Incidental Mutation 'R7764:Med23'
| ID |
598131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med23
|
| Ensembl Gene |
ENSMUSG00000019984 |
| Gene Name |
mediator complex subunit 23 |
| Synonyms |
X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2 |
| MMRRC Submission |
045820-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7764 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
24869986-24913681 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 24909920 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000020159]
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000092646]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000176285]
[ENSMUST00000176285]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020159
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000020159
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000020159
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000092646
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000092646
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000092646
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
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 null
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 null
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
G |
16: 20,549,290 |
L93V |
probably benign |
Het |
| Adss |
A |
C |
1: 177,764,261 |
M452R |
probably damaging |
Het |
| Aldh3b1 |
T |
A |
19: 3,921,563 |
K102* |
probably null |
Het |
| Ccdc162 |
A |
T |
10: 41,690,113 |
V78D |
possibly damaging |
Het |
| Ccr3 |
T |
C |
9: 124,029,414 |
V262A |
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,721,305 |
|
probably null |
Het |
| Cdyl |
A |
T |
13: 35,816,143 |
T136S |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,471,819 |
D1015G |
probably null |
Het |
| Cntn2 |
C |
A |
1: 132,522,363 |
A598S |
probably benign |
Het |
| Cxxc4 |
G |
T |
3: 134,240,095 |
G146C |
unknown |
Het |
| Dnah2 |
G |
A |
11: 69,458,158 |
T2501I |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,097,535 |
I471N |
probably benign |
Het |
| Eaf2 |
A |
G |
16: 36,824,683 |
V59A |
probably damaging |
Het |
| Egflam |
T |
A |
15: 7,318,255 |
I65F |
probably damaging |
Het |
| Exoc3l |
A |
G |
8: 105,290,701 |
V577A |
possibly damaging |
Het |
| Folh1 |
A |
T |
7: 86,762,918 |
M215K |
probably benign |
Het |
| Fosb |
T |
C |
7: 19,305,046 |
D271G |
possibly damaging |
Het |
| Frmd4b |
A |
G |
6: 97,295,930 |
Y834H |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,980,908 |
S2524P |
possibly damaging |
Het |
| Gbp3 |
A |
G |
3: 142,565,263 |
T143A |
probably benign |
Het |
| Grk2 |
A |
T |
19: 4,287,363 |
L632Q |
probably damaging |
Het |
| Hars |
A |
T |
18: 36,770,184 |
D364E |
probably damaging |
Het |
| Hsd17b4 |
G |
T |
18: 50,146,415 |
G154* |
probably null |
Het |
| Kif5c |
T |
C |
2: 49,727,961 |
|
probably null |
Het |
| Kif5c |
T |
C |
2: 49,749,327 |
L800P |
probably damaging |
Het |
| Krt19 |
T |
C |
11: 100,141,392 |
N282S |
probably benign |
Het |
| Meltf |
A |
G |
16: 31,880,267 |
Q65R |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,598,842 |
S1106P |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,764,416 |
T733A |
probably damaging |
Het |
| Mul1 |
G |
A |
4: 138,434,769 |
G4S |
possibly damaging |
Het |
| Myl10 |
G |
C |
5: 136,697,971 |
V70L |
probably benign |
Het |
| Mylk |
G |
T |
16: 34,922,183 |
V1022L |
probably benign |
Het |
| Ncald |
G |
T |
15: 37,397,210 |
N75K |
probably damaging |
Het |
| Nfib |
A |
G |
4: 82,320,494 |
S492P |
possibly damaging |
Het |
| Notch2 |
A |
T |
3: 98,142,988 |
I1860F |
probably damaging |
Het |
| Olfr1499 |
A |
G |
19: 13,814,747 |
I281T |
probably benign |
Het |
| Oxr1 |
T |
C |
15: 41,819,867 |
S298P |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,354,248 |
D2818G |
probably benign |
Het |
| Pmpcb |
G |
A |
5: 21,743,452 |
A244T |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,116,807 |
|
probably null |
Het |
| Polr1a |
G |
A |
6: 71,953,070 |
V914M |
probably damaging |
Het |
| Rab15 |
A |
C |
12: 76,804,441 |
|
probably null |
Het |
| Rasgrf1 |
G |
T |
9: 89,994,694 |
S704I |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGG |
GGCGGCGGGCGCGGCGG |
7: 97,579,927 |
|
probably benign |
Het |
| Sart1 |
C |
A |
19: 5,388,585 |
G15W |
probably damaging |
Het |
| Scrib |
T |
C |
15: 76,047,393 |
*1666W |
probably null |
Het |
| Setd1b |
G |
C |
5: 123,146,559 |
R184P |
unknown |
Het |
| Sfxn2 |
A |
T |
19: 46,585,740 |
N123I |
probably damaging |
Het |
| Slc22a3 |
A |
G |
17: 12,458,496 |
W262R |
probably damaging |
Het |
| Slc38a10 |
A |
G |
11: 120,105,079 |
L1064P |
probably damaging |
Het |
| Sorcs2 |
A |
T |
5: 36,024,072 |
S1077R |
possibly damaging |
Het |
| Them7 |
G |
T |
2: 105,297,826 |
E51* |
probably null |
Het |
| Ubc |
A |
G |
5: 125,388,069 |
S65P |
possibly damaging |
Het |
| Ubqln3 |
A |
T |
7: 104,141,236 |
M549K |
possibly damaging |
Het |
| Vmn1r222 |
A |
G |
13: 23,232,359 |
L228P |
probably damaging |
Het |
| Vmn2r60 |
A |
G |
7: 42,195,111 |
T633A |
probably damaging |
Het |
| Zfp382 |
T |
C |
7: 30,133,275 |
V117A |
probably benign |
Het |
| Zic1 |
C |
T |
9: 91,365,692 |
|
probably benign |
Het |
| Zmym4 |
A |
T |
4: 126,925,616 |
F165I |
probably benign |
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 |
|
R6393:Med23
|
UTSW |
10 |
24,873,476 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
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 |
|
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'- CTTCTTACACACTTGCGAGCAG -3'
(R):5'- CTACCTCCTTGAGCACAGCTAC -3'
Sequencing Primer
(F):5'- ACACTTGCGAGCAGTGTGC -3'
(R):5'- GAGCACAGCTACTTTCCCCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation