Incidental Mutation 'R1774:Med23'
ID |
196940 |
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 |
039805-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1774 (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 24779584 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 887
(E887G)
|
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 |
possibly damaging
Transcript: ENSMUST00000020159
AA Change: E881G
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000020159 Gene: ENSMUSG00000019984 AA Change: E881G
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092646
AA Change: E887G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090316 Gene: ENSMUSG00000019984 AA Change: E887G
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176285
AA Change: E521G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135232 Gene: ENSMUSG00000019984 AA Change: E521G
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: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.0%
|
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
T |
C |
5: 144,982,351 (GRCm39) |
V312A |
probably damaging |
Het |
2810408A11Rik |
A |
G |
11: 69,791,453 (GRCm39) |
V42A |
probably damaging |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Angpt1 |
T |
A |
15: 42,387,012 (GRCm39) |
Q114L |
probably damaging |
Het |
Apc2 |
T |
C |
10: 80,144,964 (GRCm39) |
I625T |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,300,628 (GRCm39) |
V735A |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,947,008 (GRCm39) |
I2909N |
probably damaging |
Het |
C7 |
C |
G |
15: 5,041,557 (GRCm39) |
D450H |
probably damaging |
Het |
Cachd1 |
C |
T |
4: 100,821,632 (GRCm39) |
T403I |
probably damaging |
Het |
Cachd1 |
T |
A |
4: 100,824,240 (GRCm39) |
F560L |
probably benign |
Het |
Cacna2d2 |
A |
T |
9: 107,403,350 (GRCm39) |
Y944F |
probably benign |
Het |
Cdkal1 |
C |
T |
13: 30,034,031 (GRCm39) |
D21N |
probably damaging |
Het |
Col18a1 |
T |
C |
10: 76,895,815 (GRCm39) |
R901G |
probably damaging |
Het |
Col27a1 |
C |
T |
4: 63,143,950 (GRCm39) |
P546L |
probably damaging |
Het |
Cps1 |
C |
T |
1: 67,210,041 (GRCm39) |
R624W |
possibly damaging |
Het |
Cyp11a1 |
A |
T |
9: 57,925,643 (GRCm39) |
I93F |
probably benign |
Het |
Cyp2c40 |
G |
C |
19: 39,775,250 (GRCm39) |
T334R |
probably damaging |
Het |
Cyp4f37 |
A |
G |
17: 32,848,864 (GRCm39) |
D244G |
possibly damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,062,390 (GRCm39) |
D43E |
probably damaging |
Het |
Ep400 |
C |
A |
5: 110,833,357 (GRCm39) |
C1955F |
unknown |
Het |
Ethe1 |
G |
A |
7: 24,293,371 (GRCm39) |
V6I |
probably benign |
Het |
F5 |
C |
A |
1: 164,020,104 (GRCm39) |
Q860K |
probably benign |
Het |
Fasn |
T |
C |
11: 120,707,997 (GRCm39) |
Y685C |
probably damaging |
Het |
Gga2 |
T |
G |
7: 121,611,444 (GRCm39) |
D38A |
probably damaging |
Het |
Gm43302 |
T |
A |
5: 105,423,660 (GRCm39) |
I438F |
probably benign |
Het |
Grm1 |
T |
A |
10: 10,955,610 (GRCm39) |
T225S |
possibly damaging |
Het |
Hic2 |
G |
T |
16: 17,076,511 (GRCm39) |
V447L |
probably damaging |
Het |
Hsf2 |
G |
A |
10: 57,388,242 (GRCm39) |
C462Y |
probably damaging |
Het |
Ice1 |
T |
C |
13: 70,752,672 (GRCm39) |
D1138G |
probably damaging |
Het |
Il6 |
A |
G |
5: 30,224,433 (GRCm39) |
T158A |
probably benign |
Het |
Inpp5d |
T |
A |
1: 87,595,611 (GRCm39) |
V120E |
probably benign |
Het |
Iqca1 |
T |
C |
1: 90,008,625 (GRCm39) |
N456S |
probably benign |
Het |
Itgal |
T |
A |
7: 126,908,794 (GRCm39) |
|
probably null |
Het |
Lrrc66 |
G |
C |
5: 73,768,198 (GRCm39) |
Q248E |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,865,929 (GRCm39) |
M1271L |
possibly damaging |
Het |
Lrrc74a |
T |
C |
12: 86,795,827 (GRCm39) |
S267P |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,453,233 (GRCm39) |
S550P |
probably damaging |
Het |
Mapk8ip3 |
A |
T |
17: 25,143,119 (GRCm39) |
|
probably null |
Het |
Mdm4 |
A |
C |
1: 132,924,384 (GRCm39) |
S246A |
probably damaging |
Het |
Mta1 |
C |
T |
12: 113,091,659 (GRCm39) |
A254V |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,064,300 (GRCm39) |
Y85C |
possibly damaging |
Het |
Myo1g |
A |
G |
11: 6,465,988 (GRCm39) |
Y366H |
probably damaging |
Het |
Nalcn |
G |
A |
14: 123,515,678 (GRCm39) |
P1708S |
probably benign |
Het |
Nlrp9c |
A |
T |
7: 26,093,543 (GRCm39) |
S41T |
probably benign |
Het |
Nptx2 |
T |
A |
5: 144,490,248 (GRCm39) |
S226T |
possibly damaging |
Het |
Nup85 |
T |
A |
11: 115,473,771 (GRCm39) |
S562T |
probably benign |
Het |
Nxpe5 |
T |
C |
5: 138,237,797 (GRCm39) |
V107A |
probably benign |
Het |
Obi1 |
A |
G |
14: 104,717,098 (GRCm39) |
V425A |
possibly damaging |
Het |
Oga |
T |
C |
19: 45,765,423 (GRCm39) |
E128G |
probably benign |
Het |
Or10ac1 |
A |
T |
6: 42,515,453 (GRCm39) |
F168I |
probably damaging |
Het |
Or10al7 |
A |
G |
17: 38,366,328 (GRCm39) |
V43A |
probably benign |
Het |
Or13c3 |
T |
A |
4: 52,855,674 (GRCm39) |
I280F |
probably benign |
Het |
Or6p1 |
A |
G |
1: 174,258,905 (GRCm39) |
T304A |
probably benign |
Het |
Pcdhb12 |
C |
T |
18: 37,569,495 (GRCm39) |
P214S |
possibly damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,725 (GRCm39) |
F702I |
probably damaging |
Het |
Pcnx1 |
T |
C |
12: 82,022,094 (GRCm39) |
F1475S |
probably damaging |
Het |
Pde5a |
C |
A |
3: 122,523,013 (GRCm39) |
T40N |
probably benign |
Het |
Pnpla2 |
T |
A |
7: 141,039,481 (GRCm39) |
V398E |
probably damaging |
Het |
Pramel19 |
G |
A |
4: 101,797,655 (GRCm39) |
V18M |
probably benign |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rab20 |
T |
C |
8: 11,504,223 (GRCm39) |
K159R |
probably benign |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rgs12 |
T |
A |
5: 35,123,747 (GRCm39) |
V510D |
probably benign |
Het |
Slamf6 |
T |
C |
1: 171,770,154 (GRCm39) |
|
probably benign |
Het |
Slc27a5 |
A |
T |
7: 12,731,534 (GRCm39) |
C23* |
probably null |
Het |
Slc35e2 |
T |
C |
4: 155,694,621 (GRCm39) |
V56A |
possibly damaging |
Het |
Slx4ip |
T |
C |
2: 136,909,643 (GRCm39) |
S143P |
probably damaging |
Het |
Stat5a |
C |
T |
11: 100,770,112 (GRCm39) |
S463F |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,146,562 (GRCm39) |
D360G |
possibly damaging |
Het |
Tas2r143 |
A |
T |
6: 42,377,305 (GRCm39) |
D45V |
probably damaging |
Het |
Tdrd5 |
G |
T |
1: 156,105,079 (GRCm39) |
R516S |
probably damaging |
Het |
Thy1 |
A |
G |
9: 43,958,636 (GRCm39) |
D126G |
probably benign |
Het |
Tspear |
C |
T |
10: 77,709,019 (GRCm39) |
T415I |
probably benign |
Het |
Ttll5 |
C |
A |
12: 85,980,176 (GRCm39) |
T920K |
probably benign |
Het |
Tut4 |
T |
C |
4: 108,365,152 (GRCm39) |
F542L |
probably damaging |
Het |
Umod |
T |
C |
7: 119,076,574 (GRCm39) |
E64G |
possibly damaging |
Het |
Usf3 |
A |
G |
16: 44,036,033 (GRCm39) |
N171S |
probably damaging |
Het |
Vmn1r23 |
T |
A |
6: 57,903,675 (GRCm39) |
R34S |
probably damaging |
Het |
Wasf1 |
C |
G |
10: 40,810,475 (GRCm39) |
P239R |
possibly damaging |
Het |
Wdr95 |
C |
T |
5: 149,487,857 (GRCm39) |
R164* |
probably null |
Het |
Zan |
C |
A |
5: 137,418,251 (GRCm39) |
C2949F |
unknown |
Het |
Zbed4 |
T |
C |
15: 88,665,080 (GRCm39) |
S383P |
probably benign |
Het |
Zfand5 |
T |
A |
19: 21,253,895 (GRCm39) |
C33S |
probably damaging |
Het |
Zfp12 |
A |
G |
5: 143,230,984 (GRCm39) |
Y437C |
probably damaging |
Het |
Zfp451 |
A |
C |
1: 33,852,849 (GRCm39) |
S22A |
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 |
|
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'- TTCCTAGCAGGAGGAGTAGTGAACC -3'
(R):5'- TCAGAATCATGCCGACTTGAAGTACAG -3'
Sequencing Primer
(F):5'- TAGTGAACCACAAATAGGCCAAAAG -3'
(R):5'- AGCTAACTCGCTGTGGGTC -3'
|
Posted On |
2014-05-23 |