Incidental Mutation 'R1851:Med23'
ID |
208101 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Med23
|
Ensembl Gene |
ENSMUSG00000019984 |
Gene Name |
mediator complex subunit 23 |
Synonyms |
ESTM7, 3000002A17Rik, X83317, Sur2, Crsp3, sno |
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 |
24745889-24789358 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 24786768 bp (GRCm39)
|
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: 18,583,687 (GRCm39) |
E225G |
possibly damaging |
Het |
Abcb7 |
T |
C |
X: 103,349,005 (GRCm39) |
M153V |
probably benign |
Het |
Abi1 |
A |
T |
2: 22,840,276 (GRCm39) |
V329D |
possibly damaging |
Het |
Ablim3 |
G |
A |
18: 61,982,466 (GRCm39) |
H160Y |
probably benign |
Het |
Acox3 |
A |
T |
5: 35,766,406 (GRCm39) |
D624V |
possibly damaging |
Het |
Adam6b |
A |
G |
12: 113,455,442 (GRCm39) |
D753G |
probably benign |
Het |
Ago1 |
C |
A |
4: 126,333,788 (GRCm39) |
R771L |
probably benign |
Het |
Aktip |
A |
G |
8: 91,852,505 (GRCm39) |
V217A |
possibly damaging |
Het |
Ankk1 |
A |
C |
9: 49,327,150 (GRCm39) |
H676Q |
probably benign |
Het |
Arl1 |
G |
C |
10: 88,569,408 (GRCm39) |
|
probably benign |
Het |
Asxl3 |
T |
A |
18: 22,650,796 (GRCm39) |
D928E |
probably damaging |
Het |
AW209491 |
T |
C |
13: 14,811,318 (GRCm39) |
V57A |
possibly damaging |
Het |
B3galt4 |
G |
T |
17: 34,169,885 (GRCm39) |
Q118K |
probably benign |
Het |
Ccdc187 |
A |
T |
2: 26,166,080 (GRCm39) |
M783K |
probably benign |
Het |
Cdon |
T |
G |
9: 35,394,454 (GRCm39) |
M900R |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,448,835 (GRCm39) |
W67* |
probably null |
Het |
Chd5 |
A |
G |
4: 152,462,727 (GRCm39) |
S1356G |
probably damaging |
Het |
Chil3 |
C |
T |
3: 106,056,117 (GRCm39) |
|
probably null |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Cntn1 |
C |
T |
15: 92,203,021 (GRCm39) |
R768C |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,735,256 (GRCm39) |
I798F |
possibly damaging |
Het |
Cpxcr1 |
T |
A |
X: 115,387,758 (GRCm39) |
L223* |
probably null |
Het |
Cpz |
C |
A |
5: 35,659,902 (GRCm39) |
R581L |
possibly damaging |
Het |
Cxcr2 |
A |
G |
1: 74,198,438 (GRCm39) |
I311V |
probably benign |
Het |
Cym |
T |
A |
3: 107,126,030 (GRCm39) |
I78F |
probably benign |
Het |
Defb8 |
A |
T |
8: 19,495,899 (GRCm39) |
S54T |
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,769,312 (GRCm39) |
T433A |
probably damaging |
Het |
Dhx29 |
A |
G |
13: 113,084,815 (GRCm39) |
T678A |
probably damaging |
Het |
Dspp |
T |
C |
5: 104,321,951 (GRCm39) |
|
probably null |
Het |
Enkur |
G |
T |
2: 21,193,988 (GRCm39) |
A195E |
probably benign |
Het |
Ero1b |
T |
A |
13: 12,619,292 (GRCm39) |
S429T |
possibly damaging |
Het |
Fh1 |
A |
G |
1: 175,435,452 (GRCm39) |
S344P |
probably damaging |
Het |
Flnc |
G |
T |
6: 29,443,478 (GRCm39) |
G553V |
probably damaging |
Het |
Fmo1 |
A |
T |
1: 162,657,554 (GRCm39) |
L529* |
probably null |
Het |
Frem1 |
C |
A |
4: 82,868,737 (GRCm39) |
V1415F |
probably damaging |
Het |
Gatb |
T |
G |
3: 85,526,184 (GRCm39) |
L354R |
probably damaging |
Het |
Gdpgp1 |
A |
T |
7: 79,888,349 (GRCm39) |
N127Y |
probably damaging |
Het |
Gpat2 |
A |
G |
2: 127,276,739 (GRCm39) |
T648A |
possibly damaging |
Het |
Grk6 |
C |
T |
13: 55,599,591 (GRCm39) |
R225* |
probably null |
Het |
Hells |
A |
T |
19: 38,948,120 (GRCm39) |
Q682L |
probably null |
Het |
Hspa5 |
T |
A |
2: 34,664,690 (GRCm39) |
