Incidental Mutation 'IGL02897:Med17'
ID 363441
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 # IGL02897
Quality Score
Status
Chromosome 9
Chromosomal Location 15171647-15191227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 15178830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 447 (D447A)
Ref Sequence ENSEMBL: ENSMUSP00000034411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034411] [ENSMUST00000213788] [ENSMUST00000216406]
AlphaFold Q8VCD5
Predicted Effect probably damaging
Transcript: ENSMUST00000034411
AA Change: D447A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034411
Gene: ENSMUSG00000031935
AA Change: D447A

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: ENSMUST00000213788
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,467,308 (GRCm39) E108D probably benign Het
Abca7 T C 10: 79,837,426 (GRCm39) F437L probably damaging Het
Abi2 T C 1: 60,487,353 (GRCm39) V134A probably damaging Het
Ablim2 T C 5: 35,990,470 (GRCm39) I75T probably damaging Het
Aldh1a3 A G 7: 66,077,075 (GRCm39) V29A probably benign Het
Bptf T C 11: 106,937,947 (GRCm39) K2715E probably damaging Het
Cd163 A T 6: 124,302,486 (GRCm39) S1017C probably damaging Het
Cdc14b T C 13: 64,395,067 (GRCm39) I76V probably benign Het
Cers6 T A 2: 68,764,877 (GRCm39) C63* probably null Het
Chd9 T C 8: 91,660,496 (GRCm39) probably benign Het
Col19a1 T C 1: 24,573,179 (GRCm39) N198D unknown Het
Cse1l T C 2: 166,761,628 (GRCm39) C61R possibly damaging Het
Cubn T C 2: 13,323,123 (GRCm39) T2815A possibly damaging Het
Cyp19a1 G T 9: 54,074,195 (GRCm39) T453K possibly damaging Het
Dlg1 G T 16: 31,590,674 (GRCm39) probably null Het
Dpp7 T C 2: 25,243,684 (GRCm39) Y339C probably damaging Het
Dtl T C 1: 191,273,656 (GRCm39) probably benign Het
Gm5591 T C 7: 38,219,466 (GRCm39) E469G probably damaging Het
Ing3 T A 6: 21,969,325 (GRCm39) V202E probably benign Het
Inpp5j A G 11: 3,450,619 (GRCm39) L578P probably damaging Het
Irak4 A G 15: 94,451,872 (GRCm39) N155S probably benign Het
Kif2b A T 11: 91,467,045 (GRCm39) S413T probably damaging Het
L3mbtl1 A T 2: 162,807,692 (GRCm39) Y490F probably damaging Het
Med26 T C 8: 73,250,365 (GRCm39) T245A probably benign Het
Nlrc3 A T 16: 3,781,938 (GRCm39) S490R possibly damaging Het
Nme5 A G 18: 34,702,956 (GRCm39) probably benign Het
Or51aa5 T C 7: 103,167,337 (GRCm39) R85G probably benign Het
Rnf10 G T 5: 115,386,700 (GRCm39) Q530K probably benign Het
Robo3 A T 9: 37,338,798 (GRCm39) Y281* probably null Het
Sclt1 T C 3: 41,629,822 (GRCm39) I330V probably benign Het
Smim14 A T 5: 65,607,739 (GRCm39) probably benign Het
Trank1 T G 9: 111,196,585 (GRCm39) H1536Q probably damaging Het
Tspan18 A G 2: 93,050,518 (GRCm39) L35P possibly damaging Het
Ubr4 G A 4: 139,199,819 (GRCm39) V4568M probably damaging Het
Vmn1r63 A G 7: 5,805,744 (GRCm39) V296A possibly 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
IGL02391: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
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 2015-12-18