Incidental Mutation 'R7643:Med23'
ID |
590362 |
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 |
045700-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7643 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24781863 bp (GRCm39)
|
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 |
4931406C07Rik |
A |
G |
9: 15,209,156 (GRCm39) |
F46S |
probably damaging |
Het |
Acaca |
T |
C |
11: 84,229,182 (GRCm39) |
Y1670H |
probably damaging |
Het |
Acrbp |
G |
A |
6: 125,030,795 (GRCm39) |
R272Q |
possibly damaging |
Het |
Adcy6 |
T |
A |
15: 98,491,449 (GRCm39) |
Q1050L |
probably benign |
Het |
Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
Ankrd13b |
A |
G |
11: 77,363,911 (GRCm39) |
V395A |
probably benign |
Het |
Ap3b2 |
T |
C |
7: 81,126,820 (GRCm39) |
K310R |
probably benign |
Het |
Bnc2 |
T |
C |
4: 84,424,811 (GRCm39) |
D123G |
probably benign |
Het |
Bst1 |
G |
A |
5: 43,997,791 (GRCm39) |
M263I |
probably benign |
Het |
Ccdc7a |
C |
T |
8: 129,616,292 (GRCm39) |
G937E |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,373,415 (GRCm39) |
M1232V |
probably benign |
Het |
Cfhr1 |
A |
G |
1: 139,481,323 (GRCm39) |
Y186H |
possibly damaging |
Het |
Dnah7c |
A |
T |
1: 46,641,973 (GRCm39) |
H1203L |
probably benign |
Het |
Emc7 |
A |
G |
2: 112,285,624 (GRCm39) |
E71G |
probably benign |
Het |
Exoc3l4 |
G |
A |
12: 111,388,369 (GRCm39) |
|
probably benign |
Het |
Fam83c |
A |
G |
2: 155,672,924 (GRCm39) |
F278L |
possibly damaging |
Het |
Gabpb2 |
C |
A |
3: 95,107,536 (GRCm39) |
V180L |
probably benign |
Het |
Gbp2b |
G |
T |
3: 142,309,370 (GRCm39) |
Q160H |
probably benign |
Het |
Gm19965 |
C |
G |
1: 116,749,959 (GRCm39) |
Q547E |
unknown |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Gon4l |
T |
A |
3: 88,810,114 (GRCm39) |
D1774E |
probably damaging |
Het |
Gpr15 |
A |
C |
16: 58,538,179 (GRCm39) |
Y303* |
probably null |
Het |
Greb1 |
T |
C |
12: 16,761,997 (GRCm39) |
D461G |
probably damaging |
Het |
Gria4 |
T |
C |
9: 4,793,950 (GRCm39) |
N36S |
probably benign |
Het |
Hacd1 |
T |
C |
2: 14,049,602 (GRCm39) |
I119V |
probably damaging |
Het |
Ing5 |
T |
A |
1: 93,740,155 (GRCm39) |
D101E |
probably damaging |
Het |
Irak4 |
T |
A |
15: 94,456,709 (GRCm39) |
N297K |
probably benign |
Het |
Itga7 |
A |
G |
10: 128,789,370 (GRCm39) |
D971G |
probably benign |
Het |
Klf5 |
A |
G |
14: 99,550,614 (GRCm39) |
E397G |
possibly damaging |
Het |
Krtap29-1 |
C |
T |
11: 99,869,024 (GRCm39) |
G286S |
probably damaging |
Het |
Lrp2bp |
A |
T |
8: 46,473,564 (GRCm39) |
|
probably null |
Het |
Marchf4 |
T |
G |
1: 72,486,379 (GRCm39) |
Q266H |
probably damaging |
Het |
Megf11 |
T |
C |
9: 64,613,914 (GRCm39) |
L1079P |
probably damaging |
Het |
Mycbp2 |
G |
T |
14: 103,583,701 (GRCm39) |
L85I |
probably benign |
Het |
Nlgn2 |
G |
T |
11: 69,718,711 (GRCm39) |
Q290K |
probably damaging |
Het |
Nox4 |
A |
T |
7: 86,972,962 (GRCm39) |
E323V |
probably damaging |
Het |
Nup93 |
T |
C |
8: 95,013,247 (GRCm39) |
|
probably null |
Het |
Or10d5b |
T |
A |
9: 39,886,117 (GRCm39) |
M1L |
unknown |
Het |
Or14a257 |
C |
T |
7: 86,138,776 (GRCm39) |
|
probably null |
Het |
Or51e1 |
C |
T |
7: 102,358,745 (GRCm39) |
T93I |
probably benign |
Het |
Otop3 |
T |
C |
11: 115,230,474 (GRCm39) |
L117P |
probably damaging |
Het |
Pde6c |
C |
A |
19: 38,129,869 (GRCm39) |
Q260K |
probably damaging |
Het |
Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
Qser1 |
A |
T |
2: 104,617,322 (GRCm39) |
Y1163* |
probably null |
Het |
Rbm12 |
A |
T |
2: 155,940,137 (GRCm39) |
I45N |
unknown |
Het |
Rictor |
T |
A |
15: 6,798,750 (GRCm39) |
Y332* |
probably null |
Het |
Rpp14 |
C |
A |
14: 8,090,325 (GRCm38) |
S83* |
probably null |
Het |
Sel1l3 |
C |
T |
5: 53,280,504 (GRCm39) |
|
probably null |
Het |
Setd2 |
T |
C |
9: 110,396,908 (GRCm39) |
|
probably null |
Het |
Spink5 |
A |
G |
18: 44,143,319 (GRCm39) |
T759A |
probably benign |
Het |
Spon2 |
T |
A |
5: 33,374,800 (GRCm39) |
E2V |
probably benign |
Het |
Tdrd1 |
T |
C |
19: 56,826,140 (GRCm39) |
S144P |
probably damaging |
Het |
Tex15 |
A |
C |
8: 34,065,148 (GRCm39) |
Y1526S |
probably damaging |
Het |
Tex55 |
A |
G |
16: 38,648,225 (GRCm39) |
Y295H |
probably benign |
Het |
Tnfrsf21 |
T |
C |
17: 43,348,807 (GRCm39) |
S140P |
probably benign |
Het |
Trav6-2 |
T |
A |
14: 52,904,899 (GRCm39) |
M11K |
probably benign |
Het |
Trp53bp1 |
G |
T |
2: 121,078,295 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,565,171 (GRCm39) |
N28352S |
possibly damaging |
Het |
Uckl1 |
T |
C |
2: 181,214,899 (GRCm39) |
I292V |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,216,333 (GRCm39) |
S211T |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,965,635 (GRCm39) |
I313T |
possibly damaging |
Het |
Zfp106 |
C |
T |
2: 120,343,215 (GRCm39) |
R1811K |
probably benign |
Het |
Zfp599 |
G |
T |
9: 22,161,188 (GRCm39) |
Q326K |
probably benign |
Het |
Zscan4e |
A |
T |
7: 11,043,452 (GRCm39) |
M108K |
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 |
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 |
|
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 |
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'- ATAAACACGCTGAGCTGTTTTCTTC -3'
(R):5'- AAGGTTGGCCTAAGCAACTC -3'
Sequencing Primer
(F):5'- TCTTCTTGACAGACCGGCCAG -3'
(R):5'- AAGAACATTACCTTAAAAACCGCTC -3'
|
Posted On |
2019-10-24 |