Incidental Mutation 'R5806:Med23'
| ID |
448521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med23
|
| Ensembl Gene |
ENSMUSG00000019984 |
| Gene Name |
mediator complex subunit 23 |
| Synonyms |
X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2 |
| MMRRC Submission |
043392-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5806 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
24869986-24913681 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24907221 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 734
(D734G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020159
AA Change: D1094G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: D1094G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092646
AA Change: D1100G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: D1100G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176285
AA Change: D734G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: D734G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184228
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,240,872 |
M216T |
probably benign |
Het |
| Abhd4 |
A |
G |
14: 54,261,690 |
N36D |
probably benign |
Het |
| Ankra2 |
T |
C |
13: 98,268,497 |
|
probably null |
Het |
| Btd |
A |
G |
14: 31,667,512 |
T397A |
probably benign |
Het |
| Ccbe1 |
T |
A |
18: 66,076,355 |
K205* |
probably null |
Het |
| Clspn |
A |
G |
4: 126,586,106 |
K1081E |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,093,937 |
S1548P |
possibly damaging |
Het |
| Coq8b |
T |
A |
7: 27,250,625 |
Y376* |
probably null |
Het |
| Cpxm1 |
C |
A |
2: 130,397,473 |
A12S |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,461,268 |
T68A |
probably damaging |
Het |
| Cyp2a12 |
T |
A |
7: 27,029,079 |
|
probably null |
Het |
| Ddx46 |
A |
G |
13: 55,663,337 |
Q582R |
possibly damaging |
Het |
| Ddx55 |
A |
G |
5: 124,559,199 |
E208G |
probably damaging |
Het |
| Dync1h1 |
A |
T |
12: 110,651,653 |
T3209S |
probably damaging |
Het |
| Dyx1c1 |
T |
C |
9: 72,962,054 |
L182P |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,755,554 |
L393* |
probably null |
Het |
| Ern1 |
G |
C |
11: 106,398,705 |
S924C |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,448,848 |
I1249T |
probably damaging |
Het |
| Fgfbp3 |
T |
G |
19: 36,918,549 |
D223A |
probably damaging |
Het |
| Frmd6 |
T |
C |
12: 70,890,020 |
L313P |
probably damaging |
Het |
| Galnt17 |
A |
G |
5: 130,877,819 |
Y504H |
probably damaging |
Het |
| Gjb5 |
A |
G |
4: 127,355,925 |
I142T |
probably benign |
Het |
| Gvin1 |
T |
C |
7: 106,158,206 |
D2352G |
probably benign |
Het |
| H2-M2 |
G |
A |
17: 37,481,726 |
T218I |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,490,984 |
T161A |
probably damaging |
Het |
| Helb |
G |
A |
10: 120,092,519 |
R806C |
probably damaging |
Het |
| Ift80 |
T |
A |
3: 68,950,476 |
I279F |
probably benign |
Het |
| Itln1 |
A |
T |
1: 171,531,152 |
I149N |
possibly damaging |
Het |
| Kcnt2 |
A |
C |
1: 140,509,496 |
T556P |
probably damaging |
Het |
| Klk1b22 |
A |
T |
7: 44,115,877 |
E84D |
possibly damaging |
Het |
| Krt78 |
A |
G |
15: 101,950,502 |
L305P |
probably damaging |
Het |
| Lzts2 |
T |
C |
19: 45,026,367 |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,371,887 |
L6843P |
probably damaging |
Het |
| Magi2 |
C |
A |
5: 20,651,204 |
H841Q |
probably benign |
Het |
| Mdm1 |
A |
T |
10: 118,166,658 |
H628L |
probably benign |
Het |
| Mfsd13a |
T |
C |
19: 46,366,410 |
W9R |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,704,605 |
H576R |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,862,835 |
T3173A |
possibly damaging |
Het |
| Mx1 |
A |
T |
16: 97,454,151 |
V234E |
possibly damaging |
Het |
| Myh2 |
T |
C |
11: 67,181,315 |
L623P |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,444,735 |
M1I |
probably null |
Het |
| Ncapd2 |
A |
T |
6: 125,181,154 |
V337E |
probably damaging |
Het |
| Nit2 |
G |
A |
16: 57,161,693 |
T64M |
possibly damaging |
Het |
| Olfr1195 |
T |
C |
2: 88,683,151 |
N194D |
probably damaging |
Het |
| Olfr394 |
A |
T |
11: 73,887,547 |
M275K |
probably damaging |
Het |
| Olfr49 |
A |
T |
14: 54,282,807 |
F29L |
probably benign |
Het |
| Otub2 |
A |
G |
12: 103,403,397 |
E245G |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,042,040 |
K524R |
probably damaging |
Het |
| Pih1d2 |
C |
T |
9: 50,618,450 |
|
probably benign |
Het |
| Pik3cg |
T |
A |
12: 32,204,953 |
D345V |
possibly damaging |
Het |
| Plekhg4 |
A |
T |
8: 105,378,910 |
Q669L |
possibly damaging |
Het |
| Prlr |
A |
T |
15: 10,319,204 |
Y73F |
probably damaging |
Het |
| Ptk6 |
T |
C |
2: 181,199,730 |
I129V |
possibly damaging |
Het |
| Ranbp3 |
A |
T |
17: 56,710,717 |
T458S |
probably benign |
Het |
| Ren1 |
T |
A |
1: 133,355,511 |
Y128* |
probably null |
Het |
| Rimkla |
A |
T |
4: 119,468,466 |
S249T |
probably damaging |
Het |
| Rnf222 |
T |
C |
11: 68,892,963 |
S119P |
possibly damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,963,331 |
E1007V |
probably benign |
Het |
| Sept11 |
G |
A |
5: 93,167,578 |
E389K |
probably benign |
Het |
| Setbp1 |
A |
G |
18: 78,856,482 |
|
probably null |
Het |
| Slc25a54 |
T |
C |
3: 109,080,578 |
S12P |
probably benign |
Het |
| Slc26a5 |
A |
C |
5: 21,823,563 |
F336V |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,040,770 |
T254A |
probably damaging |
Het |
| Smcr8 |
G |
T |
11: 60,780,382 |
|
probably null |
Het |
| Srcap |
A |
T |
7: 127,559,163 |
|
probably benign |
Het |
| Srrt |
A |
T |
5: 137,297,917 |
I509N |
probably damaging |
Het |
| Tcf25 |
T |
A |
8: 123,381,504 |
H99Q |
probably benign |
Het |
| Tmem40 |
A |
G |
6: 115,736,412 |
V76A |
probably benign |
Het |
| Tnni3k |
A |
T |
3: 154,827,611 |
S740T |
possibly damaging |
Het |
| Top3a |
A |
G |
11: 60,776,920 |
|
probably null |
Het |
| Tpd52l2 |
C |
A |
2: 181,502,887 |
T109K |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 105,837,496 |
D109E |
possibly damaging |
Het |
| Uty |
G |
T |
Y: 1,170,921 |
D313E |
probably damaging |
Het |
| Zfp143 |
A |
T |
7: 110,086,235 |
K423* |
probably null |
Het |
| Zfp407 |
C |
T |
18: 84,558,614 |
G1458D |
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 |
|
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 |
|
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'- CTTCTTGACAGCCTATAATCAGATC -3'
(R):5'- TACCCACAGCGCTCACTTTG -3'
Sequencing Primer
(F):5'- TGACAGCCTATAATCAGATCAGTTG -3'
(R):5'- AGGTCTGCCTGACAGCAAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation