Incidental Mutation 'R0511:Med25'
ID 46909
Institutional Source Beutler Lab
Gene Symbol Med25
Ensembl Gene ENSMUSG00000002968
Gene Name mediator complex subunit 25
Synonyms 2610529E18Rik, 2610034E13Rik, ESTM2
MMRRC Submission 038705-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0511 (G1)
Quality Score 202
Status Validated
Chromosome 7
Chromosomal Location 44876765-44892712 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 44885078 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003049] [ENSMUST00000207278] [ENSMUST00000207654] [ENSMUST00000207788] [ENSMUST00000207848] [ENSMUST00000208253] [ENSMUST00000208551] [ENSMUST00000208556]
AlphaFold Q8VCB2
Predicted Effect probably null
Transcript: ENSMUST00000003049
SMART Domains Protein: ENSMUSP00000003049
Gene: ENSMUSG00000002968

VWA 15 178 6.55e0 SMART
low complexity region 193 211 N/A INTRINSIC
Pfam:Med25_SD1 228 383 5.8e-55 PFAM
Pfam:Med25 396 546 3.9e-64 PFAM
low complexity region 577 592 N/A INTRINSIC
low complexity region 596 632 N/A INTRINSIC
Pfam:Med25_NR-box 657 745 5.3e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207206
Predicted Effect probably null
Transcript: ENSMUST00000207278
Predicted Effect probably benign
Transcript: ENSMUST00000207490
Predicted Effect probably null
Transcript: ENSMUST00000207654
Predicted Effect probably benign
Transcript: ENSMUST00000207788
Predicted Effect probably benign
Transcript: ENSMUST00000207848
Predicted Effect probably null
Transcript: ENSMUST00000208253
Predicted Effect probably null
Transcript: ENSMUST00000208551
Predicted Effect probably benign
Transcript: ENSMUST00000208556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208552
Predicted Effect probably benign
Transcript: ENSMUST00000209191
Meta Mutation Damage Score 0.9485 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (116/116)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T C 18: 38,254,071 (GRCm38) probably null Het
A630095E13Rik A T 9: 36,638,577 (GRCm38) probably null Het
Abca13 G T 11: 9,294,559 (GRCm38) V2141L probably benign Het
Adam17 T C 12: 21,340,458 (GRCm38) probably benign Het
Adam3 A T 8: 24,695,315 (GRCm38) C456S probably damaging Het
AI464131 A G 4: 41,498,538 (GRCm38) F364S probably damaging Het
Aldh4a1 G T 4: 139,642,571 (GRCm38) probably benign Het
Anapc4 A G 5: 52,842,017 (GRCm38) probably benign Het
Ank3 A T 10: 69,882,368 (GRCm38) Q483L probably damaging Het
Ankle2 A G 5: 110,242,059 (GRCm38) probably benign Het
Ankrd13b T A 11: 77,473,288 (GRCm38) T150S possibly damaging Het
Apeh A G 9: 108,087,055 (GRCm38) M524T probably benign Het
Arl14epl T A 18: 46,926,417 (GRCm38) probably null Het
Atg2a T C 19: 6,252,539 (GRCm38) F964S possibly damaging Het
Atg2b C T 12: 105,617,153 (GRCm38) V2050M probably damaging Het
Atp2b4 A T 1: 133,732,218 (GRCm38) probably benign Het
Bbof1 T A 12: 84,430,271 (GRCm38) S512T probably benign Het
BC055324 T C 1: 163,971,843 (GRCm38) probably null Het
C130079G13Rik A G 3: 59,936,350 (GRCm38) H155R possibly damaging Het
Camta1 C A 4: 151,075,140 (GRCm38) R1614L probably damaging Het
Car10 T C 11: 93,490,582 (GRCm38) Y100H probably damaging Het
Ccdc81 T A 7: 89,893,296 (GRCm38) E124V probably damaging Het
Cd84 A G 1: 171,872,927 (GRCm38) T204A probably benign Het
Celf2 A G 2: 6,604,176 (GRCm38) S178P probably damaging Het
Chat G A 14: 32,409,019 (GRCm38) T555M probably damaging Het
Chd6 A G 2: 160,992,191 (GRCm38) F917S probably damaging Het
Chrna2 C A 14: 66,149,104 (GRCm38) T233N probably damaging Het
