRCm39) |
V2566I |
unknown |
Het |
| Cope |
T |
A |
8: 70,761,162 (GRCm39) |
M88K |
probably damaging |
Het |
| Cops4 |
A |
G |
5: 100,691,776 (GRCm39) |
I358M |
possibly damaging |
Het |
| Coro7 |
T |
C |
16: 4,487,820 (GRCm39) |
E130G |
possibly damaging |
Het |
| Csrp3 |
A |
G |
7: 48,485,213 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,701,160 (GRCm39) |
F217L |
probably damaging |
Het |
| Dmac1 |
A |
G |
4: 75,196,473 (GRCm39) |
S6P |
unknown |
Het |
| Drd4 |
A |
T |
7: 140,874,709 (GRCm39) |
I367F |
probably damaging |
Het |
| Efcc1 |
T |
A |
6: 87,730,711 (GRCm39) |
|
probably null |
Het |
| Emid1 |
A |
T |
11: 5,085,389 (GRCm39) |
M119K |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,202,596 (GRCm39) |
D1237N |
probably benign |
Het |
| Fbxl18 |
C |
A |
5: 142,858,153 (GRCm39) |
R761L |
probably damaging |
Het |
| Gbp10 |
A |
C |
5: 105,372,205 (GRCm39) |
L185R |
probably damaging |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Gucd1 |
G |
T |
10: 75,256,600 (GRCm39) |
|
probably benign |
Het |
| Helb |
G |
A |
10: 119,941,788 (GRCm39) |
T300M |
probably damaging |
Het |
| Ifna11 |
A |
T |
4: 88,738,278 (GRCm39) |
H28L |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,830,950 (GRCm39) |
N723I |
probably benign |
Het |
| Kcnb2 |
C |
T |
1: 15,780,790 (GRCm39) |
S554F |
possibly damaging |
Het |
| Nanog |
A |
C |
6: 122,690,255 (GRCm39) |
N195T |
probably benign |
Het |
| Neu1 |
C |
T |
17: 35,151,031 (GRCm39) |
S94F |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,740,071 (GRCm39) |
S154R |
probably damaging |
Het |
| Npl |
A |
T |
1: 153,388,314 (GRCm39) |
L239* |
probably null |
Het |
| Nrg1 |
G |
A |
8: 32,308,600 (GRCm39) |
T483M |
probably damaging |
Het |
| Nup98 |
G |
T |
7: 101,829,636 (GRCm39) |
F391L |
probably damaging |
Het |
| Or4c122 |
A |
T |
2: 89,079,087 (GRCm39) |
I305K |
probably benign |
Het |
| Or5ar1 |
T |
C |
2: 85,671,905 (GRCm39) |
I77V |
probably benign |
Het |
| Or5d47 |
A |
T |
2: 87,804,886 (GRCm39) |
V41E |
probably damaging |
Het |
| Or5g26 |
T |
C |
2: 85,494,374 (GRCm39) |
I135V |
probably benign |
Het |
| Pacsin2 |
A |
G |
15: 83,266,020 (GRCm39) |
V59A |
possibly damaging |
Het |
| Pcsk9 |
C |
T |
4: 106,311,469 (GRCm39) |
R254H |
possibly damaging |
Het |
| Pierce2 |
A |
T |
9: 72,887,488 (GRCm39) |
|
probably null |
Het |
| Psme2 |
C |
A |
14: 55,824,980 (GRCm39) |
|
probably null |
Het |
| Ptprc |
T |
A |
1: 138,028,794 (GRCm39) |
H468L |
probably benign |
Het |
| Rbp3 |
T |
A |
14: 33,676,604 (GRCm39) |
I184N |
probably damaging |
Het |
| Serpinb1c |
A |
G |
13: 33,066,042 (GRCm39) |
L301P |
probably damaging |
Het |
| Smim6 |
G |
T |
11: 115,804,219 (GRCm39) |
G2V |
probably damaging |
Het |
| Snrpb2 |
A |
G |
2: 142,912,815 (GRCm39) |
D146G |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,115,832 (GRCm39) |
S954C |
possibly damaging |
Het |
| Telo2 |
G |
T |
17: 25,323,852 (GRCm39) |
T568N |
possibly damaging |
Het |
| Tpp2 |
T |
C |
1: 43,990,373 (GRCm39) |
|
probably null |
Het |
| Upf1 |
A |
G |
8: 70,789,675 (GRCm39) |
V720A |
probably damaging |
Het |
| Vmn1r81 |
T |
C |
7: 11,994,349 (GRCm39) |
I86M |
possibly damaging |
Het |
| Vps8 |
T |
A |
16: 21,363,955 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
T |
C |
15: 7,916,900 (GRCm39) |
|
probably null |
Het |
| Zfp385c |
A |
T |
11: 100,548,363 (GRCm39) |
S30T |
probably benign |
Het |
| Zfp607a |
T |
A |
7: 27,577,254 (GRCm39) |
L108* |
probably null |
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 |
|
|
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'- TTGCTGAAGTCCTCCCCATG -3'
(R):5'- TTCTGAGGCTTATGTAAATCACAGGC -3'
Sequencing Primer
(F):5'- ATGGCCCACCGACTCATG -3'
(R):5'- GTAGAGCCTTTTGTTCCAAATGATG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation