Incidental Mutation 'R3811:Med23'
| ID |
275198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med23
|
| Ensembl Gene |
ENSMUSG00000019984 |
| Gene Name |
mediator complex subunit 23 |
| Synonyms |
X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2 |
| MMRRC Submission |
040767-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3811 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
24869986-24913681 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 24892592 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 77
(R77*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000176502]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020159
AA Change: R437*
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: R437*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000092646
AA Change: R443*
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: R443*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175786
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176285
AA Change: R77*
|
| SMART Domains |
Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: R77*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
1 |
51 |
4.4e-14 |
PFAM |
|
Pfam:Med23
|
48 |
950 |
N/A |
PFAM |
|
| Predicted Effect |
silent
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 |
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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179967
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
97% (36/37) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
G |
T |
6: 34,799,729 |
S385I |
probably damaging |
Het |
| Arhgap28 |
G |
A |
17: 67,896,093 |
P122S |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,289,086 |
V73A |
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,443,305 |
R35H |
probably benign |
Het |
| Cacybp |
T |
C |
1: 160,203,652 |
D202G |
probably benign |
Het |
| Chsy3 |
C |
G |
18: 59,176,170 |
P165R |
probably benign |
Het |
| Creb3 |
C |
T |
4: 43,565,501 |
Q227* |
probably null |
Het |
| Crnkl1 |
C |
A |
2: 145,931,306 |
R140L |
probably damaging |
Het |
| Cyth4 |
A |
G |
15: 78,604,649 |
E39G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,191,498 |
T481A |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,779,124 |
I1003N |
possibly damaging |
Het |
| Galntl5 |
T |
C |
5: 25,186,180 |
F26L |
probably benign |
Het |
| Glrx5 |
C |
G |
12: 105,032,888 |
C63W |
probably damaging |
Het |
| Gm9602 |
T |
A |
14: 4,776,499 |
I28N |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,130,357 |
T900A |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,649,577 |
|
probably null |
Het |
| Ighv1-24 |
G |
T |
12: 114,773,065 |
L72I |
probably benign |
Het |
| Ilvbl |
G |
A |
10: 78,579,035 |
C244Y |
probably benign |
Het |
| Kat7 |
A |
G |
11: 95,291,615 |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,658,766 |
A421V |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,262,708 |
|
probably null |
Het |
| Mall |
T |
A |
2: 127,708,854 |
I129F |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,693,506 |
K1044* |
probably null |
Het |
| Metap2 |
A |
T |
10: 93,870,164 |
L252* |
probably null |
Het |
| Olfr1066 |
A |
T |
2: 86,455,347 |
V308E |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,132,715 |
V828D |
probably damaging |
Het |
| Psmd9 |
C |
T |
5: 123,234,590 |
|
probably benign |
Het |
| Rbbp5 |
T |
C |
1: 132,492,587 |
V59A |
probably damaging |
Het |
| Sco2 |
T |
C |
15: 89,373,679 |
|
probably benign |
Het |
| Slc32a1 |
G |
T |
2: 158,614,736 |
C437F |
possibly damaging |
Het |
| Spem2 |
T |
C |
11: 69,817,164 |
E325G |
possibly damaging |
Het |
| Steap4 |
A |
G |
5: 7,977,017 |
T327A |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,629,037 |
D70G |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,523,405 |
K99E |
probably benign |
Het |
|
| Other mutations in Med23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00670:Med23
|
APN |
10 |
24888584 |
missense |
probably damaging |
1.00 |
|
IGL00792:Med23
|
APN |
10 |
24877004 |
missense |
possibly damaging |
0.93 |
|
IGL01289:Med23
|
APN |
10 |
24902121 |
missense |
probably damaging |
1.00 |
|
IGL01469:Med23
|
APN |
10 |
24882597 |
missense |
probably damaging |
1.00 |
|
IGL01598:Med23
|
APN |
10 |
24903798 |
missense |
probably benign |
0.34 |
|
IGL02324:Med23
|
APN |
10 |
24897341 |
missense |
probably damaging |
0.98 |
|
IGL02381:Med23
|
APN |
10 |
24900728 |
missense |
possibly damaging |
0.95 |
|
IGL02465:Med23
|
APN |
10 |
24903743 |
missense |
probably damaging |
0.96 |
|
IGL02554:Med23
|
APN |
10 |
24898575 |
critical splice donor site |
probably null |
|
|
IGL02683:Med23
|
APN |
10 |
24870717 |
missense |
probably benign |
0.00 |
|
PIT4362001:Med23
|
UTSW |
10 |
24874571 |
missense |
probably benign |
0.01 |
|
R0080:Med23
|
UTSW |
10 |
24912817 |
missense |
probably benign |
0.33 |
|
R0125:Med23
|
UTSW |
10 |
24900788 |
missense |
probably damaging |
1.00 |
|
R0311:Med23
|
UTSW |
10 |
24897358 |
missense |
possibly damaging |
0.95 |
|
R0765:Med23
|
UTSW |
10 |
24900710 |
missense |
probably damaging |
1.00 |
|
R1302:Med23
|
UTSW |
10 |
24888422 |
splice site |
probably null |
|
|
R1456:Med23
|
UTSW |
10 |
24903652 |
splice site |
probably benign |
|
|
R1514:Med23
|
UTSW |
10 |
24892667 |
splice site |
probably benign |
|
|
R1774:Med23
|
UTSW |
10 |
24903686 |
missense |
probably damaging |
1.00 |
|
R1851:Med23
|
UTSW |
10 |
24910870 |
splice site |
probably null |
|
|
R1928:Med23
|
UTSW |
10 |
24909812 |
missense |
probably benign |
|
|
R1975:Med23
|
UTSW |
10 |
24910766 |
missense |
probably benign |
0.01 |
|
R2011:Med23
|
UTSW |
10 |
24879755 |
missense |
possibly damaging |
0.63 |
|
R2266:Med23
|
UTSW |
10 |
24874601 |
missense |
probably benign |
0.00 |
|
R2309:Med23
|
UTSW |
10 |
24870688 |
missense |
probably damaging |
0.99 |
|
R2507:Med23
|
UTSW |
10 |
24910813 |
missense |
probably damaging |
1.00 |
|
R2566:Med23
|
UTSW |
10 |
24888575 |
missense |
probably damaging |
1.00 |
|
R3720:Med23
|
UTSW |
10 |
24891120 |
missense |
probably damaging |
1.00 |
|
R3771:Med23
|
UTSW |
10 |
24902201 |
missense |
probably damaging |
1.00 |
|
R3811:Med23
|
UTSW |
10 |
24892593 |
splice site |
probably null |
|
|
R4305:Med23
|
UTSW |
10 |
24904270 |
nonsense |
probably null |
|
|
R4323:Med23
|
UTSW |
10 |
24870705 |
missense |
probably benign |
0.02 |
|
R4701:Med23
|
UTSW |
10 |
24893648 |
missense |
probably damaging |
1.00 |
|
R4886:Med23
|
UTSW |
10 |
24874683 |
critical splice donor site |
probably null |
|
|
R4925:Med23
|
UTSW |
10 |
24910747 |
missense |
probably damaging |
1.00 |
|
R4943:Med23
|
UTSW |
10 |
24875669 |
missense |
possibly damaging |
0.92 |
|
R5207:Med23
|
UTSW |
10 |
24895836 |
nonsense |
probably null |
|
|
R5749:Med23
|
UTSW |
10 |
24888449 |
missense |
possibly damaging |
0.84 |
|
R5806:Med23
|
UTSW |
10 |
24907221 |
missense |
probably damaging |
1.00 |
|
R5896:Med23
|
UTSW |
10 |
24902145 |
missense |
probably damaging |
1.00 |
|
R5954:Med23
|
UTSW |
10 |
24870483 |
splice site |
probably benign |
|
|
R6031:Med23
|
UTSW |
10 |
24903748 |
nonsense |
probably null |
|
|
R6031:Med23
|
UTSW |
10 |
24903748 |
nonsense |
probably null |
|
|
R6093:Med23
|
UTSW |
10 |
24878443 |
missense |
probably benign |
0.16 |
|
R6107:Med23
|
UTSW |
10 |
24906034 |
nonsense |
probably null |
|
|
R6356:Med23
|
UTSW |
10 |
24888413 |
missense |
probably damaging |
0.98 |
|
R6393:Med23
|
UTSW |
10 |
24873476 |
missense |
possibly damaging |
0.91 |
|
R6533:Med23
|
UTSW |
10 |
24893620 |
missense |
probably damaging |
1.00 |
|
R6911:Med23
|
UTSW |
10 |
24902181 |
missense |
probably damaging |
0.98 |
|
R6981:Med23
|
UTSW |
10 |
24895824 |
missense |
possibly damaging |
0.92 |
|
R7085:Med23
|
UTSW |
10 |
24870121 |
missense |
probably damaging |
1.00 |
|
R7215:Med23
|
UTSW |
10 |
24888429 |
missense |
probably benign |
|
|
R7229:Med23
|
UTSW |
10 |
24902004 |
missense |
probably benign |
|
|
R7489:Med23
|
UTSW |
10 |
24904356 |
missense |
probably damaging |
1.00 |
|
R7530:Med23
|
UTSW |
10 |
24905953 |
missense |
probably benign |
0.00 |
|
R7643:Med23
|
UTSW |
10 |
24905965 |
missense |
probably benign |
0.01 |
|
R7653:Med23
|
UTSW |
10 |
24904384 |
missense |
probably damaging |
1.00 |
|
R7764:Med23
|
UTSW |
10 |
24909920 |
critical splice donor site |
probably null |
|
|
R7784:Med23
|
UTSW |
10 |
24902448 |
missense |
probably damaging |
1.00 |
|
R8024:Med23
|
UTSW |
10 |
24879683 |
missense |
possibly damaging |
0.74 |
|
R8182:Med23
|
UTSW |
10 |
24912807 |
missense |
probably benign |
|
|
R8412:Med23
|
UTSW |
10 |
24908734 |
missense |
probably benign |
0.01 |
|
R8874:Med23
|
UTSW |
10 |
24895719 |
missense |
possibly damaging |
0.92 |
|
R8975:Med23
|
UTSW |
10 |
24904436 |
missense |
probably benign |
0.42 |
|
R9131:Med23
|
UTSW |
10 |
24904381 |
missense |
|
|
|
R9202:Med23
|
UTSW |
10 |
24904304 |
missense |
probably benign |
0.12 |
|
R9341:Med23
|
UTSW |
10 |
24912807 |
missense |
probably benign |
|
|
R9342:Med23
|
UTSW |
10 |
24874571 |
missense |
probably benign |
0.01 |
|
R9343:Med23
|
UTSW |
10 |
24912807 |
missense |
probably benign |
|
|
R9412:Med23
|
UTSW |
10 |
24902121 |
missense |
probably damaging |
1.00 |
|
RF003:Med23
|
UTSW |
10 |
24903785 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCAAAGAGCTATTGGGGC -3'
(R):5'- CAGGGTTAACTATCAGCCTACTGG -3'
Sequencing Primer
(F):5'- CTAAGCTAAGATAGGAGTTCTAACGC -3'
(R):5'- GGCCGTGTGGGAGACATC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation