Incidental Mutation 'IGL02391:Med17'
ID 293870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med17
Ensembl Gene ENSMUSG00000031935
Gene Name mediator complex subunit 17
Synonyms Crsp6, C330002H14Rik, Trap80
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL02391
Quality Score
Status
Chromosome 9
Chromosomal Location 15171647-15191227 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 15188963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 101 (R101*)
Ref Sequence ENSEMBL: ENSMUSP00000034411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034411] [ENSMUST00000216406]
AlphaFold Q8VCD5
Predicted Effect probably null
Transcript: ENSMUST00000034411
AA Change: R101*
SMART Domains Protein: ENSMUSP00000034411
Gene: ENSMUSG00000031935
AA Change: R101*

DomainStartEndE-ValueType
low complexity region 51 82 N/A INTRINSIC
Pfam:Med17 123 452 8.5e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213356
Predicted Effect probably benign
Transcript: ENSMUST00000216406
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,790,764 (GRCm39) N748Y probably damaging Het
Actbl2 A G 13: 111,391,701 (GRCm39) D12G possibly damaging Het
Adamts10 T C 17: 33,747,785 (GRCm39) S74P probably benign Het
Adprs C T 4: 126,211,701 (GRCm39) probably benign Het
Amn1 A G 6: 149,070,944 (GRCm39) probably null Het
Antxr1 A T 6: 87,264,038 (GRCm39) I144N probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Cabp5 A T 7: 13,132,269 (GRCm39) R13* probably null Het
Cacna1e A G 1: 154,296,859 (GRCm39) Y1669H probably damaging Het
Ccdc174 A G 6: 91,875,263 (GRCm39) E364G possibly damaging Het
Ccdc18 C T 5: 108,283,918 (GRCm39) P74S probably damaging Het
Clec3a C T 8: 115,152,240 (GRCm39) S82L probably benign Het
Cnih3 A G 1: 181,234,078 (GRCm39) D43G probably damaging Het
Dpp10 G A 1: 123,578,087 (GRCm39) T128M probably damaging Het
Edar A T 10: 58,464,403 (GRCm39) F79I probably damaging Het
Eif2ak4 T A 2: 118,251,272 (GRCm39) H199Q probably benign Het
Fermt1 A G 2: 132,783,871 (GRCm39) L46P probably damaging Het
Glipr1 A G 10: 111,824,799 (GRCm39) probably benign Het
Gsdmc T C 15: 63,675,428 (GRCm39) N129S probably damaging Het
Ift88 T C 14: 57,718,871 (GRCm39) S619P possibly damaging Het
Itga9 T A 9: 118,679,873 (GRCm39) V262E probably benign Het
Mta1 T A 12: 113,100,203 (GRCm39) I688N possibly damaging Het
Muc4 A T 16: 32,570,894 (GRCm39) R651S probably benign Het
Opcml A G 9: 28,586,560 (GRCm39) I93V probably damaging Het
Or12d17 C T 17: 37,777,477 (GRCm39) P127S probably damaging Het
Or13p4 A G 4: 118,547,538 (GRCm39) L37P probably damaging Het
Or9r7 A G 10: 129,962,773 (GRCm39) V51A possibly damaging Het
Parg T G 14: 31,984,638 (GRCm39) probably null Het
Rps3a3 A G 13: 108,807,417 (GRCm39) probably benign Het
Safb T A 17: 56,907,813 (GRCm39) probably benign Het
Sat2 G T 11: 69,513,575 (GRCm39) C54F probably damaging Het
Scin T A 12: 40,127,530 (GRCm39) Y420F probably benign Het
Slc22a29 A T 19: 8,146,717 (GRCm39) S362T probably benign Het
Smchd1 T C 17: 71,738,254 (GRCm39) D537G probably null Het
Spred3 A G 7: 28,865,830 (GRCm39) S126P probably benign Het
Ssh1 C T 5: 114,080,578 (GRCm39) E951K probably damaging Het
Ssmem1 A G 6: 30,512,441 (GRCm39) E28G possibly damaging Het
Stox1 A T 10: 62,495,455 (GRCm39) probably benign Het
Syn3 T C 10: 85,900,770 (GRCm39) I373V probably benign Het
Tecrl A T 5: 83,502,674 (GRCm39) F58L probably benign Het
Trp53bp1 T C 2: 121,033,191 (GRCm39) N1655S possibly damaging Het
Usp2 G T 9: 44,002,524 (GRCm39) Q147H probably damaging Het
Usp24 T A 4: 106,264,326 (GRCm39) N1751K possibly damaging Het
Wipf1 T A 2: 73,264,487 (GRCm39) D438V probably damaging Het
Other mutations in Med17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Med17 APN 9 15,190,917 (GRCm39) missense probably benign 0.19
IGL02263:Med17 APN 9 15,178,772 (GRCm39) missense probably damaging 0.98
IGL02390:Med17 APN 9 15,188,963 (GRCm39) nonsense probably null
IGL02392:Med17 APN 9 15,188,963 (GRCm39) nonsense probably null
IGL02393:Med17 APN 9 15,188,963 (GRCm39) nonsense probably null
IGL02591:Med17 APN 9 15,181,657 (GRCm39) missense probably damaging 1.00
IGL02635:Med17 APN 9 15,185,845 (GRCm39) missense probably damaging 1.00
IGL02745:Med17 APN 9 15,176,642 (GRCm39) splice site probably benign
IGL02815:Med17 APN 9 15,173,563 (GRCm39) missense probably damaging 1.00
IGL02897:Med17 APN 9 15,178,830 (GRCm39) missense probably damaging 1.00
R1448:Med17 UTSW 9 15,187,139 (GRCm39) splice site probably null
R2912:Med17 UTSW 9 15,187,210 (GRCm39) missense probably damaging 1.00
R2937:Med17 UTSW 9 15,187,187 (GRCm39) missense probably damaging 0.99
R3715:Med17 UTSW 9 15,175,062 (GRCm39) splice site probably benign
R4175:Med17 UTSW 9 15,178,765 (GRCm39) missense possibly damaging 0.93
R4557:Med17 UTSW 9 15,182,993 (GRCm39) missense possibly damaging 0.86
R4701:Med17 UTSW 9 15,181,656 (GRCm39) missense probably damaging 1.00
R4865:Med17 UTSW 9 15,176,668 (GRCm39) nonsense probably null
R5169:Med17 UTSW 9 15,188,900 (GRCm39) missense probably benign 0.03
R5510:Med17 UTSW 9 15,181,700 (GRCm39) missense probably benign
R6326:Med17 UTSW 9 15,190,854 (GRCm39) missense probably benign 0.32
R6393:Med17 UTSW 9 15,185,879 (GRCm39) missense probably damaging 1.00
R6598:Med17 UTSW 9 15,182,996 (GRCm39) missense probably benign 0.29
R7722:Med17 UTSW 9 15,182,987 (GRCm39) missense probably benign 0.01
R8181:Med17 UTSW 9 15,188,928 (GRCm39) missense possibly damaging 0.75
R8348:Med17 UTSW 9 15,173,735 (GRCm39) critical splice acceptor site probably null
R8377:Med17 UTSW 9 15,173,655 (GRCm39) missense probably damaging 1.00
R8448:Med17 UTSW 9 15,173,735 (GRCm39) critical splice acceptor site probably null
R8754:Med17 UTSW 9 15,188,896 (GRCm39) missense possibly damaging 0.73
R9409:Med17 UTSW 9 15,176,695 (GRCm39) missense probably benign 0.00
R9655:Med17 UTSW 9 15,176,719 (GRCm39) missense possibly damaging 0.91
Posted On 2015-04-16