Incidental Mutation 'V7580:Med20'
| ID |
69440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med20
|
| Ensembl Gene |
ENSMUSG00000092558 |
| Gene Name |
mediator complex subunit 20 |
| Synonyms |
1110011O05Rik, Trfp, 2410115I17Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
V7580 ()
of strain
stinger
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
47922510-47935176 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 47929757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 65
(V65M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024778]
[ENSMUST00000132397]
|
| AlphaFold |
Q9R0X0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024778
AA Change: V65M
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000024778
Gene: ENSMUSG00000092558
AA Change: V65M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med20
|
1 |
198 |
6.7e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130830
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132397
AA Change: V65M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117658
Gene: ENSMUSG00000023984
AA Change: V65M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med20
|
1 |
149 |
1.6e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149893
|
| Meta Mutation Damage Score |
0.4615 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. A mutation in this gene has been associated with a novel infantile-onset neurodegenerative movement disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,849,914 (GRCm39) |
M950L |
probably benign |
Het |
| Atp6v1h |
A |
G |
1: 5,194,666 (GRCm39) |
T282A |
possibly damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,639,944 (GRCm39) |
H333Y |
probably benign |
Het |
| Cd36 |
ACTGTCTGT |
ACTGT |
5: 18,025,526 (GRCm39) |
|
probably null |
Het |
| Cfi |
T |
A |
3: 129,648,641 (GRCm39) |
I175K |
possibly damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,042,931 (GRCm39) |
T870A |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,495,050 (GRCm39) |
N1369K |
possibly damaging |
Het |
| Dnajc22 |
T |
A |
15: 98,999,363 (GRCm39) |
Y183N |
probably damaging |
Het |
| Erv3 |
T |
C |
2: 131,697,846 (GRCm39) |
H171R |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,665,865 (GRCm39) |
T249A |
probably benign |
Het |
| Gm10770 |
T |
A |
2: 150,021,404 (GRCm39) |
K38* |
probably null |
Het |
| Gm4787 |
G |
A |
12: 81,424,341 (GRCm39) |
Q606* |
probably null |
Het |
| Izumo4 |
A |
T |
10: 80,539,725 (GRCm39) |
T155S |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,780,315 (GRCm39) |
I396V |
probably benign |
Het |
| Klc1 |
A |
T |
12: 111,741,006 (GRCm39) |
I161F |
probably benign |
Het |
| Lpar5 |
C |
A |
6: 125,058,690 (GRCm39) |
A137E |
possibly damaging |
Het |
| Lrp4 |
C |
T |
2: 91,318,863 (GRCm39) |
S900L |
possibly damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,346,338 (GRCm39) |
N3176T |
possibly damaging |
Het |
| Mylk |
G |
T |
16: 34,815,574 (GRCm39) |
|
probably null |
Het |
| Numbl |
T |
C |
7: 26,979,027 (GRCm39) |
S379P |
probably benign |
Het |
| Or10j7 |
G |
T |
1: 173,011,531 (GRCm39) |
L157I |
probably benign |
Het |
| Or5an6 |
G |
A |
19: 12,371,914 (GRCm39) |
V96I |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,235,664 (GRCm39) |
L432Q |
probably damaging |
Het |
| Papln |
C |
T |
12: 83,825,608 (GRCm39) |
R608C |
possibly damaging |
Het |
| Pelp1 |
T |
A |
11: 70,288,976 (GRCm39) |
T257S |
probably damaging |
Het |
| Pigx |
T |
C |
16: 31,906,240 (GRCm39) |
D129G |
probably damaging |
Het |
| Pik3cd |
A |
C |
4: 149,741,776 (GRCm39) |
L390R |
probably damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,303,825 (GRCm39) |
T112A |
probably benign |
Het |
| Ppwd1 |
A |
G |
13: 104,356,745 (GRCm39) |
Y257H |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,590,369 (GRCm39) |
D705G |
possibly damaging |
Het |
| Ror1 |
A |
G |
4: 100,298,130 (GRCm39) |
Q501R |
probably damaging |
Het |
| Slc30a4 |
T |
A |
2: 122,531,458 (GRCm39) |
M136L |
probably benign |
Het |
| Spaca1 |
T |
C |
4: 34,039,311 (GRCm39) |
E192G |
probably damaging |
Het |
| Spata31 |
C |
A |
13: 65,069,462 (GRCm39) |
P537T |
probably benign |
Het |
| Sptbn2 |
C |
T |
19: 4,800,660 (GRCm39) |
R2292C |
probably damaging |
Het |
| Tnrc6c |
G |
A |
11: 117,614,152 (GRCm39) |
R770H |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,973 (GRCm39) |
K150E |
probably damaging |
Het |
| Tspyl3 |
A |
G |
2: 153,066,980 (GRCm39) |
V86A |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,806,783 (GRCm39) |
C2087Y |
possibly damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,654,314 (GRCm39) |
R724* |
probably null |
Het |
|
| Other mutations in Med20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01648:Med20
|
APN |
17 |
47,933,925 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0847:Med20
|
UTSW |
17 |
47,922,618 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0881:Med20
|
UTSW |
17 |
47,922,605 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4460:Med20
|
UTSW |
17 |
47,929,842 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4461:Med20
|
UTSW |
17 |
47,929,842 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5212:Med20
|
UTSW |
17 |
47,929,775 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5605:Med20
|
UTSW |
17 |
47,934,069 (GRCm39) |
intron |
probably benign |
|
|
R8166:Med20
|
UTSW |
17 |
47,924,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
V7582:Med20
|
UTSW |
17 |
47,929,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACCCAAGAATTTTCTGGTGCTCG -3'
(R):5'- AGCCCACAGCATATCCTGCTTGTC -3'
Sequencing Primer
(F):5'- GCTGGCTTTTCCAATTACCCG -3'
(R):5'- GGTCTTACCTCCACAGAGATG -3'
|
| Posted On |
2013-09-04 |
Incidental Mutation