Incidental Mutation 'R6393:Med23'
| ID |
515889 |
| 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 |
044542-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6393 (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 24749374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 31
(S31T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176313]
[ENSMUST00000176502]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020159
AA Change: S58T
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: S58T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092646
AA Change: S58T
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: S58T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176313
AA Change: S31T
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135751
Gene: ENSMUSG00000019984
AA Change: S31T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
1 |
197 |
1.7e-75 |
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 |
noncoding transcript
Transcript: ENSMUST00000176827
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177175
|
| 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: ENSMUST00000177522
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
99% (70/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,856,690 (GRCm39) |
Q14R |
possibly damaging |
Het |
| Adamts12 |
A |
G |
15: 11,255,721 (GRCm39) |
D430G |
probably damaging |
Het |
| Agxt2 |
T |
C |
15: 10,393,894 (GRCm39) |
|
probably null |
Het |
| Akirin1 |
T |
G |
4: 123,637,324 (GRCm39) |
Q87P |
possibly damaging |
Het |
| Ank2 |
G |
A |
3: 126,723,406 (GRCm39) |
R974C |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,354,498 (GRCm39) |
I804V |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,130,527 (GRCm39) |
L437Q |
possibly damaging |
Het |
| Atp8a2 |
G |
T |
14: 60,011,204 (GRCm39) |
Y967* |
probably null |
Het |
| Calcr |
A |
G |
6: 3,708,586 (GRCm39) |
L200S |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,916,828 (GRCm39) |
V528D |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,821,407 (GRCm39) |
Y1296H |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,302,063 (GRCm39) |
R28C |
possibly damaging |
Het |
| Clrn1 |
A |
G |
3: 58,753,741 (GRCm39) |
F207L |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,562,767 (GRCm39) |
T1772A |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,360,491 (GRCm39) |
T1744A |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,037,218 (GRCm39) |
E655G |
probably damaging |
Het |
| Dnajb3 |
T |
A |
1: 88,133,384 (GRCm39) |
E6V |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,060,051 (GRCm39) |
P463S |
probably benign |
Het |
| Eif4a3l1 |
A |
G |
6: 136,305,596 (GRCm39) |
K19R |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,555,374 (GRCm39) |
C1128S |
probably benign |
Het |
| Fcrl5 |
G |
A |
3: 87,355,634 (GRCm39) |
G449E |
probably damaging |
Het |
| Frem2 |
G |
T |
3: 53,493,061 (GRCm39) |
N1818K |
possibly damaging |
Het |
| Gm21149 |
C |
A |
5: 15,678,037 (GRCm39) |
V187L |
possibly damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gstm7 |
A |
G |
3: 107,838,142 (GRCm39) |
|
probably null |
Het |
| Htr1b |
T |
A |
9: 81,513,810 (GRCm39) |
I266F |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 138,620,900 (GRCm39) |
I305T |
probably damaging |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Kifc5b |
T |
C |
17: 27,140,816 (GRCm39) |
C97R |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,288,912 (GRCm39) |
H557L |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,612,813 (GRCm39) |
V1199A |
probably benign |
Het |
| Lmbr1 |
A |
G |
5: 29,459,292 (GRCm39) |
L246P |
probably damaging |
Het |
| M6pr |
T |
C |
6: 122,292,339 (GRCm39) |
L178P |
possibly damaging |
Het |
| Med17 |
A |
G |
9: 15,185,879 (GRCm39) |
S212P |
probably damaging |
Het |
| Morc2b |
T |
G |
17: 33,356,750 (GRCm39) |
T341P |
probably damaging |
Het |
| Mre11a |
A |
G |
9: 14,696,805 (GRCm39) |
M1V |
probably null |
Het |
| Mrpl17 |
T |
C |
7: 105,459,122 (GRCm39) |
H158R |
probably benign |
Het |
| Mstn |
A |
G |
1: 53,105,648 (GRCm39) |
Q330R |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,558,695 (GRCm39) |
K2533* |
probably null |
Het |
| N4bp2 |
T |
C |
5: 65,948,344 (GRCm39) |
S325P |
possibly damaging |
Het |
| Nadk |
A |
G |
4: 155,673,808 (GRCm39) |
Y399C |
possibly damaging |
Het |
| Nbea |
A |
C |
3: 55,998,540 (GRCm39) |
L89R |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,328,181 (GRCm39) |
F775L |
probably benign |
Het |
| Ndufa11 |
C |
A |
17: 57,028,331 (GRCm39) |
A70E |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,976,851 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Or10q3 |
A |
T |
19: 11,848,091 (GRCm39) |
L163Q |
probably damaging |
Het |
| Or12e9 |
A |
G |
2: 87,201,909 (GRCm39) |
N11S |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,618,762 (GRCm39) |
S443P |
probably damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,304,793 (GRCm39) |
D425G |
probably benign |
Het |
| Pdcd1lg2 |
T |
A |
19: 29,414,698 (GRCm39) |
C42S |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Rbm46 |
G |
A |
3: 82,771,262 (GRCm39) |
T451M |
probably benign |
Het |
| Rcan2 |
T |
A |
17: 44,264,370 (GRCm39) |
V10D |
probably benign |
Het |
| Rpl7l1 |
T |
C |
17: 47,093,548 (GRCm39) |
E4G |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,506 (GRCm39) |
E613G |
probably benign |
Het |
| Sbk2 |
T |
C |
7: 4,960,621 (GRCm39) |
D183G |
probably damaging |
Het |
| Slc15a4 |
C |
T |
5: 127,693,950 (GRCm39) |
A162T |
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,527,966 (GRCm39) |
W315R |
probably damaging |
Het |
| Slc39a14 |
G |
C |
14: 70,547,262 (GRCm39) |
F361L |
probably benign |
Het |
| Slc6a13 |
T |
C |
6: 121,313,801 (GRCm39) |
Y515H |
possibly damaging |
Het |
| Slitrk3 |
C |
A |
3: 72,957,247 (GRCm39) |
K508N |
possibly damaging |
Het |
| Stard4 |
T |
C |
18: 33,338,278 (GRCm39) |
D144G |
probably benign |
Het |
| Tlr9 |
T |
C |
9: 106,102,136 (GRCm39) |
F476L |
probably damaging |
Het |
| Tshz1 |
A |
T |
18: 84,031,345 (GRCm39) |
V1021D |
probably damaging |
Het |
| Vmn1r54 |
A |
T |
6: 90,246,304 (GRCm39) |
I73F |
probably benign |
Het |
| Vmn2r19 |
A |
C |
6: 123,293,112 (GRCm39) |
S385R |
possibly damaging |
Het |
| Xkr5 |
A |
G |
8: 18,998,716 (GRCm39) |
L34P |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,875,770 (GRCm39) |
V121A |
probably damaging |
Het |
| Zbtb40 |
T |
A |
4: 136,712,177 (GRCm39) |
H268L |
probably null |
Het |
| Zfp865 |
T |
C |
7: 5,033,065 (GRCm39) |
F350S |
probably damaging |
Het |
| Zscan4b |
T |
C |
7: 10,634,828 (GRCm39) |
I472V |
possibly damaging |
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 |
|
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'- AGGCTTCAGTGTGAGCATGG -3'
(R):5'- AGTCCGCAACTTTATAACCAAAGG -3'
Sequencing Primer
(F):5'- CATGGCTTTGGTATCAAGAGTTAACG -3'
(R):5'- TTATAACCAAAGGTCTTTCCACCG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation