Incidental Mutation 'IGL01122:Med12'
| ID |
53343 |
| 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 # |
IGL01122
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
100317636-100341071 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 100325149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000085260
Gene: ENSMUSG00000079487
| 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
|
| SMART Domains |
Protein: ENSMUSP00000085269
Gene: ENSMUSG00000079487
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112729
Gene: ENSMUSG00000079487
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112852
Gene: ENSMUSG00000079487
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap6 |
A |
T |
X: 168,029,666 (GRCm39) |
K142N |
possibly damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,251,555 (GRCm39) |
L540Q |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,341,422 (GRCm39) |
|
probably null |
Het |
| Cops6 |
A |
G |
5: 138,160,635 (GRCm39) |
K129E |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,018,522 (GRCm39) |
*1289Q |
probably null |
Het |
| Cyp11a1 |
T |
C |
9: 57,923,589 (GRCm39) |
I98T |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,060,621 (GRCm39) |
|
probably null |
Het |
| Dapl1 |
A |
T |
2: 59,324,839 (GRCm39) |
K30I |
probably damaging |
Het |
| Dlg2 |
A |
G |
7: 92,091,816 (GRCm39) |
M894V |
possibly damaging |
Het |
| Eme2 |
C |
T |
17: 25,112,320 (GRCm39) |
A202T |
possibly damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,215,739 (GRCm39) |
S170T |
probably damaging |
Het |
| Havcr2 |
A |
G |
11: 46,347,254 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ivd |
T |
A |
2: 118,707,361 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,778,900 (GRCm39) |
D471G |
possibly damaging |
Het |
| Megf6 |
C |
T |
4: 154,338,264 (GRCm39) |
R445W |
probably damaging |
Het |
| Mptx1 |
A |
G |
1: 174,159,964 (GRCm39) |
Y90C |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,574,000 (GRCm39) |
V1083I |
possibly damaging |
Het |
| Nepn |
T |
A |
10: 52,267,911 (GRCm39) |
I59N |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,767 (GRCm39) |
I101T |
possibly damaging |
Het |
| Pbdc1 |
T |
C |
X: 104,126,297 (GRCm39) |
|
probably benign |
Het |
| Phlpp1 |
G |
T |
1: 106,101,166 (GRCm39) |
R478L |
possibly damaging |
Het |
| Ppp2r3c |
C |
T |
12: 55,344,587 (GRCm39) |
G127D |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,088,844 (GRCm39) |
L493P |
probably benign |
Het |
| Pramel24 |
A |
G |
4: 143,454,971 (GRCm39) |
D423G |
probably benign |
Het |
| Psap |
T |
C |
10: 60,135,253 (GRCm39) |
V303A |
probably benign |
Het |
| Rdh13 |
T |
C |
7: 4,445,694 (GRCm39) |
K60R |
probably benign |
Het |
| Scaf4 |
A |
G |
16: 90,045,518 (GRCm39) |
S528P |
unknown |
Het |
| Sfmbt1 |
A |
G |
14: 30,532,268 (GRCm39) |
I543V |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,386,679 (GRCm39) |
L1271P |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,528,960 (GRCm39) |
T1739K |
possibly damaging |
Het |
| Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
| Tmprss11b |
G |
T |
5: 86,811,376 (GRCm39) |
T186K |
probably benign |
Het |
| U2surp |
G |
T |
9: 95,372,287 (GRCm39) |
Q291K |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 120,997,358 (GRCm39) |
I738T |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,601,346 (GRCm39) |
S142T |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,821,988 (GRCm39) |
I222N |
probably benign |
Het |
| Zmym4 |
T |
C |
4: 126,758,045 (GRCm39) |
N1503S |
probably damaging |
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 |
|
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 |
2013-06-21 |
Incidental Mutation