Incidental Mutation 'R4943:Med23'
| ID |
383278 |
| 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 |
042540-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4943 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24751567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 133
(V133D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176313]
[ENSMUST00000176502]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020159
AA Change: V160D
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: V160D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092646
AA Change: V160D
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: V160D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176313
AA Change: V133D
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135751
Gene: ENSMUSG00000019984
AA Change: V133D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
1 |
197 |
1.7e-75 |
PFAM |
|
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000177175
|
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
99% (81/82) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
A |
13: 77,393,446 (GRCm39) |
T366K |
possibly damaging |
Het |
| 2510039O18Rik |
T |
A |
4: 148,029,555 (GRCm39) |
H508Q |
probably damaging |
Het |
| Aadacl4fm5 |
T |
A |
4: 144,504,290 (GRCm39) |
E287V |
probably benign |
Het |
| Actl9 |
G |
A |
17: 33,652,059 (GRCm39) |
V40M |
possibly damaging |
Het |
| Aen |
T |
A |
7: 78,552,109 (GRCm39) |
V23E |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,069,764 (GRCm39) |
R432K |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,398,988 (GRCm39) |
F2689I |
probably benign |
Het |
| Arhgap45 |
A |
G |
10: 79,862,337 (GRCm39) |
S475G |
probably benign |
Het |
| Atg7 |
A |
C |
6: 114,674,045 (GRCm39) |
Q231P |
probably benign |
Het |
| Calr3 |
A |
T |
8: 73,185,221 (GRCm39) |
V226D |
probably benign |
Het |
| Cldn10 |
G |
A |
14: 119,025,725 (GRCm39) |
G53S |
possibly damaging |
Het |
| Cops4 |
A |
T |
5: 100,695,292 (GRCm39) |
M404L |
probably benign |
Het |
| Cpne4 |
A |
T |
9: 104,896,972 (GRCm39) |
H375L |
probably damaging |
Het |
| D16Ertd472e |
A |
T |
16: 78,372,877 (GRCm39) |
V20D |
probably damaging |
Het |
| Dcun1d5 |
T |
C |
9: 7,186,844 (GRCm39) |
F55L |
possibly damaging |
Het |
| Dhx8 |
T |
A |
11: 101,628,526 (GRCm39) |
L93* |
probably null |
Het |
| Dtx4 |
A |
G |
19: 12,478,424 (GRCm39) |
L53P |
probably damaging |
Het |
| Ern2 |
C |
T |
7: 121,772,481 (GRCm39) |
R659H |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,812,092 (GRCm39) |
A1392T |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,169,859 (GRCm39) |
R2967G |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,034,322 (GRCm39) |
D2658G |
probably benign |
Het |
| Ftsj3 |
A |
G |
11: 106,140,344 (GRCm39) |
V808A |
probably damaging |
Het |
| Gm10447 |
A |
T |
11: 53,347,216 (GRCm39) |
Y104* |
probably null |
Het |
| Gm27013 |
A |
T |
6: 130,653,163 (GRCm39) |
C766* |
probably null |
Het |
| Gm5581 |
A |
G |
6: 131,144,088 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
G |
A |
2: 21,831,968 (GRCm39) |
V1023I |
probably damaging |
Het |
| Hectd2 |
T |
G |
19: 36,581,647 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
C |
2: 31,225,504 (GRCm39) |
Y138H |
probably damaging |
Het |
| Kif28 |
T |
C |
1: 179,541,516 (GRCm39) |
I369V |
probably benign |
Het |
| Kif4-ps |
C |
T |
12: 101,115,476 (GRCm39) |
|
noncoding transcript |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,202,262 (GRCm39) |
M164I |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,058,754 (GRCm39) |
I1050V |
probably damaging |
Het |
| Mycn |
A |
T |
12: 12,987,080 (GRCm39) |
L439Q |
probably damaging |
Het |
| Myh2 |
G |
T |
11: 67,088,143 (GRCm39) |
A1920S |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,541,585 (GRCm39) |
V1392A |
possibly damaging |
Het |
| Nktr |
T |
A |
9: 121,549,020 (GRCm39) |
|
probably benign |
Het |
| Nme3 |
A |
G |
17: 25,115,697 (GRCm39) |
K48E |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,186,387 (GRCm39) |
R58G |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,201,574 (GRCm39) |
E1270G |
probably damaging |
Het |
| Or12d16-ps1 |
G |
T |
17: 37,705,916 (GRCm39) |
A162S |
probably benign |
Het |
| Or4e2 |
C |
G |
14: 52,688,051 (GRCm39) |
Y60* |
probably null |
Het |
| Or51l4 |
A |
T |
7: 103,404,503 (GRCm39) |
F96L |
probably benign |
Het |
| Or8c20 |
C |
T |
9: 38,260,924 (GRCm39) |
H176Y |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,762,651 (GRCm39) |
L3708P |
unknown |
Het |
| Pde4dip |
A |
T |
3: 97,662,827 (GRCm39) |
N590K |
probably damaging |
Het |
| Prokr1 |
A |
C |
6: 87,558,806 (GRCm39) |
I193S |
possibly damaging |
Het |
| Pxdc1 |
C |
A |
13: 34,822,989 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
T |
3: 78,971,854 (GRCm39) |
S1494T |
probably benign |
Het |
| Rbms3 |
G |
C |
9: 116,507,573 (GRCm39) |
|
probably benign |
Het |
| Reep3 |
T |
A |
10: 66,932,042 (GRCm39) |
|
probably benign |
Het |
| Rwdd2b |
T |
C |
16: 87,231,422 (GRCm39) |
K244R |
possibly damaging |
Het |
| Srrm2 |
T |
C |
17: 24,041,389 (GRCm39) |
V2533A |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,790,026 (GRCm39) |
Y580C |
probably damaging |
Het |
| Stac2 |
G |
T |
11: 97,932,398 (GRCm39) |
S198R |
probably benign |
Het |
| Tdp2 |
T |
A |
13: 25,022,248 (GRCm39) |
N222K |
probably benign |
Het |
| Tex21 |
A |
G |
12: 76,268,474 (GRCm39) |
S103P |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,943,930 (GRCm39) |
I183F |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,878,625 (GRCm39) |
I256V |
probably damaging |
Het |
| Tmem207 |
C |
T |
16: 26,336,603 (GRCm39) |
W50* |
probably null |
Het |
| Trpm2 |
C |
A |
10: 77,801,841 (GRCm39) |
V75L |
probably damaging |
Het |
| Vmn1r227 |
A |
T |
17: 20,955,623 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r13 |
C |
A |
5: 109,322,915 (GRCm39) |
V125L |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,814,705 (GRCm39) |
S263T |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,547,882 (GRCm39) |
V140I |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,875,697 (GRCm39) |
I145M |
possibly damaging |
Het |
| Zan |
G |
A |
5: 137,456,152 (GRCm39) |
T1336I |
unknown |
Het |
| Zdbf2 |
G |
T |
1: 63,342,073 (GRCm39) |
V151F |
possibly damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,674,949 (GRCm39) |
S2000P |
probably damaging |
Het |
| Zfp65 |
T |
A |
13: 67,859,099 (GRCm39) |
I12F |
probably damaging |
Het |
| Zfp703 |
C |
A |
8: 27,469,619 (GRCm39) |
Q428K |
probably benign |
Het |
| Zfp947 |
A |
C |
17: 22,364,813 (GRCm39) |
M287R |
probably benign |
Het |
| Zfp976 |
A |
T |
7: 42,261,846 (GRCm39) |
|
probably benign |
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 |
|
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'- TGTGACCTAGAAGCAGTGTATACTTC -3'
(R):5'- AACACAGGGCTATGGCATTGG -3'
Sequencing Primer
(F):5'- AGCAGTGTATACTTCTGACACCTGG -3'
(R):5'- AGGGTGCATGCCTGGCTTC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation