Incidental Mutation 'IGL02415:Med12'
ID292407
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 #IGL02415
Quality Score
Status
ChromosomeX
Chromosomal Location101274030-101297465 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101281790 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 761 (V761A)
Ref Sequence ENSEMBL: ENSMUSP00000112729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087948] [ENSMUST00000087956] [ENSMUST00000117203] [ENSMUST00000117706]
Predicted Effect probably damaging
Transcript: ENSMUST00000087948
AA Change: V761A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085260
Gene: ENSMUSG00000079487
AA Change: V761A

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 damaging
Transcript: ENSMUST00000087956
AA Change: V761A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085269
Gene: ENSMUSG00000079487
AA Change: V761A

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 probably damaging
Transcript: ENSMUST00000117203
AA Change: V761A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112729
Gene: ENSMUSG00000079487
AA Change: V761A

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 possibly damaging
Transcript: ENSMUST00000117706
AA Change: V761A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112852
Gene: ENSMUSG00000079487
AA Change: V761A

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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,947,991 D124G probably benign Het
Adamts13 T A 2: 26,989,283 I616N possibly damaging Het
Adamts3 T C 5: 89,706,647 probably null Het
Amy1 T C 3: 113,563,585 I202V probably benign Het
Bdp1 G A 13: 100,089,408 T322I probably damaging Het
Cep295 A G 9: 15,353,020 L110S probably damaging Het
Cep72 T C 13: 74,050,154 D369G probably benign Het
Chd3 A T 11: 69,348,913 probably benign Het
Ckmt2 G A 13: 91,863,340 probably benign Het
Cyp2s1 T C 7: 25,808,137 T296A probably damaging Het
E2f5 T A 3: 14,603,897 V283E probably benign Het
F5 A G 1: 164,191,929 T658A probably damaging Het
Fam102b A G 3: 108,980,292 Y219H probably damaging Het
Gml A T 15: 74,816,440 Y59* probably null Het
Kmo A T 1: 175,649,323 probably benign Het
Krt25 A T 11: 99,322,572 I107N probably damaging Het
Llgl2 A G 11: 115,853,285 M773V probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mrpl19 T C 6: 81,963,961 T150A probably benign Het
Muc2 G T 7: 141,751,872 E646* probably null Het
Muc20 T A 16: 32,794,681 T109S unknown Het
Nr2f6 T C 8: 71,374,512 T382A probably benign Het
Nrap A G 19: 56,382,309 I172T probably damaging Het
Olfr1434 A G 19: 12,283,498 Y150C probably benign Het
Olfr911-ps1 T C 9: 38,524,112 C127R probably benign Het
P3h1 A T 4: 119,247,955 Q710L probably benign Het
Parvb A G 15: 84,292,815 H185R probably damaging Het
Pkhd1 A G 1: 20,414,421 I1970T probably damaging Het
Pkhd1 T C 1: 20,522,759 Y1710C probably damaging Het
Plxna2 C A 1: 194,643,964 R69S probably damaging Het
Rad51ap2 A G 12: 11,456,929 N284S possibly damaging Het
Reln T A 5: 21,971,951 S1906C possibly damaging Het
Rln1 T C 19: 29,334,398 R67G probably damaging Het
Shcbp1 C T 8: 4,754,239 V224I possibly damaging Het
Slc13a4 A G 6: 35,283,237 probably null Het
Stx6 A G 1: 155,193,313 E195G possibly damaging Het
Sult2b1 G T 7: 45,742,085 D90E possibly damaging Het
Taok1 A G 11: 77,540,240 probably benign Het
Tbx15 A T 3: 99,352,510 M566L probably benign Het
Tcaf1 C T 6: 42,686,650 A99T probably benign Het
Tcf20 T A 15: 82,853,459 M1264L probably benign Het
Tenm4 G A 7: 96,874,074 V1571M probably damaging Het
Ttc39a A G 4: 109,431,529 probably benign Het
Ubr1 C A 2: 120,970,603 probably benign Het
Ulk1 T C 5: 110,787,621 D926G probably damaging Het
Vmn2r110 T C 17: 20,583,771 I181V probably benign Het
Vmn2r66 G A 7: 85,006,812 T332I probably damaging Het
Wdr1 C A 5: 38,531,110 D161Y probably damaging Het
Wnt7a T C 6: 91,394,557 Y141C probably damaging Het
Xrra1 G A 7: 99,915,943 E573K probably benign Het
Zfp334 G T 2: 165,381,851 Q91K possibly 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
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
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
Z1176:Med12 UTSW X 101281225 missense probably damaging 1.00
Z1176:Med12 UTSW X 101293573 missense possibly damaging 0.95
Posted On2015-04-16