Incidental Mutation 'R1302:Med23'
| ID |
158429 |
| 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 |
039368-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1302 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 24764320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 damaging
Transcript: ENSMUST00000020159
AA Change: L303Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: L303Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092646
AA Change: L309Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: L309Q
| 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
|
| 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 damaging
Transcript: ENSMUST00000176502
AA Change: L101Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134836
Gene: ENSMUSG00000019984
AA Change: L101Q
| 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
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.2%
|
| 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 |
|---|
| 2810004N23Rik |
A |
T |
8: 125,566,607 (GRCm39) |
I271N |
probably damaging |
Het |
| 5031439G07Rik |
A |
G |
15: 84,837,477 (GRCm39) |
Y279H |
probably damaging |
Het |
| Abcg2 |
T |
A |
6: 58,662,802 (GRCm39) |
M548K |
probably damaging |
Het |
| Acat1 |
T |
C |
9: 53,500,525 (GRCm39) |
D257G |
possibly damaging |
Het |
| Adamts4 |
G |
A |
1: 171,080,752 (GRCm39) |
G360R |
probably damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,322,328 (GRCm39) |
D238G |
probably damaging |
Het |
| Ankrd1 |
C |
T |
19: 36,092,403 (GRCm39) |
G275S |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,480,890 (GRCm39) |
M1K |
probably null |
Het |
| Atf7ip2 |
T |
C |
16: 10,058,472 (GRCm39) |
S304P |
possibly damaging |
Het |
| Casp4 |
T |
A |
9: 5,328,518 (GRCm39) |
C333* |
probably null |
Het |
| Ccdc68 |
G |
A |
18: 70,072,033 (GRCm39) |
V37M |
probably damaging |
Het |
| Cda |
T |
A |
4: 138,078,502 (GRCm39) |
I87F |
probably damaging |
Het |
| Chst1 |
A |
T |
2: 92,443,864 (GRCm39) |
D112V |
probably damaging |
Het |
| Chtf18 |
T |
C |
17: 25,938,132 (GRCm39) |
D967G |
probably damaging |
Het |
| Col5a1 |
A |
G |
2: 27,895,248 (GRCm39) |
R1106G |
probably damaging |
Het |
| Coro1b |
T |
G |
19: 4,199,376 (GRCm39) |
F12V |
probably damaging |
Het |
| Ctif |
G |
T |
18: 75,654,749 (GRCm39) |
P259Q |
probably benign |
Het |
| Duox1 |
A |
T |
2: 122,177,760 (GRCm39) |
I1515F |
probably benign |
Het |
| Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,501,050 (GRCm39) |
Y1328H |
possibly damaging |
Het |
| Frem2 |
T |
C |
3: 53,562,959 (GRCm39) |
D516G |
probably benign |
Het |
| Gin1 |
A |
T |
1: 97,703,314 (GRCm39) |
K46* |
probably null |
Het |
| Gle1 |
C |
G |
2: 29,842,564 (GRCm39) |
|
probably null |
Het |
| Gm11146 |
T |
G |
16: 77,398,970 (GRCm39) |
I5L |
unknown |
Het |
| Gpr153 |
C |
T |
4: 152,364,400 (GRCm39) |
T152M |
probably damaging |
Het |
| H1f8 |
A |
T |
6: 115,924,610 (GRCm39) |
R39* |
probably null |
Het |
| Hdlbp |
A |
T |
1: 93,351,107 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
A |
T |
1: 173,562,861 (GRCm39) |
L95Q |
possibly damaging |
Het |
| Ikzf3 |
G |
T |
11: 98,407,746 (GRCm39) |
P32T |
probably benign |
Het |
| Ints10 |
T |
A |
8: 69,279,964 (GRCm39) |
V697E |
probably damaging |
Het |
| Krt14 |
A |
G |
11: 100,094,173 (GRCm39) |
S474P |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,203,667 (GRCm39) |
I388F |
unknown |
Het |
| Ldha |
A |
C |
7: 46,497,063 (GRCm39) |
Q7P |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,161,267 (GRCm39) |
S232P |
probably benign |
Het |
| Med1 |
G |
T |
11: 98,048,275 (GRCm39) |
D840E |
possibly damaging |
Het |
| Naip5 |
G |
A |
13: 100,358,099 (GRCm39) |
P1046S |
possibly damaging |
Het |
| Ndufa4l2 |
A |
T |
10: 127,351,301 (GRCm39) |
M31L |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,371 (GRCm39) |
S425P |
possibly damaging |
Het |
| Nova1 |
A |
T |
12: 46,767,581 (GRCm39) |
H113Q |
unknown |
Het |
| Npc1 |
T |
C |
18: 12,328,142 (GRCm39) |
K1056E |
probably benign |
Het |
| Nrbp1 |
A |
G |
5: 31,407,233 (GRCm39) |
H354R |
probably benign |
Het |
| Ogfod3 |
A |
G |
11: 121,074,300 (GRCm39) |
F250L |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,731,647 (GRCm39) |
D3383G |
unknown |
Het |
| Pde1b |
T |
A |
15: 103,436,026 (GRCm39) |
D457E |
probably benign |
Het |
| Pkd1 |
C |
G |
17: 24,787,210 (GRCm39) |
S581R |
probably benign |
Het |
| Pno1 |
T |
A |
11: 17,154,545 (GRCm39) |
Q212L |
probably benign |
Het |
| Polr3b |
C |
T |
10: 84,468,350 (GRCm39) |
P112L |
probably damaging |
Het |
| Pomk |
T |
A |
8: 26,473,102 (GRCm39) |
I284F |
probably damaging |
Het |
| Rapgef4 |
A |
T |
2: 71,875,504 (GRCm39) |
D119V |
probably benign |
Het |
| Rprm |
A |
T |
2: 53,975,165 (GRCm39) |
L51Q |
probably benign |
Het |
| Spata31e5 |
A |
T |
1: 28,815,421 (GRCm39) |
D870E |
probably benign |
Het |
| Taok3 |
A |
C |
5: 117,337,108 (GRCm39) |
S58R |
possibly damaging |
Het |
| Tmprss9 |
T |
A |
10: 80,730,963 (GRCm39) |
S830T |
probably benign |
Het |
| Tnfrsf1a |
G |
A |
6: 125,333,879 (GRCm39) |
C44Y |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,041,723 (GRCm39) |
D235E |
possibly damaging |
Het |
| Vapb |
C |
A |
2: 173,613,330 (GRCm39) |
F76L |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,465 (GRCm39) |
I700V |
probably damaging |
Het |
| Wwc1 |
G |
A |
11: 35,734,984 (GRCm39) |
R964W |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,782,765 (GRCm39) |
V1203D |
probably 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 |
|
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 |
|
R6107:Med23
|
UTSW |
10 |
24,781,932 (GRCm39) |
nonsense |
probably null |
|
|
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'- TGTGCTAACAGGACAGGATGCAGC -3'
(R):5'- CCACACTAAGGAGCAGCAGGATTG -3'
Sequencing Primer
(F):5'- GACAGGATGCAGCTTTAATAGAC -3'
(R):5'- CATACCTTCTGGTGGAGAGAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation