Incidental Mutation 'IGL02392:Med17'
ID294282
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 #IGL02392
Quality Score
Status
Chromosome9
Chromosomal Location15260351-15279931 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 15277667 bp
ZygosityHeterozygous
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]
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
C2cd6 T C 1: 59,094,838 N8S probably benign Het
Cdh8 G A 8: 99,030,755 T737M probably damaging Het
Celsr3 T C 9: 108,834,721 probably benign Het
Cenph T A 13: 100,772,761 Q46L probably benign Het
Dlg5 A G 14: 24,150,209 C1395R probably damaging Het
Dnah8 C T 17: 30,818,051 probably benign Het
Dolk T C 2: 30,285,728 N102D probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Farp2 G A 1: 93,577,650 R368Q probably damaging Het
Fermt3 A T 19: 7,018,815 M4K probably benign Het
Fndc8 A C 11: 82,898,603 T196P probably damaging Het
Galc G A 12: 98,207,413 T630I probably damaging Het
Gm21970 T G 16: 91,414,657 S128A possibly damaging Het
Gpr146 T C 5: 139,392,778 S112P probably damaging Het
Grip2 A G 6: 91,787,295 S51P probably damaging Het
Htra2 G T 6: 83,054,299 T43N possibly damaging Het
Lnpep T C 17: 17,579,183 Y70C possibly damaging Het
Mtdh A T 15: 34,099,577 N158Y probably damaging Het
Neo1 A T 9: 58,925,811 H550Q possibly damaging Het
Olfr480 A C 7: 108,066,503 F68L probably benign Het
Olfr93 C T 17: 37,151,088 V295I probably benign Het
Pex1 C T 5: 3,605,952 Q260* probably null Het
Pex6 T C 17: 46,723,499 V758A probably damaging Het
Ppil2 T C 16: 17,088,838 T500A probably benign Het
Qsox1 T C 1: 155,812,600 E67G probably damaging Het
Rimbp2 C T 5: 128,771,797 S895N probably benign Het
Rnls A G 19: 33,202,612 V28A possibly damaging Het
Spidr T C 16: 15,889,630 *934W probably null Het
Spta1 A T 1: 174,218,814 M1654L probably damaging Het
Srbd1 C A 17: 85,988,373 V870F probably benign Het
Suco A T 1: 161,834,567 M765K probably benign Het
Taok1 A G 11: 77,549,352 Y610H probably benign Het
Thbs1 A G 2: 118,114,660 N238S probably benign Het
Them7 T A 2: 105,378,875 L180* probably null Het
Trim45 A G 3: 100,925,305 I285V probably benign Het
Trim66 T C 7: 109,460,274 K921R probably benign Het
Ttn A G 2: 76,771,543 S10265P probably damaging Het
Vgll3 A T 16: 65,815,670 Y13F probably damaging Het
Ylpm1 T A 12: 85,014,957 M544K unknown Het
Zmym1 T A 4: 127,048,463 S711C 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
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
IGL02815:Med17 APN 9 15262267 missense probably damaging 1.00
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
Posted On2015-04-16