Incidental Mutation 'IGL00670:Med23'
ID |
11952 |
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 |
|
Is this an essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00670
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
24869986-24913681 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24888584 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 155
(L155P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134836
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000176502]
[ENSMUST00000177232]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020159
AA Change: L357P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020159 Gene: ENSMUSG00000019984 AA Change: L357P
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092646
AA Change: L363P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000090316 Gene: ENSMUSG00000019984 AA Change: L363P
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175786
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176285
AA Change: L45P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000135232 Gene: ENSMUSG00000019984 AA Change: L45P
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
1 |
51 |
4.4e-14 |
PFAM |
Pfam:Med23
|
48 |
950 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176502
AA Change: L155P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000134836 Gene: ENSMUSG00000019984 AA Change: L155P
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: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
T |
6: 142,687,281 |
L245Q |
probably damaging |
Het |
Abcd3 |
A |
T |
3: 121,775,684 |
V333D |
probably damaging |
Het |
Aff2 |
T |
A |
X: 69,544,593 |
M122K |
possibly damaging |
Het |
Car10 |
C |
T |
11: 93,304,657 |
|
probably benign |
Het |
Cyp2d26 |
T |
A |
15: 82,791,741 |
M257L |
probably benign |
Het |
Cyp2j5 |
T |
G |
4: 96,634,275 |
D354A |
probably benign |
Het |
Fam208b |
A |
T |
13: 3,585,241 |
I522N |
probably benign |
Het |
Fam228b |
T |
C |
12: 4,764,081 |
K59E |
probably damaging |
Het |
Fndc3c1 |
T |
C |
X: 106,445,777 |
D346G |
probably benign |
Het |
Med14 |
G |
A |
X: 12,754,189 |
A95V |
probably damaging |
Het |
Mrps31 |
A |
G |
8: 22,429,190 |
D312G |
probably damaging |
Het |
Ppp1r3a |
A |
T |
6: 14,719,060 |
N618K |
probably benign |
Het |
Prb1 |
A |
T |
6: 132,207,146 |
|
probably benign |
Het |
Slc5a4a |
A |
T |
10: 76,163,733 |
I210F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,826,991 |
|
probably benign |
Het |
|
Other mutations in Med23 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00792:Med23
|
APN |
10 |
24877004 |
missense |
possibly damaging |
0.93 |
IGL01289:Med23
|
APN |
10 |
24902121 |
missense |
probably damaging |
1.00 |
IGL01469:Med23
|
APN |
10 |
24882597 |
missense |
probably damaging |
1.00 |
IGL01598:Med23
|
APN |
10 |
24903798 |
missense |
probably benign |
0.34 |
IGL02324:Med23
|
APN |
10 |
24897341 |
missense |
probably damaging |
0.98 |
IGL02381:Med23
|
APN |
10 |
24900728 |
missense |
possibly damaging |
0.95 |
IGL02465:Med23
|
APN |
10 |
24903743 |
missense |
probably damaging |
0.96 |
IGL02554:Med23
|
APN |
10 |
24898575 |
critical splice donor site |
probably null |
|
IGL02683:Med23
|
APN |
10 |
24870717 |
missense |
probably benign |
0.00 |
PIT4362001:Med23
|
UTSW |
10 |
24874571 |
missense |
probably benign |
0.01 |
R0080:Med23
|
UTSW |
10 |
24912817 |
missense |
probably benign |
0.33 |
R0125:Med23
|
UTSW |
10 |
24900788 |
missense |
probably damaging |
1.00 |
R0311:Med23
|
UTSW |
10 |
24897358 |
missense |
possibly damaging |
0.95 |
R0765:Med23
|
UTSW |
10 |
24900710 |
missense |
probably damaging |
1.00 |
R1302:Med23
|
UTSW |
10 |
24888422 |
splice site |
probably null |
|
R1456:Med23
|
UTSW |
10 |
24903652 |
splice site |
probably benign |
|
R1514:Med23
|
UTSW |
10 |
24892667 |
splice site |
probably benign |
|
R1774:Med23
|
UTSW |
10 |
24903686 |
missense |
probably damaging |
1.00 |
R1851:Med23
|
UTSW |
10 |
24910870 |
splice site |
probably null |
|
R1928:Med23
|
UTSW |
10 |
24909812 |
missense |
probably benign |
|
R1975:Med23
|
UTSW |
10 |
24910766 |
missense |
probably benign |
0.01 |
R2011:Med23
|
UTSW |
10 |
24879755 |
missense |
possibly damaging |
0.63 |
R2266:Med23
|
UTSW |
10 |
24874601 |
missense |
probably benign |
0.00 |
R2309:Med23
|
UTSW |
10 |
24870688 |
missense |
probably damaging |
0.99 |
R2507:Med23
|
UTSW |
10 |
24910813 |
missense |
probably damaging |
1.00 |
R2566:Med23
|
UTSW |
10 |
24888575 |
missense |
probably damaging |
1.00 |
R3720:Med23
|
UTSW |
10 |
24891120 |
missense |
probably damaging |
1.00 |
R3771:Med23
|
UTSW |
10 |
24902201 |
missense |
probably damaging |
1.00 |
R3811:Med23
|
UTSW |
10 |
24892592 |
nonsense |
probably null |
|
R3811:Med23
|
UTSW |
10 |
24892593 |
splice site |
probably null |
|
R4305:Med23
|
UTSW |
10 |
24904270 |
nonsense |
probably null |
|
R4323:Med23
|
UTSW |
10 |
24870705 |
missense |
probably benign |
0.02 |
R4701:Med23
|
UTSW |
10 |
24893648 |
missense |
probably damaging |
1.00 |
R4886:Med23
|
UTSW |
10 |
24874683 |
critical splice donor site |
probably null |
|
R4925:Med23
|
UTSW |
10 |
24910747 |
missense |
probably damaging |
1.00 |
R4943:Med23
|
UTSW |
10 |
24875669 |
missense |
possibly damaging |
0.92 |
R5207:Med23
|
UTSW |
10 |
24895836 |
nonsense |
probably null |
|
R5749:Med23
|
UTSW |
10 |
24888449 |
missense |
possibly damaging |
0.84 |
R5806:Med23
|
UTSW |
10 |
24907221 |
missense |
probably damaging |
1.00 |
R5896:Med23
|
UTSW |
10 |
24902145 |
missense |
probably damaging |
1.00 |
R5954:Med23
|
UTSW |
10 |
24870483 |
splice site |
probably benign |
|
R6031:Med23
|
UTSW |
10 |
24903748 |
nonsense |
probably null |
|
R6031:Med23
|
UTSW |
10 |
24903748 |
nonsense |
probably null |
|
R6093:Med23
|
UTSW |
10 |
24878443 |
missense |
probably benign |
0.16 |
R6107:Med23
|
UTSW |
10 |
24906034 |
nonsense |
probably null |
|
R6356:Med23
|
UTSW |
10 |
24888413 |
missense |
probably damaging |
0.98 |
R6393:Med23
|
UTSW |
10 |
24873476 |
missense |
possibly damaging |
0.91 |
R6533:Med23
|
UTSW |
10 |
24893620 |
missense |
probably damaging |
1.00 |
R6911:Med23
|
UTSW |
10 |
24902181 |
missense |
probably damaging |
0.98 |
R6981:Med23
|
UTSW |
10 |
24895824 |
missense |
possibly damaging |
0.92 |
R7085:Med23
|
UTSW |
10 |
24870121 |
missense |
probably damaging |
1.00 |
R7215:Med23
|
UTSW |
10 |
24888429 |
missense |
probably benign |
|
R7229:Med23
|
UTSW |
10 |
24902004 |
missense |
probably benign |
|
R7489:Med23
|
UTSW |
10 |
24904356 |
missense |
probably damaging |
1.00 |
R7530:Med23
|
UTSW |
10 |
24905953 |
missense |
probably benign |
0.00 |
R7643:Med23
|
UTSW |
10 |
24905965 |
missense |
probably benign |
0.01 |
R7653:Med23
|
UTSW |
10 |
24904384 |
missense |
probably damaging |
1.00 |
R7764:Med23
|
UTSW |
10 |
24909920 |
critical splice donor site |
probably null |
|
R7784:Med23
|
UTSW |
10 |
24902448 |
missense |
probably damaging |
1.00 |
R8024:Med23
|
UTSW |
10 |
24879683 |
missense |
possibly damaging |
0.74 |
R8182:Med23
|
UTSW |
10 |
24912807 |
missense |
probably benign |
|
R8412:Med23
|
UTSW |
10 |
24908734 |
missense |
probably benign |
0.01 |
R8874:Med23
|
UTSW |
10 |
24895719 |
missense |
possibly damaging |
0.92 |
R8975:Med23
|
UTSW |
10 |
24904436 |
missense |
probably benign |
0.42 |
R9131:Med23
|
UTSW |
10 |
24904381 |
missense |
|
|
R9202:Med23
|
UTSW |
10 |
24904304 |
missense |
probably benign |
0.12 |
R9341:Med23
|
UTSW |
10 |
24912807 |
missense |
probably benign |
|
R9342:Med23
|
UTSW |
10 |
24874571 |
missense |
probably benign |
0.01 |
R9343:Med23
|
UTSW |
10 |
24912807 |
missense |
probably benign |
|
R9412:Med23
|
UTSW |
10 |
24902121 |
missense |
probably damaging |
1.00 |
RF003:Med23
|
UTSW |
10 |
24903785 |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |