Incidental Mutation 'R6393:Med23'
| ID |
515889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med23
|
| Ensembl Gene |
ENSMUSG00000019984 |
| Gene Name |
mediator complex subunit 23 |
| Synonyms |
X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2 |
| MMRRC Submission |
044542-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
24869986-24913681 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24873476 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 31
(S31T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176313]
[ENSMUST00000176502]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020159
AA Change: S58T
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: S58T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092646
AA Change: S58T
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: S58T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176313
AA Change: S31T
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135751
Gene: ENSMUSG00000019984
AA Change: S31T
| 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 |
noncoding transcript
Transcript: ENSMUST00000176827
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177175
|
| 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: ENSMUST00000177522
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
99% (70/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 193,174,382 |
Q14R |
possibly damaging |
Het |
| Adamts12 |
A |
G |
15: 11,255,635 |
D430G |
probably damaging |
Het |
| Agxt2 |
T |
C |
15: 10,393,808 |
|
probably null |
Het |
| Akirin1 |
T |
G |
4: 123,743,531 |
Q87P |
possibly damaging |
Het |
| Ank2 |
G |
A |
3: 126,929,757 |
R974C |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,463,672 |
I804V |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 97,994,019 |
L437Q |
possibly damaging |
Het |
| Atp8a2 |
G |
T |
14: 59,773,755 |
Y967* |
probably null |
Het |
| Calcr |
A |
G |
6: 3,708,586 |
L200S |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 45,096,465 |
V528D |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,979,487 |
Y1296H |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,325,081 |
R28C |
possibly damaging |
Het |
| Clrn1 |
A |
G |
3: 58,846,320 |
F207L |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,655,485 |
T1772A |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,355,680 |
T1744A |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,129,911 |
E655G |
probably damaging |
Het |
| Dnajb3 |
T |
A |
1: 88,205,662 |
E6V |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 67,822,602 |
P463S |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,578,413 |
C1128S |
probably benign |
Het |
| Fcrl5 |
G |
A |
3: 87,448,327 |
G449E |
probably damaging |
Het |
| Frem2 |
G |
T |
3: 53,585,640 |
N1818K |
possibly damaging |
Het |
| Gm21149 |
C |
A |
5: 15,473,039 |
V187L |
possibly damaging |
Het |
| Gm8994 |
A |
G |
6: 136,328,598 |
K19R |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,431,918 |
G294R |
possibly damaging |
Het |
| Gstm7 |
A |
G |
3: 107,930,826 |
|
probably null |
Het |
| Htr1b |
T |
A |
9: 81,631,757 |
I266F |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 139,019,171 |
I305T |
probably damaging |
Het |
| Kif13a |
C |
T |
13: 46,752,455 |
V671M |
possibly damaging |
Het |
| Kifc5b |
T |
C |
17: 26,921,842 |
C97R |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,361,190 |
H557L |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,479,756 |
V1199A |
probably benign |
Het |
| Lmbr1 |
A |
G |
5: 29,254,294 |
L246P |
probably damaging |
Het |
| M6pr |
T |
C |
6: 122,315,380 |
L178P |
possibly damaging |
Het |
| Med17 |
A |
G |
9: 15,274,583 |
S212P |
probably damaging |
Het |
| Morc2b |
T |
G |
17: 33,137,776 |
T341P |
probably damaging |
Het |
| Mre11a |
A |
G |
9: 14,785,509 |
M1V |
probably null |
Het |
| Mrpl17 |
T |
C |
7: 105,809,915 |
H158R |
probably benign |
Het |
| Mstn |
A |
G |
1: 53,066,489 |
Q330R |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,647,399 |
K2533* |
probably null |
Het |
| N4bp2 |
T |
C |
5: 65,791,001 |
S325P |
possibly damaging |
Het |
| Nadk |
A |
G |
4: 155,589,351 |
Y399C |
possibly damaging |
Het |
| Nbea |
A |
C |
3: 56,091,119 |
L89R |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,278,181 |
F775L |
probably benign |
Het |
| Ndufa11 |
C |
A |
17: 56,721,331 |
A70E |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,976,851 |
Y175C |
possibly damaging |
Het |
| Olfr1121 |
A |
G |
2: 87,371,565 |
N11S |
probably damaging |
Het |
| Olfr1419 |
A |
T |
19: 11,870,727 |
L163Q |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,969,014 |
S443P |
probably damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,447,596 |
D425G |
probably benign |
Het |
| Pdcd1lg2 |
T |
A |
19: 29,437,298 |
C42S |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 |
|
probably benign |
Het |
| Rbm46 |
G |
A |
3: 82,863,955 |
T451M |
probably benign |
Het |
| Rcan2 |
T |
A |
17: 43,953,479 |
V10D |
probably benign |
Het |
| Rpl7l1 |
T |
C |
17: 46,782,622 |
E4G |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,397,199 |
E613G |
probably benign |
Het |
| Sbk2 |
T |
C |
7: 4,957,622 |
D183G |
probably damaging |
Het |
| Slc15a4 |
C |
T |
5: 127,616,886 |
A162T |
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,686,046 |
W315R |
probably damaging |
Het |
| Slc39a14 |
G |
C |
14: 70,309,813 |
F361L |
probably benign |
Het |
| Slc6a13 |
T |
C |
6: 121,336,842 |
Y515H |
possibly damaging |
Het |
| Slitrk3 |
C |
A |
3: 73,049,914 |
K508N |
possibly damaging |
Het |
| Stard4 |
T |
C |
18: 33,205,225 |
D144G |
probably benign |
Het |
| Tlr9 |
T |
C |
9: 106,224,937 |
F476L |
probably damaging |
Het |
| Tshz1 |
A |
T |
18: 84,013,220 |
V1021D |
probably damaging |
Het |
| Vmn1r54 |
A |
T |
6: 90,269,322 |
I73F |
probably benign |
Het |
| Vmn2r19 |
A |
C |
6: 123,316,153 |
S385R |
possibly damaging |
Het |
| Xkr5 |
A |
G |
8: 18,948,700 |
L34P |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,638,313 |
V121A |
probably damaging |
Het |
| Zbtb40 |
T |
A |
4: 136,984,866 |
H268L |
probably null |
Het |
| Zfp865 |
T |
C |
7: 5,030,066 |
F350S |
probably damaging |
Het |
| Zscan4b |
T |
C |
7: 10,900,901 |
I472V |
possibly damaging |
Het |
|
| Other mutations in Med23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00670:Med23
|
APN |
10 |
24,888,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00792:Med23
|
APN |
10 |
24,877,004 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01289:Med23
|
APN |
10 |
24,902,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01469:Med23
|
APN |
10 |
24,882,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01598:Med23
|
APN |
10 |
24,903,798 (GRCm38) |
missense |
probably benign |
0.34 |
|
IGL02324:Med23
|
APN |
10 |
24,897,341 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02381:Med23
|
APN |
10 |
24,900,728 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02465:Med23
|
APN |
10 |
24,903,743 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02554:Med23
|
APN |
10 |
24,898,575 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02683:Med23
|
APN |
10 |
24,870,717 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4362001:Med23
|
UTSW |
10 |
24,874,571 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0080:Med23
|
UTSW |
10 |
24,912,817 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0125:Med23
|
UTSW |
10 |
24,900,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0311:Med23
|
UTSW |
10 |
24,897,358 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0765:Med23
|
UTSW |
10 |
24,900,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1302:Med23
|
UTSW |
10 |
24,888,422 (GRCm38) |
splice site |
probably null |
|
|
R1456:Med23
|
UTSW |
10 |
24,903,652 (GRCm38) |
splice site |
probably benign |
|
|
R1514:Med23
|
UTSW |
10 |
24,892,667 (GRCm38) |
splice site |
probably benign |
|
|
R1774:Med23
|
UTSW |
10 |
24,903,686 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1851:Med23
|
UTSW |
10 |
24,910,870 (GRCm38) |
splice site |
probably null |
|
|
R1928:Med23
|
UTSW |
10 |
24,909,812 (GRCm38) |
missense |
probably benign |
|
|
R1975:Med23
|
UTSW |
10 |
24,910,766 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2011:Med23
|
UTSW |
10 |
24,879,755 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R2266:Med23
|
UTSW |
10 |
24,874,601 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2309:Med23
|
UTSW |
10 |
24,870,688 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2507:Med23
|
UTSW |
10 |
24,910,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2566:Med23
|
UTSW |
10 |
24,888,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3720:Med23
|
UTSW |
10 |
24,891,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3771:Med23
|
UTSW |
10 |
24,902,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3811:Med23
|
UTSW |
10 |
24,892,593 (GRCm38) |
splice site |
probably null |
|
|
R3811:Med23
|
UTSW |
10 |
24,892,592 (GRCm38) |
nonsense |
probably null |
|
|
R4305:Med23
|
UTSW |
10 |
24,904,270 (GRCm38) |
nonsense |
probably null |
|
|
R4323:Med23
|
UTSW |
10 |
24,870,705 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4701:Med23
|
UTSW |
10 |
24,893,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4886:Med23
|
UTSW |
10 |
24,874,683 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4925:Med23
|
UTSW |
10 |
24,910,747 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4943:Med23
|
UTSW |
10 |
24,875,669 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5207:Med23
|
UTSW |
10 |
24,895,836 (GRCm38) |
nonsense |
probably null |
|
|
R5749:Med23
|
UTSW |
10 |
24,888,449 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R5806:Med23
|
UTSW |
10 |
24,907,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5896:Med23
|
UTSW |
10 |
24,902,145 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5954:Med23
|
UTSW |
10 |
24,870,483 (GRCm38) |
splice site |
probably benign |
|
|
R6031:Med23
|
UTSW |
10 |
24,903,748 (GRCm38) |
nonsense |
probably null |
|
|
R6031:Med23
|
UTSW |
10 |
24,903,748 (GRCm38) |
nonsense |
probably null |
|
|
R6093:Med23
|
UTSW |
10 |
24,878,443 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6107:Med23
|
UTSW |
10 |
24,906,034 (GRCm38) |
nonsense |
probably null |
|
|
R6356:Med23
|
UTSW |
10 |
24,888,413 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6533:Med23
|
UTSW |
10 |
24,893,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6911:Med23
|
UTSW |
10 |
24,902,181 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6981:Med23
|
UTSW |
10 |
24,895,824 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7085:Med23
|
UTSW |
10 |
24,870,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7215:Med23
|
UTSW |
10 |
24,888,429 (GRCm38) |
missense |
probably benign |
|
|
R7229:Med23
|
UTSW |
10 |
24,902,004 (GRCm38) |
missense |
probably benign |
|
|
R7489:Med23
|
UTSW |
10 |
24,904,356 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7530:Med23
|
UTSW |
10 |
24,905,953 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7643:Med23
|
UTSW |
10 |
24,905,965 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7653:Med23
|
UTSW |
10 |
24,904,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7764:Med23
|
UTSW |
10 |
24,909,920 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7784:Med23
|
UTSW |
10 |
24,902,448 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8024:Med23
|
UTSW |
10 |
24,879,683 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R8182:Med23
|
UTSW |
10 |
24,912,807 (GRCm38) |
missense |
probably benign |
|
|
R8412:Med23
|
UTSW |
10 |
24,908,734 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8874:Med23
|
UTSW |
10 |
24,895,719 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8975:Med23
|
UTSW |
10 |
24,904,436 (GRCm38) |
missense |
probably benign |
0.42 |
|
R9131:Med23
|
UTSW |
10 |
24,904,381 (GRCm38) |
missense |
|
|
|
R9202:Med23
|
UTSW |
10 |
24,904,304 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9341:Med23
|
UTSW |
10 |
24,912,807 (GRCm38) |
missense |
probably benign |
|
|
R9342:Med23
|
UTSW |
10 |
24,874,571 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9343:Med23
|
UTSW |
10 |
24,912,807 (GRCm38) |
missense |
probably benign |
|
|
R9412:Med23
|
UTSW |
10 |
24,902,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF003:Med23
|
UTSW |
10 |
24,903,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTTCAGTGTGAGCATGG -3'
(R):5'- AGTCCGCAACTTTATAACCAAAGG -3'
Sequencing Primer
(F):5'- CATGGCTTTGGTATCAAGAGTTAACG -3'
(R):5'- TTATAACCAAAGGTCTTTCCACCG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation