Incidental Mutation 'R4599:Med27'
ID 345407
Institutional Source Beutler Lab
Gene Symbol Med27
Ensembl Gene ENSMUSG00000026799
Gene Name mediator complex subunit 27
Synonyms Crsp8, 1500015J03Rik, 2310042P07Rik, D2Ertd434e
MMRRC Submission 041815-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R4599 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 29236831-29414805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29414470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 159 (D159G)
Ref Sequence ENSEMBL: ENSMUSP00000125390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028139] [ENSMUST00000159280]
AlphaFold Q9DB40
Predicted Effect probably damaging
Transcript: ENSMUST00000028139
AA Change: D298G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028139
Gene: ENSMUSG00000026799
AA Change: D298G

DomainStartEndE-ValueType
Pfam:Med27 228 310 7.2e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123522
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147547
Predicted Effect probably damaging
Transcript: ENSMUST00000159280
AA Change: D159G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125390
Gene: ENSMUSG00000026799
AA Change: D159G

DomainStartEndE-ValueType
Pfam:Med27 85 171 1.4e-29 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,854,626 (GRCm39) V930A probably benign Het
Ankrd13b T C 11: 77,362,494 (GRCm39) R677G probably benign Het
Apc T A 18: 34,451,040 (GRCm39) Y2611* probably null Het
Apold1 A G 6: 134,961,032 (GRCm39) Y162C probably damaging Het
Atp6v0a4 T C 6: 38,055,737 (GRCm39) I325V probably benign Het
Cab39 A G 1: 85,776,050 (GRCm39) Y249C probably damaging Het
Cd22 T A 7: 30,575,325 (GRCm39) H239L probably damaging Het
Chrna7 A G 7: 62,753,538 (GRCm39) M327T probably damaging Het
Cimip2b T C 4: 43,427,574 (GRCm39) H250R possibly damaging Het
Clock T C 5: 76,383,657 (GRCm39) M499V probably benign Het
Clspn A G 4: 126,475,253 (GRCm39) E1002G probably benign Het
Clta C T 4: 44,012,819 (GRCm39) P10S probably damaging Het
Col5a3 A G 9: 20,685,855 (GRCm39) probably null Het
Coq6 T C 12: 84,408,913 (GRCm39) V30A probably benign Het
Csmd2 G T 4: 127,881,921 (GRCm39) R20L probably benign Het
D430041D05Rik A T 2: 104,038,528 (GRCm39) V1547D probably damaging Het
Dapk1 C T 13: 60,865,861 (GRCm39) P153S probably benign Het
Dock2 T A 11: 34,189,536 (GRCm39) Y1545F probably damaging Het
Dpp6 G T 5: 27,839,546 (GRCm39) G354C probably damaging Het
Dyrk1b T C 7: 27,881,856 (GRCm39) L105P probably damaging Het
Epor A G 9: 21,873,155 (GRCm39) S86P probably benign Het
Gale C A 4: 135,695,148 (GRCm39) S341* probably null Het
Galnt4 T A 10: 98,945,355 (GRCm39) V360E probably damaging Het
Gart A T 16: 91,419,833 (GRCm39) C24* probably null Het
Gcnt2 G T 13: 41,040,966 (GRCm39) V42L probably benign Het
Herc6 A G 6: 57,636,698 (GRCm39) I805V probably benign Het
Ints12 T A 3: 132,804,214 (GRCm39) I67N probably benign Het
Irx1 C A 13: 72,108,232 (GRCm39) R150L probably damaging Het
Kif26b A G 1: 178,358,024 (GRCm39) Y45C unknown Het
Krt35 T C 11: 99,984,834 (GRCm39) T275A probably damaging Het
Laptm5 G T 4: 130,643,316 (GRCm39) probably benign Het
Lin7a T C 10: 107,248,027 (GRCm39) S111P unknown Het
Msh2 A G 17: 88,016,006 (GRCm39) K546R probably damaging Het
Myo1a A T 10: 127,556,020 (GRCm39) probably null Het
Myo1c T C 11: 75,559,019 (GRCm39) F604L probably damaging Het
Myrip A G 9: 120,293,850 (GRCm39) K782E probably damaging Het
Ndc80 T C 17: 71,828,063 (GRCm39) D88G probably damaging Het
Nrxn2 A G 19: 6,505,282 (GRCm39) D375G probably damaging Het
Or2y10 T C 11: 49,455,545 (GRCm39) S266P probably damaging Het
Or52e7 A G 7: 104,685,280 (GRCm39) I292V probably benign Het
Padi3 T C 4: 140,525,422 (GRCm39) H187R probably damaging Het
Pcdhgb1 A T 18: 37,814,610 (GRCm39) N367I probably damaging Het
Pdrg1 T C 2: 152,854,310 (GRCm39) I77V probably benign Het
Pfas T C 11: 68,881,895 (GRCm39) E930G probably benign Het
Pik3cb C T 9: 98,943,817 (GRCm39) R662Q probably benign Het
Pla2g4e T G 2: 120,016,863 (GRCm39) H226P possibly damaging Het
Plxnd1 A T 6: 115,971,237 (GRCm39) V177E probably damaging Het
Prmt7 A G 8: 106,976,961 (GRCm39) S558G possibly damaging Het
Pspc1 A C 14: 57,015,246 (GRCm39) probably null Het
Rilp T C 11: 75,403,586 (GRCm39) S343P probably benign Het
Ror1 A G 4: 100,265,107 (GRCm39) M194V probably damaging Het
Rsu1 T C 2: 13,174,815 (GRCm39) Y225C probably damaging Het
Rundc1 A G 11: 101,324,752 (GRCm39) N486S probably damaging Het
Sema6d T A 2: 124,496,151 (GRCm39) I65N probably damaging Het
Slc5a11 A G 7: 122,857,601 (GRCm39) E230G probably benign Het
Spint1 T C 2: 119,076,941 (GRCm39) S342P probably damaging Het
Stard3nl A G 13: 19,551,923 (GRCm39) S214P probably damaging Het
Tcp10a A C 17: 7,604,323 (GRCm39) T271P probably damaging Het
Tie1 A G 4: 118,329,831 (GRCm39) Y1091H probably benign Het
Tlr12 T C 4: 128,511,125 (GRCm39) Y375C probably benign Het
Tmem107 T A 11: 68,962,274 (GRCm39) M77K probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tns3 T C 11: 8,481,747 (GRCm39) K202E probably damaging Het
Tspoap1 C T 11: 87,670,347 (GRCm39) P1634L probably damaging Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Ush2a A G 1: 188,643,844 (GRCm39) N4402S probably benign Het
Vmn2r13 A T 5: 109,304,322 (GRCm39) I703N probably damaging Het
Xrcc4 A G 13: 90,210,126 (GRCm39) probably null Het
Zp3 A T 5: 136,013,089 (GRCm39) K168* probably null Het
Other mutations in Med27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01886:Med27 APN 2 29,303,494 (GRCm39) missense probably damaging 1.00
R0427:Med27 UTSW 2 29,390,283 (GRCm39) missense probably damaging 1.00
R1769:Med27 UTSW 2 29,390,307 (GRCm39) missense probably damaging 0.99
R2126:Med27 UTSW 2 29,414,442 (GRCm39) nonsense probably null
R3196:Med27 UTSW 2 29,236,882 (GRCm39) missense possibly damaging 0.86
R4093:Med27 UTSW 2 29,267,920 (GRCm39) unclassified probably benign
R4498:Med27 UTSW 2 29,361,354 (GRCm39) missense probably damaging 0.99
R4722:Med27 UTSW 2 29,414,447 (GRCm39) missense probably damaging 0.98
R4771:Med27 UTSW 2 29,303,515 (GRCm39) missense probably damaging 1.00
R4828:Med27 UTSW 2 29,267,950 (GRCm39) unclassified probably benign
R5870:Med27 UTSW 2 29,279,823 (GRCm39) critical splice acceptor site probably null
R6061:Med27 UTSW 2 29,399,453 (GRCm39) missense probably damaging 0.99
R6159:Med27 UTSW 2 29,414,376 (GRCm39) splice site probably null
R7028:Med27 UTSW 2 29,399,446 (GRCm39) nonsense probably null
R7319:Med27 UTSW 2 29,303,490 (GRCm39) missense possibly damaging 0.53
R7387:Med27 UTSW 2 29,303,419 (GRCm39) missense possibly damaging 0.96
R7671:Med27 UTSW 2 29,267,950 (GRCm39) missense
R8255:Med27 UTSW 2 29,414,376 (GRCm39) splice site probably null
R8969:Med27 UTSW 2 29,236,875 (GRCm39) missense possibly damaging 0.86
R9026:Med27 UTSW 2 29,399,446 (GRCm39) nonsense probably null
R9194:Med27 UTSW 2 29,361,312 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGCAGCTTTCCTATAGGACC -3'
(R):5'- ATGCCCCATCATGACATGC -3'

Sequencing Primer
(F):5'- CAGCTTTCCTATAGGACCATGGG -3'
(R):5'- TGACATGCAGCTGACAGTTC -3'
Posted On 2015-09-25