Incidental Mutation 'R5806:Med23'
| ID |
448521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med23
|
| Ensembl Gene |
ENSMUSG00000019984 |
| Gene Name |
mediator complex subunit 23 |
| Synonyms |
ESTM7, 3000002A17Rik, X83317, Sur2, Crsp3, sno |
| 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 |
24745889-24789358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24783119 bp (GRCm39)
|
| 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: 99,388,731 (GRCm39) |
M216T |
probably benign |
Het |
| Abhd4 |
A |
G |
14: 54,499,147 (GRCm39) |
N36D |
probably benign |
Het |
| Ankra2 |
T |
C |
13: 98,405,005 (GRCm39) |
|
probably null |
Het |
| Btd |
A |
G |
14: 31,389,469 (GRCm39) |
T397A |
probably benign |
Het |
| Ccbe1 |
T |
A |
18: 66,209,426 (GRCm39) |
K205* |
probably null |
Het |
| Clspn |
A |
G |
4: 126,479,899 (GRCm39) |
K1081E |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,445 (GRCm39) |
S1548P |
possibly damaging |
Het |
| Coq8b |
T |
A |
7: 26,950,050 (GRCm39) |
Y376* |
probably null |
Het |
| Cpxm1 |
C |
A |
2: 130,239,393 (GRCm39) |
A12S |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,015,005 (GRCm39) |
T68A |
probably damaging |
Het |
| Cyp2a12 |
T |
A |
7: 26,728,504 (GRCm39) |
|
probably null |
Het |
| Ddx46 |
A |
G |
13: 55,811,150 (GRCm39) |
Q582R |
possibly damaging |
Het |
| Ddx55 |
A |
G |
5: 124,697,262 (GRCm39) |
E208G |
probably damaging |
Het |
| Dnaaf4 |
T |
C |
9: 72,869,336 (GRCm39) |
L182P |
probably benign |
Het |
| Dync1h1 |
A |
T |
12: 110,618,087 (GRCm39) |
T3209S |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,903,420 (GRCm39) |
L393* |
probably null |
Het |
| Ern1 |
G |
C |
11: 106,289,531 (GRCm39) |
S924C |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,098,596 (GRCm39) |
I1249T |
probably damaging |
Het |
| Fgfbp3 |
T |
G |
19: 36,895,949 (GRCm39) |
D223A |
probably damaging |
Het |
| Frmd6 |
T |
C |
12: 70,936,794 (GRCm39) |
L313P |
probably damaging |
Het |
| Galnt17 |
A |
G |
5: 130,906,657 (GRCm39) |
Y504H |
probably damaging |
Het |
| Gjb5 |
A |
G |
4: 127,249,718 (GRCm39) |
I142T |
probably benign |
Het |
| Gvin1 |
T |
C |
7: 105,757,413 (GRCm39) |
D2352G |
probably benign |
Het |
| H2-M2 |
G |
A |
17: 37,792,617 (GRCm39) |
T218I |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,326,846 (GRCm39) |
T161A |
probably damaging |
Het |
| Helb |
G |
A |
10: 119,928,424 (GRCm39) |
R806C |
probably damaging |
Het |
| Ift80 |
T |
A |
3: 68,857,809 (GRCm39) |
I279F |
probably benign |
Het |
| Itln1 |
A |
T |
1: 171,358,720 (GRCm39) |
I149N |
possibly damaging |
Het |
| Kcnt2 |
A |
C |
1: 140,437,234 (GRCm39) |
T556P |
probably damaging |
Het |
| Klk1b22 |
A |
T |
7: 43,765,301 (GRCm39) |
E84D |
possibly damaging |
Het |
| Krt78 |
A |
G |
15: 101,858,937 (GRCm39) |
L305P |
probably damaging |
Het |
| Lzts2 |
T |
C |
19: 45,014,806 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,265,680 (GRCm39) |
L6843P |
probably damaging |
Het |
| Magi2 |
C |
A |
5: 20,856,202 (GRCm39) |
H841Q |
probably benign |
Het |
| Mdm1 |
A |
T |
10: 118,002,563 (GRCm39) |
H628L |
probably benign |
Het |
| Mfsd13a |
T |
C |
19: 46,354,849 (GRCm39) |
W9R |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,306,334 (GRCm39) |
H576R |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,572 (GRCm39) |
T3173A |
possibly damaging |
Het |
| Mx1 |
A |
T |
16: 97,255,351 (GRCm39) |
V234E |
possibly damaging |
Het |
| Myh2 |
T |
C |
11: 67,072,141 (GRCm39) |
L623P |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,581,243 (GRCm39) |
M1I |
probably null |
Het |
| Ncapd2 |
A |
T |
6: 125,158,117 (GRCm39) |
V337E |
probably damaging |
Het |
| Nit2 |
G |
A |
16: 56,982,056 (GRCm39) |
T64M |
possibly damaging |
Het |
| Or1e34 |
A |
T |
11: 73,778,373 (GRCm39) |
M275K |
probably damaging |
Het |
| Or4c103 |
T |
C |
2: 88,513,495 (GRCm39) |
N194D |
probably damaging |
Het |
| Or6e1 |
A |
T |
14: 54,520,264 (GRCm39) |
F29L |
probably benign |
Het |
| Otub2 |
A |
G |
12: 103,369,656 (GRCm39) |
E245G |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,178,548 (GRCm39) |
K524R |
probably damaging |
Het |
| Pih1d2 |
C |
T |
9: 50,529,750 (GRCm39) |
|
probably benign |
Het |
| Pik3cg |
T |
A |
12: 32,254,952 (GRCm39) |
D345V |
possibly damaging |
Het |
| Plekhg4 |
A |
T |
8: 106,105,542 (GRCm39) |
Q669L |
possibly damaging |
Het |
| Prlr |
A |
T |
15: 10,319,290 (GRCm39) |
Y73F |
probably damaging |
Het |
| Ptk6 |
T |
C |
2: 180,841,523 (GRCm39) |
I129V |
possibly damaging |
Het |
| Ranbp3 |
A |
T |
17: 57,017,717 (GRCm39) |
T458S |
probably benign |
Het |
| Ren1 |
T |
A |
1: 133,283,249 (GRCm39) |
Y128* |
probably null |
Het |
| Rimkla |
A |
T |
4: 119,325,663 (GRCm39) |
S249T |
probably damaging |
Het |
| Rnf222 |
T |
C |
11: 68,783,789 (GRCm39) |
S119P |
possibly damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,805,251 (GRCm39) |
E1007V |
probably benign |
Het |
| Septin11 |
G |
A |
5: 93,315,437 (GRCm39) |
E389K |
probably benign |
Het |
| Setbp1 |
A |
G |
18: 78,899,697 (GRCm39) |
|
probably null |
Het |
| Slc25a54 |
T |
C |
3: 108,987,894 (GRCm39) |
S12P |
probably benign |
Het |
| Slc26a5 |
A |
C |
5: 22,028,561 (GRCm39) |
F336V |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,198,114 (GRCm39) |
T254A |
probably damaging |
Het |
| Smcr8 |
G |
T |
11: 60,671,208 (GRCm39) |
|
probably null |
Het |
| Srcap |
A |
T |
7: 127,158,335 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
T |
5: 137,296,179 (GRCm39) |
I509N |
probably damaging |
Het |
| Tcf25 |
T |
A |
8: 124,108,243 (GRCm39) |
H99Q |
probably benign |
Het |
| Tmem40 |
A |
G |
6: 115,713,373 (GRCm39) |
V76A |
probably benign |
Het |
| Tnni3k |
A |
T |
3: 154,533,248 (GRCm39) |
S740T |
possibly damaging |
Het |
| Top3a |
A |
G |
11: 60,667,746 (GRCm39) |
|
probably null |
Het |
| Tpd52l2 |
C |
A |
2: 181,144,680 (GRCm39) |
T109K |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 106,564,128 (GRCm39) |
D109E |
possibly damaging |
Het |
| Uty |
G |
T |
Y: 1,170,921 (GRCm39) |
D313E |
probably damaging |
Het |
| Zfp143 |
A |
T |
7: 109,685,442 (GRCm39) |
K423* |
probably null |
Het |
| Zfp407 |
C |
T |
18: 84,576,739 (GRCm39) |
G1458D |
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 |
|
IGL02381:Med23
|
APN |
10 |
24,776,626 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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 |
|
| 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