Cnpy2 T C 10: 128,326,185 (GRCm38) V109A probably benign Het
Col4a1 T C 8: 11,208,333 (GRCm38) probably null Het
Csmd1 C T 8: 15,932,529 (GRCm38) V2713M possibly damaging Het
Cuedc1 G A 11: 88,183,405 (GRCm38) R255Q probably damaging Het
Cxcl15 A T 5: 90,798,038 (GRCm38) probably benign Het
Dach1 A T 14: 97,901,329 (GRCm38) H559Q possibly damaging Het
Dennd4c C T 4: 86,826,022 (GRCm38) T1367M probably damaging Het
Depdc5 T A 5: 32,945,028 (GRCm38) Y365* probably null Het
Dicer1 T C 12: 104,702,841 (GRCm38) Y1194C possibly damaging Het
Dmxl1 C G 18: 49,891,467 (GRCm38) S1736* probably null Het
Dnah7a C T 1: 53,497,126 (GRCm38) R2586K probably benign Het
Dnajb8 T C 6: 88,222,485 (GRCm38) M1T probably null Het
Dync2h1 G A 9: 7,122,692 (GRCm38) P2088L probably benign Het
Eftud2 T G 11: 102,844,222 (GRCm38) H617P probably damaging Het
Ephb1 A G 9: 101,995,980 (GRCm38) probably benign Het
Fam184a G T 10: 53,698,879 (GRCm38) H155Q probably benign Het
Ganc G T 2: 120,448,401 (GRCm38) E700* probably null Het
Gm10912 A G 2: 104,066,945 (GRCm38) probably benign Het
Gm9047 G T 6: 29,478,170 (GRCm38) probably benign Het
Haus5 A T 7: 30,659,067 (GRCm38) I294N probably damaging Het
Hmgcr G T 13: 96,660,143 (GRCm38) probably null Het
Hr T A 14: 70,561,912 (GRCm38) C641* probably null Het
Itga10 A G 3: 96,658,174 (GRCm38) N1038S probably damaging Het
Itgb1bp1 T G 12: 21,271,435 (GRCm38) Y172S probably damaging Het
Kprp T C 3: 92,824,723 (GRCm38) N340S probably damaging Het
Kremen1 A G 11: 5,215,447 (GRCm38) I41T probably damaging Het
Krt6b A G 15: 101,677,607 (GRCm38) probably benign Het
Krt81 C A 15: 101,463,627 (GRCm38) R24L possibly damaging Het
Ldhd A G 8: 111,629,677 (GRCm38) Y86H probably benign Het
Lilra6 A T 7: 3,912,785 (GRCm38) I76N possibly damaging Het
Mak T C 13: 41,046,267 (GRCm38) T299A probably benign Het
Mpg A T 11: 32,230,039 (GRCm38) N189I probably damaging Het
Mroh8 A G 2: 157,229,918 (GRCm38) Y556H probably damaging Het
Myh8 T A 11: 67,284,507 (GRCm38) S294T probably benign Het
Myom1 T A 17: 71,084,317 (GRCm38) D842E probably benign Het
Nat2 C T 8: 67,501,330 (GRCm38) Q31* probably null Het
Nf1 T A 11: 79,438,769 (GRCm38) M653K probably benign Het
Nhs C A X: 161,837,359 (GRCm38) R1467I probably damaging Het
Npr2 A G 4: 43,632,801 (GRCm38) E206G probably benign Het
Nsd3 G A 8: 25,678,716 (GRCm38) G629D possibly damaging Het
Nwd1 G A 8: 72,682,005 (GRCm38) C831Y probably damaging Het
Olfr1094 A G 2: 86,829,606 (GRCm38) I285V probably benign Het
Olfr584 T C 7: 103,085,851 (GRCm38) I111T probably damaging Het
P2ry14 A G 3: 59,116,028 (GRCm38) S4P possibly damaging Het
Parp4 A G 14: 56,635,715 (GRCm38) probably benign Het
Pclo A G 5: 14,678,285 (GRCm38) probably benign Het
Pclo T C 5: 14,679,398 (GRCm38) probably benign Het
Pcnt A T 10: 76,404,595 (GRCm38) S1202T possibly damaging Het
Pfkfb4 A G 9: 109,027,757 (GRCm38) Y412C probably damaging Het
Pgm1 T A 5: 64,110,555 (GRCm38) V449D probably damaging Het
Poldip3 T A 15: 83,138,235 (GRCm38) D116V probably damaging Het
Pom121 G T 5: 135,381,832 (GRCm38) Q824K unknown Het
Prkdc G T 16: 15,831,282 (GRCm38) G3707* probably null Het
Prr14l T C 5: 32,844,216 (GRCm38) probably benign Het
Ptbp2 T G 3: 119,720,964 (GRCm38) I405L probably benign Het
Rad21l A T 2: 151,649,069 (GRCm38) probably benign Het
Rbm6 G A 9: 107,847,289 (GRCm38) Q488* probably null Het
Rdh1 T A 10: 127,764,783 (GRCm38) M225K probably benign Het
Recql5 T C 11: 115,928,383 (GRCm38) D119G probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Robo1 T C 16: 73,013,125 (GRCm38) probably null Het
Samd12 G A 15: 53,860,171 (GRCm38) T42I probably benign Het
Scn10a A T 9: 119,613,700 (GRCm38) M1494K probably damaging Het
Sec31a G A 5: 100,375,240 (GRCm38) P864L probably benign Het
Senp2 T C 16: 22,036,570 (GRCm38) V344A probably benign Het
Serpina5 G A 12: 104,103,362 (GRCm38) D278N probably benign Het
Sh3tc1 A T 5: 35,703,462 (GRCm38) V1017D probably damaging Het
Sin3a T A 9: 57,096,895 (GRCm38) Y310* probably null Het
Slc25a32 T C 15: 39,097,545 (GRCm38) T248A probably benign Het
Slc35e1 T C 8: 72,492,571 (GRCm38) probably benign Het
Slc4a10 G A 2: 62,286,862 (GRCm38) V722M probably damaging Het
Slco1a4 A G 6: 141,830,860 (GRCm38) probably benign Het
Smg6 T A 11: 74,929,058 (GRCm38) Y52N probably damaging Het
Sncb T G 13: 54,765,587 (GRCm38) T33P probably damaging Het
Spef2 A G 15: 9,583,984 (GRCm38) probably null Het
Sugp1 A G 8: 70,059,363 (GRCm38) E203G probably damaging Het
Suv39h2 A T 2: 3,472,579 (GRCm38) C105S probably damaging Het
Tlr1 A T 5: 64,926,620 (GRCm38) F205I probably damaging Het
Tnip1 A T 11: 54,917,873 (GRCm38) M496K probably damaging Het
Tnxb G A 17: 34,718,245 (GRCm38) E2889K probably damaging Het
Trim30b T A 7: 104,365,803 (GRCm38) H126L possibly damaging Het
Trpm7 A T 2: 126,826,718 (GRCm38) Y759* probably null Het
Ttc17 A G 2: 94,323,120 (GRCm38) I1000T possibly damaging Het
Ttc27 A T 17: 74,718,715 (GRCm38) N61I probably benign Het
Uba6 T C 5: 86,112,750 (GRCm38) Y990C probably damaging Het
Vav3 A G 3: 109,664,440 (GRCm38) probably benign Het
Vmn2r55 C T 7: 12,671,018 (GRCm38) A153T possibly damaging Het
Wars2 A G 3: 99,216,549 (GRCm38) D242G probably damaging Het
Xylt2 G A 11: 94,669,936 (GRCm38) Q259* probably null Het
Zfp27 G A 7: 29,894,522 (GRCm38) P673S probably damaging Het
Zgrf1 T C 3: 127,584,660 (GRCm38) I1023T possibly damaging Het
Other mutations in Med25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01452:Med25 APN 7 44,882,831 (GRCm38) missense possibly damaging 0.86
IGL02963:Med25 APN 7 44,892,256 (GRCm38) missense probably damaging 1.00
R0102:Med25 UTSW 7 44,885,480 (GRCm38) missense possibly damaging 0.92
R0167:Med25 UTSW 7 44,883,097 (GRCm38) critical splice donor site probably null
R0302:Med25 UTSW 7 44,880,558 (GRCm38) unclassified probably benign
R0497:Med25 UTSW 7 44,892,100 (GRCm38) missense probably damaging 1.00
R1054:Med25 UTSW 7 44,880,380 (GRCm38) missense probably benign 0.03
R1914:Med25 UTSW 7 44,884,622 (GRCm38) missense probably benign 0.01
R2305:Med25 UTSW 7 44,885,890 (GRCm38) missense possibly damaging 0.91
R2360:Med25 UTSW 7 44,885,142 (GRCm38) missense probably damaging 1.00
R3436:Med25 UTSW 7 44,885,890 (GRCm38) missense possibly damaging 0.91
R4736:Med25 UTSW 7 44,892,288 (GRCm38) missense probably damaging 1.00
R4807:Med25 UTSW 7 44,884,619 (GRCm38) missense probably benign 0.23
R4945:Med25 UTSW 7 44,883,102 (GRCm38) missense possibly damaging 0.93
R5494:Med25 UTSW 7 44,885,801 (GRCm38) missense probably damaging 1.00
R7037:Med25 UTSW 7 44,882,782 (GRCm38) missense probably damaging 1.00
R7078:Med25 UTSW 7 44,884,901 (GRCm38) missense probably damaging 1.00
R7411:Med25 UTSW 7 44,878,243 (GRCm38) missense probably damaging 0.98
R7542:Med25 UTSW 7 44,891,791 (GRCm38) missense probably damaging 0.96
R7883:Med25 UTSW 7 44,891,808 (GRCm38) missense possibly damaging 0.77
R9541:Med25 UTSW 7 44,891,843 (GRCm38) missense possibly damaging 0.77
R9696:Med25 UTSW 7 44,880,100 (GRCm38) missense probably benign 0.33
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-06-11