Incidental Mutation 'IGL03002:Med12'
ID |
407392 |
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 # |
IGL03002
|
Quality Score |
|
Status
|
|
Chromosome |
X |
Chromosomal Location |
100317636-100341071 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100339461 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 2004
(T2004A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085269
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065858]
[ENSMUST00000087948]
[ENSMUST00000087956]
[ENSMUST00000117203]
[ENSMUST00000117706]
[ENSMUST00000151528]
[ENSMUST00000130555]
[ENSMUST00000118111]
|
AlphaFold |
A2AGH6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065858
|
SMART Domains |
Protein: ENSMUSP00000066304 Gene: ENSMUSG00000031302
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
16 |
601 |
2.3e-194 |
PFAM |
Pfam:Abhydrolase_3
|
180 |
342 |
1.7e-7 |
PFAM |
transmembrane domain
|
685 |
707 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000087948
AA Change: T2025A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000085260 Gene: ENSMUSG00000079487 AA Change: T2025A
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: T2004A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000085269 Gene: ENSMUSG00000079487 AA Change: T2004A
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 |
noncoding transcript
Transcript: ENSMUST00000113671
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117203
AA Change: T2025A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112729 Gene: ENSMUSG00000079487 AA Change: T2025A
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: T2000A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112852 Gene: ENSMUSG00000079487 AA Change: T2000A
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: ENSMUST00000148846
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137664
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147443
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132269
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151528
|
SMART Domains |
Protein: ENSMUSP00000123283 Gene: ENSMUSG00000031302
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
16 |
621 |
3.4e-207 |
PFAM |
Pfam:Abhydrolase_3
|
200 |
363 |
1.2e-6 |
PFAM |
transmembrane domain
|
705 |
727 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130555
|
SMART Domains |
Protein: ENSMUSP00000122213 Gene: ENSMUSG00000031302
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
16 |
510 |
4.6e-179 |
PFAM |
Pfam:Abhydrolase_3
|
160 |
323 |
1.5e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118111
|
SMART Domains |
Protein: ENSMUSP00000113863 Gene: ENSMUSG00000031302
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
3 |
487 |
3.6e-161 |
PFAM |
Pfam:Abhydrolase_3
|
66 |
232 |
2.4e-7 |
PFAM |
transmembrane domain
|
571 |
593 |
N/A |
INTRINSIC |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadl |
T |
C |
1: 66,876,128 (GRCm39) |
I398V |
probably benign |
Het |
Adcy4 |
A |
T |
14: 56,011,013 (GRCm39) |
C635S |
probably benign |
Het |
Aoc1l3 |
A |
G |
6: 48,964,052 (GRCm39) |
H20R |
probably benign |
Het |
Asic4 |
C |
A |
1: 75,427,967 (GRCm39) |
D164E |
possibly damaging |
Het |
C8g |
T |
A |
2: 25,388,823 (GRCm39) |
*203L |
probably null |
Het |
Cad |
T |
C |
5: 31,212,330 (GRCm39) |
V11A |
probably benign |
Het |
Cckar |
T |
C |
5: 53,860,247 (GRCm39) |
N194S |
probably damaging |
Het |
Cdc123 |
T |
C |
2: 5,803,166 (GRCm39) |
|
probably benign |
Het |
Chrm5 |
T |
C |
2: 112,310,706 (GRCm39) |
T137A |
probably damaging |
Het |
Cyp1a1 |
A |
G |
9: 57,609,724 (GRCm39) |
|
probably benign |
Het |
Dapk3 |
G |
T |
10: 81,026,437 (GRCm39) |
E187* |
probably null |
Het |
Dmtf1 |
T |
C |
5: 9,190,474 (GRCm39) |
E80G |
probably damaging |
Het |
Dusp19 |
T |
A |
2: 80,461,279 (GRCm39) |
N189K |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,104,520 (GRCm39) |
V164A |
possibly damaging |
Het |
Hk1 |
A |
T |
10: 62,107,578 (GRCm39) |
V799E |
probably damaging |
Het |
Iars2 |
C |
T |
1: 185,055,013 (GRCm39) |
|
probably null |
Het |
Jcad |
T |
A |
18: 4,675,153 (GRCm39) |
Y972N |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,425,505 (GRCm39) |
D708E |
probably damaging |
Het |
Mbtd1 |
T |
A |
11: 93,815,316 (GRCm39) |
H301Q |
probably benign |
Het |
Mib1 |
T |
C |
18: 10,798,356 (GRCm39) |
I739T |
possibly damaging |
Het |
Mthfsd |
C |
T |
8: 121,835,018 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
T |
G |
2: 90,954,234 (GRCm39) |
F369C |
probably damaging |
Het |
Nfatc2 |
C |
T |
2: 168,376,904 (GRCm39) |
V329M |
probably damaging |
Het |
Ngef |
A |
T |
1: 87,437,114 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
T |
C |
11: 71,059,685 (GRCm39) |
E759G |
probably benign |
Het |
Or10aa3 |
C |
A |
1: 173,878,191 (GRCm39) |
T84N |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,729,016 (GRCm39) |
E790G |
probably benign |
Het |
Psmd12 |
A |
G |
11: 107,376,607 (GRCm39) |
D81G |
probably benign |
Het |
Rnf144b |
A |
G |
13: 47,396,359 (GRCm39) |
H232R |
probably damaging |
Het |
Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
Slc16a4 |
A |
T |
3: 107,208,102 (GRCm39) |
N204I |
probably benign |
Het |
Socs1 |
T |
C |
16: 10,602,404 (GRCm39) |
N111S |
probably damaging |
Het |
Srpra |
A |
G |
9: 35,126,017 (GRCm39) |
N432D |
probably damaging |
Het |
Srrm2 |
A |
G |
17: 24,034,708 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
A |
G |
6: 72,593,055 (GRCm39) |
S142P |
possibly damaging |
Het |
Trbv13-1 |
A |
G |
6: 41,093,169 (GRCm39) |
N34S |
probably benign |
Het |
Vmn2r26 |
T |
C |
6: 124,016,754 (GRCm39) |
V406A |
possibly damaging |
Het |
Vsig1 |
G |
T |
X: 139,827,088 (GRCm39) |
G79V |
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 |
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 |
|
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 |
2016-08-02 |