Incidental Mutation 'IGL02591:Med17'
ID 299737
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 # IGL02591
Quality Score
Status
Chromosome 9
Chromosomal Location 15171647-15191227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15181657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 31 (H31L)
Ref Sequence ENSEMBL: ENSMUSP00000148980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034411] [ENSMUST00000213788] [ENSMUST00000216406]
AlphaFold Q8VCD5
Predicted Effect possibly damaging
Transcript: ENSMUST00000034411
AA Change: H435L

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034411
Gene: ENSMUSG00000031935
AA Change: H435L

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 damaging
Transcript: ENSMUST00000213788
AA Change: H31L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A T 2: 19,485,249 (GRCm39) F448I probably benign Het
Afg3l1 T C 8: 124,212,748 (GRCm39) F170L probably damaging Het
Aox1 A T 1: 58,398,158 (GRCm39) R1300* probably null Het
Cadps G A 14: 12,473,465 (GRCm38) R899C probably damaging Het
Ckap4 T C 10: 84,364,454 (GRCm39) D203G probably damaging Het
Dsg1c A G 18: 20,408,249 (GRCm39) N433D probably damaging Het
Eapp T C 12: 54,739,607 (GRCm39) N70S probably damaging Het
Eno3 A T 11: 70,552,853 (GRCm39) D378V probably damaging Het
Ep400 T A 5: 110,881,638 (GRCm39) probably benign Het
F13a1 T A 13: 37,082,031 (GRCm39) I558F probably damaging Het
Fermt1 A T 2: 132,776,786 (GRCm39) M234K possibly damaging Het
Fgfr1op2 A G 6: 146,490,344 (GRCm39) Q81R probably damaging Het
Gpm6a C T 8: 55,511,954 (GRCm39) A276V probably damaging Het
Hecw1 C A 13: 14,531,821 (GRCm39) probably benign Het
Ikbip G T 10: 90,932,154 (GRCm39) C266F probably damaging Het
Lpar2 C T 8: 70,276,700 (GRCm39) A163V probably benign Het
Or5g25 C A 2: 85,478,487 (GRCm39) M59I probably damaging Het
Otoa T C 7: 120,755,053 (GRCm39) F992L probably damaging Het
Ptprd T C 4: 75,900,287 (GRCm39) H864R probably damaging Het
Samd9l A C 6: 3,375,760 (GRCm39) C500W possibly damaging Het
Sarm1 A T 11: 78,378,178 (GRCm39) Y501N probably damaging Het
Selp A T 1: 163,957,702 (GRCm39) H277L probably damaging Het
Slc39a8 T G 3: 135,590,381 (GRCm39) L358R probably damaging Het
Spi1 T A 2: 90,927,295 (GRCm39) M1K probably null Het
Thsd1 A G 8: 22,748,743 (GRCm39) E477G probably damaging Het
Tlr1 C T 5: 65,084,059 (GRCm39) V173M probably damaging Het
Tmco2 C T 4: 120,962,987 (GRCm39) D171N probably damaging Het
Ugt2b1 A G 5: 87,065,563 (GRCm39) L492P probably damaging Het
Vmn2r70 A T 7: 85,214,153 (GRCm39) I333K probably damaging Het
Zfp598 C A 17: 24,896,478 (GRCm39) P185Q probably damaging Het
Zfp711 T A X: 111,542,391 (GRCm39) M474K probably benign Het
Zscan18 T C 7: 12,509,206 (GRCm39) probably benign 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
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