Incidental Mutation 'IGL01331:Med12'
| ID |
74501 |
| 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 # |
IGL01331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
100317636-100341071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100324360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 649
(E649G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087948]
[ENSMUST00000087956]
[ENSMUST00000117203]
[ENSMUST00000117706]
|
| AlphaFold |
A2AGH6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087948
AA Change: E649G
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000085260
Gene: ENSMUSG00000079487
AA Change: E649G
| 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 |
possibly damaging
Transcript: ENSMUST00000087956
AA Change: E649G
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000085269
Gene: ENSMUSG00000079487
AA Change: E649G
| 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 |
possibly damaging
Transcript: ENSMUST00000117203
AA Change: E649G
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112729
Gene: ENSMUSG00000079487
AA Change: E649G
| 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 |
possibly damaging
Transcript: ENSMUST00000117706
AA Change: E649G
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112852
Gene: ENSMUSG00000079487
AA Change: E649G
| 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: 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Clca3a1 |
G |
A |
3: 144,453,273 (GRCm39) |
T517M |
probably damaging |
Het |
| Clec4g |
T |
C |
8: 3,767,190 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,233,454 (GRCm39) |
E545K |
possibly damaging |
Het |
| Cntn6 |
A |
T |
6: 104,751,484 (GRCm39) |
D380V |
probably damaging |
Het |
| Col9a2 |
C |
T |
4: 120,902,389 (GRCm39) |
P209S |
possibly damaging |
Het |
| Cyp2b9 |
T |
C |
7: 25,887,140 (GRCm39) |
V183A |
probably damaging |
Het |
| Dpt |
T |
C |
1: 164,624,379 (GRCm39) |
Y27H |
unknown |
Het |
| Dusp16 |
T |
C |
6: 134,695,067 (GRCm39) |
Q588R |
possibly damaging |
Het |
| Emg1 |
A |
G |
6: 124,682,033 (GRCm39) |
S164P |
probably benign |
Het |
| Foxk1 |
G |
A |
5: 142,439,344 (GRCm39) |
R428Q |
probably damaging |
Het |
| Frmd4a |
T |
A |
2: 4,607,036 (GRCm39) |
M667K |
probably benign |
Het |
| Gpr55 |
T |
A |
1: 85,868,915 (GRCm39) |
|
probably benign |
Het |
| Gtpbp8 |
A |
G |
16: 44,560,494 (GRCm39) |
I162T |
probably benign |
Het |
| Ighv1-59 |
C |
T |
12: 115,298,992 (GRCm39) |
V21I |
possibly damaging |
Het |
| Ipo11 |
T |
A |
13: 106,932,254 (GRCm39) |
Y938F |
possibly damaging |
Het |
| Map4 |
G |
T |
9: 109,863,869 (GRCm39) |
V365L |
probably benign |
Het |
| Mboat1 |
C |
A |
13: 30,403,684 (GRCm39) |
|
probably benign |
Het |
| Nfkbie |
T |
C |
17: 45,869,495 (GRCm39) |
V150A |
probably benign |
Het |
| Or51ai2 |
A |
G |
7: 103,586,782 (GRCm39) |
Y65C |
possibly damaging |
Het |
| Or8k22 |
A |
C |
2: 86,163,048 (GRCm39) |
Y217* |
probably null |
Het |
| Prdm1 |
T |
A |
10: 44,317,970 (GRCm39) |
K299N |
possibly damaging |
Het |
| Ribc1 |
T |
C |
X: 150,788,102 (GRCm39) |
T291A |
probably benign |
Het |
| Rps6kc1 |
G |
T |
1: 190,532,549 (GRCm39) |
N484K |
possibly damaging |
Het |
| Serpina3k |
C |
A |
12: 104,309,369 (GRCm39) |
A271D |
probably benign |
Het |
| Spata18 |
G |
T |
5: 73,827,024 (GRCm39) |
R321L |
probably damaging |
Het |
| Styxl2 |
C |
A |
1: 165,935,749 (GRCm39) |
V150L |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,976,027 (GRCm39) |
|
probably benign |
Het |
| Syt17 |
T |
A |
7: 118,007,389 (GRCm39) |
I302F |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,985,538 (GRCm39) |
|
probably null |
Het |
| Tmc2 |
A |
G |
2: 130,074,276 (GRCm39) |
Y323C |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,901,112 (GRCm39) |
D1452G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,620,022 (GRCm39) |
I7555T |
probably damaging |
Het |
| Ugt2b36 |
A |
T |
5: 87,238,801 (GRCm39) |
W131R |
probably damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,820,870 (GRCm39) |
C21* |
probably null |
Het |
| Zfp592 |
T |
A |
7: 80,691,296 (GRCm39) |
C1158* |
probably null |
Het |
|
| Other mutations in Med12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00668:Med12
|
APN |
X |
100,324,792 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01122:Med12
|
APN |
X |
100,325,149 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-10-07 |
Incidental Mutation