Incidental Mutation 'R2309:Med23'
| ID |
244711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med23
|
| Ensembl Gene |
ENSMUSG00000019984 |
| Gene Name |
mediator complex subunit 23 |
| Synonyms |
X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2 |
| MMRRC Submission |
040308-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2309 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
24869986-24913681 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 24870688 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 35
(D35E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176313]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020159
AA Change: D35E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: D35E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092646
AA Change: D35E
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: D35E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176313
AA Change: D8E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135751
Gene: ENSMUSG00000019984
AA Change: D8E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
1 |
197 |
1.7e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176827
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177175
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177232
AA Change: D35E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134866
Gene: ENSMUSG00000019984
AA Change: D35E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
58 |
1.2e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177522
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
G |
T |
6: 86,096,801 |
C224F |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,624,765 |
I837M |
probably damaging |
Het |
| Baat |
T |
C |
4: 49,499,718 |
Y196C |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,414,275 |
N114S |
probably benign |
Het |
| Cldn24 |
T |
G |
8: 47,822,739 |
Y199* |
probably null |
Het |
| Il1rl1 |
A |
G |
1: 40,442,657 |
D175G |
possibly damaging |
Het |
| Kcnh8 |
T |
A |
17: 52,978,039 |
D1012E |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,893,008 |
R60C |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,626,570 |
D2512G |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 55,827,004 |
D246V |
probably damaging |
Het |
| Nlrp9c |
C |
A |
7: 26,378,087 |
V757F |
probably damaging |
Het |
| Olfr1120 |
T |
C |
2: 87,357,954 |
F170S |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,442,626 |
|
probably benign |
Het |
| Qsox2 |
T |
C |
2: 26,228,433 |
I109V |
possibly damaging |
Het |
| Rnf17 |
A |
G |
14: 56,505,982 |
K1335R |
possibly damaging |
Het |
| Serpina6 |
A |
G |
12: 103,654,179 |
Y104H |
probably benign |
Het |
| Serpini2 |
A |
G |
3: 75,259,690 |
S87P |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,158,904 |
V1981M |
probably damaging |
Het |
| Sgpp2 |
T |
C |
1: 78,417,349 |
F330L |
probably damaging |
Het |
| Slc6a6 |
G |
C |
6: 91,726,196 |
W183C |
possibly damaging |
Het |
| Ttll9 |
A |
G |
2: 152,984,145 |
K81E |
probably damaging |
Het |
| Ulbp1 |
G |
A |
10: 7,447,388 |
T239I |
probably benign |
Het |
| Vmn1r230 |
A |
G |
17: 20,847,230 |
H227R |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 54,643,248 |
F1029I |
probably benign |
Het |
|
| Other mutations in Med23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00670:Med23
|
APN |
10 |
24888584 |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGTATGTGGCAGGCAGATC -3'
(R):5'- ACACAGGTTCTCCAGTAAGTAC -3'
Sequencing Primer
(F):5'- ATGTGGCAGGCAGATCTTTGTG -3'
(R):5'- CAGGTTCTCCAGTAAGTACATTTAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation