Incidental Mutation 'R6981:Med23'
ID |
542687 |
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 |
045089-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6981 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24771722 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 581
(S581T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000176502]
[ENSMUST00000177232]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020159
AA Change: S581T
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000020159 Gene: ENSMUSG00000019984 AA Change: S581T
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092646
AA Change: S587T
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000090316 Gene: ENSMUSG00000019984 AA Change: S587T
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176285
AA Change: S221T
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000135232 Gene: ENSMUSG00000019984 AA Change: S221T
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: ENSMUST00000176502
|
SMART Domains |
Protein: ENSMUSP00000134836 Gene: ENSMUSG00000019984
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
1 |
95 |
8.7e-36 |
PFAM |
Pfam:Med23
|
92 |
234 |
3.8e-63 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
Validation Efficiency |
99% (68/69) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
G |
A |
11: 58,184,544 (GRCm39) |
|
probably benign |
Het |
5031439G07Rik |
A |
C |
15: 84,833,798 (GRCm39) |
Y419* |
probably null |
Het |
Abca2 |
T |
A |
2: 25,334,151 (GRCm39) |
F1809L |
probably damaging |
Het |
Ache |
C |
T |
5: 137,289,940 (GRCm39) |
T423I |
probably benign |
Het |
Acvrl1 |
A |
G |
15: 101,036,226 (GRCm39) |
T395A |
probably damaging |
Het |
Ap3b2 |
A |
G |
7: 81,127,741 (GRCm39) |
I145T |
probably damaging |
Het |
Arhgef4 |
A |
C |
1: 34,761,533 (GRCm39) |
Q263P |
unknown |
Het |
Asgr2 |
C |
T |
11: 69,987,636 (GRCm39) |
L45F |
probably damaging |
Het |
Baiap2l1 |
T |
A |
5: 144,222,389 (GRCm39) |
Y122F |
possibly damaging |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Car8 |
A |
T |
4: 8,185,650 (GRCm39) |
|
probably null |
Het |
Carns1 |
T |
C |
19: 4,220,081 (GRCm39) |
T385A |
probably benign |
Het |
Ccdc47 |
T |
C |
11: 106,093,563 (GRCm39) |
T41A |
probably benign |
Het |
Ccne1 |
A |
T |
7: 37,797,998 (GRCm39) |
|
probably benign |
Het |
Cdh4 |
C |
T |
2: 179,439,297 (GRCm39) |
T148I |
probably benign |
Het |
Cep85 |
C |
T |
4: 133,879,572 (GRCm39) |
R392Q |
probably damaging |
Het |
Ces1h |
T |
C |
8: 94,080,123 (GRCm39) |
T464A |
unknown |
Het |
Cfl1 |
T |
A |
19: 5,542,644 (GRCm39) |
S41R |
possibly damaging |
Het |
Crnn |
T |
C |
3: 93,055,442 (GRCm39) |
V76A |
probably damaging |
Het |
Cspg4 |
A |
G |
9: 56,794,385 (GRCm39) |
T707A |
probably benign |
Het |
Dgkh |
A |
T |
14: 78,865,182 (GRCm39) |
C53* |
probably null |
Het |
Dhx34 |
G |
T |
7: 15,949,255 (GRCm39) |
A391E |
possibly damaging |
Het |
Dlx1 |
C |
A |
2: 71,362,697 (GRCm39) |
N201K |
probably benign |
Het |
Dnah6 |
T |
C |
6: 72,998,161 (GRCm39) |
E4087G |
probably benign |
Het |
Dock6 |
T |
C |
9: 21,756,846 (GRCm39) |
Y134C |
probably damaging |
Het |
Duox2 |
A |
G |
2: 122,121,708 (GRCm39) |
V662A |
possibly damaging |
Het |
Dusp12 |
A |
G |
1: 170,708,530 (GRCm39) |
F12L |
probably damaging |
Het |
Eppk1 |
T |
C |
15: 75,995,237 (GRCm39) |
E548G |
probably benign |
Het |
Foxj2 |
A |
G |
6: 122,819,798 (GRCm39) |
D562G |
probably benign |
Het |
Foxj2 |
A |
G |
6: 122,805,403 (GRCm39) |
I92V |
probably damaging |
Het |
Gm17728 |
A |
G |
17: 9,640,991 (GRCm39) |
R34G |
probably damaging |
Het |
Gpc6 |
T |
C |
14: 117,861,960 (GRCm39) |
I292T |
probably damaging |
Het |
Gpr15 |
T |
A |
16: 58,538,548 (GRCm39) |
K180N |
probably benign |
Het |
Gtf2ird1 |
G |
T |
5: 134,412,776 (GRCm39) |
|
probably benign |
Het |
H2ac12 |
A |
G |
13: 22,219,719 (GRCm39) |
S2P |
probably benign |
Het |
Hps3 |
T |
A |
3: 20,076,984 (GRCm39) |
T393S |
probably damaging |
Het |
Hspa1a |
A |
T |
17: 35,189,267 (GRCm39) |
|
probably null |
Het |
Hydin |
A |
G |
8: 111,257,704 (GRCm39) |
E2378G |
possibly damaging |
Het |
Ighv1-18 |
A |
G |
12: 114,646,298 (GRCm39) |
L102P |
probably damaging |
Het |
Itga5 |
T |
A |
15: 103,258,653 (GRCm39) |
N814I |
probably benign |
Het |
Kcnb2 |
T |
C |
1: 15,780,480 (GRCm39) |
S451P |
probably damaging |
Het |
Klhl32 |
T |
G |
4: 24,709,030 (GRCm39) |
I112L |
probably damaging |
Het |
Knstrn |
T |
G |
2: 118,664,575 (GRCm39) |
I47R |
possibly damaging |
Het |
Mgat5 |
C |
T |
1: 127,318,588 (GRCm39) |
T361I |
probably damaging |
Het |
Nipal3 |
A |
G |
4: 135,206,858 (GRCm39) |
V112A |
probably damaging |
Het |
Or10a5 |
T |
A |
7: 106,635,956 (GRCm39) |
V198D |
possibly damaging |
Het |
Or2b2 |
A |
G |
13: 21,887,243 (GRCm39) |
E24G |
probably benign |
Het |
Or4k41 |
T |
C |
2: 111,279,697 (GRCm39) |
F71L |
probably benign |
Het |
Or5g27 |
A |
G |
2: 85,409,825 (GRCm39) |
M81V |
probably benign |
Het |
Paxip1 |
G |
A |
5: 27,970,766 (GRCm39) |
Q528* |
probably null |
Het |
Proser2 |
T |
C |
2: 6,118,801 (GRCm39) |
D14G |
probably damaging |
Het |
Rp1 |
T |
G |
1: 4,415,878 (GRCm39) |
I1745L |
probably benign |
Het |
Rxfp2 |
G |
T |
5: 149,972,313 (GRCm39) |
|
probably null |
Het |
Slc45a1 |
T |
C |
4: 150,723,051 (GRCm39) |
S278G |
possibly damaging |
Het |
Smurf1 |
A |
G |
5: 144,823,179 (GRCm39) |
I455T |
possibly damaging |
Het |
Speg |
T |
C |
1: 75,407,557 (GRCm39) |
L3188P |
probably damaging |
Het |
Tcaf3 |
G |
T |
6: 42,574,059 (GRCm39) |
A51D |
probably damaging |
Het |
Tecrl |
T |
C |
5: 83,502,768 (GRCm39) |
N12S |
possibly damaging |
Het |
Tmem17 |
T |
A |
11: 22,468,508 (GRCm39) |
I149N |
possibly damaging |
Het |
Tmem171 |
A |
G |
13: 98,828,976 (GRCm39) |
V58A |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,691,521 (GRCm39) |
|
probably benign |
Het |
Ubqln5 |
A |
G |
7: 103,777,808 (GRCm39) |
S339P |
probably benign |
Het |
Vmn1r16 |
T |
A |
6: 57,300,473 (GRCm39) |
I50L |
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,013,739 (GRCm39) |
Y177F |
probably benign |
Het |
Zfp28 |
C |
A |
7: 6,397,692 (GRCm39) |
T709K |
probably damaging |
Het |
Zfp958 |
A |
G |
8: 4,676,170 (GRCm39) |
N46S |
probably benign |
Het |
Zyx |
T |
A |
6: 42,327,291 (GRCm39) |
V30E |
unknown |
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 |
R1851:Med23
|
UTSW |
10 |
24,786,768 (GRCm39) |
splice site |
probably null |
|
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 |
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'- GTCTCTGCCTCTGAGAAGAAC -3'
(R):5'- ACACTAAGGGAGGCCTGTTC -3'
Sequencing Primer
(F):5'- CAACTGTGTTCATAGACACGGGTTC -3'
(R):5'- GCCCTTTGACTCCCACAG -3'
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Posted On |
2018-11-28 |