Incidental Mutation 'R2305:Med25'
ID 244559
Institutional Source Beutler Lab
Gene Symbol Med25
Ensembl Gene ENSMUSG00000002968
Gene Name mediator complex subunit 25
Synonyms ESTM2, 2610034E13Rik, 2610529E18Rik
MMRRC Submission 040304-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2305 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44526189-44542136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44535314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 37 (R37L)
Ref Sequence ENSEMBL: ENSMUSP00000146595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003049] [ENSMUST00000207278] [ENSMUST00000207654] [ENSMUST00000208253] [ENSMUST00000208551] [ENSMUST00000208556] [ENSMUST00000207848] [ENSMUST00000207788]
AlphaFold Q8VCB2
Predicted Effect possibly damaging
Transcript: ENSMUST00000003049
AA Change: R140L

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000003049
Gene: ENSMUSG00000002968
AA Change: R140L

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000207278
AA Change: R37L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect unknown
Transcript: ENSMUST00000207490
AA Change: R127L
Predicted Effect possibly damaging
Transcript: ENSMUST00000207654
AA Change: R217L

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208253
AA Change: R140L

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208551
AA Change: R140L

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000208556
Predicted Effect probably benign
Transcript: ENSMUST00000207848
Predicted Effect probably benign
Transcript: ENSMUST00000207788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208552
Predicted Effect probably benign
Transcript: ENSMUST00000209191
Meta Mutation Damage Score 0.4532 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 100% (32/32)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c C A 2: 58,171,711 (GRCm39) D295Y probably damaging Het
Adamts7 A G 9: 90,062,764 (GRCm39) D406G probably benign Het
Ankhd1 T C 18: 36,775,979 (GRCm39) S1443P possibly damaging Het
Casp8ap2 A T 4: 32,646,411 (GRCm39) K1828I probably damaging Het
Cep135 T C 5: 76,743,236 (GRCm39) probably benign Het
Cyp3a57 A G 5: 145,318,090 (GRCm39) D357G probably damaging Het
Defb21 T A 2: 152,416,791 (GRCm39) L89Q possibly damaging Het
Dnah5 A T 15: 28,387,913 (GRCm39) E3124V probably benign Het
Efcab7 A G 4: 99,719,718 (GRCm39) T67A possibly damaging Het
Exo1 C T 1: 175,716,327 (GRCm39) P148L probably damaging Het
Hps4 A G 5: 112,494,527 (GRCm39) I37V probably damaging Het
Krt9 T A 11: 100,083,942 (GRCm39) M30L unknown Het
Or10ak12 T G 4: 118,666,058 (GRCm39) Q318H probably benign Het
Or5an10 T C 19: 12,276,451 (GRCm39) E15G probably benign Het
Phf3 G A 1: 30,844,556 (GRCm39) Q1468* probably null Het
Phkb A G 8: 86,770,431 (GRCm39) K900R possibly damaging Het
Pirb G A 7: 3,715,990 (GRCm39) H755Y probably benign Het
Polq A T 16: 36,882,699 (GRCm39) N1342I probably damaging Het
Polr2b T A 5: 77,468,284 (GRCm39) probably benign Het
Pus1 C A 5: 110,922,826 (GRCm39) M232I probably benign Het
Serpina3a C A 12: 104,082,787 (GRCm39) Q187K probably benign Het
Slit1 G A 19: 41,599,455 (GRCm39) P1032L probably benign Het
Syne1 C T 10: 4,997,573 (GRCm39) E465K probably damaging Het
Tektl1 T C 10: 78,584,336 (GRCm39) T360A probably damaging Het
Tlk2 T G 11: 105,132,417 (GRCm39) I217R possibly damaging Het
Tlr4 A G 4: 66,758,338 (GRCm39) D377G probably damaging Het
Tmtc1 T C 6: 148,146,195 (GRCm39) D866G probably damaging Het
Tubd1 T A 11: 86,446,017 (GRCm39) I219N probably benign Het
Ugt3a1 C A 15: 9,351,203 (GRCm39) P71T probably benign Het
Vmn1r64 A G 7: 5,887,535 (GRCm39) S3P probably benign Het
Other mutations in Med25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01452:Med25 APN 7 44,532,255 (GRCm39) missense possibly damaging 0.86
IGL02963:Med25 APN 7 44,541,680 (GRCm39) missense probably damaging 1.00
R0102:Med25 UTSW 7 44,534,904 (GRCm39) missense possibly damaging 0.92
R0167:Med25 UTSW 7 44,532,521 (GRCm39) critical splice donor site probably null
R0302:Med25 UTSW 7 44,529,982 (GRCm39) unclassified probably benign
R0497:Med25 UTSW 7 44,541,524 (GRCm39) missense probably damaging 1.00
R0511:Med25 UTSW 7 44,534,502 (GRCm39) critical splice donor site probably null
R1054:Med25 UTSW 7 44,529,804 (GRCm39) missense probably benign 0.03
R1914:Med25 UTSW 7 44,534,046 (GRCm39) missense probably benign 0.01
R2360:Med25 UTSW 7 44,534,566 (GRCm39) missense probably damaging 1.00
R3436:Med25 UTSW 7 44,535,314 (GRCm39) missense possibly damaging 0.91
R4736:Med25 UTSW 7 44,541,712 (GRCm39) missense probably damaging 1.00
R4807:Med25 UTSW 7 44,534,043 (GRCm39) missense probably benign 0.23
R4945:Med25 UTSW 7 44,532,526 (GRCm39) missense possibly damaging 0.93
R5494:Med25 UTSW 7 44,535,225 (GRCm39) missense probably damaging 1.00
R7037:Med25 UTSW 7 44,532,206 (GRCm39) missense probably damaging 1.00
R7078:Med25 UTSW 7 44,534,325 (GRCm39) missense probably damaging 1.00
R7411:Med25 UTSW 7 44,527,667 (GRCm39) missense probably damaging 0.98
R7542:Med25 UTSW 7 44,541,215 (GRCm39) missense probably damaging 0.96
R7883:Med25 UTSW 7 44,541,232 (GRCm39) missense possibly damaging 0.77
R9541:Med25 UTSW 7 44,541,267 (GRCm39) missense possibly damaging 0.77
R9696:Med25 UTSW 7 44,529,524 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- TTCCTAGGATCCAGGTGTGG -3'
(R):5'- GAAATCCTCGATCCTCACCCTG -3'

Sequencing Primer
(F):5'- ATCCAGGTGTGGGCTTCC -3'
(R):5'- TCGATCCTCACCCTGGATGG -3'
Posted On 2014-10-30