Incidental Mutation 'R6031:Med23'
| ID |
480411 |
| 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 |
044203-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6031 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 24779646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 542
(R542*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020159
AA Change: R902*
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: R902*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000092646
AA Change: R908*
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: R908*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176285
AA Change: R542*
|
| SMART Domains |
Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: R542*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.7%
- 20x: 88.0%
|
| 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. 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,214,084 (GRCm39) |
Y304H |
possibly damaging |
Het |
| Add2 |
A |
G |
6: 86,075,655 (GRCm39) |
E268G |
probably damaging |
Het |
| Akr1b1 |
A |
C |
6: 34,289,609 (GRCm39) |
V67G |
probably benign |
Het |
| Alms1 |
A |
T |
6: 85,599,937 (GRCm39) |
N1588Y |
probably damaging |
Het |
| Arhgap23 |
A |
T |
11: 97,366,965 (GRCm39) |
D1082V |
probably damaging |
Het |
| Asb6 |
A |
G |
2: 30,714,207 (GRCm39) |
V301A |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Atg7 |
T |
A |
6: 114,648,194 (GRCm39) |
C31S |
probably benign |
Het |
| Camsap2 |
A |
T |
1: 136,208,176 (GRCm39) |
N1105K |
possibly damaging |
Het |
| Ccdc125 |
C |
T |
13: 100,820,877 (GRCm39) |
|
probably null |
Het |
| Ccdc63 |
T |
C |
5: 122,267,799 (GRCm39) |
I56V |
possibly damaging |
Het |
| Cpd |
T |
C |
11: 76,681,714 (GRCm39) |
E1143G |
probably benign |
Het |
| Cpt1a |
T |
A |
19: 3,421,556 (GRCm39) |
|
probably null |
Het |
| Creb3l2 |
A |
T |
6: 37,311,369 (GRCm39) |
D473E |
probably benign |
Het |
| Crocc |
A |
T |
4: 140,761,668 (GRCm39) |
|
probably null |
Het |
| Ctsd |
A |
T |
7: 141,930,451 (GRCm39) |
C364S |
probably damaging |
Het |
| Disp2 |
G |
T |
2: 118,620,275 (GRCm39) |
V336L |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,017,106 (GRCm39) |
I782T |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,846,427 (GRCm39) |
V230A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,899,788 (GRCm39) |
T3082S |
probably benign |
Het |
| Frmd3 |
T |
C |
4: 74,105,688 (GRCm39) |
Y445H |
probably damaging |
Het |
| Galt |
G |
A |
4: 41,757,202 (GRCm39) |
R185Q |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,520,818 (GRCm39) |
I309T |
possibly damaging |
Het |
| Gfi1b |
G |
A |
2: 28,503,820 (GRCm39) |
Q127* |
probably null |
Het |
| Gfpt1 |
C |
A |
6: 87,063,302 (GRCm39) |
T563N |
probably damaging |
Het |
| Gria1 |
A |
G |
11: 57,108,608 (GRCm39) |
D237G |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,666,465 (GRCm39) |
V305D |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,859,307 (GRCm39) |
V9A |
probably damaging |
Het |
| Ipo4 |
G |
A |
14: 55,869,596 (GRCm39) |
P355S |
probably damaging |
Het |
| Jade2 |
G |
T |
11: 51,717,413 (GRCm39) |
C314* |
probably null |
Het |
| Kri1 |
T |
C |
9: 21,186,565 (GRCm39) |
E597G |
probably benign |
Het |
| Mcub |
A |
G |
3: 129,720,038 (GRCm39) |
Y152H |
probably damaging |
Het |
| Ndc80 |
T |
C |
17: 71,818,483 (GRCm39) |
N291S |
probably benign |
Het |
| Nop2 |
T |
C |
6: 125,110,529 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
T |
C |
17: 90,896,218 (GRCm39) |
N984S |
probably damaging |
Het |
| Ntm |
A |
C |
9: 28,920,671 (GRCm39) |
L86R |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,661,219 (GRCm39) |
D1847E |
possibly damaging |
Het |
| Odf2l |
A |
G |
3: 144,845,624 (GRCm39) |
Q334R |
probably damaging |
Het |
| Or10ak11 |
A |
T |
4: 118,687,588 (GRCm39) |
|
probably null |
Het |
| Or2ag2 |
C |
T |
7: 106,485,134 (GRCm39) |
V297I |
possibly damaging |
Het |
| Or4a39 |
T |
A |
2: 89,237,316 (GRCm39) |
T36S |
probably damaging |
Het |
| Or5ac17 |
T |
C |
16: 59,036,296 (GRCm39) |
R227G |
probably benign |
Het |
| Or6ae1 |
A |
T |
7: 139,742,722 (GRCm39) |
V47E |
possibly damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,224 (GRCm39) |
V222A |
probably benign |
Het |
| Pacc1 |
A |
G |
1: 191,073,037 (GRCm39) |
R153G |
probably benign |
Het |
| Pcdhb19 |
A |
T |
18: 37,630,776 (GRCm39) |
K190N |
probably damaging |
Het |
| Pdik1l |
A |
G |
4: 134,006,352 (GRCm39) |
F197L |
probably damaging |
Het |
| Rnf113a2 |
T |
C |
12: 84,464,764 (GRCm39) |
F219L |
probably damaging |
Het |
| Rnf208 |
A |
C |
2: 25,133,776 (GRCm39) |
T157P |
probably damaging |
Het |
| Scn8a |
A |
T |
15: 100,881,865 (GRCm39) |
D644V |
probably damaging |
Het |
| Thbs3 |
T |
A |
3: 89,125,401 (GRCm39) |
C204S |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,851,565 (GRCm39) |
I444T |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,282,191 (GRCm39) |
I696F |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,660,941 (GRCm39) |
V7422D |
possibly damaging |
Het |
| Ufl1 |
A |
G |
4: 25,278,038 (GRCm39) |
V139A |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,308,238 (GRCm39) |
V381D |
probably benign |
Het |
| Vgll3 |
T |
A |
16: 65,636,367 (GRCm39) |
Y173N |
probably damaging |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,158 (GRCm39) |
T78A |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,472,114 (GRCm39) |
L806M |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 144,895,079 (GRCm39) |
H394Q |
probably benign |
Het |
| Wdr53 |
T |
A |
16: 32,075,536 (GRCm39) |
V247D |
probably damaging |
Het |
| Wdr81 |
A |
T |
11: 75,338,695 (GRCm39) |
L1488Q |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,809,732 (GRCm39) |
D3G |
possibly damaging |
Het |
| Zfp93 |
G |
T |
7: 23,975,725 (GRCm39) |
C570F |
probably damaging |
Het |
| Zfp943 |
C |
T |
17: 22,212,357 (GRCm39) |
T481I |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2017-06-26 |
Incidental Mutation