Incidental Mutation 'IGL02815:Med17'
ID360762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med17
Ensembl Gene ENSMUSG00000031935
Gene Namemediator complex subunit 17
SynonymsTrap80, C330002H14Rik, Crsp6
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL02815
Quality Score
Status
Chromosome9
Chromosomal Location15260351-15279931 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 15262267 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 637 (M637R)
Ref Sequence ENSEMBL: ENSMUSP00000034411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034411] [ENSMUST00000034413] [ENSMUST00000213788]
Predicted Effect probably damaging
Transcript: ENSMUST00000034411
AA Change: M637R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034411
Gene: ENSMUSG00000031935
AA Change: M637R

DomainStartEndE-ValueType
low complexity region 51 82 N/A INTRINSIC
Pfam:Med17 123 452 8.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034413
SMART Domains Protein: ENSMUSP00000034413
Gene: ENSMUSG00000031937

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IG 39 138 2e-3 SMART
transmembrane domain 147 169 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000213788
AA Change: M187R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik A T 6: 40,964,795 I3F probably benign Het
Alms1 G A 6: 85,667,957 probably null Het
Ap3m1 T C 14: 21,036,682 D393G probably damaging Het
Arfgef3 T A 10: 18,652,551 I363F probably damaging Het
Col19a1 T A 1: 24,285,251 probably null Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dnmt3a G A 12: 3,904,226 probably null Het
Emc2 T A 15: 43,507,930 probably benign Het
Epm2aip1 T C 9: 111,273,560 S534P probably benign Het
Farp2 A C 1: 93,560,285 N78T probably damaging Het
Fut8 T A 12: 77,365,083 N106K probably benign Het
Gc A G 5: 89,457,659 probably null Het
Gemin5 T C 11: 58,146,409 Y660C probably damaging Het
Gfpt2 T A 11: 49,823,257 D280E possibly damaging Het
Il16 T C 7: 83,651,041 E348G probably damaging Het
Ints1 G A 5: 139,755,282 T1874M probably damaging Het
Klrb1b A G 6: 128,820,974 L52P probably damaging Het
Lamb3 A T 1: 193,325,555 probably benign Het
Myo18b A G 5: 112,809,735 L1454P probably damaging Het
Mysm1 A T 4: 94,957,048 probably null Het
Naip5 T C 13: 100,222,731 T666A probably benign Het
Nbas T A 12: 13,310,266 S348T probably damaging Het
Pex1 A T 5: 3,636,797 K1226M probably damaging Het
Pi4ka A G 16: 17,358,889 probably benign Het
Pigr T A 1: 130,841,821 V123D probably damaging Het
Pilra G A 5: 137,831,305 P163S probably benign Het
Plekha4 T C 7: 45,538,412 S303P probably damaging Het
Prrc2b A G 2: 32,204,253 E549G probably damaging Het
Ptchd3 C T 11: 121,841,604 S440L probably benign Het
Rock2 A G 12: 16,966,701 probably benign Het
Scn1a A G 2: 66,324,858 S586P probably damaging Het
Slc38a6 T A 12: 73,292,205 H95Q probably damaging Het
Spata31d1d A T 13: 59,726,864 N952K possibly damaging Het
Stard10 T A 7: 101,343,998 C254S probably benign Het
Taar8a A T 10: 24,077,380 Y294F probably benign Het
Tm7sf3 A T 6: 146,613,473 probably null Het
Tnfrsf8 A T 4: 145,298,778 V75D possibly damaging Het
Tor1aip1 C T 1: 156,035,916 R107H probably damaging Het
Trpc4 C T 3: 54,299,274 probably benign Het
Unc13c A G 9: 73,540,263 L1885P possibly damaging Het
Vmn2r9 T C 5: 108,842,990 D835G possibly damaging Het
Zfp462 A T 4: 55,051,303 I1172F probably damaging Het
Other mutations in Med17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Med17 APN 9 15279621 missense probably benign 0.19
IGL02263:Med17 APN 9 15267476 missense probably damaging 0.98
IGL02390:Med17 APN 9 15277667 nonsense probably null
IGL02391:Med17 APN 9 15277667 nonsense probably null
IGL02392:Med17 APN 9 15277667 nonsense probably null
IGL02393:Med17 APN 9 15277667 nonsense probably null
IGL02591:Med17 APN 9 15270361 missense probably damaging 1.00
IGL02635:Med17 APN 9 15274549 missense probably damaging 1.00
IGL02745:Med17 APN 9 15265346 splice site probably benign
IGL02897:Med17 APN 9 15267534 missense probably damaging 1.00
R1448:Med17 UTSW 9 15275843 splice site probably null
R2912:Med17 UTSW 9 15275914 missense probably damaging 1.00
R2937:Med17 UTSW 9 15275891 missense probably damaging 0.99
R3715:Med17 UTSW 9 15263766 splice site probably benign
R4175:Med17 UTSW 9 15267469 missense possibly damaging 0.93
R4557:Med17 UTSW 9 15271697 missense possibly damaging 0.86
R4701:Med17 UTSW 9 15270360 missense probably damaging 1.00
R4865:Med17 UTSW 9 15265372 nonsense probably null
R5169:Med17 UTSW 9 15277604 missense probably benign 0.03
R5510:Med17 UTSW 9 15270404 missense probably benign
R6326:Med17 UTSW 9 15279558 missense probably benign 0.32
R6393:Med17 UTSW 9 15274583 missense probably damaging 1.00
R6598:Med17 UTSW 9 15271700 missense probably benign 0.29
R7722:Med17 UTSW 9 15271691 missense probably benign 0.01
Posted On2015-12-18