Incidental Mutation 'IGL01469:Med23'
| ID |
88211 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Med23
|
| Ensembl Gene |
ENSMUSG00000019984 |
| Gene Name |
mediator complex subunit 23 |
| Synonyms |
X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01469
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
24869986-24913681 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24882597 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 278
(E278G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090316
(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: E278G
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: E278G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092646
AA Change: E278G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: E278G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176313
|
| SMART Domains |
Protein: ENSMUSP00000135751
Gene: ENSMUSG00000019984
| 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 |
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
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430007A20Rik |
A |
G |
4: 144,528,622 (GRCm38) |
Q204R |
possibly damaging |
Het |
| Actn2 |
C |
T |
13: 12,310,910 (GRCm38) |
E60K |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,677,752 (GRCm38) |
|
probably null |
Het |
| Ccdc107 |
A |
G |
4: 43,495,751 (GRCm38) |
N218S |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,597,725 (GRCm38) |
M60K |
probably benign |
Het |
| Cenpe |
A |
G |
3: 135,228,806 (GRCm38) |
Q378R |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,683,714 (GRCm38) |
|
probably benign |
Het |
| Eif2b4 |
T |
C |
5: 31,187,767 (GRCm38) |
D190G |
probably benign |
Het |
| Fmo5 |
A |
G |
3: 97,651,568 (GRCm38) |
N448S |
probably benign |
Het |
| Gal3st2c |
A |
G |
1: 94,009,317 (GRCm38) |
N328S |
probably benign |
Het |
| Gbf1 |
A |
T |
19: 46,279,364 (GRCm38) |
E1271V |
probably damaging |
Het |
| Ifitm6 |
A |
T |
7: 141,016,812 (GRCm38) |
V16D |
probably damaging |
Het |
| Ighv2-4 |
A |
G |
12: 113,653,346 (GRCm38) |
|
probably null |
Het |
| Kng2 |
T |
A |
16: 22,999,827 (GRCm38) |
K305I |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,584,414 (GRCm38) |
R900Q |
probably damaging |
Het |
| Maml1 |
A |
G |
11: 50,266,526 (GRCm38) |
M274T |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,361,269 (GRCm38) |
T164A |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,186,869 (GRCm38) |
S135R |
probably benign |
Het |
| Nrbf2 |
A |
G |
10: 67,270,140 (GRCm38) |
L41P |
probably damaging |
Het |
| Olfr108 |
T |
A |
17: 37,445,535 (GRCm38) |
S5T |
probably benign |
Het |
| Olfr341 |
T |
C |
2: 36,479,824 (GRCm38) |
Y102C |
probably benign |
Het |
| Olfr514 |
A |
G |
7: 108,825,327 (GRCm38) |
V224A |
probably benign |
Het |
| Olfr678 |
T |
A |
7: 105,070,388 (GRCm38) |
M307K |
probably benign |
Het |
| Olfr782 |
A |
G |
10: 129,350,580 (GRCm38) |
M6V |
probably benign |
Het |
| Otoa |
T |
C |
7: 121,155,273 (GRCm38) |
|
probably null |
Het |
| Pih1d3 |
A |
T |
1: 31,223,429 (GRCm38) |
D164V |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 109,105,415 (GRCm38) |
|
probably benign |
Het |
| Ppp1r42 |
A |
T |
1: 10,003,233 (GRCm38) |
|
probably null |
Het |
| Rad54l2 |
T |
A |
9: 106,722,758 (GRCm38) |
K100M |
probably damaging |
Het |
| Rnf112 |
T |
A |
11: 61,451,341 (GRCm38) |
T308S |
possibly damaging |
Het |
| Scaper |
T |
C |
9: 55,859,767 (GRCm38) |
D466G |
probably damaging |
Het |
| Sgsm2 |
T |
A |
11: 74,853,871 (GRCm38) |
I796L |
possibly damaging |
Het |
| Shank3 |
T |
C |
15: 89,521,274 (GRCm38) |
L476P |
probably damaging |
Het |
| Shkbp1 |
T |
C |
7: 27,355,941 (GRCm38) |
T6A |
probably benign |
Het |
| Slc14a2 |
A |
T |
18: 78,155,566 (GRCm38) |
I783N |
probably damaging |
Het |
| Stat1 |
A |
G |
1: 52,147,370 (GRCm38) |
D447G |
possibly damaging |
Het |
| Tekt3 |
T |
G |
11: 63,073,468 (GRCm38) |
I208S |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,236,423 (GRCm38) |
V2043E |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 130,024,494 (GRCm38) |
Y111H |
probably damaging |
Het |
| Tph2 |
T |
A |
10: 115,079,759 (GRCm38) |
R459* |
probably null |
Het |
| Vmn2r109 |
T |
C |
17: 20,541,409 (GRCm38) |
Y562C |
probably damaging |
Het |
|
| Other mutations in Med23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00670:Med23
|
APN |
10 |
24,888,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00792:Med23
|
APN |
10 |
24,877,004 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01289:Med23
|
APN |
10 |
24,902,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01598:Med23
|
APN |
10 |
24,903,798 (GRCm38) |
missense |
probably benign |
0.34 |
|
IGL02324:Med23
|
APN |
10 |
24,897,341 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02381:Med23
|
APN |
10 |
24,900,728 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02465:Med23
|
APN |
10 |
24,903,743 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02554:Med23
|
APN |
10 |
24,898,575 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02683:Med23
|
APN |
10 |
24,870,717 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4362001:Med23
|
UTSW |
10 |
24,874,571 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0080:Med23
|
UTSW |
10 |
24,912,817 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0125:Med23
|
UTSW |
10 |
24,900,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0311:Med23
|
UTSW |
10 |
24,897,358 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0765:Med23
|
UTSW |
10 |
24,900,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1302:Med23
|
UTSW |
10 |
24,888,422 (GRCm38) |
splice site |
probably null |
|
|
R1456:Med23
|
UTSW |
10 |
24,903,652 (GRCm38) |
splice site |
probably benign |
|
|
R1514:Med23
|
UTSW |
10 |
24,892,667 (GRCm38) |
splice site |
probably benign |
|
|
R1774:Med23
|
UTSW |
10 |
24,903,686 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1851:Med23
|
UTSW |
10 |
24,910,870 (GRCm38) |
splice site |
probably null |
|
|
R1928:Med23
|
UTSW |
10 |
24,909,812 (GRCm38) |
missense |
probably benign |
|
|
R1975:Med23
|
UTSW |
10 |
24,910,766 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2011:Med23
|
UTSW |
10 |
24,879,755 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R2266:Med23
|
UTSW |
10 |
24,874,601 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2309:Med23
|
UTSW |
10 |
24,870,688 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2507:Med23
|
UTSW |
10 |
24,910,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2566:Med23
|
UTSW |
10 |
24,888,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3720:Med23
|
UTSW |
10 |
24,891,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3771:Med23
|
UTSW |
10 |
24,902,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3811:Med23
|
UTSW |
10 |
24,892,593 (GRCm38) |
splice site |
probably null |
|
|
R3811:Med23
|
UTSW |
10 |
24,892,592 (GRCm38) |
nonsense |
probably null |
|
|
R4305:Med23
|
UTSW |
10 |
24,904,270 (GRCm38) |
nonsense |
probably null |
|
|
R4323:Med23
|
UTSW |
10 |
24,870,705 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4701:Med23
|
UTSW |
10 |
24,893,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4886:Med23
|
UTSW |
10 |
24,874,683 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4925:Med23
|
UTSW |
10 |
24,910,747 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4943:Med23
|
UTSW |
10 |
24,875,669 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5207:Med23
|
UTSW |
10 |
24,895,836 (GRCm38) |
nonsense |
probably null |
|
|
R5749:Med23
|
UTSW |
10 |
24,888,449 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R5806:Med23
|
UTSW |
10 |
24,907,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5896:Med23
|
UTSW |
10 |
24,902,145 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5954:Med23
|
UTSW |
10 |
24,870,483 (GRCm38) |
splice site |
probably benign |
|
|
R6031:Med23
|
UTSW |
10 |
24,903,748 (GRCm38) |
nonsense |
probably null |
|
|
R6031:Med23
|
UTSW |
10 |
24,903,748 (GRCm38) |
nonsense |
probably null |
|
|
R6093:Med23
|
UTSW |
10 |
24,878,443 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6107:Med23
|
UTSW |
10 |
24,906,034 (GRCm38) |
nonsense |
probably null |
|
|
R6356:Med23
|
UTSW |
10 |
24,888,413 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6393:Med23
|
UTSW |
10 |
24,873,476 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6533:Med23
|
UTSW |
10 |
24,893,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6911:Med23
|
UTSW |
10 |
24,902,181 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6981:Med23
|
UTSW |
10 |
24,895,824 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7085:Med23
|
UTSW |
10 |
24,870,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7215:Med23
|
UTSW |
10 |
24,888,429 (GRCm38) |
missense |
probably benign |
|
|
R7229:Med23
|
UTSW |
10 |
24,902,004 (GRCm38) |
missense |
probably benign |
|
|
R7489:Med23
|
UTSW |
10 |
24,904,356 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7530:Med23
|
UTSW |
10 |
24,905,953 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7643:Med23
|
UTSW |
10 |
24,905,965 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7653:Med23
|
UTSW |
10 |
24,904,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7764:Med23
|
UTSW |
10 |
24,909,920 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7784:Med23
|
UTSW |
10 |
24,902,448 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8024:Med23
|
UTSW |
10 |
24,879,683 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R8182:Med23
|
UTSW |
10 |
24,912,807 (GRCm38) |
missense |
probably benign |
|
|
R8412:Med23
|
UTSW |
10 |
24,908,734 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8874:Med23
|
UTSW |
10 |
24,895,719 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8975:Med23
|
UTSW |
10 |
24,904,436 (GRCm38) |
missense |
probably benign |
0.42 |
|
R9131:Med23
|
UTSW |
10 |
24,904,381 (GRCm38) |
missense |
|
|
|
R9202:Med23
|
UTSW |
10 |
24,904,304 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9341:Med23
|
UTSW |
10 |
24,912,807 (GRCm38) |
missense |
probably benign |
|
|
R9342:Med23
|
UTSW |
10 |
24,874,571 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9343:Med23
|
UTSW |
10 |
24,912,807 (GRCm38) |
missense |
probably benign |
|
|
R9412:Med23
|
UTSW |
10 |
24,902,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF003:Med23
|
UTSW |
10 |
24,903,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation