Incidental Mutation 'IGL03002:Med12'
ID407392
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 #IGL03002
Quality Score
Status
ChromosomeX
Chromosomal Location101274030-101297465 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101295855 bp
ZygosityHeterozygous
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] [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 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

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 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

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 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

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 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

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl T C 1: 66,836,969 I398V probably benign Het
Adcy4 A T 14: 55,773,556 C635S probably benign Het
Asic4 C A 1: 75,451,323 D164E possibly damaging Het
C8g T A 2: 25,498,811 *203L probably null Het
Cad T C 5: 31,054,986 V11A probably benign Het
Cckar T C 5: 53,702,905 N194S probably damaging Het
Cdc123 T C 2: 5,798,355 probably benign Het
Chrm5 T C 2: 112,480,361 T137A probably damaging Het
Cyp1a1 A G 9: 57,702,441 probably benign Het
Dapk3 G T 10: 81,190,603 E187* probably null Het
Dmtf1 T C 5: 9,140,474 E80G probably damaging Het
Dusp19 T A 2: 80,630,935 N189K probably damaging Het
Gfral A G 9: 76,197,238 V164A possibly damaging Het
Hk1 A T 10: 62,271,799 V799E probably damaging Het
Iars2 C T 1: 185,322,816 probably null Het
Jcad T A 18: 4,675,153 Y972N probably benign Het
Lrp1 A T 10: 127,589,636 D708E probably damaging Het
Mbtd1 T A 11: 93,924,490 H301Q probably benign Het
Mib1 T C 18: 10,798,356 I739T possibly damaging Het
Mthfsd C T 8: 121,108,279 probably benign Het
Mybpc3 T G 2: 91,123,889 F369C probably damaging Het
Nfatc2 C T 2: 168,534,984 V329M probably damaging Het
Ngef A T 1: 87,509,392 probably null Het
Nlrp1b T C 11: 71,168,859 E759G probably benign Het
Olfr432 C A 1: 174,050,625 T84N probably benign Het
Prdm4 T C 10: 85,893,152 E790G probably benign Het
Psmd12 A G 11: 107,485,781 D81G probably benign Het
Rnf144b A G 13: 47,242,883 H232R probably damaging Het
Sec63 C T 10: 42,810,909 T475M possibly damaging Het
Slc16a4 A T 3: 107,300,786 N204I probably benign Het
Socs1 T C 16: 10,784,540 N111S probably damaging Het
Srpr A G 9: 35,214,721 N432D probably damaging Het
Srrm2 A G 17: 23,815,734 probably benign Het
Svs1 A G 6: 48,987,118 H20R probably benign Het
Tgoln1 A G 6: 72,616,072 S142P possibly damaging Het
Trbv13-1 A G 6: 41,116,235 N34S probably benign Het
Vmn2r26 T C 6: 124,039,795 V406A possibly damaging Het
Vsig1 G T X: 140,926,339 G79V 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
IGL02479:Med12 APN X 101296992 unclassified probably benign
IGL02597:Med12 APN X 101284932 missense probably damaging 1.00
IGL02904:Med12 APN X 101294178 splice site probably null
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
Z1176:Med12 UTSW X 101281225 missense probably damaging 1.00
Z1176:Med12 UTSW X 101293573 missense possibly damaging 0.95
Posted On2016-08-02