Incidental Mutation 'R7319:Med27'
ID 568029
Institutional Source Beutler Lab
Gene Symbol Med27
Ensembl Gene ENSMUSG00000026799
Gene Name mediator complex subunit 27
Synonyms Crsp8, 1500015J03Rik, 2310042P07Rik, D2Ertd434e
MMRRC Submission 045415-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R7319 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 29236831-29414805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29303490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 147 (R147G)
Ref Sequence ENSEMBL: ENSMUSP00000028139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028139] [ENSMUST00000113830] [ENSMUST00000159034] [ENSMUST00000159280] [ENSMUST00000162597] [ENSMUST00000162623]
AlphaFold Q9DB40
Predicted Effect possibly damaging
Transcript: ENSMUST00000028139
AA Change: R147G

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028139
Gene: ENSMUSG00000026799
AA Change: R147G

DomainStartEndE-ValueType
Pfam:Med27 228 310 7.2e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113830
AA Change: R147G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000159034
AA Change: R8G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000159280
AA Change: R8G

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125390
Gene: ENSMUSG00000026799
AA Change: R8G

DomainStartEndE-ValueType
Pfam:Med27 85 171 1.4e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162597
AA Change: R8G

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000162603
AA Change: R91G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000162623
AA Change: R8G

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (79/82)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A T 14: 70,393,635 (GRCm39) I287N probably benign Het
Aco2 G T 15: 81,787,820 (GRCm39) E223D probably damaging Het
Acsf3 T A 8: 123,539,770 (GRCm39) I466N probably damaging Het
Albfm1 G A 5: 90,719,625 (GRCm39) probably null Het
Aox3 T A 1: 58,191,761 (GRCm39) F438I probably benign Het
Arhgap33 T C 7: 30,225,794 (GRCm39) T591A probably benign Het
Ash1l C T 3: 88,888,694 (GRCm39) A191V probably benign Het
Btg2 T C 1: 134,006,779 (GRCm39) K5E probably benign Het
C1galt1 T A 6: 7,871,150 (GRCm39) Y329N probably damaging Het
Cacna1h A G 17: 25,608,435 (GRCm39) I824T possibly damaging Het
Carmil3 A G 14: 55,731,817 (GRCm39) I182V probably benign Het
Ccdc150 T A 1: 54,302,496 (GRCm39) probably null Het
Chek1 T A 9: 36,633,939 (GRCm39) R129W probably damaging Het
Chrna6 A G 8: 27,896,815 (GRCm39) M354T possibly damaging Het
Cpq A G 15: 33,250,185 (GRCm39) T181A probably benign Het
Csmd2 A T 4: 128,287,472 (GRCm39) Y1069F Het
Defb28 T A 2: 152,361,974 (GRCm39) C45S possibly damaging Het
Dnah1 A G 14: 31,018,551 (GRCm39) Y1360H probably benign Het
Dnah7c T C 1: 46,823,608 (GRCm39) V3749A possibly damaging Het
Dnah7c T A 1: 46,819,935 (GRCm39) D3728E probably benign Het
Dym G A 18: 75,196,245 (GRCm39) probably null Het
Dync2i2 G A 2: 29,928,341 (GRCm39) P95L probably benign Het
Dzip3 A G 16: 48,747,903 (GRCm39) probably null Het
Eef1akmt4 A G 16: 20,436,666 (GRCm39) K163E probably benign Het
Fbrs A G 7: 127,081,985 (GRCm39) T242A possibly damaging Het
Fgfr3 G A 5: 33,885,146 (GRCm39) V87M possibly damaging Het
Fst A T 13: 114,595,068 (GRCm39) C19S probably benign Het
Gm7276 G A 18: 77,273,216 (GRCm39) R173W unknown Het
Gm9195 G A 14: 72,697,929 (GRCm39) H1284Y probably benign Het
Herc6 C A 6: 57,581,074 (GRCm39) T258K probably damaging Het
Hip1r A G 5: 124,137,174 (GRCm39) Y678C probably damaging Het
Ifne A T 4: 88,798,243 (GRCm39) N58K probably damaging Het
Ighv1-26 A T 12: 114,752,163 (GRCm39) H60Q possibly damaging Het
Ints1 A G 5: 139,746,520 (GRCm39) F1276L probably damaging Het
Itprid2 A T 2: 79,466,416 (GRCm39) D82V probably damaging Het
Kcnc4 T A 3: 107,366,100 (GRCm39) E36V probably benign Het
Kcnq2 C T 2: 180,750,895 (GRCm39) G315S probably damaging Het
Kdm4c G A 4: 74,255,200 (GRCm39) V585M probably damaging Het
Klhl26 C T 8: 70,905,592 (GRCm39) R106H probably damaging Het
Kmo T C 1: 175,481,221 (GRCm39) F313S probably damaging Het
Lmtk3 T A 7: 45,443,740 (GRCm39) S808T unknown Het
Lrch3 A G 16: 32,815,363 (GRCm39) T585A probably benign Het
Lrch4 T A 5: 137,637,977 (GRCm39) H86Q Het
Map3k20 A G 2: 72,195,062 (GRCm39) D113G probably damaging Het
Mbd3l1 T C 9: 18,396,417 (GRCm39) S181P probably benign Het
Mccc2 T C 13: 100,104,241 (GRCm39) T303A probably benign Het
Mrps5 T A 2: 127,437,762 (GRCm39) S196R possibly damaging Het
Muc21 GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG GGGGTGGG 17: 35,932,935 (GRCm39) probably benign Het
Myo16 A T 8: 10,526,185 (GRCm39) probably null Het
Nudt2 A T 4: 41,477,575 (GRCm39) M19L probably benign Het
Pcdha11 C T 18: 37,146,245 (GRCm39) P779S probably benign Het
Phykpl A G 11: 51,489,530 (GRCm39) T379A probably benign Het
Plekha8 A C 6: 54,601,206 (GRCm39) M270L probably benign Het
Plekhg5 A G 4: 152,192,885 (GRCm39) H593R probably benign Het
Polr2a T C 11: 69,637,196 (GRCm39) N293S possibly damaging Het
Pramel32 G A 4: 88,548,184 (GRCm39) P74S probably benign Het
Prex2 T A 1: 11,232,532 (GRCm39) N866K probably benign Het
Psme4 A T 11: 30,757,790 (GRCm39) I308L probably benign Het
Ptprb T C 10: 116,177,309 (GRCm39) V1003A probably benign Het
Rbbp8 T A 18: 11,865,269 (GRCm39) D719E probably damaging Het
Rnaset2b A T 17: 7,259,166 (GRCm39) D144V probably benign Het
Senp6 T G 9: 80,033,481 (GRCm39) D662E probably damaging Het
Serpinb3c T C 1: 107,200,817 (GRCm39) N200S possibly damaging Het
Serpinb9g C G 13: 33,672,543 (GRCm39) Y113* probably null Het
Sgf29 T C 7: 126,270,821 (GRCm39) I134T probably benign Het
Sh3bp4 T G 1: 89,080,824 (GRCm39) probably null Het
Stab1 G A 14: 30,862,783 (GRCm39) L2243F probably damaging Het
Sympk T C 7: 18,769,770 (GRCm39) V149A probably benign Het
Syt3 C T 7: 44,041,953 (GRCm39) Q271* probably null Het
Tas2r109 A G 6: 132,957,663 (GRCm39) I89T probably benign Het
Tgif1 A G 17: 71,151,847 (GRCm39) S255P probably damaging Het
Tm9sf1 G A 14: 55,875,432 (GRCm39) probably benign Het
Tnf A G 17: 35,419,347 (GRCm39) F161S possibly damaging Het
Topaz1 T A 9: 122,579,428 (GRCm39) S779R possibly damaging Het
Topors A G 4: 40,260,540 (GRCm39) S915P unknown Het
Tpm4 C T 8: 72,900,321 (GRCm39) L161F probably damaging Het
Trim38 C T 13: 23,975,384 (GRCm39) T441I probably damaging Het
Trpv1 A G 11: 73,141,620 (GRCm39) M548V probably benign Het
Vmn2r68 T A 7: 84,883,042 (GRCm39) T237S probably benign Het
Zc3hav1 A G 6: 38,309,209 (GRCm39) S538P probably benign Het
Zfp541 C T 7: 15,813,294 (GRCm39) T649I probably benign 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
R4599:Med27 UTSW 2 29,414,470 (GRCm39) missense probably damaging 1.00
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
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'- AATTCCTTGCAGCAGAATGC -3'
(R):5'- CACTTTCTAGGCTTGATGGAATTC -3'

Sequencing Primer
(F):5'- GCTAGCAGCAGTACTTGAAATAAC -3'
(R):5'- GGCTTGATGGAATTCTTTTAAAAAGG -3'
Posted On 2019-06-26