Incidental Mutation 'IGL02434:Med14'
ID293215
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: 0.941) question?
Stock #IGL02434
Quality Score
Status
ChromosomeX
Chromosomal Location12675369-12762073 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 12745824 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 371 (D371E)
Ref Sequence ENSEMBL: ENSMUSP00000094239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076016] [ENSMUST00000096495]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076016
AA Change: D371E

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075395
Gene: ENSMUSG00000064127
AA Change: D371E

DomainStartEndE-ValueType
Pfam:Med14 53 246 4.5e-63 PFAM
low complexity region 608 621 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000096495
AA Change: D371E

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000094239
Gene: ENSMUSG00000064127
AA Change: D371E

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 C A 15: 73,121,081 G525V probably damaging Het
Agxt2 T C 15: 10,358,600 S2P possibly damaging Het
Atg2b C T 12: 105,639,207 V339I probably benign Het
Btc T A 5: 91,362,327 I136F probably damaging Het
Cemip A T 7: 83,955,284 M850K probably damaging Het
Cfap54 T A 10: 93,066,754 T179S probably benign Het
Chd7 T C 4: 8,752,145 L214P probably benign Het
Garnl3 T A 2: 33,054,205 N114I probably damaging Het
Gm10010 G T 6: 128,200,470 noncoding transcript Het
Gstcd A G 3: 132,996,202 probably benign Het
Htr2b A G 1: 86,110,770 V38A probably benign Het
Hyal4 G A 6: 24,763,858 W339* probably null Het
Ifnb1 A G 4: 88,522,518 V86A probably damaging Het
Itpr1 A G 6: 108,489,922 probably null Het
Jag1 T C 2: 137,087,155 S794G probably benign Het
Kdm5c T A X: 152,233,562 M1K probably null Het
Lct A G 1: 128,303,790 V774A probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Nrcam A G 12: 44,590,243 probably benign Het
Olfr116 T A 17: 37,624,576 N20Y possibly damaging Het
Olfr670 A T 7: 104,960,072 M220K probably benign Het
Olfr670 A T 7: 104,960,074 Y219* probably null Het
Pitpnm1 C T 19: 4,103,377 R178W probably benign Het
Prkcg A G 7: 3,318,890 I324V probably benign Het
Prpmp5 T A 6: 132,312,376 R162W unknown Het
Prr30 A T 14: 101,198,368 C253S possibly damaging Het
Ptgis A T 2: 167,240,342 probably null Het
Rab11fip3 C T 17: 26,068,835 A115T possibly damaging Het
Reps2 C T X: 162,526,257 probably null Het
Rev3l A G 10: 39,822,591 D1028G probably damaging Het
Rsbn1l T C 5: 20,919,734 R357G probably damaging Het
Scn5a A G 9: 119,533,793 L587P possibly damaging Het
Tanc2 C T 11: 105,780,042 T155I probably benign Het
Tfb2m A G 1: 179,532,135 probably benign Het
Tfpi A G 2: 84,452,548 probably benign Het
Tg T C 15: 66,764,342 S593P probably damaging Het
Unc13c T C 9: 73,932,628 S314G probably benign Het
Other mutations in Med14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Med14 APN X 12746764 splice site probably benign
IGL00670:Med14 APN X 12754189 missense probably damaging 0.98
IGL00895:Med14 APN X 12680800 missense probably damaging 0.99
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 On2015-04-16