Incidental Mutation 'R6107:Med23'
ID |
485562 |
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 |
044257-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6107 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 24781932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 713
(K713*)
|
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: K1073*
|
SMART Domains |
Protein: ENSMUSP00000020159 Gene: ENSMUSG00000019984 AA Change: K1073*
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000092646
AA Change: K1079*
|
SMART Domains |
Protein: ENSMUSP00000090316 Gene: ENSMUSG00000019984 AA Change: K1079*
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176285
AA Change: K713*
|
SMART Domains |
Protein: ENSMUSP00000135232 Gene: ENSMUSG00000019984 AA Change: K713*
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184228
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adgrl3 |
A |
G |
5: 81,836,410 (GRCm39) |
R723G |
probably damaging |
Het |
Ankrd52 |
C |
A |
10: 128,222,881 (GRCm39) |
N610K |
probably benign |
Het |
Atp2a3 |
A |
G |
11: 72,879,287 (GRCm39) |
|
probably null |
Het |
Bahcc1 |
G |
A |
11: 120,163,714 (GRCm39) |
A671T |
probably benign |
Het |
Col6a5 |
A |
T |
9: 105,769,471 (GRCm39) |
Y1764* |
probably null |
Het |
E2f8 |
A |
G |
7: 48,517,424 (GRCm39) |
V793A |
probably benign |
Het |
Erbin |
A |
G |
13: 103,970,400 (GRCm39) |
I1072T |
probably benign |
Het |
Exoc2 |
T |
C |
13: 31,060,780 (GRCm39) |
I575V |
probably benign |
Het |
Fbxw19 |
C |
T |
9: 109,324,834 (GRCm39) |
V28M |
probably damaging |
Het |
Flt1 |
G |
A |
5: 147,540,403 (GRCm39) |
T762M |
probably benign |
Het |
Ghitm |
C |
A |
14: 36,847,166 (GRCm39) |
A303S |
probably damaging |
Het |
Gm18856 |
T |
A |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
Gm5493 |
T |
A |
17: 22,967,069 (GRCm39) |
H68Q |
possibly damaging |
Het |
Hells |
T |
G |
19: 38,942,093 (GRCm39) |
I461S |
probably benign |
Het |
Inpp4a |
T |
A |
1: 37,416,829 (GRCm39) |
I450N |
probably damaging |
Het |
Kbtbd6 |
T |
A |
14: 79,690,553 (GRCm39) |
V353D |
probably damaging |
Het |
Kifap3 |
A |
T |
1: 163,696,338 (GRCm39) |
T656S |
possibly damaging |
Het |
Miga1 |
A |
T |
3: 152,041,036 (GRCm39) |
F44I |
probably benign |
Het |
Ngrn |
A |
G |
7: 79,911,625 (GRCm39) |
E74G |
probably damaging |
Het |
Or4k40 |
T |
C |
2: 111,251,000 (GRCm39) |
S99G |
probably benign |
Het |
Patl2 |
A |
T |
2: 121,957,967 (GRCm39) |
L97Q |
probably damaging |
Het |
Pcdha1 |
A |
G |
18: 37,065,354 (GRCm39) |
I673V |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,275,967 (GRCm39) |
T543A |
probably benign |
Het |
Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
Prl8a8 |
A |
G |
13: 27,695,447 (GRCm39) |
V100A |
possibly damaging |
Het |
Rnase10 |
T |
A |
14: 51,246,751 (GRCm39) |
V43E |
possibly damaging |
Het |
Robo1 |
A |
G |
16: 72,780,717 (GRCm39) |
S816G |
probably benign |
Het |
Slc25a34 |
C |
T |
4: 141,350,806 (GRCm39) |
V68M |
probably benign |
Het |
Slc25a48 |
A |
T |
13: 56,612,891 (GRCm39) |
E263V |
probably damaging |
Het |
Slc7a14 |
A |
G |
3: 31,311,759 (GRCm39) |
V87A |
probably damaging |
Het |
Slc8b1 |
A |
G |
5: 120,667,665 (GRCm39) |
I433V |
probably damaging |
Het |
Smurf1 |
A |
G |
5: 144,831,314 (GRCm39) |
V259A |
possibly damaging |
Het |
Spag6l |
T |
A |
16: 16,599,652 (GRCm39) |
N270I |
possibly damaging |
Het |
Tas2r113 |
G |
A |
6: 132,869,977 (GRCm39) |
V2M |
probably damaging |
Het |
Tnpo2 |
T |
C |
8: 85,780,104 (GRCm39) |
V680A |
probably damaging |
Het |
Ttyh3 |
A |
C |
5: 140,619,317 (GRCm39) |
|
probably null |
Het |
Ufl1 |
A |
G |
4: 25,251,999 (GRCm39) |
S639P |
possibly damaging |
Het |
Znfx1 |
A |
T |
2: 166,879,001 (GRCm39) |
F928I |
possibly damaging |
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 |
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 |
R7085:Med23
|
UTSW |
10 |
24,746,019 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GTTTTCTTCTTGACAGACCGG -3'
(R):5'- GCAATGAGGCTAAGGTTGGC -3'
Sequencing Primer
(F):5'- AGACCGGCCAGTGACTTATCTG -3'
(R):5'- TAAGGTTGGCCTAAGCAACTC -3'
|
Posted On |
2017-08-16 |