Incidental Mutation 'R7085:Med23'
ID |
549844 |
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 |
045179-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7085 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24746019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 8
(L8Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090316
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176313]
[ENSMUST00000177232]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020159
AA Change: L8Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020159 Gene: ENSMUSG00000019984 AA Change: L8Q
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092646
AA Change: L8Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090316 Gene: ENSMUSG00000019984 AA Change: L8Q
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176313
|
SMART Domains |
Protein: ENSMUSP00000135751 Gene: ENSMUSG00000019984
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
1 |
197 |
1.7e-75 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177232
AA Change: L8Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134866 Gene: ENSMUSG00000019984 AA Change: L8Q
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
3 |
58 |
1.2e-10 |
PFAM |
|
Meta Mutation Damage Score |
0.2415 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
95% (75/79) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
C |
10: 29,100,476 (GRCm39) |
L283P |
probably damaging |
Het |
Abhd18 |
T |
C |
3: 40,871,344 (GRCm39) |
M132T |
possibly damaging |
Het |
Afap1l1 |
A |
G |
18: 61,881,885 (GRCm39) |
V270A |
possibly damaging |
Het |
Ankrd34a |
A |
T |
3: 96,505,945 (GRCm39) |
Q383L |
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,361,835 (GRCm39) |
D627G |
probably damaging |
Het |
Atrnl1 |
T |
A |
19: 57,680,289 (GRCm39) |
C730S |
probably damaging |
Het |
Bclaf1 |
T |
C |
10: 20,197,768 (GRCm39) |
S4P |
unknown |
Het |
Blzf1 |
T |
C |
1: 164,129,893 (GRCm39) |
D153G |
probably damaging |
Het |
Btaf1 |
T |
C |
19: 36,950,318 (GRCm39) |
V516A |
probably benign |
Het |
C1qa |
T |
C |
4: 136,625,091 (GRCm39) |
T20A |
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,349,492 (GRCm39) |
|
probably null |
Het |
Cfd |
T |
G |
10: 79,728,326 (GRCm39) |
V229G |
probably damaging |
Het |
Chd3 |
T |
A |
11: 69,260,027 (GRCm39) |
H64L |
unknown |
Het |
Cntn3 |
A |
G |
6: 102,142,362 (GRCm39) |
S1002P |
possibly damaging |
Het |
Cntrl |
T |
A |
2: 35,055,804 (GRCm39) |
C1786S |
probably benign |
Het |
Cpa1 |
A |
G |
6: 30,643,619 (GRCm39) |
D355G |
probably benign |
Het |
D130043K22Rik |
T |
C |
13: 25,056,285 (GRCm39) |
V539A |
possibly damaging |
Het |
Ddx1 |
A |
C |
12: 13,279,356 (GRCm39) |
W428G |
probably damaging |
Het |
Ddx49 |
G |
A |
8: 70,755,133 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,364,468 (GRCm39) |
V4207E |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,779,086 (GRCm39) |
S288P |
probably damaging |
Het |
Drap1 |
G |
A |
19: 5,474,815 (GRCm39) |
|
probably benign |
Het |
Ecm2 |
G |
A |
13: 49,674,378 (GRCm39) |
R266K |
probably damaging |
Het |
Emilin2 |
A |
G |
17: 71,581,100 (GRCm39) |
L542S |
probably damaging |
Het |
Evx1 |
T |
C |
6: 52,293,677 (GRCm39) |
Y282H |
possibly damaging |
Het |
Fbxo44 |
T |
A |
4: 148,243,200 (GRCm39) |
H20L |
probably damaging |
Het |
Flot2 |
G |
T |
11: 77,948,900 (GRCm39) |
A292S |
possibly damaging |
Het |
Fry |
A |
G |
5: 150,362,214 (GRCm39) |
I2161V |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,889,647 (GRCm39) |
F587S |
probably damaging |
Het |
Gm49368 |
A |
G |
7: 127,726,029 (GRCm39) |
D1147G |
unknown |
Het |
Gprc5b |
A |
T |
7: 118,582,855 (GRCm39) |
M338K |
probably damaging |
Het |
H1f11-ps |
A |
G |
19: 47,159,101 (GRCm39) |
V158A |
unknown |
Het |
Hacd3 |
A |
C |
9: 64,905,525 (GRCm39) |
N204K |
probably damaging |
Het |
Hsd3b9 |
T |
C |
3: 98,357,710 (GRCm39) |
N101D |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,329,962 (GRCm39) |
T4899A |
probably benign |
Het |
Ido2 |
T |
A |
8: 25,048,212 (GRCm39) |
R49S |
probably benign |
Het |
Igsf3 |
C |
A |
3: 101,362,805 (GRCm39) |
T942K |
probably benign |
Het |
Kank4 |
T |
A |
4: 98,668,183 (GRCm39) |
Q88L |
probably benign |
Het |
Krtap16-1 |
T |
A |
11: 99,877,111 (GRCm39) |
I98F |
possibly damaging |
Het |
Laptm4a |
T |
C |
12: 8,972,113 (GRCm39) |
V52A |
probably benign |
Het |
Lmbr1 |
A |
T |
5: 29,566,090 (GRCm39) |
|
probably null |
Het |
Lnx1 |
G |
A |
5: 74,788,846 (GRCm39) |
S31F |
possibly damaging |
Het |
Mafa |
G |
T |
15: 75,619,536 (GRCm39) |
A79E |
unknown |
Het |
Me2 |
A |
T |
18: 73,914,129 (GRCm39) |
N467K |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,556,145 (GRCm39) |
I3383F |
unknown |
Het |
Nbas |
G |
T |
12: 13,335,259 (GRCm39) |
S151I |
probably damaging |
Het |
Or10ag60 |
T |
A |
2: 87,437,750 (GRCm39) |
I6N |
probably benign |
Het |
Or10d5j |
C |
A |
9: 39,867,808 (GRCm39) |
C141F |
probably damaging |
Het |
Or13c25 |
C |
T |
4: 52,910,961 (GRCm39) |
A278T |
probably benign |
Het |
Or6k6 |
T |
A |
1: 173,945,226 (GRCm39) |
I119F |
probably damaging |
Het |
Or7d11 |
G |
A |
9: 19,966,232 (GRCm39) |
H58Y |
probably benign |
Het |
Piezo1 |
A |
G |
8: 123,217,633 (GRCm39) |
V1305A |
|
Het |
Plcb3 |
T |
C |
19: 6,937,501 (GRCm39) |
E639G |
possibly damaging |
Het |
Polr2a |
A |
G |
11: 69,634,706 (GRCm39) |
L658P |
probably damaging |
Het |
Prag1 |
A |
T |
8: 36,571,391 (GRCm39) |
Q658L |
possibly damaging |
Het |
Prex2 |
A |
T |
1: 11,168,812 (GRCm39) |
R269S |
possibly damaging |
Het |
Reln |
C |
A |
5: 22,120,085 (GRCm39) |
G2856* |
probably null |
Het |
Rsph10b |
A |
T |
5: 143,886,102 (GRCm39) |
T267S |
possibly damaging |
Het |
Rtn4rl1 |
A |
G |
11: 75,156,050 (GRCm39) |
I161V |
probably benign |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Sbno1 |
G |
A |
5: 124,519,783 (GRCm39) |
P1165L |
possibly damaging |
Het |
Scn3b |
T |
C |
9: 40,188,394 (GRCm39) |
V29A |
probably damaging |
Het |
Sh3d21 |
T |
A |
4: 126,056,884 (GRCm39) |
T13S |
probably benign |
Het |
Shisal2b |
G |
T |
13: 104,994,814 (GRCm39) |
T111K |
probably benign |
Het |
Slc22a22 |
G |
A |
15: 57,113,045 (GRCm39) |
T398I |
probably benign |
Het |
Slc40a1 |
T |
A |
1: 45,950,688 (GRCm39) |
T255S |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,672,214 (GRCm39) |
|
probably null |
Het |
Soat1 |
A |
T |
1: 156,259,901 (GRCm39) |
V480D |
probably damaging |
Het |
Spata31e2 |
A |
G |
1: 26,722,546 (GRCm39) |
L878P |
possibly damaging |
Het |
Supt5 |
T |
A |
7: 28,030,914 (GRCm39) |
E39V |
unknown |
Het |
Tapbpl |
T |
C |
6: 125,203,451 (GRCm39) |
|
probably null |
Het |
Tdpoz7 |
T |
A |
3: 93,979,939 (GRCm39) |
M5L |
probably benign |
Het |
Tlr11 |
A |
T |
14: 50,600,113 (GRCm39) |
I700F |
probably damaging |
Het |
Tmc3 |
A |
T |
7: 83,271,353 (GRCm39) |
K864M |
possibly damaging |
Het |
Tns1 |
G |
A |
1: 73,964,621 (GRCm39) |
P81S |
probably benign |
Het |
Tspan2 |
C |
A |
3: 102,668,270 (GRCm39) |
L168I |
probably benign |
Het |
Unc13d |
C |
A |
11: 115,955,633 (GRCm39) |
S885I |
probably benign |
Het |
Unc45a |
A |
T |
7: 79,976,082 (GRCm39) |
M799K |
possibly damaging |
Het |
Usp34 |
A |
G |
11: 23,313,097 (GRCm39) |
D547G |
|
Het |
Vps33b |
A |
G |
7: 79,925,837 (GRCm39) |
I95V |
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 |
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 |
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'- ACAGATTTCAGAGGGGCTGG -3'
(R):5'- TTTCTTAGATCTGGCAGCAGTCC -3'
Sequencing Primer
(F):5'- CTGGTAACGGGTAAGCACC -3'
(R):5'- GCAGCAGTCCGGGGATG -3'
|
Posted On |
2019-05-15 |