Incidental Mutation 'IGL01062:Med17'
ID 51855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med17
Ensembl Gene ENSMUSG00000031935
Gene Name mediator complex subunit 17
Synonyms Trap80, C330002H14Rik, Crsp6
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # IGL01062
Quality Score
Chromosome 9
Chromosomal Location 15260351-15279931 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15279621 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 58 (E58G)
Ref Sequence ENSEMBL: ENSMUSP00000150968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034411] [ENSMUST00000034414] [ENSMUST00000178977] [ENSMUST00000180339] [ENSMUST00000216406] [ENSMUST00000216955]
AlphaFold Q8VCD5
Predicted Effect probably benign
Transcript: ENSMUST00000034411
AA Change: E58G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000034411
Gene: ENSMUSG00000031935
AA Change: E58G

low complexity region 51 82 N/A INTRINSIC
Pfam:Med17 123 452 8.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034414
SMART Domains Protein: ENSMUSP00000034414
Gene: ENSMUSG00000031938

DUF1907 19 303 3.83e-200 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178977
SMART Domains Protein: ENSMUSP00000136335
Gene: ENSMUSG00000031938

DUF1907 19 303 3.83e-200 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180339
SMART Domains Protein: ENSMUSP00000136717
Gene: ENSMUSG00000031938

DUF1907 19 303 3.83e-200 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000216406
AA Change: E58G

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000216955
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T A 4: 41,511,433 (GRCm38) E93D probably damaging Het
Aen G A 7: 78,907,302 (GRCm38) M299I probably damaging Het
Amer3 A G 1: 34,586,739 (GRCm38) K20E probably damaging Het
Arhgap31 A G 16: 38,601,456 (GRCm38) L1416P probably damaging Het
Avpr1a G A 10: 122,449,529 (GRCm38) C242Y probably damaging Het
Bclaf3 T C X: 159,553,419 (GRCm38) Y281H probably benign Het
Cdc14a T A 3: 116,274,712 (GRCm38) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm38) S162N probably damaging Het
Cntn4 T C 6: 106,618,278 (GRCm38) probably benign Het
Cyp3a44 T A 5: 145,794,339 (GRCm38) D217V possibly damaging Het
Eprs A G 1: 185,379,615 (GRCm38) E274G probably benign Het
Ercc6l2 G T 13: 63,847,454 (GRCm38) Q354H probably null Het
Glb1l A T 1: 75,201,238 (GRCm38) I392N probably damaging Het
Gm3173 T C 14: 4,514,887 (GRCm38) probably null Het
Grasp A G 15: 101,228,896 (GRCm38) probably benign Het
Hadh C T 3: 131,240,991 (GRCm38) V219M probably damaging Het
Hspb9 A G 11: 100,713,935 (GRCm38) H29R possibly damaging Het
Iqgap3 G T 3: 88,110,122 (GRCm38) V240L probably benign Het
Jmjd1c T C 10: 67,226,715 (GRCm38) S1616P probably damaging Het
Knl1 A G 2: 119,076,980 (GRCm38) I1662V probably benign Het
Mapre3 A G 5: 30,864,896 (GRCm38) I236V probably benign Het
Myh6 T C 14: 54,952,292 (GRCm38) E1099G probably damaging Het
Myt1 T A 2: 181,797,729 (GRCm38) V348D probably damaging Het
Nat10 A T 2: 103,743,048 (GRCm38) I368N probably damaging Het
Nol6 T C 4: 41,118,205 (GRCm38) I811V probably benign Het
Oas1d C A 5: 120,919,064 (GRCm38) Y244* probably null Het
Olfr49 A T 14: 54,282,724 (GRCm38) M57K probably damaging Het
Osbpl1a A G 18: 12,905,075 (GRCm38) V273A probably benign Het
Pigw T C 11: 84,877,943 (GRCm38) R187G probably benign Het
Plekhg5 G A 4: 152,108,496 (GRCm38) D603N probably damaging Het
Ptprk T C 10: 28,580,418 (GRCm38) V1058A probably damaging Het
Robo4 G A 9: 37,406,000 (GRCm38) S537N probably benign Het
Rptn T A 3: 93,397,182 (GRCm38) F607L probably benign Het
Sall1 A G 8: 89,033,344 (GRCm38) V44A probably damaging Het
Sh3bp4 C A 1: 89,143,960 (GRCm38) Q177K probably benign Het
Srrt C A 5: 137,296,307 (GRCm38) G779V probably damaging Het
Tex21 T C 12: 76,198,944 (GRCm38) D526G probably benign Het
Tmem57 A T 4: 134,833,297 (GRCm38) V125E probably damaging Het
Ttc37 T A 13: 76,155,462 (GRCm38) L1225* probably null Het
Vmn1r10 A G 6: 57,113,836 (GRCm38) S138G possibly damaging Het
Yars2 C T 16: 16,306,542 (GRCm38) R338* probably null Het
Zfp454 T C 11: 50,874,206 (GRCm38) E22G probably benign Het
Zzef1 T A 11: 72,874,969 (GRCm38) C1441S probably benign Het
Other mutations in Med17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02263:Med17 APN 9 15,267,476 (GRCm38) missense probably damaging 0.98
IGL02390:Med17 APN 9 15,277,667 (GRCm38) nonsense probably null
IGL02391:Med17 APN 9 15,277,667 (GRCm38) nonsense probably null
IGL02392:Med17 APN 9 15,277,667 (GRCm38) nonsense probably null
IGL02393:Med17 APN 9 15,277,667 (GRCm38) nonsense probably null
IGL02591:Med17 APN 9 15,270,361 (GRCm38) missense probably damaging 1.00
IGL02635:Med17 APN 9 15,274,549 (GRCm38) missense probably damaging 1.00
IGL02745:Med17 APN 9 15,265,346 (GRCm38) splice site probably benign
IGL02815:Med17 APN 9 15,262,267 (GRCm38) missense probably damaging 1.00
IGL02897:Med17 APN 9 15,267,534 (GRCm38) missense probably damaging 1.00
R1448:Med17 UTSW 9 15,275,843 (GRCm38) splice site probably null
R2912:Med17 UTSW 9 15,275,914 (GRCm38) missense probably damaging 1.00
R2937:Med17 UTSW 9 15,275,891 (GRCm38) missense probably damaging 0.99
R3715:Med17 UTSW 9 15,263,766 (GRCm38) splice site probably benign
R4175:Med17 UTSW 9 15,267,469 (GRCm38) missense possibly damaging 0.93
R4557:Med17 UTSW 9 15,271,697 (GRCm38) missense possibly damaging 0.86
R4701:Med17 UTSW 9 15,270,360 (GRCm38) missense probably damaging 1.00
R4865:Med17 UTSW 9 15,265,372 (GRCm38) nonsense probably null
R5169:Med17 UTSW 9 15,277,604 (GRCm38) missense probably benign 0.03
R5510:Med17 UTSW 9 15,270,404 (GRCm38) missense probably benign
R6326:Med17 UTSW 9 15,279,558 (GRCm38) missense probably benign 0.32
R6393:Med17 UTSW 9 15,274,583 (GRCm38) missense probably damaging 1.00
R6598:Med17 UTSW 9 15,271,700 (GRCm38) missense probably benign 0.29
R7722:Med17 UTSW 9 15,271,691 (GRCm38) missense probably benign 0.01
R8181:Med17 UTSW 9 15,277,632 (GRCm38) missense possibly damaging 0.75
R8348:Med17 UTSW 9 15,262,439 (GRCm38) critical splice acceptor site probably null
R8377:Med17 UTSW 9 15,262,359 (GRCm38) missense probably damaging 1.00
R8448:Med17 UTSW 9 15,262,439 (GRCm38) critical splice acceptor site probably null
R8754:Med17 UTSW 9 15,277,600 (GRCm38) missense possibly damaging 0.73
R9409:Med17 UTSW 9 15,265,399 (GRCm38) missense probably benign 0.00
R9655:Med17 UTSW 9 15,265,423 (GRCm38) missense possibly damaging 0.91
Posted On 2013-06-21