Incidental Mutation 'R9342:Med23'
| ID |
707579 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9342 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24750469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 99
(M99V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176313]
[ENSMUST00000176502]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020159
AA Change: M99V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: M99V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092646
AA Change: M99V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: M99V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176313
AA Change: M72V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000135751
Gene: ENSMUSG00000019984
AA Change: M72V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
1 |
197 |
1.7e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176502
|
| SMART Domains |
Protein: ENSMUSP00000134836
Gene: ENSMUSG00000019984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
1 |
95 |
8.7e-36 |
PFAM |
|
Pfam:Med23
|
92 |
234 |
3.8e-63 |
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330070K13Rik |
T |
C |
5: 130,407,876 (GRCm39) |
I112V |
unknown |
Het |
| Aars2 |
A |
G |
17: 45,818,002 (GRCm39) |
N75D |
possibly damaging |
Het |
| Abcf2 |
G |
A |
5: 24,778,475 (GRCm39) |
R228C |
probably benign |
Het |
| Agfg2 |
A |
G |
5: 137,652,114 (GRCm39) |
L415P |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,386 (GRCm39) |
L535P |
unknown |
Het |
| Anxa9 |
T |
G |
3: 95,210,359 (GRCm39) |
T69P |
probably damaging |
Het |
| Arrb2 |
T |
A |
11: 70,327,463 (GRCm39) |
D79E |
probably benign |
Het |
| Bcat1 |
A |
G |
6: 144,994,332 (GRCm39) |
V55A |
probably benign |
Het |
| Cacna1c |
A |
G |
6: 119,034,335 (GRCm39) |
L64P |
|
Het |
| Cd247 |
A |
T |
1: 165,682,759 (GRCm39) |
D28V |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,320,442 (GRCm39) |
N790I |
probably damaging |
Het |
| Clrn1 |
C |
T |
3: 58,792,251 (GRCm39) |
V71I |
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,949,078 (GRCm39) |
Y463H |
possibly damaging |
Het |
| Col6a6 |
T |
C |
9: 105,663,172 (GRCm39) |
T122A |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,463,767 (GRCm39) |
D646V |
probably damaging |
Het |
| Dab2ip |
T |
A |
2: 35,613,105 (GRCm39) |
L1062Q |
possibly damaging |
Het |
| Dnajb4 |
T |
C |
3: 151,892,272 (GRCm39) |
N187S |
probably benign |
Het |
| Dock10 |
A |
T |
1: 80,570,360 (GRCm39) |
F365L |
probably benign |
Het |
| Erich6 |
G |
A |
3: 58,534,101 (GRCm39) |
Q309* |
probably null |
Het |
| Ext1 |
T |
C |
15: 53,208,524 (GRCm39) |
H79R |
probably benign |
Het |
| Fam187b |
T |
A |
7: 30,677,185 (GRCm39) |
C231* |
probably null |
Het |
| Fbh1 |
T |
C |
2: 11,754,414 (GRCm39) |
I775V |
probably benign |
Het |
| Fbxo15 |
T |
A |
18: 84,983,609 (GRCm39) |
M319K |
unknown |
Het |
| Fbxo9 |
A |
T |
9: 78,002,520 (GRCm39) |
M187K |
possibly damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,877,196 (GRCm39) |
D1113G |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,818,747 (GRCm39) |
T4827S |
possibly damaging |
Het |
| Gm49398 |
A |
T |
13: 61,435,478 (GRCm39) |
L7Q |
probably damaging |
Het |
| H2-M10.4 |
A |
T |
17: 36,771,285 (GRCm39) |
W298R |
probably damaging |
Het |
| Hoxd10 |
A |
G |
2: 74,522,982 (GRCm39) |
E220G |
probably benign |
Het |
| Hrh2 |
T |
G |
13: 54,368,222 (GRCm39) |
L66R |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,844,746 (GRCm39) |
T840A |
probably benign |
Het |
| Iqca1 |
A |
G |
1: 90,072,688 (GRCm39) |
V64A |
probably damaging |
Het |
| Klc2 |
A |
G |
19: 5,158,659 (GRCm39) |
S612P |
probably benign |
Het |
| Klf15 |
A |
G |
6: 90,443,851 (GRCm39) |
E142G |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,429,579 (GRCm39) |
T332S |
probably damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,506,767 (GRCm39) |
F348S |
probably damaging |
Het |
| Lrrn4 |
T |
C |
2: 132,712,290 (GRCm39) |
D511G |
probably benign |
Het |
| Lrtm2 |
T |
C |
