Incidental Mutation 'R0125:Med23'
| ID |
21303 |
| 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 |
038410-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0125 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
10 |
| Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24776686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 739
(H739Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020159
AA Change: H733Y
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: H733Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092646
AA Change: H739Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: H739Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176285
AA Change: H373Y
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: H373Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
1 |
51 |
4.4e-14 |
PFAM |
|
Pfam:Med23
|
48 |
950 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176827
|
| 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 |
|
| Meta Mutation Damage Score |
0.1023 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.1%
|
| Validation Efficiency |
98% (96/98) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
T |
C |
14: 70,394,096 (GRCm39) |
|
probably benign |
Het |
| Adam23 |
T |
C |
1: 63,573,515 (GRCm39) |
L261P |
probably benign |
Het |
| Adgra3 |
G |
A |
5: 50,159,194 (GRCm39) |
|
probably benign |
Het |
| Agtr1b |
A |
G |
3: 20,369,704 (GRCm39) |
F301L |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,748,776 (GRCm39) |
T357I |
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,704,430 (GRCm39) |
|
probably benign |
Het |
| Apoh |
A |
T |
11: 108,302,899 (GRCm39) |
N288I |
probably damaging |
Het |
| Arfgap3 |
A |
G |
15: 83,227,340 (GRCm39) |
V24A |
probably benign |
Het |
| Atp6v0a1 |
A |
G |
11: 100,929,677 (GRCm39) |
|
probably null |
Het |
| Axl |
A |
T |
7: 25,486,368 (GRCm39) |
M112K |
probably benign |
Het |
| Bnc2 |
A |
C |
4: 84,211,169 (GRCm39) |
I425S |
probably damaging |
Het |
| Ccn4 |
T |
C |
15: 66,789,194 (GRCm39) |
S227P |
possibly damaging |
Het |
| Cdc42bpa |
C |
T |
1: 179,788,763 (GRCm39) |
T30M |
probably damaging |
Het |
| Cebpz |
C |
A |
17: 79,227,317 (GRCm39) |
R1051M |
possibly damaging |
Het |
| Ces1d |
A |
C |
8: 93,901,810 (GRCm39) |
|
probably benign |
Het |
| Chd1l |
T |
C |
3: 97,494,465 (GRCm39) |
N405S |
probably benign |
Het |
| Chodl |
G |
T |
16: 78,738,311 (GRCm39) |
G93V |
probably damaging |
Het |
| Cpeb2 |
C |
T |
5: 43,395,743 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,935,105 (GRCm39) |
|
probably benign |
Het |
| Crybb3 |
T |
C |
5: 113,227,675 (GRCm39) |
T49A |
possibly damaging |
Het |
| Ctps1 |
A |
G |
4: 120,418,722 (GRCm39) |
|
probably benign |
Het |
| Cyp26b1 |
A |
G |
6: 84,551,497 (GRCm39) |
Y240H |
probably damaging |
Het |
| Cyp2d11 |
A |
C |
15: 82,273,422 (GRCm39) |
V483G |
probably benign |
Het |
| Dennd2b |
T |
C |
7: 109,155,545 (GRCm39) |
K402E |
probably benign |
Het |
| Dnah14 |
A |
T |
1: 181,579,628 (GRCm39) |
N3054Y |
probably damaging |
Het |
| Dspp |
A |
C |
5: 104,325,905 (GRCm39) |
D756A |
unknown |
Het |
| Dst |
T |
C |
1: 34,309,984 (GRCm39) |
S1553P |
probably damaging |
Het |
| Elp4 |
A |
G |
2: 105,622,559 (GRCm39) |
|
probably null |
Het |
| Eml6 |
G |
T |
11: 29,832,088 (GRCm39) |
T194K |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,943,638 (GRCm39) |
I569T |
probably benign |
Het |
| Fancm |
C |
T |
12: 65,168,730 (GRCm39) |
P1698S |
possibly damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,352,852 (GRCm39) |
D791G |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,930,188 (GRCm39) |
Y253H |
probably damaging |
Het |
| Gpn3 |
A |
G |
5: 122,519,481 (GRCm39) |
Y196C |
probably benign |
Het |
| Hcls1 |
A |
G |
16: 36,782,525 (GRCm39) |
D398G |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,189,163 (GRCm39) |
V1189A |
probably benign |
Het |
| Itgb3 |
G |
A |
11: 104,534,789 (GRCm39) |
D549N |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,141,951 (GRCm39) |
F1697S |
probably benign |
Het |
| Klk1b11 |
A |
G |
7: 43,648,475 (GRCm39) |
T161A |
probably benign |
Het |
| Kntc1 |
G |
A |
5: 123,903,120 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
A |
T |
1: 127,750,837 (GRCm39) |
F838Y |
probably benign |
Het |
| Map6 |
T |
A |
7: 98,985,187 (GRCm39) |
|
probably null |
Het |
| Mcrs1 |
A |
G |
15: 99,142,608 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
T |
4: 32,729,956 (GRCm39) |
Y2766F |
probably damaging |
Het |
| Mmp17 |
T |
A |
5: 129,671,646 (GRCm39) |
D65E |
possibly damaging |
Het |
| Mmp9 |
T |
A |
2: 164,793,177 (GRCm39) |
L442Q |
probably damaging |
Het |
| Myo19 |
T |
C |
11: 84,779,001 (GRCm39) |
|
probably benign |
Het |
| Nedd1 |
A |
C |
10: 92,527,791 (GRCm39) |
S468A |
possibly damaging |
Het |
| Niban2 |
T |
A |
2: 32,813,833 (GRCm39) |
V682D |
probably benign |
Het |
| Nlrp4d |
A |
C |
7: 10,116,316 (GRCm39) |
V152G |
probably damaging |
Het |
| Nxf1 |
T |
A |
19: 8,740,170 (GRCm39) |
D112E |
probably benign |
Het |
| Oas1h |
A |
T |
5: 121,000,626 (GRCm39) |
K79* |
probably null |
Het |
| Omg |
T |
A |
11: 79,393,679 (GRCm39) |
I60F |
possibly damaging |
Het |
| Or5p69 |
A |
G |
7: 107,967,576 (GRCm39) |
Y293C |
probably damaging |
Het |
| Or8b101 |
A |
G |
9: 38,020,815 (GRCm39) |
T278A |
probably benign |
Het |
| Or8b1b |
T |
A |
9: 38,375,757 (GRCm39) |
L140* |
probably null |
Het |
| Pck1 |
G |
A |
2: 172,997,874 (GRCm39) |
W314* |
probably null |
Het |
| Pla2g15 |
T |
C |
8: 106,889,756 (GRCm39) |
Y343H |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,936,276 (GRCm39) |
E749G |
probably damaging |
Het |
| Plgrkt |
A |
G |
19: 29,328,442 (GRCm39) |
|
probably null |
Het |
| Pprc1 |
A |
G |
19: 46,057,951 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,516,871 (GRCm39) |
I1082F |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,516,701 (GRCm39) |
Y172* |
probably null |
Het |
| Ros1 |
G |
T |
10: 52,001,885 (GRCm39) |
A1079D |
probably benign |
Het |
| Sap30 |
T |
C |
8: 57,938,545 (GRCm39) |
E147G |
probably null |
Het |
| Sell |
T |
C |
1: 163,899,674 (GRCm39) |
|
probably benign |
Het |
| Senp1 |
A |
T |
15: 97,946,112 (GRCm39) |
D544E |
probably damaging |
Het |
| Shpk |
G |
A |
11: 73,105,048 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
A |
T |
11: 95,277,353 (GRCm39) |
T74S |
probably benign |
Het |
| Slc6a3 |
T |
A |
13: 73,718,098 (GRCm39) |
|
probably benign |
Het |
| Slf1 |
T |
C |
13: 77,191,864 (GRCm39) |
N990S |
probably benign |
Het |
| Smgc |
A |
G |
15: 91,738,746 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
T |
A |
9: 30,351,515 (GRCm39) |
V861D |
probably damaging |
Het |
| Sprr2e |
C |
T |
3: 92,260,285 (GRCm39) |
P39S |
unknown |
Het |
| Sstr2 |
T |
A |
11: 113,515,303 (GRCm39) |
M74K |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,099,937 (GRCm39) |
|
probably benign |
Het |
| Tas2r143 |
A |
G |
6: 42,377,889 (GRCm39) |
I240V |
probably benign |
Het |
| Tbrg1 |
T |
C |
9: 37,563,937 (GRCm39) |
I233V |
probably benign |
Het |
| Tecpr1 |
G |
T |
5: 144,134,717 (GRCm39) |
D1055E |
probably damaging |
Het |
| Thap2 |
A |
T |
10: 115,212,277 (GRCm39) |
|
probably null |
Het |
| Tinagl1 |
A |
G |
4: 130,060,101 (GRCm39) |
Y388H |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,896 (GRCm39) |
Y21945F |
probably damaging |
Het |
| Ugt2b1 |
A |
T |
5: 87,073,961 (GRCm39) |
W133R |
probably benign |
Het |
| Usp24 |
C |
T |
4: 106,254,496 (GRCm39) |
P1491L |
possibly damaging |
Het |
| Utp15 |
A |
G |
13: 98,387,390 (GRCm39) |
S395P |
possibly damaging |
Het |
| Vav1 |
T |
A |
17: 57,606,847 (GRCm39) |
L254Q |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,250,069 (GRCm39) |
Y734C |
probably damaging |
Het |
| Vps8 |
T |
A |
16: 21,288,904 (GRCm39) |
V421E |
probably benign |
Het |
| Xkr7 |
G |
T |
2: 152,874,346 (GRCm39) |
A138S |
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 |
|
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 |
|
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'- TACAATGTAGGTCCCCAGAGAGCG -3'
(R):5'- CAGACATACCAGGTTTGCCTTCCTC -3'
Sequencing Primer
(F):5'- CATCTCAGTGAGACATCTCAGGG -3'
(R):5'- ACAATTGCTTTCTCAGGAGCAC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation