Incidental Mutation 'R7643:Med23'
| ID |
590362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med23
|
| Ensembl Gene |
ENSMUSG00000019984 |
| Gene Name |
mediator complex subunit 23 |
| Synonyms |
X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2 |
| MMRRC Submission |
045700-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7643 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
24869986-24913681 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24905965 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1056
(T1056A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020159
AA Change: T1050A
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: T1050A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092646
AA Change: T1056A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: T1056A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176285
AA Change: T690A
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: T690A
| 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: ENSMUST00000177232
|
| SMART Domains |
Protein: ENSMUSP00000134866
Gene: ENSMUSG00000019984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
58 |
1.2e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930435E12Rik |
A |
G |
16: 38,827,863 (GRCm38) |
Y295H |
probably benign |
Het |
| 4931406C07Rik |
A |
G |
9: 15,297,860 (GRCm38) |
F46S |
probably damaging |
Het |
| Acaca |
T |
C |
11: 84,338,356 (GRCm38) |
Y1670H |
probably damaging |
Het |
| Acrbp |
G |
A |
6: 125,053,832 (GRCm38) |
R272Q |
possibly damaging |
Het |
| Adcy6 |
T |
A |
15: 98,593,568 (GRCm38) |
Q1050L |
probably benign |
Het |
| Amn1 |
C |
T |
6: 149,185,031 (GRCm38) |
M44I |
probably benign |
Het |
| Ankrd13b |
A |
G |
11: 77,473,085 (GRCm38) |
V395A |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,477,072 (GRCm38) |
K310R |
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,506,574 (GRCm38) |
D123G |
probably benign |
Het |
| Bst1 |
G |
A |
5: 43,840,449 (GRCm38) |
M263I |
probably benign |
Het |
| Ccdc7a |
C |
T |
8: 128,889,811 (GRCm38) |
G937E |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,537,553 (GRCm38) |
M1232V |
probably benign |
Het |
| Cfhr1 |
A |
G |
1: 139,553,585 (GRCm38) |
Y186H |
possibly damaging |
Het |
| Dnah7c |
A |
T |
1: 46,602,813 (GRCm38) |
H1203L |
probably benign |
Het |
| Emc7 |
A |
G |
2: 112,455,279 (GRCm38) |
E71G |
probably benign |
Het |
| Exoc3l4 |
G |
A |
12: 111,421,935 (GRCm38) |
|
probably benign |
Het |
| Fam83c |
A |
G |
2: 155,831,004 (GRCm38) |
F278L |
possibly damaging |
Het |
| Gabpb2 |
C |
A |
3: 95,200,225 (GRCm38) |
V180L |
probably benign |
Het |
| Gbp2b |
G |
T |
3: 142,603,609 (GRCm38) |
Q160H |
probably benign |
Het |
| Gm19965 |
C |
G |
1: 116,822,229 (GRCm38) |
Q547E |
unknown |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 142,240,713 (GRCm38) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,902,807 (GRCm38) |
D1774E |
probably damaging |
Het |
| Gpr15 |
A |
C |
16: 58,717,816 (GRCm38) |
Y303* |
probably null |
Het |
| Greb1 |
T |
C |
12: 16,711,996 (GRCm38) |
D461G |
probably damaging |
Het |
| Gria4 |
T |
C |
9: 4,793,950 (GRCm38) |
N36S |
probably benign |
Het |
| Hacd1 |
T |
C |
2: 14,044,791 (GRCm38) |
I119V |
probably damaging |
Het |
| Ing5 |
T |
A |
1: 93,812,433 (GRCm38) |
D101E |
probably damaging |
Het |
| Irak4 |
T |
A |
15: 94,558,828 (GRCm38) |
N297K |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,953,501 (GRCm38) |
D971G |
probably benign |
Het |
| Klf5 |
A |
G |
14: 99,313,178 (GRCm38) |
E397G |
possibly damaging |
Het |
| Krtap29-1 |
C |
T |
11: 99,978,198 (GRCm38) |
G286S |
probably damaging |
Het |
| Lrp2bp |
A |
T |
8: 46,020,527 (GRCm38) |
|
probably null |
Het |
| March4 |
T |
G |
1: 72,447,220 (GRCm38) |
Q266H |
probably damaging |
Het |
| Megf11 |
T |
C |
9: 64,706,632 (GRCm38) |
L1079P |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,346,265 (GRCm38) |
L85I |
probably benign |
Het |
| Nlgn2 |
G |
T |
11: 69,827,885 (GRCm38) |
Q290K |
probably damaging |
Het |
| Nox4 |
A |
T |
7: 87,323,754 (GRCm38) |
E323V |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 94,286,619 (GRCm38) |
|
probably null |
Het |
| Olfr298 |
C |
T |
7: 86,489,568 (GRCm38) |
|
probably null |
Het |
| Olfr558 |
C |
T |
7: 102,709,538 (GRCm38) |
T93I |
probably benign |
Het |
| Olfr977-ps1 |
T |
A |
9: 39,974,821 (GRCm38) |
M1L |
unknown |
Het |
| Otop3 |
T |
C |
11: 115,339,648 (GRCm38) |
L117P |
probably damaging |
Het |
| Pde6c |
C |
A |
19: 38,141,421 (GRCm38) |
Q260K |
probably damaging |
Het |
| Plb1 |
C |
T |
5: 32,247,557 (GRCm38) |
Q20* |
probably null |
Het |
| Qser1 |
A |
T |
2: 104,786,977 (GRCm38) |
Y1163* |
probably null |
Het |
| Rbm12 |
A |
T |
2: 156,098,217 (GRCm38) |
I45N |
unknown |
Het |
| Rictor |
T |
A |
15: 6,769,269 (GRCm38) |
Y332* |
probably null |
Het |
| Rpp14 |
C |
A |
14: 8,090,325 (GRCm38) |
S83* |
probably null |
Het |
| Sel1l3 |
C |
T |
5: 53,123,162 (GRCm38) |
|
probably null |
Het |
| Setd2 |
T |
C |
9: 110,567,840 (GRCm38) |
|
probably null |
Het |
| Spink5 |
A |
G |
18: 44,010,252 (GRCm38) |
T759A |
probably benign |
Het |
| Spon2 |
T |
A |
5: 33,217,456 (GRCm38) |
E2V |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,837,708 (GRCm38) |
S144P |
probably damaging |
Het |
| Tex15 |
A |
C |
8: 33,575,120 (GRCm38) |
Y1526S |
probably damaging |
Het |
| Tnfrsf21 |
T |
C |
17: 43,037,916 (GRCm38) |
S140P |
probably benign |
Het |
| Trav6-2 |
T |
A |
14: 52,667,442 (GRCm38) |
M11K |
probably benign |
Het |
| Trp53bp1 |
G |
T |
2: 121,247,814 (GRCm38) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,734,827 (GRCm38) |
N28352S |
possibly damaging |
Het |
| Uckl1 |
T |
C |
2: 181,573,106 (GRCm38) |
I292V |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,216,333 (GRCm38) |
S211T |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,808,293 (GRCm38) |
I313T |
possibly damaging |
Het |
| Zfp106 |
C |
T |
2: 120,512,734 (GRCm38) |
R1811K |
probably benign |
Het |
| Zfp599 |
G |
T |
9: 22,249,892 (GRCm38) |
Q326K |
probably benign |
Het |
| Zscan4e |
A |
T |
7: 11,309,525 (GRCm38) |
M108K |
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 |
|
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 |
|
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'- ATAAACACGCTGAGCTGTTTTCTTC -3'
(R):5'- AAGGTTGGCCTAAGCAACTC -3'
Sequencing Primer
(F):5'- TCTTCTTGACAGACCGGCCAG -3'
(R):5'- AAGAACATTACCTTAAAAACCGCTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation