Incidental Mutation 'IGL02745:Med17'
ID306141
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 #IGL02745
Quality Score
Status
Chromosome9
Chromosomal Location15260351-15279931 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 15265346 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034411] [ENSMUST00000213788]
Predicted Effect probably benign
Transcript: ENSMUST00000034411
SMART Domains Protein: ENSMUSP00000034411
Gene: ENSMUSG00000031935

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: ENSMUST00000213788
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,228,081 E167G probably benign Het
Aldh1a1 A G 19: 20,636,664 probably benign Het
Ankrd44 T C 1: 54,766,791 H152R probably damaging Het
Bpifb4 T A 2: 153,947,221 L316Q probably damaging Het
C2cd5 A T 6: 143,041,530 L155I probably benign Het
Chrdl2 T A 7: 100,020,963 C98S probably damaging Het
Clnk A G 5: 38,736,319 S232P probably benign Het
Csf3 A G 11: 98,702,477 D140G probably damaging Het
Dnah7b T A 1: 46,195,029 probably benign Het
Fam129c G T 8: 71,605,038 probably null Het
Fam208b A T 13: 3,585,140 S556T probably benign Het
Fetub T C 16: 22,937,926 V259A probably damaging Het
Gga2 G T 7: 122,008,369 R108S probably damaging Het
Hip1r C A 5: 123,990,939 probably null Het
Hsd17b3 A G 13: 64,087,176 F62L probably benign Het
Krt16 A T 11: 100,246,336 probably benign Het
Man1a C T 10: 53,977,110 R304Q probably damaging Het
Mrgprb4 T C 7: 48,198,358 Y274C probably damaging Het
Myh8 C T 11: 67,297,501 T996I possibly damaging Het
Nlrp4e T A 7: 23,321,291 L401Q probably damaging Het
Oas1h G A 5: 120,861,479 R9Q probably benign Het
Olfr1216 A G 2: 89,013,888 Y59H probably damaging Het
Olfr1424 C T 19: 12,059,201 V184I probably benign Het
Olfr919 T C 9: 38,698,198 H56R probably damaging Het
Otor A G 2: 143,081,156 D122G possibly damaging Het
Pcdh18 T A 3: 49,755,891 Q325L probably damaging Het
Ppfibp1 T C 6: 147,022,354 probably benign Het
Pramef25 A T 4: 143,950,724 L95Q probably damaging Het
Prlr T A 15: 10,328,594 I385N possibly damaging Het
Rap1gds1 A G 3: 138,956,241 V418A probably damaging Het
Rdh1 A T 10: 127,765,419 T279S probably benign Het
Slc17a3 C A 13: 23,842,486 Q13K probably benign Het
Slc22a20 T C 19: 5,972,873 N414S probably damaging Het
Slc4a1 C A 11: 102,356,267 C498F probably damaging Het
Sp8 G A 12: 118,849,591 G394S probably damaging Het
Ssh2 C T 11: 77,455,407 T1406I probably damaging Het
Stra6 T A 9: 58,152,038 D561E probably damaging Het
Stxbp5l G A 16: 37,186,654 Q726* probably null Het
Synpo2 G A 3: 123,113,612 T685I probably damaging Het
Ttc27 A G 17: 74,739,733 D263G probably benign Het
Ttn G A 2: 76,763,988 P18793S possibly damaging Het
Vmn2r109 A G 17: 20,541,250 V615A probably damaging Het
Vmn2r76 T G 7: 86,230,287 K268N probably benign Het
Zeb2 A G 2: 44,994,475 probably benign Het
Zfp286 C A 11: 62,780,874 K124N 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
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
Posted On2015-04-16