Incidental Mutation 'IGL02393:Med17'
ID 293904
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 # IGL02393
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,410,069 (GRCm39) Y129N probably damaging Het
Afap1l2 T C 19: 56,902,872 (GRCm39) K695R probably damaging Het
Arhgap18 T G 10: 26,753,179 (GRCm39) S357R probably benign Het
Camsap1 T C 2: 25,828,334 (GRCm39) H1130R probably benign Het
Cdkl4 A G 17: 80,867,844 (GRCm39) F35L probably damaging Het
Crnn A G 3: 93,056,675 (GRCm39) H487R probably damaging Het
Dcaf4 C T 12: 83,576,805 (GRCm39) P95L probably damaging Het
Deaf1 A T 7: 140,893,246 (GRCm39) V382E possibly damaging Het
Dph7 T G 2: 24,856,609 (GRCm39) V187G possibly damaging Het
Fat3 G T 9: 15,899,708 (GRCm39) C3108* probably null Het
Ggt5 T C 10: 75,446,071 (GRCm39) probably benign Het
Kif26a G A 12: 112,139,098 (GRCm39) V396M probably damaging Het
Mterf4 C T 1: 93,230,601 (GRCm39) V182I possibly damaging Het
Nsg1 T C 5: 38,316,255 (GRCm39) D32G probably damaging Het
Or5k8 A G 16: 58,644,409 (GRCm39) I221T probably damaging Het
Or6c3 T C 10: 129,309,064 (GRCm39) S168P probably damaging Het
Or6c65 T A 10: 129,603,662 (GRCm39) V99E probably benign Het
P3h2 T C 16: 25,811,575 (GRCm39) Y216C probably damaging Het
Pdzd9 A C 7: 120,262,206 (GRCm39) Y85* probably null Het
Prkdc T A 16: 15,634,622 (GRCm39) V3589D probably benign Het
Qars1 A G 9: 108,391,528 (GRCm39) T26A probably benign Het
Relch A G 1: 105,615,093 (GRCm39) I253M probably damaging Het
Rhd T C 4: 134,611,406 (GRCm39) S189P probably benign Het
Rhobtb1 A T 10: 69,124,817 (GRCm39) H555L probably damaging Het
Rogdi G A 16: 4,827,088 (GRCm39) S306F probably benign Het
Slc25a25 C T 2: 32,307,855 (GRCm39) V259I probably benign Het
Srrm1 A T 4: 135,048,725 (GRCm39) probably benign Het
Stkld1 T C 2: 26,840,154 (GRCm39) V408A probably benign Het
Thbs1 T C 2: 117,953,580 (GRCm39) V999A possibly damaging Het
Tmprss11d T A 5: 86,451,471 (GRCm39) *280L probably null Het
Trim54 A G 5: 31,289,324 (GRCm39) probably benign Het
Tspear G A 10: 77,672,407 (GRCm39) R202H probably damaging Het
Vwa8 G A 14: 79,420,417 (GRCm39) G1706D 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
IGL02391:Med17 APN 9 15,188,963 (GRCm39) nonsense probably null
IGL02392: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