Incidental Mutation 'R1975:Med23'
ID |
221597 |
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 |
039988-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1975 (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 24786664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 923
(N923K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000020161]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000177232]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020159
AA Change: N1283K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020159 Gene: ENSMUSG00000019984 AA Change: N1283K
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000020161
|
SMART Domains |
Protein: ENSMUSP00000020161 Gene: ENSMUSG00000019987
Domain | Start | End | E-Value | Type |
Pfam:Arginase
|
6 |
305 |
1.4e-79 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092646
AA Change: N1289K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000090316 Gene: ENSMUSG00000019984 AA Change: N1289K
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176285
AA Change: N923K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000135232 Gene: ENSMUSG00000019984 AA Change: N923K
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
|
Meta Mutation Damage Score |
0.0605 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
96% (71/74) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad12 |
T |
C |
5: 121,742,322 (GRCm39) |
T429A |
probably benign |
Het |
Afmid |
A |
C |
11: 117,727,300 (GRCm39) |
I275L |
probably benign |
Het |
Aimp1 |
A |
C |
3: 132,382,860 (GRCm39) |
D5E |
possibly damaging |
Het |
Aldob |
G |
A |
4: 49,538,171 (GRCm39) |
A319V |
probably benign |
Het |
Ankar |
C |
T |
1: 72,697,600 (GRCm39) |
V1068I |
possibly damaging |
Het |
Ccr2 |
C |
T |
9: 123,906,830 (GRCm39) |
S370L |
probably benign |
Het |
Chrnb4 |
A |
G |
9: 54,942,102 (GRCm39) |
Y391H |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,761,281 (GRCm39) |
M873T |
possibly damaging |
Het |
Cspg4 |
G |
C |
9: 56,797,762 (GRCm39) |
G1409R |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 117,987,362 (GRCm39) |
L1320* |
probably null |
Het |
Dock4 |
T |
C |
12: 40,829,641 (GRCm39) |
|
probably benign |
Het |
Eml4 |
T |
C |
17: 83,717,622 (GRCm39) |
S65P |
probably benign |
Het |
Fblim1 |
A |
T |
4: 141,312,175 (GRCm39) |
D183E |
probably damaging |
Het |
Foxn1 |
T |
C |
11: 78,256,763 (GRCm39) |
|
probably benign |
Het |
Gm973 |
A |
T |
1: 59,601,930 (GRCm39) |
T515S |
possibly damaging |
Het |
Hdac7 |
G |
A |
15: 97,704,386 (GRCm39) |
Q495* |
probably null |
Het |
Hipk3 |
T |
C |
2: 104,301,518 (GRCm39) |
I225V |
probably benign |
Het |
Hrc |
A |
T |
7: 44,985,638 (GRCm39) |
D263V |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 119,375,888 (GRCm39) |
I21T |
probably benign |
Het |
Il15ra |
A |
G |
2: 11,728,334 (GRCm39) |
T133A |
possibly damaging |
Het |
Krt78 |
T |
C |
15: 101,854,603 (GRCm39) |
*1069W |
probably null |
Het |
Lama3 |
T |
A |
18: 12,586,920 (GRCm39) |
M761K |
probably damaging |
Het |
Lonp1 |
T |
C |
17: 56,922,068 (GRCm39) |
T771A |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,383,005 (GRCm39) |
T1320A |
probably damaging |
Het |
Mark3 |
A |
T |
12: 111,581,875 (GRCm39) |
I115L |
probably damaging |
Het |
Mcph1 |
T |
G |
8: 18,739,081 (GRCm39) |
|
probably benign |
Het |
Msrb2 |
T |
G |
2: 19,398,032 (GRCm39) |
Y97D |
probably damaging |
Het |
Muc6 |
C |
T |
7: 141,234,368 (GRCm39) |
G708S |
probably damaging |
Het |
Mylk |
T |
C |
16: 34,700,673 (GRCm39) |
|
probably null |
Het |
Nfrkb |
T |
A |
9: 31,325,980 (GRCm39) |
V1141E |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,958,555 (GRCm39) |
E3675G |
probably damaging |
Het |
Or11h7 |
T |
A |
14: 50,890,821 (GRCm39) |
N42K |
probably damaging |
Het |
Or2l5 |
G |
A |
16: 19,333,586 (GRCm39) |
P267S |
probably damaging |
Het |
Or2t6 |
A |
T |
14: 14,175,446 (GRCm38) |
V212E |
probably damaging |
Het |
Or51aa2 |
A |
T |
7: 103,188,201 (GRCm39) |
F80Y |
probably damaging |
Het |
Or52z14 |
A |
G |
7: 103,253,219 (GRCm39) |
|
probably null |
Het |
Or5ac21 |
T |
C |
16: 59,124,091 (GRCm39) |
S193P |
probably damaging |
Het |
Or8k21 |
C |
G |
2: 86,145,498 (GRCm39) |
G44A |
probably damaging |
Het |
Pan2 |
T |
C |
10: 128,156,282 (GRCm39) |
V1171A |
probably damaging |
Het |
Pdgfc |
C |
T |
3: 81,116,552 (GRCm39) |
T302I |
probably damaging |
Het |
Pkhd1l1 |
G |
T |
15: 44,393,109 (GRCm39) |
V1815F |
probably damaging |
Het |
Pnpt1 |
A |
G |
11: 29,091,256 (GRCm39) |
I337V |
probably benign |
Het |
Psma8 |
T |
G |
18: 14,864,033 (GRCm39) |
|
probably null |
Het |
Rbl2 |
T |
C |
8: 91,812,090 (GRCm39) |
S220P |
probably benign |
Het |
Rere |
T |
A |
4: 150,700,190 (GRCm39) |
D1091E |
probably damaging |
Het |
Rpa1 |
A |
G |
11: 75,197,002 (GRCm39) |
C540R |
probably damaging |
Het |
Sema3d |
T |
A |
5: 12,613,285 (GRCm39) |
V454E |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,634,965 (GRCm39) |
V677A |
probably benign |
Het |
Sgk2 |
A |
G |
2: 162,846,080 (GRCm39) |
N207S |
probably benign |
Het |
Sirpb1a |
T |
C |
3: 15,444,141 (GRCm39) |
I370V |
probably benign |
Het |
Slc22a19 |
A |
G |
19: 7,661,224 (GRCm39) |
|
probably benign |
Het |
Slc26a1 |
T |
A |
5: 108,820,338 (GRCm39) |
D287V |
probably damaging |
Het |
Slc36a4 |
T |
A |
9: 15,645,506 (GRCm39) |
V311D |
probably damaging |
Het |
Slco1b2 |
A |
T |
6: 141,628,951 (GRCm39) |
Y551F |
probably damaging |
Het |
Slco2a1 |
T |
A |
9: 102,956,653 (GRCm39) |
Y488* |
probably null |
Het |
Stab2 |
A |
C |
10: 86,732,360 (GRCm39) |
|
probably null |
Het |
Strn |
T |
C |
17: 78,999,928 (GRCm39) |
|
probably null |
Het |
Tbxas1 |
A |
G |
6: 38,925,575 (GRCm39) |
|
probably benign |
Het |
Thumpd3 |
A |
G |
6: 113,032,838 (GRCm39) |
N192S |
possibly damaging |
Het |
Tns3 |
T |
A |
11: 8,385,738 (GRCm39) |
I1386F |
probably benign |
Het |
Treml4 |
T |
A |
17: 48,579,821 (GRCm39) |
V219E |
probably damaging |
Het |
Triobp |
T |
C |
15: 78,850,908 (GRCm39) |
V354A |
probably benign |
Het |
Tspan8 |
A |
G |
10: 115,680,035 (GRCm39) |
I217V |
probably benign |
Het |
Tub |
G |
A |
7: 108,627,042 (GRCm39) |
G314R |
possibly damaging |
Het |
Ube3b |
C |
T |
5: 114,537,926 (GRCm39) |
T339M |
possibly damaging |
Het |
Vmn2r43 |
A |
G |
7: 8,258,550 (GRCm39) |
I221T |
possibly damaging |
Het |
Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
Zfp110 |
C |
T |
7: 12,582,429 (GRCm39) |
T359I |
probably benign |
Het |
Zfp322a |
A |
T |
13: 23,541,074 (GRCm39) |
C223S |
probably damaging |
Het |
Zfp512b |
G |
A |
2: 181,228,878 (GRCm39) |
R696* |
probably null |
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 |
|
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'- GTGTCCTATGTGCATAGCGATG -3'
(R):5'- GTTCTCCTGTGGCCTTAAGAG -3'
Sequencing Primer
(F):5'- CATAGCGATGCATGGGCTG -3'
(R):5'- CCTGTGGCCTTAAGAGGTTAGATAC -3'
|
Posted On |
2014-08-25 |