N381K |
possibly damaging |
Het |
Ighmbp2 |
T |
C |
19: 3,312,075 (GRCm39) |
N893S |
probably benign |
Het |
Ipo11 |
A |
T |
13: 106,948,765 (GRCm39) |
V914E |
possibly damaging |
Het |
Lars1 |
T |
C |
18: 42,345,673 (GRCm39) |
N1001S |
probably benign |
Het |
Lats2 |
A |
G |
14: 57,934,912 (GRCm39) |
L606P |
probably damaging |
Het |
Map4k1 |
T |
C |
7: 28,699,209 (GRCm39) |
Y521H |
probably benign |
Het |
Marchf11 |
T |
A |
15: 26,387,916 (GRCm39) |
V257E |
probably damaging |
Het |
Meltf |
A |
G |
16: 31,715,395 (GRCm39) |
D696G |
probably benign |
Het |
Ms4a7 |
T |
A |
19: 11,301,788 (GRCm39) |
M212L |
probably benign |
Het |
Mx1 |
A |
T |
16: 97,249,403 (GRCm39) |
L608Q |
probably damaging |
Het |
Myh1 |
T |
C |
11: 67,095,224 (GRCm39) |
Y195H |
probably damaging |
Het |
Napb |
G |
T |
2: 148,548,909 (GRCm39) |
H110Q |
probably benign |
Het |
Ngly1 |
C |
T |
14: 16,260,585 (GRCm38) |
P90S |
probably damaging |
Het |
Nlrp1b |
T |
A |
11: 71,073,442 (GRCm39) |
I134L |
possibly damaging |
Het |
Nup210 |
A |
G |
6: 90,993,036 (GRCm39) |
L1017P |
probably damaging |
Het |
Nup85 |
T |
A |
11: 115,472,643 (GRCm39) |
I233N |
probably damaging |
Het |
Obsl1 |
A |
G |
1: 75,469,537 (GRCm39) |
V965A |
probably damaging |
Het |
Or4c12 |
A |
C |
2: 89,774,158 (GRCm39) |
Y100* |
probably null |
Het |
Or4f6 |
T |
C |
2: 111,839,036 (GRCm39) |
D165G |
probably benign |
Het |
Or6c5c |
T |
C |
10: 129,299,370 (GRCm39) |
L275P |
probably damaging |
Het |
Pak1ip1 |
A |
G |
13: 41,164,708 (GRCm39) |
T264A |
possibly damaging |
Het |
Pard6g |
C |
T |
18: 80,160,357 (GRCm39) |
R157C |
probably damaging |
Het |
Pcdhb7 |
A |
T |
18: 37,475,631 (GRCm39) |
T256S |
possibly damaging |
Het |
Phrf1 |
T |
C |
7: 140,820,831 (GRCm39) |
F153L |
probably damaging |
Het |
Pigw |
A |
T |
11: 84,768,874 (GRCm39) |
F152I |
probably damaging |
Het |
Pip4k2c |
A |
G |
10: 127,036,744 (GRCm39) |
S222P |
probably damaging |
Het |
Pjvk |
A |
G |
2: 76,487,775 (GRCm39) |
|
probably null |
Het |
Plxnd1 |
C |
T |
6: 115,940,875 (GRCm39) |
V1355M |
probably damaging |
Het |
Pramel26 |
T |
C |
4: 143,539,396 (GRCm39) |
I32M |
probably benign |
Het |
Prss22 |
G |
A |
17: 24,215,288 (GRCm39) |
P163S |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,176,503 (GRCm39) |
I154V |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,533,637 (GRCm39) |
D362E |
probably benign |
Het |
Retreg2 |
A |
G |
1: 75,123,319 (GRCm39) |
K416E |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,510,635 (GRCm39) |
I1256V |
probably benign |
Het |
Sema4d |
A |
G |
13: 51,865,258 (GRCm39) |
V362A |
possibly damaging |
Het |
Septin4 |
T |
A |
11: 87,459,741 (GRCm39) |
D496E |
probably damaging |
Het |
Slc25a34 |
G |
A |
4: 141,349,579 (GRCm39) |
T192I |
probably benign |
Het |
Tacc3 |
G |
T |
5: 33,825,544 (GRCm39) |
V425L |
probably benign |
Het |
Tfdp2 |
A |
T |
9: 96,179,762 (GRCm39) |
K125I |
probably damaging |
Het |
Tjp2 |
C |
T |
19: 24,076,899 (GRCm39) |
R952Q |
possibly damaging |
Het |
Tk2 |
G |
T |
8: 104,975,077 (GRCm39) |
S30* |
probably null |
Het |
Tmem74 |
A |
T |
15: 43,730,559 (GRCm39) |
D161E |
probably benign |
Het |
Tmprss9 |
G |
A |
10: 80,728,119 (GRCm39) |
V570M |
probably damaging |
Het |
Tnk2 |
C |
A |
16: 32,498,280 (GRCm39) |
P26Q |
probably damaging |
Het |
Tnpo2 |
T |
G |
8: 85,778,401 (GRCm39) |
V610G |
probably damaging |
Het |
Trim37 |
T |
C |
11: 87,109,132 (GRCm39) |
F953S |
probably damaging |
Het |
U2surp |
T |
A |
9: 95,364,150 (GRCm39) |
K589* |
probably null |
Het |
Usp2 |
G |
A |
9: 43,987,263 (GRCm39) |
R187H |
probably benign |
Het |
Vmn2r1 |
C |
T |
3: 64,008,926 (GRCm39) |
T535I |
probably benign |
Het |
Wdr20rt |
T |
A |
12: 65,273,925 (GRCm39) |
S463T |
possibly damaging |
Het |
Zbtb25 |
C |
A |
12: 76,396,488 (GRCm39) |
G245W |
probably damaging |
Het |
Zc3h14 |
T |
A |
12: 98,726,613 (GRCm39) |
L27* |
probably null |
Het |
Zfp2 |
T |
C |
11: 50,791,915 (GRCm39) |
K43E |
probably benign |
Het |
Zfp268 |
T |
G |
4: 145,350,820 (GRCm39) |
|
probably benign |
Het |
Zfp654 |
A |
G |
16: 64,605,491 (GRCm39) |
Y904H |
probably benign |
Het |
|
Other mutations in Med23 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00670:Med23
|
APN |
10 |
24,764,482 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00792:Med23
|
APN |
10 |
24,752,902 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01289:Med23
|
APN |
10 |
24,778,019 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01469:Med23
|
APN |
10 |
24,758,495 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01598:Med23
|
APN |
10 |
24,779,696 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02324:Med23
|
APN |
10 |
24,773,239 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02381:Med23
|
APN |
10 |
24,776,626 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02465:Med23
|
APN |
10 |
24,779,641 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02554:Med23
|
APN |
10 |
24,774,473 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02683:Med23
|
APN |
10 |
24,746,615 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4362001:Med23
|
UTSW |
10 |
24,750,469 (GRCm39) |
missense |
probably benign |
0.01 |
R0080:Med23
|
UTSW |
10 |
24,788,715 (GRCm39) |
missense |
probably benign |
0.33 |
R0125:Med23
|
UTSW |
10 |
24,776,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R0311:Med23
|
UTSW |
10 |
24,773,256 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0765:Med23
|
UTSW |
10 |
24,776,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R1302:Med23
|
UTSW |
10 |
24,764,320 (GRCm39) |
splice site |
probably null |
|
R1456:Med23
|
UTSW |
10 |
24,779,550 (GRCm39) |
splice site |
probably benign |
|
R1514:Med23
|
UTSW |
10 |
24,768,565 (GRCm39) |
splice site |
probably benign |
|
R1774:Med23
|
UTSW |
10 |
24,779,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R1928:Med23
|
UTSW |
10 |
24,785,710 (GRCm39) |
missense |
probably benign |
|
R1975:Med23
|
UTSW |
10 |
24,786,664 (GRCm39) |
missense |
probably benign |
0.01 |
R2011:Med23
|
UTSW |
10 |
24,755,653 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2266:Med23
|
UTSW |
10 |
24,750,499 (GRCm39) |
missense |
probably benign |
0.00 |
R2309:Med23
|
UTSW |
10 |
24,746,586 (GRCm39) |
missense |
probably damaging |
0.99 |
R2507:Med23
|
UTSW |
10 |
24,786,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R2566:Med23
|
UTSW |
10 |
24,764,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R3720:Med23
|
UTSW |
10 |
24,767,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R3771:Med23
|
UTSW |
10 |
24,778,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R3811:Med23
|
UTSW |
10 |
24,768,491 (GRCm39) |
splice site |
probably null |
|
R3811:Med23
|
UTSW |
10 |
24,768,490 (GRCm39) |
nonsense |
probably null |
|
R4305:Med23
|
UTSW |
10 |
24,780,168 (GRCm39) |
nonsense |
probably null |
|
R4323:Med23
|
UTSW |
10 |
24,746,603 (GRCm39) |
missense |
probably benign |
0.02 |
R4701:Med23
|
UTSW |
10 |
24,769,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R4886:Med23
|
UTSW |
10 |
24,750,581 (GRCm39) |
critical splice donor site |
probably null |
|
R4925:Med23
|
UTSW |
10 |
24,786,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R4943:Med23
|
UTSW |
10 |
24,751,567 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5207:Med23
|
UTSW |
10 |
24,771,734 (GRCm39) |
nonsense |
probably null |
|
R5749:Med23
|
UTSW |
10 |
24,764,347 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5806:Med23
|
UTSW |
10 |
24,783,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R5896:Med23
|
UTSW |
10 |
24,778,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R5954:Med23
|
UTSW |
10 |
24,746,381 (GRCm39) |
splice site |
probably benign |
|
R6031:Med23
|
UTSW |
10 |
24,779,646 (GRCm39) |
nonsense |
probably null |
|
R6031:Med23
|
UTSW |
10 |
24,779,646 (GRCm39) |
nonsense |
probably null |
|
R6093:Med23
|
UTSW |
10 |
24,754,341 (GRCm39) |
missense |
probably benign |
0.16 |
R6107:Med23
|
UTSW |
10 |
24,781,932 (GRCm39) |
nonsense |
probably null |
|
R6356:Med23
|
UTSW |
10 |
24,764,311 (GRCm39) |
missense |
probably damaging |
0.98 |
R6393:Med23
|
UTSW |
10 |
24,749,374 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6533:Med23
|
UTSW |
10 |
24,769,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R6911:Med23
|
UTSW |
10 |
24,778,079 (GRCm39) |
missense |
probably damaging |
0.98 |
R6981:Med23
|
UTSW |
10 |
24,771,722 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7085:Med23
|
UTSW |
10 |
24,746,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R7215:Med23
|
UTSW |
10 |
24,764,327 (GRCm39) |
missense |
probably benign |
|
R7229:Med23
|
UTSW |
10 |
24,777,902 (GRCm39) |
missense |
probably benign |
|
R7489:Med23
|
UTSW |
10 |
24,780,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R7530:Med23
|
UTSW |
10 |
24,781,851 (GRCm39) |
missense |
probably benign |
0.00 |
R7643:Med23
|
UTSW |
10 |
24,781,863 (GRCm39) |
missense |
probably benign |
0.01 |
R7653:Med23
|
UTSW |
10 |
24,780,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R7764:Med23
|
UTSW |
10 |
24,785,818 (GRCm39) |
critical splice donor site |
probably null |
|
R7784:Med23
|
UTSW |
10 |
24,778,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R8024:Med23
|
UTSW |
10 |
24,755,581 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8182:Med23
|
UTSW |
10 |
24,788,705 (GRCm39) |
missense |
probably benign |
|
R8412:Med23
|
UTSW |
10 |
24,784,632 (GRCm39) |
missense |
probably benign |
0.01 |
R8874:Med23
|
UTSW |
10 |
24,771,617 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8975:Med23
|
UTSW |
10 |
24,780,334 (GRCm39) |
missense |
probably benign |
0.42 |
R9131:Med23
|
UTSW |
10 |
24,780,279 (GRCm39) |
missense |
|
|
R9202:Med23
|
UTSW |
10 |
24,780,202 (GRCm39) |
missense |
probably benign |
0.12 |
R9341:Med23
|
UTSW |
10 |
24,788,705 (GRCm39) |
missense |
probably benign |
|
R9342:Med23
|
UTSW |
10 |
24,750,469 (GRCm39) |
missense |
probably benign |
0.01 |
R9343:Med23
|
UTSW |
10 |
24,788,705 (GRCm39) |
missense |
probably benign |
|
R9412:Med23
|
UTSW |
10 |
24,778,019 (GRCm39) |
missense |
probably damaging |
1.00 |
RF003:Med23
|
UTSW |
10 |
24,779,683 (GRCm39) |
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 |