Incidental Mutation 'R2507:Med23'
ID |
251366 |
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 |
040413-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2507 (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 24786711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 939
(D939G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000020161]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000177232]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020159
AA Change: D1299G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020159 Gene: ENSMUSG00000019984 AA Change: D1299G
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000020161
|
SMART Domains |
Protein: ENSMUSP00000020161 Gene: ENSMUSG00000019987
Domain | Start | End | E-Value | Type |
Pfam:Arginase
|
6 |
305 |
1.4e-79 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092646
AA Change: D1305G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090316 Gene: ENSMUSG00000019984 AA Change: D1305G
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176285
AA Change: D939G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135232 Gene: ENSMUSG00000019984 AA Change: D939G
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218260
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020N01Rik |
A |
G |
10: 21,497,681 (GRCm39) |
|
probably benign |
Het |
4930535I16Rik |
G |
A |
4: 123,811,740 (GRCm39) |
|
probably benign |
Het |
Akr1b1 |
C |
T |
6: 34,286,999 (GRCm39) |
E186K |
probably damaging |
Het |
Apc |
A |
T |
18: 34,449,590 (GRCm39) |
N2128I |
possibly damaging |
Het |
Api5 |
T |
C |
2: 94,260,162 (GRCm39) |
I31M |
probably damaging |
Het |
Armcx4 |
T |
G |
X: 133,596,128 (GRCm39) |
V2012G |
possibly damaging |
Het |
Aurka |
T |
C |
2: 172,212,365 (GRCm39) |
E4G |
probably benign |
Het |
B4galt5 |
T |
A |
2: 167,148,558 (GRCm39) |
M187L |
probably benign |
Het |
Bsn |
T |
C |
9: 107,993,313 (GRCm39) |
D813G |
probably damaging |
Het |
Bub1 |
A |
T |
2: 127,643,343 (GRCm39) |
D1000E |
probably benign |
Het |
Cacna1f |
T |
G |
X: 7,492,687 (GRCm39) |
|
probably null |
Het |
Cdh6 |
A |
G |
15: 13,041,447 (GRCm39) |
I539T |
probably benign |
Het |
Cdhr3 |
T |
C |
12: 33,088,914 (GRCm39) |
D756G |
probably benign |
Het |
Cenph |
A |
T |
13: 100,907,744 (GRCm39) |
D85E |
probably benign |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Clec2h |
A |
G |
6: 128,650,945 (GRCm39) |
N75S |
probably benign |
Het |
Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
Cox4i1 |
T |
A |
8: 121,400,029 (GRCm39) |
V51E |
possibly damaging |
Het |
Cpne3 |
A |
T |
4: 19,553,871 (GRCm39) |
N53K |
probably damaging |
Het |
Cpt1b |
A |
G |
15: 89,303,301 (GRCm39) |
F585L |
probably benign |
Het |
Daam1 |
G |
A |
12: 72,021,997 (GRCm39) |
D732N |
probably damaging |
Het |
Dner |
A |
T |
1: 84,560,801 (GRCm39) |
C115S |
probably damaging |
Het |
Dop1a |
T |
A |
9: 86,395,170 (GRCm39) |
F759Y |
probably damaging |
Het |
Dst |
T |
C |
1: 34,050,990 (GRCm39) |
Y29H |
probably damaging |
Het |
Dst |
T |
C |
1: 34,227,498 (GRCm39) |
V1875A |
possibly damaging |
Het |
Duox1 |
A |
G |
2: 122,163,619 (GRCm39) |
D817G |
probably benign |
Het |
Emc2 |
A |
T |
15: 43,375,094 (GRCm39) |
|
probably null |
Het |
Erich3 |
A |
T |
3: 154,404,296 (GRCm39) |
E51V |
probably null |
Het |
Exoc2 |
A |
G |
13: 31,066,348 (GRCm39) |
Y443H |
possibly damaging |
Het |
Fbf1 |
T |
C |
11: 116,046,252 (GRCm39) |
R200G |
probably benign |
Het |
Fdxr |
G |
A |
11: 115,162,806 (GRCm39) |
T100I |
probably damaging |
Het |
Galnt11 |
C |
G |
5: 25,452,610 (GRCm39) |
P41A |
probably damaging |
Het |
Galnt4 |
A |
G |
10: 98,945,148 (GRCm39) |
K291R |
possibly damaging |
Het |
Gm12695 |
T |
A |
4: 96,642,426 (GRCm39) |
E301V |
probably damaging |
Het |
Gopc |
C |
T |
10: 52,229,422 (GRCm39) |
|
probably null |
Het |
Gria1 |
A |
T |
11: 57,180,146 (GRCm39) |
T699S |
probably null |
Het |
Gsr |
T |
G |
8: 34,170,316 (GRCm39) |
D200E |
probably benign |
Het |
Ikzf2 |
G |
A |
1: 69,578,447 (GRCm39) |
A282V |
probably benign |
Het |
Irak2 |
T |
C |
6: 113,624,639 (GRCm39) |
I45T |
probably damaging |
Het |
Irx1 |
T |
C |
13: 72,107,939 (GRCm39) |
K248E |
probably damaging |
Het |
Kcns3 |
A |
C |
12: 11,142,087 (GRCm39) |
V204G |
possibly damaging |
Het |
Lmo1 |
C |
A |
7: 108,739,848 (GRCm39) |
M91I |
probably damaging |
Het |
Map3k21 |
A |
G |
8: 126,666,677 (GRCm39) |
D623G |
possibly damaging |
Het |
Map4 |
A |
G |
9: 109,866,551 (GRCm39) |
|
probably benign |
Het |
Mark3 |
T |
A |
12: 111,593,676 (GRCm39) |
V236E |
probably damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,885,242 (GRCm39) |
C142R |
possibly damaging |
Het |
N4bp2 |
T |
A |
5: 65,947,404 (GRCm39) |
D11E |
probably benign |
Het |
Ntng2 |
T |
C |
2: 29,097,531 (GRCm39) |
N310S |
probably damaging |
Het |
Or10ak7 |
T |
C |
4: 118,791,122 (GRCm39) |
M308V |
probably benign |
Het |
Or6b3 |
A |
G |
1: 92,439,100 (GRCm39) |
S217P |
probably damaging |
Het |
Pcolce |
A |
G |
5: 137,605,313 (GRCm39) |
V260A |
possibly damaging |
Het |
Pds5b |
C |
A |
5: 150,679,893 (GRCm39) |
T533K |
possibly damaging |
Het |
Pecr |
A |
G |
1: 72,301,135 (GRCm39) |
Y268H |
probably benign |
Het |
Phax |
T |
A |
18: 56,719,956 (GRCm39) |
F299Y |
probably damaging |
Het |
Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
Pramel32 |
T |
A |
4: 88,547,448 (GRCm39) |
K161N |
possibly damaging |
Het |
Prpf39 |
T |
A |
12: 65,104,589 (GRCm39) |
F551L |
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ralgapa1 |
G |
A |
12: 55,764,986 (GRCm39) |
P889S |
probably damaging |
Het |
Rpap1 |
A |
G |
2: 119,610,535 (GRCm39) |
|
probably null |
Het |
Rufy3 |
T |
C |
5: 88,797,757 (GRCm39) |
S645P |
probably damaging |
Het |
Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
Spata7 |
G |
T |
12: 98,624,709 (GRCm39) |
A172S |
probably benign |
Het |
Stk35 |
A |
G |
2: 129,643,435 (GRCm39) |
T140A |
probably damaging |
Het |
Thop1 |
T |
G |
10: 80,906,098 (GRCm39) |
M1R |
probably null |
Het |
Tlr1 |
T |
C |
5: 65,082,639 (GRCm39) |
Y646C |
probably damaging |
Het |
Tpp2 |
A |
G |
1: 44,040,609 (GRCm39) |
Y290C |
probably benign |
Het |
Tpr |
A |
G |
1: 150,268,695 (GRCm39) |
M1V |
probably null |
Het |
Trim6 |
T |
C |
7: 103,877,392 (GRCm39) |
F161L |
probably damaging |
Het |
Ubash3b |
T |
C |
9: 41,068,650 (GRCm39) |
K25E |
possibly damaging |
Het |
Unc45b |
G |
A |
11: 82,830,963 (GRCm39) |
|
probably null |
Het |
Unc80 |
A |
G |
1: 66,651,266 (GRCm39) |
N1537S |
possibly damaging |
Het |
Usb1 |
T |
C |
8: 96,069,752 (GRCm39) |
F100S |
probably damaging |
Het |
Vmn1r17 |
C |
A |
6: 57,338,244 (GRCm39) |
L40F |
probably damaging |
Het |
Vmn1r233 |
A |
T |
17: 21,214,110 (GRCm39) |
M280K |
probably benign |
Het |
Zfp37 |
A |
T |
4: 62,109,493 (GRCm39) |
C524S |
probably damaging |
Het |
Zfp426 |
T |
C |
9: 20,381,727 (GRCm39) |
K420R |
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 |
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'- ACTGTCCCTCTGCACAAGTG -3'
(R):5'- ATCTAGAATTATGTTCTCCTGTGGCC -3'
Sequencing Primer
(F):5'- AAGTGCCATCCCGTGTCAGTG -3'
(R):5'- CCTGTGGCCTTAAGAGGTTAGATAC -3'
|
Posted On |
2014-12-04 |