Incidental Mutation 'R6533:Med23'
| ID |
520205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med23
|
| Ensembl Gene |
ENSMUSG00000019984 |
| Gene Name |
mediator complex subunit 23 |
| Synonyms |
X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2 |
| MMRRC Submission |
044659-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6533 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
24869986-24913681 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24893620 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 101
(L101P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135232
(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: L461P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: L461P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092646
AA Change: L467P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: L467P
| 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: L101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: L101P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
1 |
51 |
4.4e-14 |
PFAM |
|
Pfam:Med23
|
48 |
950 |
N/A |
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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179967
|
| Meta Mutation Damage Score |
0.9636 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010B08Rik |
C |
T |
2: 173,719,835 (GRCm38) |
|
probably benign |
Het |
| 4932414N04Rik |
G |
T |
2: 68,716,318 (GRCm38) |
E115* |
probably null |
Het |
| Abhd16a |
G |
A |
17: 35,098,809 (GRCm38) |
|
probably null |
Het |
| Ankrd28 |
T |
A |
14: 31,732,084 (GRCm38) |
I244L |
possibly damaging |
Het |
| Barx2 |
T |
C |
9: 31,912,979 (GRCm38) |
Y38C |
probably damaging |
Het |
| Btn2a2 |
C |
A |
13: 23,481,781 (GRCm38) |
E294* |
probably null |
Het |
| Ceacam2 |
C |
G |
7: 25,530,711 (GRCm38) |
V157L |
probably benign |
Het |
| Ces2c |
T |
A |
8: 104,852,093 (GRCm38) |
F334L |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,961,358 (GRCm38) |
I958T |
unknown |
Het |
| Cyhr1 |
C |
A |
15: 76,647,730 (GRCm38) |
E283* |
probably null |
Het |
| Dcp2 |
T |
A |
18: 44,399,664 (GRCm38) |
D82E |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,746,990 (GRCm38) |
L2432S |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,303,509 (GRCm38) |
D7582G |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,998,899 (GRCm38) |
I1936L |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,892,060 (GRCm38) |
N396I |
probably damaging |
Het |
| Lonrf2 |
A |
C |
1: 38,813,268 (GRCm38) |
D167E |
probably benign |
Het |
| Marf1 |
T |
C |
16: 14,115,799 (GRCm38) |
D1575G |
probably benign |
Het |
| Myh3 |
A |
G |
11: 67,090,419 (GRCm38) |
I703V |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,096,357 (GRCm38) |
A1257V |
probably benign |
Het |
| Nipal4 |
A |
T |
11: 46,150,407 (GRCm38) |
Y320* |
probably null |
Het |
| Obox5 |
A |
T |
7: 15,757,607 (GRCm38) |
Q24L |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,597,447 (GRCm38) |
S345P |
probably benign |
Het |
| P4hb |
A |
T |
11: 120,571,643 (GRCm38) |
I79N |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,806,318 (GRCm38) |
I1262N |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,022,697 (GRCm38) |
N291K |
probably benign |
Het |
| Ppargc1b |
C |
T |
18: 61,307,774 (GRCm38) |
R691H |
possibly damaging |
Het |
| Ppm1m |
T |
C |
9: 106,196,870 (GRCm38) |
|
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,128,528 (GRCm38) |
D500E |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 185,232,954 (GRCm38) |
|
probably null |
Het |
| Rnf214 |
A |
G |
9: 45,900,063 (GRCm38) |
S101P |
probably benign |
Het |
| Sdhc |
A |
G |
1: 171,129,827 (GRCm38) |
S162P |
possibly damaging |
Het |
| Spta1 |
C |
T |
1: 174,244,147 (GRCm38) |
T2231I |
probably damaging |
Het |
| Stxbp2 |
T |
A |
8: 3,642,683 (GRCm38) |
D578E |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,622,837 (GRCm38) |
E417D |
possibly damaging |
Het |
| Tas2r144 |
A |
T |
6: 42,215,346 (GRCm38) |
N7Y |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,834,357 (GRCm38) |
*421R |
probably null |
Het |
| Tigd5 |
A |
G |
15: 75,910,190 (GRCm38) |
I134V |
possibly damaging |
Het |
| Tmem95 |
A |
T |
11: 69,878,017 (GRCm38) |
M1K |
probably null |
Het |
| Trappc10 |
T |
C |
10: 78,188,894 (GRCm38) |
M1134V |
probably damaging |
Het |
| Unc45a |
T |
G |
7: 80,334,069 (GRCm38) |
K326N |
probably damaging |
Het |
| Vmn1r59 |
A |
G |
7: 5,454,464 (GRCm38) |
V99A |
probably benign |
Het |
| Vmn2r4 |
T |
C |
3: 64,415,098 (GRCm38) |
T67A |
probably benign |
Het |
| Vmn2r85 |
A |
T |
10: 130,426,660 (GRCm38) |
M70K |
probably benign |
Het |
| Zkscan8 |
A |
G |
13: 21,520,578 (GRCm38) |
F325S |
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 |
|
IGL01469:Med23
|
APN |
10 |
24,882,597 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGCCATCTGCAATATTACC -3'
(R):5'- CAGTGAATCCAGGAGGTTCATC -3'
Sequencing Primer
(F):5'- TTACCCAAGCTTTAATAGGTACAGCC -3'
(R):5'- GTCACTGATGCTGAGGCCAAAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation