Incidental Mutation 'R7215:Med23'
| ID |
561398 |
| 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 |
045287-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 24764327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 311
(D311E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000176502]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020159
AA Change: D305E
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: D305E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092646
AA Change: D311E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: D311E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000176502
AA Change: D103E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134836
Gene: ENSMUSG00000019984
AA Change: D103E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
1 |
95 |
8.7e-36 |
PFAM |
|
Pfam:Med23
|
92 |
234 |
3.8e-63 |
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 |
0.0676 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (79/81) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
G |
A |
13: 77,471,690 (GRCm39) |
V1032M |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,238,405 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
T |
A |
10: 61,047,375 (GRCm39) |
H739L |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,841,397 (GRCm39) |
E758G |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,496,277 (GRCm39) |
T826S |
probably damaging |
Het |
| Arhgap45 |
C |
T |
10: 79,861,316 (GRCm39) |
T493I |
possibly damaging |
Het |
| Atg9b |
A |
C |
5: 24,593,039 (GRCm39) |
W455G |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,416,785 (GRCm39) |
N496S |
possibly damaging |
Het |
| Bckdk |
T |
A |
7: 127,504,282 (GRCm39) |
D60E |
possibly damaging |
Het |
| Blmh |
A |
T |
11: 76,856,725 (GRCm39) |
K244* |
probably null |
Het |
| Btbd17 |
T |
C |
11: 114,682,291 (GRCm39) |
I474V |
possibly damaging |
Het |
| C87436 |
A |
G |
6: 86,439,662 (GRCm39) |
E451G |
possibly damaging |
Het |
| Camta1 |
T |
C |
4: 151,229,194 (GRCm39) |
E546G |
probably damaging |
Het |
| Casp1 |
A |
G |
9: 5,298,523 (GRCm39) |
|
probably null |
Het |
| Ccdc116 |
A |
G |
16: 16,957,792 (GRCm39) |
Y456H |
probably damaging |
Het |
| Cep350 |
A |
C |
1: 155,770,453 (GRCm39) |
S1812R |
possibly damaging |
Het |
| Chrna10 |
A |
G |
7: 101,761,415 (GRCm39) |
L392P |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,842,181 (GRCm39) |
C434* |
probably null |
Het |
| Cxcl9 |
G |
A |
5: 92,471,747 (GRCm39) |
Q98* |
probably null |
Het |
| Cyp2c54 |
G |
A |
19: 40,034,626 (GRCm39) |
T348I |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,657,509 (GRCm39) |
R756C |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,815,034 (GRCm39) |
T239A |
probably benign |
Het |
| Dnase2a |
A |
T |
8: 85,636,399 (GRCm39) |
|
probably null |
Het |
| Dpyd |
A |
G |
3: 119,059,681 (GRCm39) |
T793A |
probably benign |
Het |
| Edil3 |
T |
C |
13: 88,970,169 (GRCm39) |
|
probably null |
Het |
| Ehd1 |
T |
A |
19: 6,347,672 (GRCm39) |
I342N |
possibly damaging |
Het |
| Erbb4 |
A |
T |
1: 68,378,619 (GRCm39) |
S341T |
probably benign |
Het |
| Ezh1 |
T |
A |
11: 101,106,125 (GRCm39) |
T87S |
probably benign |
Het |
| Fam20b |
A |
T |
1: 156,518,123 (GRCm39) |
W224R |
probably damaging |
Het |
| Galns |
A |
T |
8: 123,326,087 (GRCm39) |
|
probably null |
Het |
| Gm13283 |
C |
T |
4: 88,678,967 (GRCm39) |
|
probably benign |
Het |
| Gm49342 |
A |
T |
14: 51,182,040 (GRCm39) |
M23L |
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,060,795 (GRCm39) |
H18L |
probably benign |
Het |
| Gpr89 |
A |
G |
3: 96,787,404 (GRCm39) |
W299R |
probably damaging |
Het |
| Hadha |
G |
T |
5: 30,324,840 (GRCm39) |
N755K |
probably benign |
Het |
| Inpp5d |
A |
T |
1: 87,628,940 (GRCm39) |
H620L |
probably benign |
Het |
| Klk1b3 |
T |
A |
7: 43,849,828 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,401,097 (GRCm39) |
T663A |
probably damaging |
Het |
| Man1b1 |
A |
G |
2: 25,240,402 (GRCm39) |
N601S |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,251,307 (GRCm39) |
V605A |
possibly damaging |
Het |
| Myo3a |
G |
T |
2: 22,250,378 (GRCm39) |
D82Y |
possibly damaging |
Het |
| Nsd1 |
T |
A |
13: 55,395,454 (GRCm39) |
D1121E |
probably benign |
Het |
| Odad1 |
C |
T |
7: 45,586,046 (GRCm39) |
R148C |
probably damaging |
Het |
| Or4c116 |
G |
A |
2: 88,942,845 (GRCm39) |
Q4* |
probably null |
Het |
| Or5al1 |
C |
T |
2: 85,989,800 (GRCm39) |
V305I |
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,584,743 (GRCm39) |
I12T |
probably benign |
Het |
| Otoa |
T |
C |
7: 120,717,795 (GRCm39) |
V19A |
unknown |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,439 (GRCm39) |
T322S |
probably benign |
Het |
| Pecam1 |
T |
C |
11: 106,586,745 (GRCm39) |
T257A |
probably benign |
Het |
| Pi16 |
G |
T |
17: 29,538,072 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
C |
T |
6: 139,700,589 (GRCm39) |
T293M |
|
Het |
| Pira13 |
C |
T |
7: 3,825,310 (GRCm39) |
C444Y |
unknown |
Het |
| Pkhd1l1 |
T |
A |
15: 44,391,559 (GRCm39) |
C1542S |
possibly damaging |
Het |
| Prrc2b |
G |
A |
2: 32,119,309 (GRCm39) |
G2172R |
probably damaging |
Het |
| Prrt1 |
A |
T |
17: 34,848,677 (GRCm39) |
|
probably null |
Het |
| Ptprb |
T |
A |
10: 116,174,681 (GRCm39) |
N784K |
possibly damaging |
Het |
| Rem1 |
C |
A |
2: 152,470,069 (GRCm39) |
S18R |
probably damaging |
Het |
| Ripk4 |
G |
A |
16: 97,548,523 (GRCm39) |
|
probably null |
Het |
| Scn8a |
G |
A |
15: 100,927,711 (GRCm39) |
V1397I |
possibly damaging |
Het |
| Setbp1 |
T |
A |
18: 78,900,052 (GRCm39) |
H1205L |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,692,361 (GRCm39) |
I132V |
probably damaging |
Het |
| Slc24a1 |
T |
A |
9: 64,835,785 (GRCm39) |
T781S |
unknown |
Het |
| Sncaip |
C |
T |
18: 53,040,415 (GRCm39) |
Q870* |
probably null |
Het |
| Stab1 |
A |
T |
14: 30,882,754 (GRCm39) |
N416K |
possibly damaging |
Het |
| Tcea1 |
A |
G |
1: 4,937,706 (GRCm39) |
D26G |
probably damaging |
Het |
| Tcf20 |
A |
T |
15: 82,737,690 (GRCm39) |
S1254T |
probably benign |
Het |
| Tead4 |
T |
A |
6: 128,205,641 (GRCm39) |
I354F |
probably damaging |
Het |
| Tex36 |
G |
A |
7: 133,189,147 (GRCm39) |
R142* |
probably null |
Het |
| Trav6d-3 |
T |
A |
14: 52,962,799 (GRCm39) |
L12Q |
probably damaging |
Het |
| Trpc4 |
A |
G |
3: 54,102,317 (GRCm39) |
T72A |
possibly damaging |
Het |
| Trrap |
G |
A |
5: 144,733,945 (GRCm39) |
A933T |
probably benign |
Het |
| Tspoap1 |
T |
A |
11: 87,661,315 (GRCm39) |
I589N |
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,980,170 (GRCm39) |
V918E |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,384,205 (GRCm39) |
Y1091H |
probably damaging |
Het |
| Txn2 |
A |
G |
15: 77,811,886 (GRCm39) |
|
probably null |
Het |
| Ucn3 |
T |
G |
13: 3,991,365 (GRCm39) |
T96P |
probably benign |
Het |
| Usp36 |
T |
C |
11: 118,155,980 (GRCm39) |
E764G |
possibly damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,681,323 (GRCm39) |
H77L |
probably benign |
Het |
| Vmn2r57 |
T |
C |
7: 41,049,710 (GRCm39) |
T680A |
probably benign |
Het |
| Vwa3a |
T |
C |
7: 120,394,853 (GRCm39) |
I891T |
possibly damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,990,695 (GRCm39) |
S431P |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,687,039 (GRCm39) |
I803V |
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 |
|
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 |
|
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'- GTGCTAACAGGACAGGATGC -3'
(R):5'- GAGTGCTCAAAGCCAACTAAG -3'
Sequencing Primer
(F):5'- ACAGGATGCAGCTTTAATAGACTAG -3'
(R):5'- AGCAGCAGGATTGGCTCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation