Incidental Mutation 'IGL00565:Med14'
ID11944
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med14
Ensembl Gene ENSMUSG00000064127
Gene Namemediator complex subunit 14
SynonymsTrap170, LOC270579, Crsp2, ENSMUSG00000073278, ORF1, 9930001L01Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.937) question?
Stock #IGL00565
Quality Score
Status
ChromosomeX
Chromosomal Location12675369-12762073 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 12746764 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000094239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076016] [ENSMUST00000096495]
Predicted Effect probably benign
Transcript: ENSMUST00000076016
SMART Domains Protein: ENSMUSP00000075395
Gene: ENSMUSG00000064127

DomainStartEndE-ValueType
Pfam:Med14 53 246 4.5e-63 PFAM
low complexity region 608 621 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096495
SMART Domains Protein: ENSMUSP00000094239
Gene: ENSMUSG00000064127

DomainStartEndE-ValueType
low complexity region 13 54 N/A INTRINSIC
Pfam:Med14 55 244 6.7e-63 PFAM
low complexity region 608 621 N/A INTRINSIC
low complexity region 1005 1018 N/A INTRINSIC
low complexity region 1065 1086 N/A INTRINSIC
low complexity region 1346 1361 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124053
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C A 7: 41,625,572 T233K possibly damaging Het
Adamts9 A T 6: 92,859,902 M623K possibly damaging Het
Arid1a T G 4: 133,685,482 D1467A unknown Het
Cdhr2 A G 13: 54,718,299 D304G probably damaging Het
Cenpj C T 14: 56,553,030 V521I probably benign Het
Csf2rb G T 15: 78,348,514 E674* probably null Het
Edaradd C T 13: 12,483,599 probably null Het
Emilin2 A G 17: 71,252,859 V1041A possibly damaging Het
Fam135b A G 15: 71,471,512 V418A probably benign Het
Fam96a A T 9: 66,132,616 I72L probably benign Het
Gnas T A 2: 174,341,711 probably benign Het
Grxcr1 A T 5: 68,032,197 N104Y possibly damaging Het
Gtf2a1l T A 17: 88,694,295 L146Q probably damaging Het
Hectd1 T A 12: 51,790,398 E791D probably damaging Het
Ifi203 A G 1: 173,937,740 probably null Het
Klk1b11 A G 7: 43,999,819 N260S probably damaging Het
Map4 A T 9: 110,072,604 probably benign Het
Marveld2 C T 13: 100,600,893 V163M possibly damaging Het
Mex3b A T 7: 82,868,908 I144F probably damaging Het
Oraov1 G T 7: 144,916,483 V50F probably damaging Het
Pde2a T A 7: 101,484,589 C92* probably null Het
Phf6 T A X: 52,931,639 Y103N probably damaging Het
Ptprt A G 2: 161,560,191 I1039T probably damaging Het
Rftn2 C A 1: 55,204,285 V275F probably damaging Het
Skap1 C A 11: 96,731,145 Q296K probably damaging Het
Skap1 T A 11: 96,731,190 F311I probably damaging Het
Tas2r115 A G 6: 132,737,778 I70T probably benign Het
Vav2 T C 2: 27,277,238 D613G probably benign Het
Wdr63 T C 3: 146,044,919 probably benign Het
Zranb3 T C 1: 128,016,140 E290G probably benign Het
Other mutations in Med14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Med14 APN X 12754189 missense probably damaging 0.98
IGL00895:Med14 APN X 12680800 missense probably damaging 0.99
IGL02434:Med14 APN X 12745824 missense possibly damaging 0.89
IGL03064:Med14 APN X 12747503 missense probably benign 0.04
R0295:Med14 UTSW X 12685748 missense probably damaging 1.00
R2844:Med14 UTSW X 12683996 missense probably benign 0.01
R2860:Med14 UTSW X 12719697 missense probably benign
R2861:Med14 UTSW X 12719697 missense probably benign
R2862:Med14 UTSW X 12719697 missense probably benign
R3157:Med14 UTSW X 12684091 splice site probably benign
R3158:Med14 UTSW X 12684091 splice site probably benign
R3807:Med14 UTSW X 12687177 missense probably damaging 1.00
X0022:Med14 UTSW X 12687141 missense probably damaging 1.00
Z1088:Med14 UTSW X 12677606 missense probably damaging 1.00
Posted On2012-12-06