Incidental Mutation 'R4305:Med23'
| ID |
324002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med23
|
| Ensembl Gene |
ENSMUSG00000019984 |
| Gene Name |
mediator complex subunit 23 |
| Synonyms |
X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2 |
| MMRRC Submission |
041091-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4305 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
24869986-24913681 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 24904270 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 573
(E573*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020159
AA Change: E933*
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: E933*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000092646
AA Change: E939*
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: E939*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176285
AA Change: E573*
|
| SMART Domains |
Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: E573*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
92% (36/39) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
A |
1: 11,972,076 |
S440* |
probably null |
Het |
| Abl2 |
T |
A |
1: 156,641,563 |
M695K |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,229,481 |
I426T |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,341,992 |
M93T |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 124,125,074 |
L238P |
possibly damaging |
Het |
| Cd27 |
A |
G |
6: 125,234,670 |
V98A |
probably benign |
Het |
| Chrdl2 |
A |
G |
7: 100,022,022 |
T116A |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,526,520 |
|
probably null |
Het |
| Fam71f1 |
A |
G |
6: 29,326,612 |
S243G |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,633,992 |
E394G |
possibly damaging |
Het |
| Gm5155 |
T |
A |
7: 17,905,193 |
Y372N |
probably benign |
Het |
| Gm7173 |
C |
G |
X: 79,498,029 |
K469N |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,850,378 |
|
probably benign |
Het |
| Lpar6 |
G |
A |
14: 73,238,941 |
R114Q |
probably damaging |
Het |
| Mtch2 |
A |
G |
2: 90,859,483 |
I183V |
probably benign |
Het |
| Nlrp3 |
C |
T |
11: 59,548,010 |
R138* |
probably null |
Het |
| Notch1 |
T |
C |
2: 26,477,924 |
D657G |
probably damaging |
Het |
| Olfr1281 |
A |
G |
2: 111,329,298 |
D293G |
probably null |
Het |
| Rbm20 |
A |
G |
19: 53,843,260 |
S642G |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 100,933,415 |
A487S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,918,337 |
S4123G |
probably benign |
Het |
| Ugt3a1 |
A |
C |
15: 9,306,274 |
S170R |
possibly damaging |
Het |
| Vmn2r71 |
G |
T |
7: 85,624,152 |
D725Y |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,248,237 |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 20,208,422 |
T808A |
probably damaging |
Het |
| Zdhhc4 |
C |
T |
5: 143,324,344 |
|
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 |
24892592 |
nonsense |
probably null |
|
|
R3811:Med23
|
UTSW |
10 |
24892593 |
splice site |
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'- CTGATTTAAGGAGGCATGTGC -3'
(R):5'- TACTACATGGCGTGCTCAGC -3'
Sequencing Primer
(F):5'- ctttctctctcccttccttc -3'
(R):5'- TTATATAAGCCCCCTAGGTGATCCAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation