Incidental Mutation 'R7229:Med23'
| ID |
562365 |
| 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 |
045301-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7229 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24777902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 750
(A750D)
|
| 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: A744D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: A744D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092646
AA Change: A750D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: A750D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176285
AA Change: A384D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: A384D
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (73/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,832,809 (GRCm39) |
E122G |
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,682,647 (GRCm39) |
Y880H |
probably damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,239,723 (GRCm39) |
S830P |
probably benign |
Het |
| Atp1a3 |
T |
A |
7: 24,687,410 (GRCm39) |
Q696L |
probably benign |
Het |
| Brox |
G |
A |
1: 183,073,523 (GRCm39) |
R85* |
probably null |
Het |
| C130073F10Rik |
T |
C |
4: 101,747,439 (GRCm39) |
I197V |
probably benign |
Het |
| Cand2 |
G |
A |
6: 115,768,153 (GRCm39) |
V433M |
probably damaging |
Het |
| Cep83 |
A |
G |
10: 94,555,527 (GRCm39) |
K74E |
probably damaging |
Het |
| Chrng |
A |
T |
1: 87,137,166 (GRCm39) |
T275S |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,789,869 (GRCm39) |
D489G |
probably damaging |
Het |
| Cmtr1 |
A |
G |
17: 29,914,398 (GRCm39) |
|
probably null |
Het |
| Cnga1 |
T |
C |
5: 72,775,592 (GRCm39) |
N43S |
probably benign |
Het |
| Cog8 |
A |
T |
8: 107,782,984 (GRCm39) |
C102S |
probably damaging |
Het |
| Cpsf3 |
G |
A |
12: 21,346,738 (GRCm39) |
|
probably null |
Het |
| Cyp26b1 |
G |
A |
6: 84,554,132 (GRCm39) |
Q162* |
probably null |
Het |
| Elmod3 |
A |
G |
6: 72,571,736 (GRCm39) |
F14S |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,516,354 (GRCm39) |
S9P |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,741,517 (GRCm39) |
Q238R |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,884,676 (GRCm39) |
L654S |
unknown |
Het |
| Foxp1 |
A |
T |
6: 98,912,373 (GRCm39) |
L580Q |
unknown |
Het |
| Galr1 |
A |
G |
18: 82,423,789 (GRCm39) |
S163P |
probably damaging |
Het |
| Ganc |
T |
C |
2: 120,258,256 (GRCm39) |
F201L |
possibly damaging |
Het |
| Gin1 |
T |
C |
1: 97,712,876 (GRCm39) |
F310L |
probably benign |
Het |
| Grik2 |
A |
T |
10: 48,977,512 (GRCm39) |
|
probably null |
Het |
| Haus1 |
A |
T |
18: 77,851,834 (GRCm39) |
F94I |
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,760,682 (GRCm39) |
Y409C |
unknown |
Het |
| Hspa1l |
A |
G |
17: 35,196,231 (GRCm39) |
K90R |
probably benign |
Het |
| Icam5 |
T |
C |
9: 20,948,297 (GRCm39) |
S702P |
possibly damaging |
Het |
| Ifnar1 |
A |
G |
16: 91,296,444 (GRCm39) |
H315R |
probably benign |
Het |
| Klra9 |
T |
C |
6: 130,168,224 (GRCm39) |
H14R |
probably damaging |
Het |
| Krt78 |
A |
G |
15: 101,855,829 (GRCm39) |
Y661H |
probably benign |
Het |
| Krtap11-1 |
T |
C |
16: 89,367,813 (GRCm39) |
T69A |
possibly damaging |
Het |
| L3mbtl3 |
C |
A |
10: 26,168,560 (GRCm39) |
S598I |
unknown |
Het |
| Lama1 |
A |
T |
17: 68,059,441 (GRCm39) |
D608V |
|
Het |
| Lrrc55 |
G |
A |
2: 85,026,784 (GRCm39) |
T80I |
probably damaging |
Het |
| Lyst |
A |
T |
13: 13,818,094 (GRCm39) |
T1255S |
probably benign |
Het |
| Magi2 |
T |
C |
5: 20,670,586 (GRCm39) |
V310A |
probably damaging |
Het |
| Mmp2 |
G |
A |
8: 93,558,414 (GRCm39) |
R161Q |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,387,321 (GRCm39) |
I733F |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,552,961 (GRCm39) |
F1090L |
possibly damaging |
Het |
| Or2ag2b |
T |
G |
7: 106,418,202 (GRCm39) |
V304G |
probably damaging |
Het |
| Otulinl |
G |
A |
15: 27,658,273 (GRCm39) |
T199M |
probably benign |
Het |
| Pafah1b1 |
A |
G |
11: 74,573,104 (GRCm39) |
I320T |
probably damaging |
Het |
| Pcdhb1 |
T |
A |
18: 37,399,740 (GRCm39) |
Y564N |
probably damaging |
Het |
| Pear1 |
A |
G |
3: 87,657,596 (GRCm39) |
S988P |
probably benign |
Het |
| Pgam2 |
A |
C |
11: 5,753,013 (GRCm39) |
V194G |
probably damaging |
Het |
| Plvap |
A |
T |
8: 71,964,221 (GRCm39) |
I47N |
probably damaging |
Het |
| Prdx6 |
A |
T |
1: 161,074,867 (GRCm39) |
L71H |
probably damaging |
Het |
| Psmb11 |
G |
A |
14: 54,863,408 (GRCm39) |
V209M |
probably damaging |
Het |
| Ptprn2 |
G |
A |
12: 117,190,845 (GRCm39) |
|
probably null |
Het |
| Rcn2 |
T |
A |
9: 55,964,763 (GRCm39) |
N240K |
probably benign |
Het |
| Rsad2 |
A |
T |
12: 26,504,122 (GRCm39) |
Y136N |
probably damaging |
Het |
| Slc12a4 |
T |
G |
8: 106,673,369 (GRCm39) |
Q734P |
probably benign |
Het |
| Smarcc2 |
T |
A |
10: 128,323,917 (GRCm39) |
M1085K |
unknown |
Het |
| Smg1 |
A |
T |
7: 117,776,178 (GRCm39) |
C1371S |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,938,585 (GRCm39) |
F456L |
probably damaging |
Het |
| Srsf10 |
C |
T |
4: 135,583,528 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,673,931 (GRCm39) |
Y4C |
probably damaging |
Het |
| Tdrd12 |
T |
A |
7: 35,179,705 (GRCm39) |
D881V |
unknown |
Het |
| Tmem171 |
T |
C |
13: 98,829,133 (GRCm39) |
T6A |
probably benign |
Het |
| Tmem220 |
T |
C |
11: 66,916,989 (GRCm39) |
L55P |
unknown |
Het |
| Ttn |
G |
T |
2: 76,677,125 (GRCm39) |
P11037Q |
unknown |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,692,084 (GRCm39) |
S849P |
probably benign |
Het |
| Vcan |
G |
A |
13: 89,853,389 (GRCm39) |
P524S |
possibly damaging |
Het |
| Vmn1r18 |
A |
G |
6: 57,367,083 (GRCm39) |
M157T |
probably benign |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,225 (GRCm39) |
C711S |
possibly damaging |
Het |
| Wasf3 |
C |
T |
5: 146,392,463 (GRCm39) |
R178C |
probably damaging |
Het |
| Wdr76 |
G |
A |
2: 121,359,401 (GRCm39) |
V231I |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,355,895 (GRCm39) |
N3552I |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,088,969 (GRCm39) |
T933A |
probably benign |
Het |
| Zmynd8 |
A |
G |
2: 165,699,973 (GRCm39) |
|
probably null |
Het |
| Zranb3 |
A |
T |
1: 127,968,630 (GRCm39) |
I95K |
probably benign |
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 |
|
R5806:Med23
|
UTSW |
10 |
24,783,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- AGGCTTTCATTACTGCCTGAC -3'
(R):5'- GAGAACTGAGCTCTGGCATG -3'
Sequencing Primer
(F):5'- TTACTGCCTGACTCAAGGACACTTAG -3'
(R):5'- GACTAATATGATCCGTCTCCAGGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation