Incidental Mutation 'R4736:Med25'
ID 359249
Institutional Source Beutler Lab
Gene Symbol Med25
Ensembl Gene ENSMUSG00000002968
Gene Name mediator complex subunit 25
Synonyms ESTM2, 2610034E13Rik, 2610529E18Rik
MMRRC Submission 041963-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4736 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 44526189-44542136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44541712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 26 (A26V)
Ref Sequence ENSEMBL: ENSMUSP00000146498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003049] [ENSMUST00000071207] [ENSMUST00000207069] [ENSMUST00000207154] [ENSMUST00000207278] [ENSMUST00000208556] [ENSMUST00000207654] [ENSMUST00000207788] [ENSMUST00000208253] [ENSMUST00000208551] [ENSMUST00000207939] [ENSMUST00000208179] [ENSMUST00000207485] [ENSMUST00000209132] [ENSMUST00000208600] [ENSMUST00000209039]
AlphaFold Q8VCB2
Predicted Effect probably damaging
Transcript: ENSMUST00000003049
AA Change: A26V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003049
Gene: ENSMUSG00000002968
AA Change: A26V

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 probably benign
Transcript: ENSMUST00000071207
SMART Domains Protein: ENSMUSP00000071194
Gene: ENSMUSG00000011658

DomainStartEndE-ValueType
low complexity region 234 259 N/A INTRINSIC
low complexity region 292 310 N/A INTRINSIC
low complexity region 382 391 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207069
Predicted Effect probably benign
Transcript: ENSMUST00000207154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207196
Predicted Effect probably benign
Transcript: ENSMUST00000207278
Predicted Effect probably benign
Transcript: ENSMUST00000208556
AA Change: A26V

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207654
AA Change: A26V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000207788
AA Change: A26V

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably damaging
Transcript: ENSMUST00000208253
AA Change: A26V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000208551
AA Change: A26V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000207939
Predicted Effect probably benign
Transcript: ENSMUST00000208179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208484
Predicted Effect probably benign
Transcript: ENSMUST00000207490
Predicted Effect probably benign
Transcript: ENSMUST00000207485
Predicted Effect probably benign
Transcript: ENSMUST00000209132
Predicted Effect probably benign
Transcript: ENSMUST00000208600
Predicted Effect probably benign
Transcript: ENSMUST00000208908
Predicted Effect probably benign
Transcript: ENSMUST00000209039
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,246 (GRCm39) I1145T probably damaging Het
Aadat T C 8: 60,993,140 (GRCm39) V360A probably benign Het
Abhd16a A T 17: 35,320,859 (GRCm39) T436S probably benign Het
Acbd5 G T 2: 22,989,596 (GRCm39) L406F probably damaging Het
Agrn G A 4: 156,256,858 (GRCm39) T1142M probably benign Het
Aig1 C A 10: 13,677,674 (GRCm39) W106L probably damaging Het
Akr1d1 T C 6: 37,534,535 (GRCm39) probably null Het
Ap1g1 G A 8: 110,581,714 (GRCm39) D658N possibly damaging Het
Arhgap45 A G 10: 79,862,006 (GRCm39) Y520C probably damaging Het
Arhgap5 A T 12: 52,565,860 (GRCm39) M944L probably benign Het
Asic5 C T 3: 81,907,116 (GRCm39) T47I possibly damaging Het
Cabp5 A G 7: 13,134,664 (GRCm39) probably null Het
Ccr6 A T 17: 8,474,896 (GRCm39) R34* probably null Het
Cdin1 A G 2: 115,412,369 (GRCm39) I2V probably benign Het
Clec4a2 T C 6: 123,117,622 (GRCm39) I180T probably damaging Het
Cmtr1 A G 17: 29,919,216 (GRCm39) E704G possibly damaging Het
Cyth3 G A 5: 143,670,234 (GRCm39) probably null Het
Dbt T C 3: 116,332,781 (GRCm39) I200T probably damaging Het
Dennd6b T C 15: 89,069,795 (GRCm39) H468R probably benign Het
Depdc5 A G 5: 33,132,666 (GRCm39) M1237V probably benign Het
Dpp6 A G 5: 27,917,657 (GRCm39) Y616C probably damaging Het
Dync2h1 A T 9: 7,006,862 (GRCm39) S3710T probably benign Het
Eif4g3 T A 4: 137,925,408 (GRCm39) S1584T probably benign Het
Emc3 G A 6: 113,508,310 (GRCm39) T45I possibly damaging Het
Esf1 T A 2: 139,966,891 (GRCm39) D685V probably damaging Het
Ezr A G 17: 7,008,975 (GRCm39) S366P probably benign Het
Gbe1 C T 16: 70,292,141 (GRCm39) A491V probably damaging Het
Haus6 A G 4: 86,518,986 (GRCm39) probably null Het
Heca G A 10: 17,790,935 (GRCm39) Q12* probably null Het
Hpdl T C 4: 116,678,221 (GRCm39) N80S probably damaging Het
Hydin A T 8: 111,249,840 (GRCm39) Q2261L probably benign Het
Itgae G T 11: 73,005,706 (GRCm39) R290L possibly damaging Het
Kcna10 C A 3: 107,102,808 (GRCm39) L480I probably benign Het
Kif27 T C 13: 58,476,785 (GRCm39) T622A probably benign Het
Lama2 T C 10: 27,080,925 (GRCm39) N966S probably damaging Het
Mdfic A G 6: 15,741,019 (GRCm39) K38E possibly damaging Het
Mrpl19 A T 6: 81,941,329 (GRCm39) S77R probably damaging Het
Mtcl2 T A 2: 156,862,474 (GRCm39) D1485V probably damaging Het
Mybpc2 T C 7: 44,161,971 (GRCm39) D493G probably damaging Het
Myh4 A G 11: 67,131,746 (GRCm39) T69A probably benign Het
Myo16 G T 8: 10,423,527 (GRCm39) G288W probably damaging Het
Myo9b T C 8: 71,809,236 (GRCm39) L1815P probably damaging Het
Myom2 T A 8: 15,131,271 (GRCm39) L323Q probably damaging Het
Naip1 T C 13: 100,581,034 (GRCm39) D71G possibly damaging Het
Nktr T A 9: 121,578,805 (GRCm39) probably benign Het
Nol10 A G 12: 17,405,288 (GRCm39) K88E probably damaging Het
Nol4 T C 18: 22,852,050 (GRCm39) D505G probably damaging Het
Nynrin T A 14: 56,101,454 (GRCm39) N374K probably damaging Het
Obscn A T 11: 58,954,362 (GRCm39) L3740Q probably damaging Het
Or5g23 T C 2: 85,438,327 (GRCm39) H309R probably benign Het
Otub2 T A 12: 103,359,103 (GRCm39) L64Q probably benign Het
Pgm5 G A 19: 24,812,169 (GRCm39) A121V probably damaging Het
Pi4ka A T 16: 17,195,039 (GRCm39) Y120N probably benign Het
Rpl36al G A 12: 69,229,732 (GRCm39) A60V possibly damaging Het
Rspo4 T C 2: 151,685,054 (GRCm39) Y21H probably benign Het
Scube2 A G 7: 109,430,412 (GRCm39) V455A probably benign Het
Serpina1f T C 12: 103,659,805 (GRCm39) D159G probably damaging Het
Sf1 A G 19: 6,415,694 (GRCm39) D11G probably damaging Het
Siglecg T C 7: 43,067,332 (GRCm39) F633S probably benign Het
Skic2 A G 17: 35,067,173 (GRCm39) S89P possibly damaging Het
Slc22a13 T C 9: 119,022,698 (GRCm39) E501G probably damaging Het
Slc44a3 A G 3: 121,303,855 (GRCm39) S294P probably damaging Het
Smad3 T G 9: 63,664,842 (GRCm39) K40Q probably damaging Het
Stt3a T A 9: 36,661,008 (GRCm39) M268L probably benign Het
Taf4 A T 2: 179,566,287 (GRCm39) V817E probably damaging Het
Tgfbr1 A G 4: 47,383,835 (GRCm39) T58A probably benign Het
Trpc6 T C 9: 8,609,871 (GRCm39) V113A probably damaging Het
Ttll13 T A 7: 79,898,024 (GRCm39) probably null Het
Uba7 T C 9: 107,857,364 (GRCm39) L742P probably benign Het
Ulk2 A G 11: 61,724,261 (GRCm39) L174P probably damaging Het
Unc5c A T 3: 141,522,692 (GRCm39) Y706F probably benign Het
Unc80 A T 1: 66,688,831 (GRCm39) probably null Het
Usp34 T A 11: 23,343,749 (GRCm39) probably null Het
Vmn1r71 A T 7: 10,481,791 (GRCm39) V233D possibly damaging Het
Xpo6 T C 7: 125,739,755 (GRCm39) K439R probably benign Het
Xrn1 G T 9: 95,915,689 (GRCm39) G1271C probably damaging Het
Yes1 A T 5: 32,818,121 (GRCm39) E386V probably damaging Het
Zfp759 C A 13: 67,287,408 (GRCm39) H320N probably damaging Het
Zfp990 A T 4: 145,263,512 (GRCm39) H170L possibly damaging 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
R2305:Med25 UTSW 7 44,535,314 (GRCm39) missense possibly damaging 0.91
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
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'- TTTCCTCCCTCAGACACAGG -3'
(R):5'- ACATGGCCGTATCAGCATC -3'

Sequencing Primer
(F):5'- CAAAGTCCGTCTCTGCAGG -3'
(R):5'- TGGCCGTATCAGCATCAGCAG -3'
Posted On 2015-11-11