6: 119,297,934 (GRCm39) |
I36V |
probably benign |
Het |
| Lsm10 |
T |
C |
4: 125,991,860 (GRCm39) |
L72P |
probably damaging |
Het |
| Mab21l3 |
T |
A |
3: 101,742,519 (GRCm39) |
S14C |
possibly damaging |
Het |
| Map2k4 |
T |
C |
11: 65,581,569 (GRCm39) |
K381R |
probably benign |
Het |
| Mcidas |
A |
G |
13: 113,130,915 (GRCm39) |
D80G |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,778,656 (GRCm39) |
D2067G |
probably benign |
Het |
| Ms4a19 |
T |
A |
19: 11,119,775 (GRCm39) |
T52S |
possibly damaging |
Het |
| Msc |
G |
T |
1: 14,825,707 (GRCm39) |
P89Q |
probably benign |
Het |
| Nalf1 |
C |
A |
8: 9,821,006 (GRCm39) |
A5S |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,062,430 (GRCm39) |
I287V |
probably benign |
Het |
| Or2d3c |
A |
T |
7: 106,526,564 (GRCm39) |
I34N |
possibly damaging |
Het |
| Or5t7 |
A |
T |
2: 86,507,494 (GRCm39) |
L61Q |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,340,023 (GRCm39) |
D779G |
probably damaging |
Het |
| Pnpla2 |
C |
A |
7: 141,035,331 (GRCm39) |
Y44* |
probably null |
Het |
| Ppp1r17 |
T |
A |
6: 56,003,524 (GRCm39) |
D112E |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,861,478 (GRCm39) |
I604T |
probably damaging |
Het |
| Prkce |
A |
G |
17: 86,781,877 (GRCm39) |
Y182C |
probably damaging |
Het |
| Prokr2 |
G |
A |
2: 132,182,790 (GRCm39) |
S189F |
possibly damaging |
Het |
| Qser1 |
A |
T |
2: 104,618,164 (GRCm39) |
S793T |
probably benign |
Het |
| Reck |
T |
C |
4: 43,943,301 (GRCm39) |
F951S |
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,697,458 (GRCm39) |
S652P |
probably benign |
Het |
| Rtl1 |
A |
C |
12: 109,558,884 (GRCm39) |
L985R |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,120,869 (GRCm39) |
E385G |
possibly damaging |
Het |
| Sfmbt1 |
G |
T |
14: 30,519,599 (GRCm39) |
W440L |
possibly damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,772,541 (GRCm38) |
C683* |
probably null |
Het |
| Slc51a |
A |
G |
16: 32,298,517 (GRCm39) |
L80P |
possibly damaging |
Het |
| Slco3a1 |
C |
A |
7: 74,154,037 (GRCm39) |
L178F |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,636,389 (GRCm39) |
C227S |
possibly damaging |
Het |
| Tbc1d30 |
A |
T |
10: 121,103,366 (GRCm39) |
Y555* |
probably null |
Het |
| Tcf7l2 |
A |
G |
19: 55,731,517 (GRCm39) |
Q90R |
probably benign |
Het |
| Tff3 |
A |
C |
17: 31,346,423 (GRCm39) |
S50A |
probably benign |
Het |
| Tnrc6c |
T |
C |
11: 117,630,720 (GRCm39) |
M1027T |
probably benign |
Het |
| Ttc12 |
A |
G |
9: 49,351,680 (GRCm39) |
F606L |
probably benign |
Het |
| Uqcc3 |
G |
A |
19: 8,858,090 (GRCm39) |
Q34* |
probably null |
Het |
| Veph1 |
T |
A |
3: 66,151,959 (GRCm39) |
I157F |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,368,428 (GRCm39) |
T188I |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,788 (GRCm39) |
I739T |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,882,993 (GRCm39) |
F253S |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,624 (GRCm39) |
I241V |
probably benign |
Het |
| Vmn2r97 |
A |
G |
17: 19,149,368 (GRCm39) |
E252G |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,455,200 (GRCm39) |
V703A |
possibly damaging |
Het |
| Vps25 |
T |
A |
11: 101,149,623 (GRCm39) |
L149Q |
probably damaging |
Het |
| Xirp1 |
T |
C |
9: 119,845,950 (GRCm39) |
T978A |
probably benign |
Het |
| Xpnpep1 |
T |
A |
19: 52,993,248 (GRCm39) |
I360F |
probably benign |
Het |
| Zfpm1 |
C |
T |
8: 123,061,308 (GRCm39) |
T291M |
probably benign |
Het |
| Zkscan8 |
A |
G |
13: 21,710,702 (GRCm39) |
V136A |
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,505,612 (GRCm39) |
Y592H |
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 |
|
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 |
|
|
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'- ACCAACAGCTTATGAGAGTGC -3'
(R):5'- CTCTGCTTTCTTTCTGTGAAGTAAG -3'
Sequencing Primer
(F):5'- CATGTTTGGCATGGCACT -3'
(R):5'- CTCCTCCAATGATTTTCCGA -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation