Incidental Mutation 'R1851:Med23'
ID |
208101 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Med23
|
Ensembl Gene |
ENSMUSG00000019984 |
Gene Name |
mediator complex subunit 23 |
Synonyms |
X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2 |
MMRRC Submission |
039875-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1851 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
24869986-24913681 bp(+) (GRCm38) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 24910870 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000020161]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000177232]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000020159
|
SMART Domains |
Protein: ENSMUSP00000020159 Gene: ENSMUSG00000019984
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000020161
|
SMART Domains |
Protein: ENSMUSP00000020161 Gene: ENSMUSG00000019987
Domain | Start | End | E-Value | Type |
Pfam:Arginase
|
6 |
305 |
1.4e-79 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000092646
|
SMART Domains |
Protein: ENSMUSP00000090316 Gene: ENSMUSG00000019984
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176285
|
SMART Domains |
Protein: ENSMUSP00000135232 Gene: ENSMUSG00000019984
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
1 |
51 |
4.4e-14 |
PFAM |
Pfam:Med23
|
48 |
950 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177232
|
SMART Domains |
Protein: ENSMUSP00000134866 Gene: ENSMUSG00000019984
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
3 |
58 |
1.2e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184228
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218260
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.3%
|
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. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012] PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis with disorganization of the vasculature and peripheral nervous system. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 95 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730507C01Rik |
A |
G |
12: 18,533,686 (GRCm38) |
E225G |
possibly damaging |
Het |
Abcb7 |
T |
C |
X: 104,305,399 (GRCm38) |
M153V |
probably benign |
Het |
Abi1 |
A |
T |
2: 22,950,264 (GRCm38) |
V329D |
possibly damaging |
Het |
Ablim3 |
G |
A |
18: 61,849,395 (GRCm38) |
H160Y |
probably benign |
Het |
Acox3 |
A |
T |
5: 35,609,062 (GRCm38) |
D624V |
possibly damaging |
Het |
Adam6b |
A |
G |
12: 113,491,822 (GRCm38) |
D753G |
probably benign |
Het |
Ago1 |
C |
A |
4: 126,439,995 (GRCm38) |
R771L |
probably benign |
Het |
Aktip |
A |
G |
8: 91,125,877 (GRCm38) |
V217A |
possibly damaging |
Het |
Ankk1 |
A |
C |
9: 49,415,850 (GRCm38) |
H676Q |
probably benign |
Het |
Arl1 |
G |
C |
10: 88,733,546 (GRCm38) |
|
probably benign |
Het |
Asxl3 |
T |
A |
18: 22,517,739 (GRCm38) |
D928E |
probably damaging |
Het |
AW209491 |
T |
C |
13: 14,636,733 (GRCm38) |
V57A |
possibly damaging |
Het |
B3galt4 |
G |
T |
17: 33,950,911 (GRCm38) |
Q118K |
probably benign |
Het |
Ccdc187 |
A |
T |
2: 26,276,068 (GRCm38) |
M783K |
probably benign |
Het |
Cdon |
T |
G |
9: 35,483,158 (GRCm38) |
M900R |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,714,910 (GRCm38) |
W67* |
probably null |
Het |
Chd5 |
A |
G |
4: 152,378,270 (GRCm38) |
S1356G |
probably damaging |
Het |
Chil3 |
C |
T |
3: 106,148,801 (GRCm38) |
|
probably null |
Het |
Chmp7 |
C |
T |
14: 69,719,450 (GRCm38) |
M336I |
probably benign |
Het |
Cntn1 |
C |
T |
15: 92,305,140 (GRCm38) |
R768C |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,807,534 (GRCm38) |
I798F |
possibly damaging |
Het |
Cpxcr1 |
T |
A |
X: 116,478,061 (GRCm38) |
L223* |
probably null |
Het |
Cpz |
C |
A |
5: 35,502,558 (GRCm38) |
R581L |
possibly damaging |
Het |
Cxcr2 |
A |
G |
1: 74,159,279 (GRCm38) |
I311V |
probably benign |
Het |
Cym |
T |
A |
3: 107,218,714 (GRCm38) |
I78F |
probably benign |
Het |
Defb8 |
A |
T |
8: 19,445,883 (GRCm38) |
S54T |
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,862,030 (GRCm38) |
T433A |
probably damaging |
Het |
Dhx29 |
A |
G |
13: 112,948,281 (GRCm38) |
T678A |
probably damaging |
Het |
Dspp |
T |
C |
5: 104,174,085 (GRCm38) |
|
probably null |
Het |
Enkur |
G |
T |
2: 21,189,177 (GRCm38) |
A195E |
probably benign |
Het |
Ero1lb |
T |
A |
13: 12,604,403 (GRCm38) |
S429T |
possibly damaging |
Het |
Fh1 |
A |
G |
1: 175,607,886 (GRCm38) |
S344P |
probably damaging |
Het |
Flnc |
G |
T |
6: 29,443,479 (GRCm38) |
G553V |
probably damaging |
Het |
Fmo1 |
A |
T |
1: 162,829,985 (GRCm38) |
L529* |
probably null |
Het |
Frem1 |
C |
A |
4: 82,950,500 (GRCm38) |
V1415F |
probably damaging |
Het |
Gatb |
T |
G |
3: 85,618,877 (GRCm38) |
L354R |
probably damaging |
Het |
Gdpgp1 |
A |
T |
7: 80,238,601 (GRCm38) |
N127Y |
probably damaging |
Het |
Gm11492 |
T |
A |
11: 87,568,915 (GRCm38) |
D496E |
probably damaging |
Het |
Gm13084 |
T |
C |
4: 143,812,826 (GRCm38) |
I32M |
probably benign |
Het |
Gm13212 |
T |
G |
4: 145,624,250 (GRCm38) |
|
probably benign |
Het |
Gpat2 |
A |
G |
2: 127,434,819 (GRCm38) |
T648A |
possibly damaging |
Het |
Grk6 |
C |
T |
13: 55,451,778 (GRCm38) |
R225* |
probably null |
Het |
Hells |
A |
T |
19: 38,959,676 (GRCm38) |
Q682L |
probably null |
Het |
Hspa5 |
T |
A |
2: 34,774,678 (GRCm38) |
N381K |
possibly damaging |
Het |
Ighmbp2 |
T |
C |
19: 3,262,075 (GRCm38) |
N893S |
probably benign |
Het |
Ipo11 |
A |
T |
13: 106,812,257 (GRCm38) |
V914E |
possibly damaging |
Het |
Lars |
T |
C |
18: 42,212,608 (GRCm38) |
N1001S |
probably benign |
Het |
Lats2 |
A |
G |
14: 57,697,455 (GRCm38) |
L606P |
probably damaging |
Het |
Map4k1 |
T |
C |
7: 28,999,784 (GRCm38) |
Y521H |
probably benign |
Het |
March11 |
T |
A |
15: 26,387,830 (GRCm38) |
V257E |
probably damaging |
Het |
Meltf |
A |
G |
16: 31,896,577 (GRCm38) |
D696G |
probably benign |
Het |
Ms4a7 |
T |
A |
19: 11,324,424 (GRCm38) |
M212L |
probably benign |
Het |
Mx1 |
A |
T |
16: 97,448,203 (GRCm38) |
L608Q |
probably damaging |
Het |
Myh1 |
T |
C |
11: 67,204,398 (GRCm38) |
Y195H |
probably damaging |
Het |
Napb |
G |
T |
2: 148,706,989 (GRCm38) |
H110Q |
probably benign |
Het |
Ngly1 |
C |
T |
14: 16,260,585 (GRCm38) |
P90S |
probably damaging |
Het |
Nlrp1b |
T |
A |
11: 71,182,616 (GRCm38) |
I134L |
possibly damaging |
Het |
Nup210 |
A |
G |
6: 91,016,054 (GRCm38) |
L1017P |
probably damaging |
Het |
Nup85 |
T |
A |
11: 115,581,817 (GRCm38) |
I233N |
probably damaging |
Het |
Obsl1 |
A |
G |
1: 75,492,893 (GRCm38) |
V965A |
probably damaging |
Het |
Olfr1259 |
A |
C |
2: 89,943,814 (GRCm38) |
Y100* |
probably null |
Het |
Olfr1310 |
T |
C |
2: 112,008,691 (GRCm38) |
D165G |
probably benign |
Het |
Olfr787 |
T |
C |
10: 129,463,501 (GRCm38) |
L275P |
probably damaging |
Het |
Pak1ip1 |
A |
G |
13: 41,011,232 (GRCm38) |
T264A |
possibly damaging |
Het |
Pard6g |
C |
T |
18: 80,117,142 (GRCm38) |
R157C |
probably damaging |
Het |
Pcdhb7 |
A |
T |
18: 37,342,578 (GRCm38) |
T256S |
possibly damaging |
Het |
Phrf1 |
T |
C |
7: 141,240,918 (GRCm38) |
F153L |
probably damaging |
Het |
Pigw |
A |
T |
11: 84,878,048 (GRCm38) |
F152I |
probably damaging |
Het |
Pip4k2c |
A |
G |
10: 127,200,875 (GRCm38) |
S222P |
probably damaging |
Het |
Pjvk |
A |
G |
2: 76,657,431 (GRCm38) |
|
probably null |
Het |
Plxnd1 |
C |
T |
6: 115,963,914 (GRCm38) |
V1355M |
probably damaging |
Het |
Prss22 |
G |
A |
17: 23,996,314 (GRCm38) |
P163S |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,199,139 (GRCm38) |
I154V |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,642,811 (GRCm38) |
D362E |
probably benign |
Het |
Retreg2 |
A |
G |
1: 75,146,675 (GRCm38) |
K416E |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,680,291 (GRCm38) |
I1256V |
probably benign |
Het |
Sema4d |
A |
G |
13: 51,711,222 (GRCm38) |
V362A |
possibly damaging |
Het |
Slc25a34 |
G |
A |
4: 141,622,268 (GRCm38) |
T192I |
probably benign |
Het |
Tacc3 |
G |
T |
5: 33,668,200 (GRCm38) |
V425L |
probably benign |
Het |
Tfdp2 |
A |
T |
9: 96,297,709 (GRCm38) |
K125I |
probably damaging |
Het |
Tjp2 |
C |
T |
19: 24,099,535 (GRCm38) |
R952Q |
possibly damaging |
Het |
Tk2 |
G |
T |
8: 104,248,445 (GRCm38) |
S30* |
probably null |
Het |
Tmem74 |
A |
T |
15: 43,867,163 (GRCm38) |
D161E |
probably benign |
Het |
Tmprss9 |
G |
A |
10: 80,892,285 (GRCm38) |
V570M |
probably damaging |
Het |
Tnk2 |
C |
A |
16: 32,679,462 (GRCm38) |
P26Q |
probably damaging |
Het |
Tnpo2 |
T |
G |
8: 85,051,772 (GRCm38) |
V610G |
probably damaging |
Het |
Trim37 |
T |
C |
11: 87,218,306 (GRCm38) |
F953S |
probably damaging |
Het |
U2surp |
T |
A |
9: 95,482,097 (GRCm38) |
K589* |
probably null |
Het |
Usp2 |
G |
A |
9: 44,075,966 (GRCm38) |
R187H |
probably benign |
Het |
Vmn2r1 |
C |
T |
3: 64,101,505 (GRCm38) |
T535I |
probably benign |
Het |
Wdr20rt |
T |
A |
12: 65,227,151 (GRCm38) |
S463T |
possibly damaging |
Het |
Zbtb25 |
C |
A |
12: 76,349,714 (GRCm38) |
G245W |
probably damaging |
Het |
Zc3h14 |
T |
A |
12: 98,760,354 (GRCm38) |
L27* |
probably null |
Het |
Zfp2 |
T |
C |
11: 50,901,088 (GRCm38) |
K43E |
probably benign |
Het |
Zfp654 |
A |
G |
16: 64,785,128 (GRCm38) |
Y904H |
probably benign |
Het |
|
Other mutations in Med23 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00670:Med23
|
APN |
10 |
24,888,584 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL00792:Med23
|
APN |
10 |
24,877,004 (GRCm38) |
missense |
possibly damaging |
0.93 |
IGL01289:Med23
|
APN |
10 |
24,902,121 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01469:Med23
|
APN |
10 |
24,882,597 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01598:Med23
|
APN |
10 |
24,903,798 (GRCm38) |
missense |
probably benign |
0.34 |
IGL02324:Med23
|
APN |
10 |
24,897,341 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL02381:Med23
|
APN |
10 |
24,900,728 (GRCm38) |
missense |
possibly damaging |
0.95 |
IGL02465:Med23
|
APN |
10 |
24,903,743 (GRCm38) |
missense |
probably damaging |
0.96 |
IGL02554:Med23
|
APN |
10 |
24,898,575 (GRCm38) |
critical splice donor site |
probably null |
|
IGL02683:Med23
|
APN |
10 |
24,870,717 (GRCm38) |
missense |
probably benign |
0.00 |
PIT4362001:Med23
|
UTSW |
10 |
24,874,571 (GRCm38) |
missense |
probably benign |
0.01 |
R0080:Med23
|
UTSW |
10 |
24,912,817 (GRCm38) |
missense |
probably benign |
0.33 |
R0125:Med23
|
UTSW |
10 |
24,900,788 (GRCm38) |
missense |
probably damaging |
1.00 |
R0311:Med23
|
UTSW |
10 |
24,897,358 (GRCm38) |
missense |
possibly damaging |
0.95 |
R0765:Med23
|
UTSW |
10 |
24,900,710 (GRCm38) |
missense |
probably damaging |
1.00 |
R1302:Med23
|
UTSW |
10 |
24,888,422 (GRCm38) |
splice site |
probably null |
|
R1456:Med23
|
UTSW |
10 |
24,903,652 (GRCm38) |
splice site |
probably benign |
|
R1514:Med23
|
UTSW |
10 |
24,892,667 (GRCm38) |
splice site |
probably benign |
|
R1774:Med23
|
UTSW |
10 |
24,903,686 (GRCm38) |
missense |
probably damaging |
1.00 |
R1928:Med23
|
UTSW |
10 |
24,909,812 (GRCm38) |
missense |
probably benign |
|
R1975:Med23
|
UTSW |
10 |
24,910,766 (GRCm38) |
missense |
probably benign |
0.01 |
R2011:Med23
|
UTSW |
10 |
24,879,755 (GRCm38) |
missense |
possibly damaging |
0.63 |
R2266:Med23
|
UTSW |
10 |
24,874,601 (GRCm38) |
missense |
probably benign |
0.00 |
R2309:Med23
|
UTSW |
10 |
24,870,688 (GRCm38) |
missense |
probably damaging |
0.99 |
R2507:Med23
|
UTSW |
10 |
24,910,813 (GRCm38) |
missense |
probably damaging |
1.00 |
R2566:Med23
|
UTSW |
10 |
24,888,575 (GRCm38) |
missense |
probably damaging |
1.00 |
R3720:Med23
|
UTSW |
10 |
24,891,120 (GRCm38) |
missense |
probably damaging |
1.00 |
R3771:Med23
|
UTSW |
10 |
24,902,201 (GRCm38) |
missense |
probably damaging |
1.00 |
R3811:Med23
|
UTSW |
10 |
24,892,593 (GRCm38) |
splice site |
probably null |
|
R3811:Med23
|
UTSW |
10 |
24,892,592 (GRCm38) |
nonsense |
probably null |
|
R4305:Med23
|
UTSW |
10 |
24,904,270 (GRCm38) |
nonsense |
probably null |
|
R4323:Med23
|
UTSW |
10 |
24,870,705 (GRCm38) |
missense |
probably benign |
0.02 |
R4701:Med23
|
UTSW |
10 |
24,893,648 (GRCm38) |
missense |
probably damaging |
1.00 |
R4886:Med23
|
UTSW |
10 |
24,874,683 (GRCm38) |
critical splice donor site |
probably null |
|
R4925:Med23
|
UTSW |
10 |
24,910,747 (GRCm38) |
missense |
probably damaging |
1.00 |
R4943:Med23
|
UTSW |
10 |
24,875,669 (GRCm38) |
missense |
possibly damaging |
0.92 |
R5207:Med23
|
UTSW |
10 |
24,895,836 (GRCm38) |
nonsense |
probably null |
|
R5749:Med23
|
UTSW |
10 |
24,888,449 (GRCm38) |
missense |
possibly damaging |
0.84 |
R5806:Med23
|
UTSW |
10 |
24,907,221 (GRCm38) |
missense |
probably damaging |
1.00 |
R5896:Med23
|
UTSW |
10 |
24,902,145 (GRCm38) |
missense |
probably damaging |
1.00 |
R5954:Med23
|
UTSW |
10 |
24,870,483 (GRCm38) |
splice site |
probably benign |
|
R6031:Med23
|
UTSW |
10 |
24,903,748 (GRCm38) |
nonsense |
probably null |
|
R6031:Med23
|
UTSW |
10 |
24,903,748 (GRCm38) |
nonsense |
probably null |
|
R6093:Med23
|
UTSW |
10 |
24,878,443 (GRCm38) |
missense |
probably benign |
0.16 |
R6107:Med23
|
UTSW |
10 |
24,906,034 (GRCm38) |
nonsense |
probably null |
|
R6356:Med23
|
UTSW |
10 |
24,888,413 (GRCm38) |
missense |
probably damaging |
0.98 |
R6393:Med23
|
UTSW |
10 |
24,873,476 (GRCm38) |
missense |
possibly damaging |
0.91 |
R6533:Med23
|
UTSW |
10 |
24,893,620 (GRCm38) |
missense |
probably damaging |
1.00 |
R6911:Med23
|
UTSW |
10 |
24,902,181 (GRCm38) |
missense |
probably damaging |
0.98 |
R6981:Med23
|
UTSW |
10 |
24,895,824 (GRCm38) |
missense |
possibly damaging |
0.92 |
R7085:Med23
|
UTSW |
10 |
24,870,121 (GRCm38) |
missense |
probably damaging |
1.00 |
R7215:Med23
|
UTSW |
10 |
24,888,429 (GRCm38) |
missense |
probably benign |
|
R7229:Med23
|
UTSW |
10 |
24,902,004 (GRCm38) |
missense |
probably benign |
|
R7489:Med23
|
UTSW |
10 |
24,904,356 (GRCm38) |
missense |
probably damaging |
1.00 |
R7530:Med23
|
UTSW |
10 |
24,905,953 (GRCm38) |
missense |
probably benign |
0.00 |
R7643:Med23
|
UTSW |
10 |
24,905,965 (GRCm38) |
missense |
probably benign |
0.01 |
R7653:Med23
|
UTSW |
10 |
24,904,384 (GRCm38) |
missense |
probably damaging |
1.00 |
R7764:Med23
|
UTSW |
10 |
24,909,920 (GRCm38) |
critical splice donor site |
probably null |
|
R7784:Med23
|
UTSW |
10 |
24,902,448 (GRCm38) |
missense |
probably damaging |
1.00 |
R8024:Med23
|
UTSW |
10 |
24,879,683 (GRCm38) |
missense |
possibly damaging |
0.74 |
R8182:Med23
|
UTSW |
10 |
24,912,807 (GRCm38) |
missense |
probably benign |
|
R8412:Med23
|
UTSW |
10 |
24,908,734 (GRCm38) |
missense |
probably benign |
0.01 |
R8874:Med23
|
UTSW |
10 |
24,895,719 (GRCm38) |
missense |
possibly damaging |
0.92 |
R8975:Med23
|
UTSW |
10 |
24,904,436 (GRCm38) |
missense |
probably benign |
0.42 |
R9131:Med23
|
UTSW |
10 |
24,904,381 (GRCm38) |
missense |
|
|
R9202:Med23
|
UTSW |
10 |
24,904,304 (GRCm38) |
missense |
probably benign |
0.12 |
R9341:Med23
|
UTSW |
10 |
24,912,807 (GRCm38) |
missense |
probably benign |
|
R9342:Med23
|
UTSW |
10 |
24,874,571 (GRCm38) |
missense |
probably benign |
0.01 |
R9343:Med23
|
UTSW |
10 |
24,912,807 (GRCm38) |
missense |
probably benign |
|
R9412:Med23
|
UTSW |
10 |
24,902,121 (GRCm38) |
missense |
probably damaging |
1.00 |
RF003:Med23
|
UTSW |
10 |
24,903,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGTCCCTCTGCACAAGTG -3'
(R):5'- ACAGGGAAAGCTAAGAGATCGTTTC -3'
Sequencing Primer
(F):5'- AAGTGCCATCCCGTGTCAGTG -3'
(R):5'- GCTAAGAGATCGTTTCTTTATCACTG -3'
|
Posted On |
2014-06-23 |