Incidental Mutation 'IGL02479:Med12'
ID295106
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med12
Ensembl Gene ENSMUSG00000079487
Gene Namemediator complex subunit 12
SynonymsTnrc11, Mopa, OPA-1, Trap230
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02479
Quality Score
Status
ChromosomeX
Chromosomal Location101274030-101297465 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 101296992 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065858] [ENSMUST00000087948] [ENSMUST00000087956] [ENSMUST00000117203] [ENSMUST00000117706] [ENSMUST00000118111] [ENSMUST00000130555] [ENSMUST00000151528]
Predicted Effect probably benign
Transcript: ENSMUST00000065858
SMART Domains Protein: ENSMUSP00000066304
Gene: ENSMUSG00000031302

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000087948
AA Change: Q2174L
SMART Domains Protein: ENSMUSP00000085260
Gene: ENSMUSG00000079487
AA Change: Q2174L

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000087956
AA Change: Q2153L
SMART Domains Protein: ENSMUSP00000085269
Gene: ENSMUSG00000079487
AA Change: Q2153L

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000117203
AA Change: Q2166L
SMART Domains Protein: ENSMUSP00000112729
Gene: ENSMUSG00000079487
AA Change: Q2166L

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000117706
AA Change: Q2141L
SMART Domains Protein: ENSMUSP00000112852
Gene: ENSMUSG00000079487
AA Change: Q2141L

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000118111
SMART Domains Protein: ENSMUSP00000113863
Gene: ENSMUSG00000031302

DomainStartEndE-ValueType
Pfam:COesterase 3 487 3.6e-161 PFAM
Pfam:Abhydrolase_3 66 232 2.4e-7 PFAM
transmembrane domain 571 593 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130555
SMART Domains Protein: ENSMUSP00000122213
Gene: ENSMUSG00000031302

DomainStartEndE-ValueType
Pfam:COesterase 16 510 4.6e-179 PFAM
Pfam:Abhydrolase_3 160 323 1.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137664
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148846
Predicted Effect probably benign
Transcript: ENSMUST00000151528
SMART Domains Protein: ENSMUSP00000123283
Gene: ENSMUSG00000031302

DomainStartEndE-ValueType
Pfam:COesterase 16 621 3.4e-207 PFAM
Pfam:Abhydrolase_3 200 363 1.2e-6 PFAM
transmembrane domain 705 727 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,501,398 Y528C probably damaging Het
Adam24 T A 8: 40,679,532 I13N probably benign Het
Arsj T C 3: 126,438,939 S445P possibly damaging Het
Btf3l4 G A 4: 108,826,176 T31I possibly damaging Het
Cask A T X: 13,557,058 D502E probably damaging Het
Cenpl T A 1: 161,083,067 S195T probably benign Het
Clhc1 T A 11: 29,578,107 I545N probably damaging Het
Clrn2 T C 5: 45,463,912 I216T probably benign Het
Csf2rb C T 15: 78,341,724 Q332* probably null Het
Cyp3a44 T C 5: 145,790,667 D284G probably benign Het
Dgka T C 10: 128,730,246 E345G probably benign Het
Dync1i2 G A 2: 71,235,979 V128I probably damaging Het
Eno3 T A 11: 70,660,888 probably benign Het
Epc2 T A 2: 49,532,135 I347K probably benign Het
F8 A T X: 75,288,240 N681K probably damaging Het
Fam207a T C 10: 77,514,327 S76G probably damaging Het
Fancm T A 12: 65,106,485 D1238E probably damaging Het
Fcna T A 2: 25,625,260 Q237L probably benign Het
Fpr2 A T 17: 17,892,812 R23S probably benign Het
Frmd3 A G 4: 74,187,515 D466G probably benign Het
Gen1 C A 12: 11,241,935 V618L probably benign Het
Gja4 T C 4: 127,312,424 E182G probably benign Het
Gsdmc T A 15: 63,777,975 I356F possibly damaging Het
Kctd19 T C 8: 105,384,768 D102G probably damaging Het
Lrit2 T C 14: 37,072,278 L433P probably damaging Het
Lrp2 G A 2: 69,464,801 probably benign Het
Luc7l3 G A 11: 94,296,909 probably benign Het
Map3k5 T A 10: 20,056,484 L458Q probably damaging Het
Mast4 A G 13: 102,742,037 S1038P probably damaging Het
Mtor T A 4: 148,470,584 L888M probably damaging Het
Nova1 A T 12: 46,816,918 I83N unknown Het
Obscn A G 11: 59,056,227 probably benign Het
Olfr1309 A C 2: 111,983,385 S230A probably benign Het
Olfr1320 T C X: 49,683,865 V121A probably benign Het
Olfr1426 T A 19: 12,087,905 M296L probably benign Het
Olfr420 C A 1: 174,158,954 Y60* probably null Het
Pde2a A G 7: 101,501,083 Y243C probably damaging Het
Pdzd8 T A 19: 59,299,783 K1062* probably null Het
Phc1 A T 6: 122,323,717 probably benign Het
Pik3c2g T A 6: 139,918,004 S764T probably benign Het
Pmp2 T G 3: 10,182,202 R89S probably benign Het
Prdm2 A G 4: 143,134,929 L597P probably damaging Het
Rfx6 T A 10: 51,678,328 D88E probably benign Het
Rgs9 T C 11: 109,225,652 S442G possibly damaging Het
Ror2 C T 13: 53,131,932 R82Q possibly damaging Het
Sez6 C A 11: 77,978,026 A986E possibly damaging Het
Slc5a5 T A 8: 70,888,911 M325L possibly damaging Het
Sppl2c G A 11: 104,186,937 V188I probably benign Het
Srrm3 G T 5: 135,835,249 C67F probably damaging Het
Stk31 A G 6: 49,421,688 E341G probably damaging Het
Svil A T 18: 5,099,476 M1267L probably damaging Het
Tas2r135 C T 6: 42,405,751 R75* probably null Het
Trav8d-1 T C 14: 52,778,800 S48P probably benign Het
Vrk1 A T 12: 106,051,002 Q95L probably benign Het
Wdr25 C A 12: 108,898,601 T224K probably benign Het
Wdr37 A T 13: 8,842,784 H224Q probably damaging Het
Zhx1 C T 15: 58,054,371 E160K probably damaging Het
Other mutations in Med12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00668:Med12 APN X 101281186 missense probably benign 0.02
IGL01122:Med12 APN X 101281543 splice site probably benign
IGL01331:Med12 APN X 101280754 missense possibly damaging 0.82
IGL01636:Med12 APN X 101275189 missense probably damaging 1.00
IGL02121:Med12 APN X 101288342 splice site probably benign
IGL02415:Med12 APN X 101281790 missense probably damaging 1.00
IGL02597:Med12 APN X 101284932 missense probably damaging 1.00
IGL02904:Med12 APN X 101294178 splice site probably null
IGL03002:Med12 APN X 101295855 missense probably benign 0.00
IGL03006:Med12 APN X 101278078 missense probably damaging 1.00
IGL03366:Med12 APN X 101278089 missense probably benign 0.37
R3831:Med12 UTSW X 101295892 missense possibly damaging 0.49
R3833:Med12 UTSW X 101295892 missense possibly damaging 0.49
Posted On2015-04-16