Incidental Mutation 'RF003:Med23'
| ID |
602640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med23
|
| Ensembl Gene |
ENSMUSG00000019984 |
| Gene Name |
mediator complex subunit 23 |
| Synonyms |
ESTM7, 3000002A17Rik, X83317, Sur2, Crsp3, sno |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF003 (G1)
|
| Quality Score |
224.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24779683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 920
(H920R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020159
AA Change: H914R
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: H914R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092646
AA Change: H920R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: H920R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176285
AA Change: H554R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: H554R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
AACC |
A |
7: 40,642,479 (GRCm39) |
|
probably benign |
Het |
| A630073D07Rik |
A |
C |
6: 132,604,406 (GRCm39) |
L13R |
unknown |
Het |
| Alg9 |
GGC |
GGCCGC |
9: 50,686,727 (GRCm39) |
|
probably benign |
Het |
| Arb2a |
A |
T |
13: 77,982,794 (GRCm39) |
I135L |
possibly damaging |
Het |
| Arc |
G |
C |
15: 74,543,980 (GRCm39) |
T81S |
probably benign |
Het |
| Atad5 |
A |
T |
11: 80,002,386 (GRCm39) |
K1059N |
probably damaging |
Het |
| Bdp1 |
C |
A |
13: 100,196,957 (GRCm39) |
V1143F |
probably benign |
Het |
| Bdp1 |
C |
A |
13: 100,196,958 (GRCm39) |
Q1142H |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,965,574 (GRCm39) |
S583G |
probably benign |
Het |
| Cd109 |
TTAT |
TTATTTATTTATATAT |
9: 78,619,813 (GRCm39) |
|
probably benign |
Het |
| Cep192 |
A |
T |
18: 67,971,027 (GRCm39) |
R1009S |
probably benign |
Het |
| Clvs2 |
T |
A |
10: 33,498,921 (GRCm39) |
H3L |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,593,440 (GRCm39) |
M14V |
probably benign |
Het |
| Colec10 |
A |
G |
15: 54,325,787 (GRCm39) |
R206G |
possibly damaging |
Het |
| Dennd6a |
T |
C |
14: 26,350,689 (GRCm39) |
I598T |
probably damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,655,498 (GRCm39) |
S366P |
probably damaging |
Het |
| Dnmt1 |
AGTTCCTACCTCGTT |
AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT |
9: 20,821,427 (GRCm39) |
|
probably null |
Het |
| Efhb |
T |
C |
17: 53,707,919 (GRCm39) |
D748G |
probably damaging |
Het |
| Etl4 |
C |
T |
2: 20,524,729 (GRCm39) |
Q21* |
probably null |
Het |
| Flywch1 |
CCACTCCTGGTGT |
CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT |
17: 23,981,140 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
ACCTCC |
ACCTCCCCCTCC |
2: 113,356,131 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,821,865 (GRCm39) |
M5866K |
probably benign |
Het |
| Gab3 |
CTT |
CTTATT |
X: 74,043,612 (GRCm39) |
|
probably null |
Het |
| Garin5a |
C |
CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA |
7: 44,149,951 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
A |
4: 124,937,518 (GRCm39) |
|
probably null |
Het |
| Grip2 |
C |
T |
6: 91,760,574 (GRCm39) |
R341Q |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,500,312 (GRCm39) |
H3960L |
probably damaging |
Het |
| Igkv6-25 |
T |
A |
6: 70,192,762 (GRCm39) |
Y56* |
probably null |
Het |
| Il12a |
A |
T |
3: 68,602,562 (GRCm39) |
T102S |
probably benign |
Het |
| Il1a |
T |
A |
2: 129,144,852 (GRCm39) |
I189F |
possibly damaging |
Het |
| Inpp4b |
T |
A |
8: 82,696,150 (GRCm39) |
Y361* |
probably null |
Het |
| Iqcf4 |
CTTTTCCTTTTCCTTTT |
CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT |
9: 106,447,806 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
AGCACATTG |
AGCACATTGTGCACATTG |
6: 145,119,509 (GRCm39) |
|
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Las1l |
AGTGG |
AGTGGTGG |
X: 94,984,422 (GRCm39) |
|
probably benign |
Het |
| Lrrc8d |
T |
C |
5: 105,960,507 (GRCm39) |
Y306H |
probably damaging |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,426 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CTCCAGCTCCAGCTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,777 (GRCm39) |
|
probably benign |
Het |
| Map1b |
G |
T |
13: 99,567,258 (GRCm39) |
A1821E |
unknown |
Het |
| Maz |
A |
G |
7: 126,624,669 (GRCm39) |
C284R |
probably damaging |
Het |
| Megf10 |
CCAGCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAGCAG |
18: 57,427,099 (GRCm39) |
|
probably benign |
Het |
| Mmp14 |
C |
T |
14: 54,676,471 (GRCm39) |
R339* |
probably null |
Het |
| Mroh9 |
T |
G |
1: 162,885,630 (GRCm39) |
K334T |
probably damaging |
Het |
| Nab1 |
A |
T |
1: 52,518,441 (GRCm39) |
C320S |
probably damaging |
Het |
| Noto |
T |
C |
6: 85,401,192 (GRCm39) |
S74P |
probably benign |
Het |
| Nudt4 |
T |
C |
10: 95,385,236 (GRCm39) |
N152D |
possibly damaging |
Het |
| Nup155 |
T |
TTTTG |
15: 8,148,660 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
AGCTGAGA |
AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA |
2: 119,458,084 (GRCm39) |
|
probably benign |
Het |
| Or10al2 |
A |
C |
17: 37,983,749 (GRCm39) |
K278N |
probably damaging |
Het |
| Or2d4 |
T |
A |
7: 106,543,855 (GRCm39) |
M118L |
probably damaging |
Het |
| Or2t48 |
CA |
C |
11: 58,419,983 (GRCm39) |
|
probably null |
Het |
| Or51f1e |
GTTAT |
GTTATTAT |
7: 102,747,512 (GRCm39) |
|
|
Het |
| Or51f1e |
TTA |
TTAGTA |
7: 102,747,513 (GRCm39) |
|
probably null |
Het |
| Or7g16 |
T |
C |
9: 18,726,778 (GRCm39) |
T271A |
probably benign |
Het |
| Or9a7 |
T |
C |
6: 40,521,296 (GRCm39) |
I206V |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,630,306 (GRCm39) |
Y1531C |
probably damaging |
Het |
| Pnma8b |
TGA |
TGAAGA |
7: 16,679,941 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,414,917 (GRCm39) |
V2065A |
probably damaging |
Het |
| Sbp |
AAGATGCTGACAACA |
AAGATGCTGACAACAGAGATGCTGACAACA |
17: 24,164,343 (GRCm39) |
|
probably benign |
Het |
| Sepsecs |
G |
A |
5: 52,804,533 (GRCm39) |
T379M |
probably benign |
Het |
| Sfswap |
GGCC |
GGCCCACTCTGCC |
5: 129,646,828 (GRCm39) |
|
probably benign |
Het |
| Six3 |
GCG |
GCGTCG |
17: 85,928,798 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
C |
T |
17: 48,099,003 (GRCm39) |
T259I |
possibly damaging |
Het |
| Tgoln1 |
A |
AAACTCAG |
6: 72,593,335 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
G |
A |
11: 115,686,958 (GRCm39) |
V1108M |
probably damaging |
Het |
| Usp35 |
T |
C |
7: 96,971,303 (GRCm39) |
K297E |
possibly damaging |
Het |
| Vcpkmt |
T |
A |
12: 69,629,598 (GRCm39) |
T55S |
possibly damaging |
Het |
| Zfp384 |
GCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAG |
6: 125,013,446 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,013,434 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
GGCCC |
GGCCCTGGCCCAAGCCC |
6: 125,013,439 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,227,688 (GRCm39) |
S1974T |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,617,704 (GRCm39) |
S254P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTTGGGGTAGACTAGACATC -3'
(R):5'- CATGCCGACTTGAAGTACAGTTAC -3'
Sequencing Primer
(F):5'- TTTGGGGTAGACTAGACATCTAAGG -3'
(R):5'- CTTATTCATTAGCATAGCCTACAGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation