Incidental Mutation 'IGL00668:Med12'
| ID |
13608 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Med12
|
| Ensembl Gene |
ENSMUSG00000079487 |
| Gene Name |
mediator complex subunit 12 |
| Synonyms |
Tnrc11, Mopa, OPA-1, Trap230 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00668
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
100317636-100341071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100324792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 666
(S666P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087948]
[ENSMUST00000087956]
[ENSMUST00000117203]
[ENSMUST00000117706]
|
| AlphaFold |
A2AGH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087948
AA Change: S666P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000085260
Gene: ENSMUSG00000079487
AA Change: S666P
| Domain | Start | End | E-Value | Type |
|---|
|
Med12
|
101 |
161 |
2.98e-24 |
SMART |
|
low complexity region
|
273 |
282 |
N/A |
INTRINSIC |
|
Pfam:Med12-LCEWAV
|
287 |
758 |
1.5e-184 |
PFAM |
|
low complexity region
|
1220 |
1231 |
N/A |
INTRINSIC |
|
low complexity region
|
1245 |
1267 |
N/A |
INTRINSIC |
|
low complexity region
|
1394 |
1412 |
N/A |
INTRINSIC |
|
low complexity region
|
1469 |
1480 |
N/A |
INTRINSIC |
|
low complexity region
|
1732 |
1774 |
N/A |
INTRINSIC |
|
low complexity region
|
1780 |
1794 |
N/A |
INTRINSIC |
|
Pfam:Med12-PQL
|
1821 |
2024 |
1.2e-79 |
PFAM |
|
SCOP:d1bg1a1
|
2056 |
2129 |
3e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087956
AA Change: S666P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000085269
Gene: ENSMUSG00000079487
AA Change: S666P
| Domain | Start | End | E-Value | Type |
|---|
|
Med12
|
101 |
161 |
2.98e-24 |
SMART |
|
low complexity region
|
273 |
282 |
N/A |
INTRINSIC |
|
Pfam:Med12-LCEWAV
|
286 |
758 |
1.8e-213 |
PFAM |
|
low complexity region
|
1220 |
1231 |
N/A |
INTRINSIC |
|
low complexity region
|
1245 |
1267 |
N/A |
INTRINSIC |
|
low complexity region
|
1394 |
1412 |
N/A |
INTRINSIC |
|
low complexity region
|
1469 |
1480 |
N/A |
INTRINSIC |
|
low complexity region
|
1732 |
1774 |
N/A |
INTRINSIC |
|
low complexity region
|
1780 |
1794 |
N/A |
INTRINSIC |
|
Pfam:Med12-PQL
|
1819 |
1970 |
1.5e-57 |
PFAM |
|
Pfam:Med12-PQL
|
1968 |
2004 |
5.7e-18 |
PFAM |
|
SCOP:d1bg1a1
|
2035 |
2108 |
4e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117203
AA Change: S666P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112729
Gene: ENSMUSG00000079487
AA Change: S666P
| Domain | Start | End | E-Value | Type |
|---|
|
Med12
|
101 |
161 |
2.98e-24 |
SMART |
|
low complexity region
|
273 |
282 |
N/A |
INTRINSIC |
|
Pfam:Med12-LCEWAV
|
286 |
758 |
3.8e-214 |
PFAM |
|
low complexity region
|
1220 |
1231 |
N/A |
INTRINSIC |
|
low complexity region
|
1245 |
1267 |
N/A |
INTRINSIC |
|
low complexity region
|
1394 |
1412 |
N/A |
INTRINSIC |
|
low complexity region
|
1469 |
1480 |
N/A |
INTRINSIC |
|
low complexity region
|
1732 |
1774 |
N/A |
INTRINSIC |
|
low complexity region
|
1780 |
1794 |
N/A |
INTRINSIC |
|
Pfam:Med12-PQL
|
1819 |
2025 |
1.5e-100 |
PFAM |
|
SCOP:d1lsha3
|
2048 |
2107 |
4e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117706
AA Change: S666P
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112852
Gene: ENSMUSG00000079487
AA Change: S666P
| Domain | Start | End | E-Value | Type |
|---|
|
Med12
|
101 |
161 |
2.98e-24 |
SMART |
|
low complexity region
|
273 |
282 |
N/A |
INTRINSIC |
|
Pfam:Med12-LCEWAV
|
286 |
758 |
3.7e-214 |
PFAM |
|
low complexity region
|
1220 |
1231 |
N/A |
INTRINSIC |
|
low complexity region
|
1245 |
1267 |
N/A |
INTRINSIC |
|
low complexity region
|
1394 |
1412 |
N/A |
INTRINSIC |
|
low complexity region
|
1469 |
1480 |
N/A |
INTRINSIC |
|
low complexity region
|
1732 |
1774 |
N/A |
INTRINSIC |
|
low complexity region
|
1780 |
1794 |
N/A |
INTRINSIC |
|
Pfam:Med12-PQL
|
1819 |
1966 |
7.5e-63 |
PFAM |
|
Pfam:Med12-PQL
|
1964 |
2000 |
1.1e-18 |
PFAM |
|
SCOP:d1lsha3
|
2023 |
2082 |
4e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156131
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]
PHENOTYPE: Male chimeras hemizygous for a null allele arrest at E7.5 and lack anterior visceral endoderm. Male chimeras hemizygous for a hypomorphic allele die at E10.5 showing failure of neural crest cell migration and severe defects in neural tube closure, axis elongation, somitogenesis and heart formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Csmd3 |
A |
T |
15: 47,777,341 (GRCm39) |
D1188E |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,072,620 (GRCm39) |
L2726P |
possibly damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,221,048 (GRCm39) |
H21R |
probably benign |
Het |
| Il23r |
T |
C |
6: 67,400,612 (GRCm39) |
T573A |
probably damaging |
Het |
| Lima1 |
A |
T |
15: 99,700,038 (GRCm39) |
V147E |
possibly damaging |
Het |
| Mpo |
A |
G |
11: 87,688,160 (GRCm39) |
N273S |
probably benign |
Het |
| Phf20l1 |
T |
A |
15: 66,504,698 (GRCm39) |
Y780N |
probably damaging |
Het |
| Pigk |
A |
G |
3: 152,448,173 (GRCm39) |
T179A |
possibly damaging |
Het |
| Sec23b |
A |
G |
2: 144,401,138 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,985 (GRCm39) |
E894G |
probably damaging |
Het |
| Slc38a11 |
T |
A |
2: 65,184,126 (GRCm39) |
D175V |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,883,968 (GRCm39) |
|
probably null |
Het |
| Tsbp1 |
A |
G |
17: 34,639,394 (GRCm39) |
|
probably benign |
Het |
| Wmp |
T |
A |
X: 106,990,802 (GRCm39) |
Y37F |
possibly damaging |
Het |
|
| Other mutations in Med12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01122:Med12
|
APN |
X |
100,325,149 (GRCm39) |
splice site |
probably benign |
|
|
IGL01331:Med12
|
APN |
X |
100,324,360 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01636:Med12
|
APN |
X |
100,318,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02121:Med12
|
APN |
X |
100,331,948 (GRCm39) |
splice site |
probably benign |
|
|
IGL02415:Med12
|
APN |
X |
100,325,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02479:Med12
|
APN |
X |
100,340,598 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02597:Med12
|
APN |
X |
100,328,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02904:Med12
|
APN |
X |
100,337,784 (GRCm39) |
splice site |
probably null |
|
|
IGL03002:Med12
|
APN |
X |
100,339,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03006:Med12
|
APN |
X |
100,321,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03366:Med12
|
APN |
X |
100,321,695 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3831:Med12
|
UTSW |
X |
100,339,498 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3833:Med12
|
UTSW |
X |
100,339,498 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Z1176:Med12
|
UTSW |
X |
100,337,179 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Med12
|
UTSW |
X |
100,324,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation