Incidental Mutation 'IGL02381:Med23'
| ID |
291372 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Med23
|
| Ensembl Gene |
ENSMUSG00000019984 |
| Gene Name |
mediator complex subunit 23 |
| Synonyms |
ESTM7, 3000002A17Rik, X83317, Sur2, Crsp3, sno |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02381
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24776626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 713
(T713A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020159
(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: T713A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: T713A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092646
AA Change: T719A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: T719A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176285
AA Change: T353A
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: T353A
| 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,904,413 (GRCm39) |
I126F |
probably damaging |
Het |
| Antxrl |
T |
G |
14: 33,778,568 (GRCm39) |
|
probably null |
Het |
| Arsa |
A |
T |
15: 89,359,740 (GRCm39) |
Y62* |
probably null |
Het |
| Atg2b |
C |
A |
12: 105,614,607 (GRCm39) |
C1108F |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,863,338 (GRCm39) |
Q651R |
probably benign |
Het |
| Atxn7l2 |
A |
G |
3: 108,111,811 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
A |
G |
X: 7,482,307 (GRCm39) |
D597G |
probably damaging |
Het |
| Capn12 |
T |
C |
7: 28,585,880 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
A |
T |
6: 76,931,766 (GRCm39) |
D624E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,337,118 (GRCm39) |
E3274G |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,316,280 (GRCm39) |
N3131I |
probably damaging |
Het |
| Fam3a |
C |
T |
X: 73,430,690 (GRCm39) |
G112E |
probably damaging |
Het |
| Focad |
T |
G |
4: 88,192,327 (GRCm39) |
|
probably benign |
Het |
| Fyb2 |
G |
A |
4: 104,805,863 (GRCm39) |
|
probably benign |
Het |
| Htt |
C |
T |
5: 34,987,104 (GRCm39) |
P1108S |
probably benign |
Het |
| Ift80 |
A |
T |
3: 68,869,653 (GRCm39) |
|
probably null |
Het |
| Insc |
T |
C |
7: 114,449,177 (GRCm39) |
*533Q |
probably null |
Het |
| Itga2 |
A |
G |
13: 114,993,258 (GRCm39) |
C786R |
probably damaging |
Het |
| Lman2 |
A |
G |
13: 55,499,282 (GRCm39) |
W198R |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,536,156 (GRCm39) |
M520K |
probably benign |
Het |
| Mvd |
C |
A |
8: 123,163,894 (GRCm39) |
G252V |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,894,737 (GRCm39) |
V340E |
probably damaging |
Het |
| Necab1 |
A |
G |
4: 15,148,812 (GRCm39) |
|
probably null |
Het |
| Noxred1 |
T |
C |
12: 87,271,776 (GRCm39) |
D131G |
probably damaging |
Het |
| P2ry4 |
C |
A |
X: 99,637,807 (GRCm39) |
K30N |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,277,320 (GRCm39) |
V100D |
possibly damaging |
Het |
| Piezo1 |
C |
A |
8: 123,225,283 (GRCm39) |
R571L |
probably benign |
Het |
| Pkd1l2 |
C |
T |
8: 117,762,539 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,370,034 (GRCm39) |
T32A |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,697,342 (GRCm39) |
V613A |
possibly damaging |
Het |
| Rp1 |
A |
G |
1: 4,422,613 (GRCm39) |
S156P |
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,569,594 (GRCm39) |
D48E |
probably damaging |
Het |
| Shisal1 |
A |
G |
15: 84,290,654 (GRCm39) |
S218P |
probably damaging |
Het |
| Slc29a4 |
T |
C |
5: 142,705,854 (GRCm39) |
V446A |
probably benign |
Het |
| Sppl3 |
C |
T |
5: 115,212,969 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,599,982 (GRCm39) |
E19064G |
probably damaging |
Het |
| Vps35l |
A |
G |
7: 118,374,598 (GRCm39) |
Y342C |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation