Incidental Mutation 'R0765:Med23'
ID |
72614 |
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 |
038945-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0765 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24776608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 347
(S347P)
|
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: S707P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020159 Gene: ENSMUSG00000019984 AA Change: S707P
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092646
AA Change: S713P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000090316 Gene: ENSMUSG00000019984 AA Change: S713P
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176285
AA Change: S347P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000135232 Gene: ENSMUSG00000019984 AA Change: S347P
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
1 |
51 |
4.4e-14 |
PFAM |
Pfam:Med23
|
48 |
950 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176827
|
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 |
|
Meta Mutation Damage Score |
0.0928 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.7%
|
Validation Efficiency |
100% (62/62) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16a |
T |
A |
17: 35,320,827 (GRCm39) |
V425D |
probably benign |
Het |
Ano9 |
T |
G |
7: 140,687,097 (GRCm39) |
I381L |
probably damaging |
Het |
Apob |
C |
T |
12: 8,066,518 (GRCm39) |
L4496F |
probably benign |
Het |
Arhgef38 |
C |
T |
3: 132,822,344 (GRCm39) |
E724K |
probably damaging |
Het |
Atp8b4 |
T |
A |
2: 126,214,070 (GRCm39) |
|
probably null |
Het |
Baiap2l1 |
G |
T |
5: 144,214,513 (GRCm39) |
P394T |
probably damaging |
Het |
Btbd8 |
T |
A |
5: 107,654,800 (GRCm39) |
D354E |
probably benign |
Het |
Cnbp |
C |
A |
6: 87,822,155 (GRCm39) |
C122F |
probably damaging |
Het |
Col3a1 |
A |
G |
1: 45,375,811 (GRCm39) |
|
probably benign |
Het |
Colq |
T |
G |
14: 31,247,994 (GRCm39) |
D408A |
possibly damaging |
Het |
Cuzd1 |
A |
T |
7: 130,917,824 (GRCm39) |
S259T |
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,327,220 (GRCm39) |
|
probably benign |
Het |
Dbn1 |
C |
A |
13: 55,630,107 (GRCm39) |
V112F |
probably damaging |
Het |
Dcc |
T |
A |
18: 71,496,061 (GRCm39) |
D1028V |
probably damaging |
Het |
Dnajb11 |
T |
C |
16: 22,681,318 (GRCm39) |
V32A |
probably damaging |
Het |
Dsg4 |
G |
A |
18: 20,587,703 (GRCm39) |
|
probably benign |
Het |
Dyrk1b |
C |
T |
7: 27,885,136 (GRCm39) |
|
probably benign |
Het |
Ebf1 |
T |
A |
11: 44,759,987 (GRCm39) |
M208K |
probably damaging |
Het |
Efhc1 |
A |
G |
1: 21,048,876 (GRCm39) |
I430V |
probably benign |
Het |
Elovl2 |
T |
C |
13: 41,340,942 (GRCm39) |
Y181C |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,700,655 (GRCm39) |
Q225R |
probably benign |
Het |
Frmd3 |
G |
A |
4: 74,080,004 (GRCm39) |
R332Q |
probably damaging |
Het |
Glg1 |
A |
G |
8: 111,886,429 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
G |
A |
1: 150,684,538 (GRCm39) |
T344M |
probably damaging |
Het |
Il1rap |
T |
G |
16: 26,529,382 (GRCm39) |
|
probably null |
Het |
Klra1 |
A |
T |
6: 130,356,055 (GRCm39) |
|
probably benign |
Het |
Larp7 |
C |
A |
3: 127,339,814 (GRCm39) |
K289N |
probably damaging |
Het |
Lgr6 |
C |
A |
1: 134,921,624 (GRCm39) |
G240V |
probably benign |
Het |
Lrp10 |
G |
T |
14: 54,705,547 (GRCm39) |
D246Y |
probably damaging |
Het |
Map3k20 |
G |
A |
2: 72,202,269 (GRCm39) |
V167I |
probably damaging |
Het |
Mybph |
T |
C |
1: 134,125,234 (GRCm39) |
V254A |
possibly damaging |
Het |
Ndufv2 |
A |
G |
17: 66,408,073 (GRCm39) |
|
probably benign |
Het |
Nuf2 |
A |
T |
1: 169,350,505 (GRCm39) |
|
probably benign |
Het |
Nup210l |
T |
C |
3: 90,027,184 (GRCm39) |
Y189H |
probably damaging |
Het |
Or4c52 |
G |
A |
2: 89,846,014 (GRCm39) |
V247I |
probably benign |
Het |
Or51t4 |
C |
T |
7: 102,597,939 (GRCm39) |
T79I |
probably damaging |
Het |
Or5m13 |
T |
C |
2: 85,749,049 (GRCm39) |
L260P |
probably damaging |
Het |
Pdgfra |
C |
A |
5: 75,348,648 (GRCm39) |
|
probably benign |
Het |
Phlpp1 |
T |
C |
1: 106,320,013 (GRCm39) |
L1336P |
probably damaging |
Het |
Prpf38b |
T |
C |
3: 108,818,734 (GRCm39) |
T9A |
possibly damaging |
Het |
Rnf213 |
G |
A |
11: 119,313,921 (GRCm39) |
|
probably null |
Het |
Saal1 |
A |
T |
7: 46,349,071 (GRCm39) |
V281E |
possibly damaging |
Het |
Slc17a3 |
C |
T |
13: 24,030,879 (GRCm39) |
Q186* |
probably null |
Het |
Slc6a2 |
A |
G |
8: 93,715,659 (GRCm39) |
T266A |
probably damaging |
Het |
Snai2 |
T |
C |
16: 14,524,668 (GRCm39) |
V58A |
possibly damaging |
Het |
Srfbp1 |
T |
C |
18: 52,623,507 (GRCm39) |
|
probably benign |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Tesk1 |
C |
T |
4: 43,446,706 (GRCm39) |
P365S |
possibly damaging |
Het |
Tmem127 |
C |
A |
2: 127,099,069 (GRCm39) |
T201K |
probably damaging |
Het |
Trim17 |
T |
G |
11: 58,862,195 (GRCm39) |
V409G |
possibly damaging |
Het |
Trim43c |
C |
T |
9: 88,723,969 (GRCm39) |
T165I |
probably benign |
Het |
Ush2a |
C |
A |
1: 188,680,771 (GRCm39) |
F4916L |
possibly damaging |
Het |
Vmn1r89 |
A |
G |
7: 12,953,467 (GRCm39) |
M68V |
probably benign |
Het |
Vmn2r105 |
C |
T |
17: 20,447,973 (GRCm39) |
E284K |
probably benign |
Het |
Vmn2r105 |
T |
C |
17: 20,448,119 (GRCm39) |
D235G |
probably damaging |
Het |
Vmn2r-ps134 |
C |
T |
17: 23,665,015 (GRCm39) |
|
noncoding transcript |
Het |
Zdbf2 |
G |
A |
1: 63,344,882 (GRCm39) |
S1087N |
possibly damaging |
Het |
Zfp534 |
G |
A |
4: 147,758,693 (GRCm39) |
P659S |
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 |
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 |
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'- TTTACCAGTTCCAGCTACGGCG -3'
(R):5'- GCTATTACCAGGTCAAGCACTCCC -3'
Sequencing Primer
(F):5'- ATTCCCTTGGCCCAGGAAAG -3'
(R):5'- GGTCAAGCACTCCCTAGAAAG -3'
|
Posted On |
2013-09-30 |