Incidental Mutation 'IGL02390:Med17'
ID294228
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 #IGL02390
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik T C 7: 34,248,218 D455G probably damaging Het
Abca5 T C 11: 110,296,551 K894R probably benign Het
Ampd1 C T 3: 103,079,041 A12V probably benign Het
Ano4 T A 10: 89,024,981 D345V possibly damaging Het
Arl6 A G 16: 59,621,217 probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atrn C T 2: 131,020,977 P1326S possibly damaging Het
Btbd9 A G 17: 30,524,814 V238A probably benign Het
Cdh16 T C 8: 104,621,974 T141A probably damaging Het
Cetn4 T C 3: 37,309,156 D102G probably damaging Het
Col5a3 T A 9: 20,776,996 N1256I unknown Het
Cyfip2 A G 11: 46,221,398 F993L possibly damaging Het
Dcaf6 T A 1: 165,422,921 I125F possibly damaging Het
Dclk2 A C 3: 86,824,683 S336A probably damaging Het
Dnah8 G A 17: 30,830,845 V4327I probably benign Het
Ebna1bp2 T C 4: 118,621,497 V59A possibly damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
F2 A T 2: 91,632,987 V184D possibly damaging Het
Fbxo38 C T 18: 62,533,589 R171H probably damaging Het
Fhod3 A C 18: 25,066,275 S668R probably benign Het
Fkbp10 T A 11: 100,416,017 F78L probably damaging Het
Gm13083 T A 4: 143,615,325 M108K probably benign Het
Hyi C T 4: 118,362,613 R254C probably benign Het
Igfl3 A T 7: 18,181,734 probably benign Het
Lgals9 T A 11: 78,963,535 I308F probably damaging Het
Lrrc8a C A 2: 30,256,701 P509Q probably damaging Het
Mapkap1 T A 2: 34,432,089 N6K probably damaging Het
Mdh1b T A 1: 63,721,557 H115L probably benign Het
Mrpl15 T C 1: 4,785,614 S22G probably benign Het
Nf1 T A 11: 79,411,676 probably benign Het
Nf1 T C 11: 79,565,935 Y616H possibly damaging Het
Olfr107 A T 17: 37,406,095 L182F probably benign Het
Olfr1312 A T 2: 112,042,711 V107E possibly damaging Het
Olfr270 T A 4: 52,971,263 I214N probably damaging Het
Olig1 C A 16: 91,270,153 Q93K probably damaging Het
Otoa C A 7: 121,131,367 L597M possibly damaging Het
Parp16 C T 9: 65,233,769 P207L possibly damaging Het
Pbrm1 T A 14: 31,032,510 D162E probably benign Het
Prdm10 A G 9: 31,353,389 I658V possibly damaging Het
Psg21 A T 7: 18,652,631 H143Q probably benign Het
Rfx4 C T 10: 84,840,150 R28W probably damaging Het
Sart1 T G 19: 5,380,461 M753L possibly damaging Het
Smcr8 T A 11: 60,779,722 D565E probably benign Het
Smyd4 T A 11: 75,387,506 probably null Het
Sned1 T C 1: 93,261,664 V274A probably benign Het
Tbc1d13 T C 2: 30,137,387 probably benign Het
Tox A T 4: 6,697,534 I423N possibly damaging Het
Tsc2 A T 17: 24,600,453 V1232D probably damaging Het
Uckl1 C T 2: 181,574,419 V178I possibly damaging Het
Usp13 T A 3: 32,931,716 Y175* probably null Het
Vwde A G 6: 13,190,685 V469A 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
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
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
R7722:Med17 UTSW 9 15271691 missense probably benign 0.01
R8181:Med17 UTSW 9 15277632 missense possibly damaging 0.75
R8348:Med17 UTSW 9 15262439 critical splice acceptor site probably null
R8377:Med17 UTSW 9 15262359 missense probably damaging 1.00
Posted On2015-04-16