Incidental Mutation 'R1456:Med23'
ID |
161799 |
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 |
039511-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1456 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 24779550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134866
(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
|
SMART Domains |
Protein: ENSMUSP00000020159 Gene: ENSMUSG00000019984
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092646
|
SMART Domains |
Protein: ENSMUSP00000090316 Gene: ENSMUSG00000019984
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176285
|
SMART Domains |
Protein: ENSMUSP00000135232 Gene: ENSMUSG00000019984
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: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.9%
|
Validation Efficiency |
98% (90/92) |
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
C |
T |
2: 19,485,731 (GRCm39) |
|
probably null |
Het |
4932414N04Rik |
A |
T |
2: 68,546,558 (GRCm39) |
E80V |
possibly damaging |
Het |
Alkbh3 |
A |
G |
2: 93,831,764 (GRCm39) |
|
probably null |
Het |
Ankar |
A |
T |
1: 72,704,277 (GRCm39) |
Y664N |
probably benign |
Het |
Arhgap18 |
T |
C |
10: 26,792,436 (GRCm39) |
I629T |
probably benign |
Het |
Arhgef28 |
C |
T |
13: 98,211,510 (GRCm39) |
E158K |
probably benign |
Het |
Asxl2 |
C |
T |
12: 3,551,872 (GRCm39) |
H1205Y |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,916,285 (GRCm39) |
I427V |
probably benign |
Het |
Camk4 |
A |
G |
18: 33,262,896 (GRCm39) |
|
probably benign |
Het |
Ccdc178 |
A |
T |
18: 22,283,481 (GRCm39) |
D16E |
possibly damaging |
Het |
Cct6b |
G |
T |
11: 82,644,446 (GRCm39) |
|
probably benign |
Het |
Ccz1 |
A |
G |
5: 143,947,836 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,322,899 (GRCm39) |
N335S |
possibly damaging |
Het |
Cemip |
T |
A |
7: 83,647,718 (GRCm39) |
S121C |
possibly damaging |
Het |
Cers1 |
A |
G |
8: 70,783,838 (GRCm39) |
E262G |
probably damaging |
Het |
Clec11a |
G |
T |
7: 43,955,874 (GRCm39) |
P58T |
possibly damaging |
Het |
Clec16a |
T |
C |
16: 10,509,419 (GRCm39) |
I797T |
probably damaging |
Het |
Col4a1 |
A |
C |
8: 11,292,829 (GRCm39) |
|
probably benign |
Het |
Colgalt2 |
G |
A |
1: 152,360,655 (GRCm39) |
V231I |
probably damaging |
Het |
D430041D05Rik |
G |
T |
2: 104,038,428 (GRCm39) |
N1580K |
probably damaging |
Het |
Dcdc5 |
A |
G |
2: 106,181,910 (GRCm39) |
|
noncoding transcript |
Het |
Ddx17 |
T |
C |
15: 79,414,577 (GRCm39) |
D530G |
probably benign |
Het |
Dhx9 |
A |
T |
1: 153,341,441 (GRCm39) |
D601E |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,646,853 (GRCm39) |
Y1059H |
probably damaging |
Het |
Dtx1 |
C |
A |
5: 120,848,569 (GRCm39) |
|
probably benign |
Het |
Egfr |
A |
G |
11: 16,813,065 (GRCm39) |
S182G |
probably benign |
Het |
Fads1 |
A |
G |
19: 10,163,116 (GRCm39) |
N131S |
probably benign |
Het |
Fam243 |
T |
A |
16: 92,117,553 (GRCm39) |
Y245F |
probably damaging |
Het |
Fancm |
C |
T |
12: 65,165,125 (GRCm39) |
A1490V |
possibly damaging |
Het |
Fsd2 |
C |
A |
7: 81,209,339 (GRCm39) |
E168* |
probably null |
Het |
Galnt2l |
T |
C |
8: 123,568,687 (GRCm39) |
|
probably benign |
Het |
Gm9772 |
A |
T |
17: 22,226,099 (GRCm39) |
C62S |
probably damaging |
Het |
H60c |
C |
T |
10: 3,210,307 (GRCm39) |
A81T |
possibly damaging |
Het |
Hira |
T |
G |
16: 18,744,413 (GRCm39) |
S377A |
probably benign |
Het |
Iffo1 |
T |
C |
6: 125,122,877 (GRCm39) |
S220P |
possibly damaging |
Het |
Itih4 |
A |
G |
14: 30,614,610 (GRCm39) |
M491V |
probably benign |
Het |
Khdrbs2 |
T |
C |
1: 32,559,777 (GRCm39) |
R102G |
possibly damaging |
Het |
Klhdc7a |
T |
G |
4: 139,692,835 (GRCm39) |
Y704S |
possibly damaging |
Het |
Klk1b21 |
G |
A |
7: 43,754,923 (GRCm39) |
V73I |
probably benign |
Het |
Krt42 |
G |
A |
11: 100,160,435 (GRCm39) |
A88V |
probably benign |
Het |
Krt42 |
C |
T |
11: 100,160,436 (GRCm39) |
A88T |
probably benign |
Het |
Limk1 |
G |
T |
5: 134,686,364 (GRCm39) |
D580E |
probably benign |
Het |
Lipk |
C |
T |
19: 34,024,185 (GRCm39) |
P323S |
probably damaging |
Het |
Lipo5 |
T |
A |
19: 33,443,273 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,736,325 (GRCm39) |
D166G |
probably benign |
Het |
Mapk8ip3 |
A |
T |
17: 25,125,923 (GRCm39) |
N439K |
probably damaging |
Het |
Mapkbp1 |
C |
T |
2: 119,803,626 (GRCm39) |
R32W |
probably damaging |
Het |
Mrgprb1 |
A |
T |
7: 48,097,777 (GRCm39) |
M45K |
probably damaging |
Het |
Mroh7 |
G |
A |
4: 106,552,338 (GRCm39) |
|
probably benign |
Het |
Mrpl27 |
G |
A |
11: 94,544,659 (GRCm39) |
|
probably benign |
Het |
Ms4a10 |
T |
A |
19: 10,942,097 (GRCm39) |
T175S |
possibly damaging |
Het |
Muc17 |
T |
C |
5: 137,166,799 (GRCm39) |
H330R |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,399,028 (GRCm39) |
I2787F |
probably damaging |
Het |
Ndst1 |
A |
G |
18: 60,846,277 (GRCm39) |
C11R |
possibly damaging |
Het |
Obsl1 |
C |
A |
1: 75,464,300 (GRCm39) |
G1669* |
probably null |
Het |
Or5p56 |
A |
G |
7: 107,589,605 (GRCm39) |
E11G |
probably benign |
Het |
Or6c208 |
A |
T |
10: 129,223,652 (GRCm39) |
D50V |
probably damaging |
Het |
Or7e177 |
T |
C |
9: 20,212,134 (GRCm39) |
Y214H |
probably benign |
Het |
Pafah2 |
T |
A |
4: 134,131,468 (GRCm39) |
I52N |
probably damaging |
Het |
Pcsk6 |
A |
T |
7: 65,693,283 (GRCm39) |
I693F |
possibly damaging |
Het |
Pde4c |
G |
T |
8: 71,199,262 (GRCm39) |
R228L |
probably benign |
Het |
Pdzd8 |
T |
C |
19: 59,288,904 (GRCm39) |
N832S |
probably benign |
Het |
Plbd1 |
T |
A |
6: 136,590,814 (GRCm39) |
M451L |
probably benign |
Het |
Pramel14 |
G |
T |
4: 143,719,851 (GRCm39) |
D171E |
probably benign |
Het |
Prom1 |
T |
C |
5: 44,194,965 (GRCm39) |
D260G |
probably damaging |
Het |
Ranbp17 |
A |
G |
11: 33,216,310 (GRCm39) |
S813P |
probably damaging |
Het |
Scn10a |
T |
C |
9: 119,520,544 (GRCm39) |
I119V |
probably benign |
Het |
Sh3pxd2b |
A |
G |
11: 32,365,967 (GRCm39) |
T353A |
probably damaging |
Het |
Shq1 |
A |
T |
6: 100,646,659 (GRCm39) |
|
probably null |
Het |
Slc22a28 |
T |
A |
19: 8,049,223 (GRCm39) |
H342L |
possibly damaging |
Het |
Slco2b1 |
C |
T |
7: 99,314,114 (GRCm39) |
E9K |
probably null |
Het |
Specc1l |
T |
C |
10: 75,082,118 (GRCm39) |
F505L |
probably damaging |
Het |
Sptan1 |
G |
T |
2: 29,870,215 (GRCm39) |
|
probably null |
Het |
St6gal2 |
A |
G |
17: 55,797,932 (GRCm39) |
|
probably benign |
Het |
Taok2 |
T |
C |
7: 126,479,313 (GRCm39) |
I73V |
probably benign |
Het |
Tax1bp1 |
C |
T |
6: 52,721,229 (GRCm39) |
T478I |
probably benign |
Het |
Tbc1d4 |
A |
T |
14: 101,744,542 (GRCm39) |
N361K |
probably damaging |
Het |
Tph1 |
A |
T |
7: 46,296,907 (GRCm39) |
Y429* |
probably null |
Het |
Tprkb |
A |
T |
6: 85,901,403 (GRCm39) |
R14W |
probably damaging |
Het |
Trio |
A |
T |
15: 27,753,890 (GRCm39) |
|
probably benign |
Het |
Ttc23 |
T |
C |
7: 67,316,902 (GRCm39) |
|
probably benign |
Het |
Vmn1r211 |
T |
C |
13: 23,036,415 (GRCm39) |
Y84C |
probably damaging |
Het |
Vmn2r22 |
C |
G |
6: 123,614,624 (GRCm39) |
G322A |
possibly damaging |
Het |
Wdr74 |
A |
G |
19: 8,717,776 (GRCm39) |
Q330R |
probably benign |
Het |
Wdtc1 |
C |
A |
4: 133,024,739 (GRCm39) |
S486I |
possibly damaging |
Het |
Zbtb24 |
T |
C |
10: 41,340,989 (GRCm39) |
V673A |
possibly damaging |
Het |
Zfpm2 |
A |
T |
15: 40,965,877 (GRCm39) |
R655S |
probably damaging |
Het |
Zkscan5 |
A |
G |
5: 145,157,798 (GRCm39) |
N694D |
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 |
|
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'- ACATTCCTAGCAGGAGGAGTAGTGAAC -3'
(R):5'- TCAGAATCATGCCGACTTGAAGTACAG -3'
Sequencing Primer
(F):5'- TAGTGAACCACAAATAGGCCAAAAG -3'
(R):5'- AGCTAACTCGCTGTGGGTC -3'
|
Posted On |
2014-03-14 |