Incidental Mutation 'IGL03369:Med21'
| ID |
420229 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Med21
|
| Ensembl Gene |
ENSMUSG00000030291 |
| Gene Name |
mediator complex subunit 21 |
| Synonyms |
0610007L03Rik, Srb7, D6Ertd782e, Surb7 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03369
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
146544077-146552098 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 146544143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 12
(V12A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032429]
[ENSMUST00000111650]
[ENSMUST00000204040]
|
| AlphaFold |
Q9CQ39 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032429
AA Change: V12A
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000032429
Gene: ENSMUSG00000030291
AA Change: V12A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med21
|
1 |
127 |
1.1e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000075077
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111650
AA Change: V12A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000107277
Gene: ENSMUSG00000030291
AA Change: V12A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med21
|
1 |
90 |
8.7e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138476
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204040
AA Change: V12A
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000145512
Gene: ENSMUSG00000030291
AA Change: V12A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med21
|
1 |
127 |
1.1e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203416
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147027
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mediator complex subunit 21 family. The encoded protein interacts with the human RNA polymerase II holoenzyme and is involved in transcriptional regulation of RNA polymerase II transcribed genes. A pseudogene of this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Embryos homozygous for a targeted null mutation die at the blastocyst stage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
T |
C |
6: 124,333,380 (GRCm39) |
N72S |
possibly damaging |
Het |
| A2m |
G |
A |
6: 121,653,862 (GRCm39) |
|
probably null |
Het |
| Angptl3 |
A |
T |
4: 98,923,057 (GRCm39) |
|
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,301,746 (GRCm39) |
D1106G |
probably benign |
Het |
| Capn13 |
G |
A |
17: 73,648,149 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,832,191 (GRCm39) |
H1371R |
probably benign |
Het |
| Chrna1 |
A |
T |
2: 73,400,789 (GRCm39) |
F247Y |
probably benign |
Het |
| Col2a1 |
T |
C |
15: 97,879,923 (GRCm39) |
T813A |
unknown |
Het |
| Dab2 |
T |
C |
15: 6,464,790 (GRCm39) |
V414A |
possibly damaging |
Het |
| Dach2 |
T |
C |
X: 112,465,937 (GRCm39) |
|
probably benign |
Het |
| Fap |
A |
G |
2: 62,333,699 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,965,396 (GRCm39) |
V385D |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,088,008 (GRCm39) |
|
probably null |
Het |
| Gorasp2 |
G |
A |
2: 70,513,336 (GRCm39) |
G201D |
probably damaging |
Het |
| Gp2 |
T |
A |
7: 119,050,783 (GRCm39) |
Q316L |
probably damaging |
Het |
| Gpx8 |
T |
C |
13: 113,179,696 (GRCm39) |
I202V |
probably damaging |
Het |
| Gsta3 |
A |
G |
1: 21,335,173 (GRCm39) |
K218R |
probably benign |
Het |
| Lama3 |
C |
T |
18: 12,686,340 (GRCm39) |
T1195I |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,410,514 (GRCm39) |
R488G |
possibly damaging |
Het |
| Mapt |
A |
T |
11: 104,173,259 (GRCm39) |
Y18F |
probably damaging |
Het |
| Mgat4b |
A |
G |
11: 50,124,936 (GRCm39) |
E457G |
possibly damaging |
Het |
| Mybl1 |
T |
A |
1: 9,742,780 (GRCm39) |
K609N |
probably damaging |
Het |
| Ncaph2 |
T |
G |
15: 89,247,858 (GRCm39) |
V75G |
probably benign |
Het |
| Neb |
A |
G |
2: 52,068,049 (GRCm39) |
Y5795H |
probably benign |
Het |
| Nup153 |
A |
G |
13: 46,854,459 (GRCm39) |
|
probably null |
Het |
| Or6c215 |
T |
C |
10: 129,638,340 (GRCm39) |
D18G |
probably damaging |
Het |
| Or6y1 |
T |
A |
1: 174,276,435 (GRCm39) |
I82N |
probably damaging |
Het |
| Plekhf2 |
G |
T |
4: 10,990,703 (GRCm39) |
T213K |
probably benign |
Het |
| Plekho2 |
C |
A |
9: 65,466,776 (GRCm39) |
G105W |
probably damaging |
Het |
| Polr3b |
G |
A |
10: 84,512,816 (GRCm39) |
G566D |
probably damaging |
Het |
| Rasgrf1 |
T |
C |
9: 89,892,504 (GRCm39) |
I1068T |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,312,294 (GRCm39) |
E907V |
probably benign |
Het |
| Runx1t1 |
C |
T |
4: 13,881,107 (GRCm39) |
S469F |
probably damaging |
Het |
| Spata31e4 |
G |
T |
13: 50,857,200 (GRCm39) |
C946F |
possibly damaging |
Het |
| Top1 |
A |
T |
2: 160,535,647 (GRCm39) |
D182V |
unknown |
Het |
| Uckl1 |
T |
C |
2: 181,211,982 (GRCm39) |
T375A |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,727,370 (GRCm39) |
|
probably benign |
Het |
| Vmn2r61 |
T |
A |
7: 41,909,517 (GRCm39) |
I14N |
probably benign |
Het |
| Wbp4 |
A |
T |
14: 79,707,558 (GRCm39) |
N184K |
probably damaging |
Het |
|
| Other mutations in Med21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02647:Med21
|
APN |
6 |
146,550,731 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0049:Med21
|
UTSW |
6 |
146,551,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0049:Med21
|
UTSW |
6 |
146,551,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0967:Med21
|
UTSW |
6 |
146,551,697 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2106:Med21
|
UTSW |
6 |
146,550,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4403:Med21
|
UTSW |
6 |
146,550,680 (GRCm39) |
nonsense |
probably null |
|
|
R4675:Med21
|
UTSW |
6 |
146,551,691 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4747:Med21
|
UTSW |
6 |
146,550,700 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4749:Med21
|
UTSW |
6 |
146,551,599 (GRCm39) |
splice site |
probably null |
|
|
R4855:Med21
|
UTSW |
6 |
146,549,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Med21
|
UTSW |
6 |
146,548,781 (GRCm39) |
intron |
probably benign |
|
|
R5344:Med21
|
UTSW |
6 |
146,550,683 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7338:Med21
|
UTSW |
6 |
146,544,082 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation