Incidental Mutation 'IGL02963:Med25'
ID 365423
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med25
Ensembl Gene ENSMUSG00000002968
Gene Name mediator complex subunit 25
Synonyms ESTM2, 2610034E13Rik, 2610529E18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02963
Quality Score
Status
Chromosome 7
Chromosomal Location 44526189-44542136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44541680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 37 (K37E)
Ref Sequence ENSEMBL: ENSMUSP00000146498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003049] [ENSMUST00000071207] [ENSMUST00000207069] [ENSMUST00000207154] [ENSMUST00000207278] [ENSMUST00000207654] [ENSMUST00000207788] [ENSMUST00000208556] [ENSMUST00000208253] [ENSMUST00000208551] [ENSMUST00000208179] [ENSMUST00000207485] [ENSMUST00000207939] [ENSMUST00000209132] [ENSMUST00000209039] [ENSMUST00000208600]
AlphaFold Q8VCB2
Predicted Effect probably damaging
Transcript: ENSMUST00000003049
AA Change: K37E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003049
Gene: ENSMUSG00000002968
AA Change: K37E

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 possibly damaging
Transcript: ENSMUST00000207654
AA Change: K37E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207788
AA Change: K37E

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000208556
AA Change: K37E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000208253
AA Change: K37E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000208551
AA Change: K37E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000208179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208484
Predicted Effect probably benign
Transcript: ENSMUST00000207485
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207480
Predicted Effect probably benign
Transcript: ENSMUST00000207490
Predicted Effect probably benign
Transcript: ENSMUST00000207939
Predicted Effect probably benign
Transcript: ENSMUST00000209132
Predicted Effect probably benign
Transcript: ENSMUST00000209039
Predicted Effect probably benign
Transcript: ENSMUST00000208600
Predicted Effect probably benign
Transcript: ENSMUST00000208908
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,603,503 (GRCm39) L565Q probably damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
Arhgap44 A T 11: 64,922,489 (GRCm39) I348N probably damaging Het
Bahcc1 T C 11: 120,165,758 (GRCm39) S1005P possibly damaging Het
Ccn1 A G 3: 145,353,630 (GRCm39) Y311H probably damaging Het
Cdh20 T A 1: 104,861,823 (GRCm39) M1K probably null Het
Cfhr4 G A 1: 139,659,334 (GRCm39) Q732* probably null Het
Cpsf3 T C 12: 21,352,423 (GRCm39) S387P probably damaging Het
Cyp2j6 T C 4: 96,406,421 (GRCm39) E450G probably damaging Het
Dusp13b T C 14: 21,783,875 (GRCm39) T147A possibly damaging Het
Eif3c T C 7: 126,155,992 (GRCm39) T493A probably benign Het
Ell2 T C 13: 75,917,762 (GRCm39) V564A possibly damaging Het
Gtf2ird1 T G 5: 134,418,541 (GRCm39) E478D probably benign Het
Gys2 A T 6: 142,395,154 (GRCm39) probably null Het
H2-T3 T C 17: 36,500,526 (GRCm39) T104A probably damaging Het
Herc1 T C 9: 66,296,105 (GRCm39) S567P probably damaging Het
Kcnq3 A T 15: 66,157,675 (GRCm39) probably benign Het
Kdm7a T C 6: 39,120,164 (GRCm39) H935R probably damaging Het
Lcat A T 8: 106,666,588 (GRCm39) F311L probably damaging Het
Manf A G 9: 106,768,338 (GRCm39) S49P possibly damaging Het
Ms4a4b T A 19: 11,432,062 (GRCm39) I61K probably damaging Het
Muc5b T C 7: 141,418,001 (GRCm39) I3649T probably damaging Het
Myo18a T G 11: 77,732,844 (GRCm39) probably benign Het
Ncoa4 T C 14: 31,898,466 (GRCm39) C429R probably damaging Het
Or14j2 A G 17: 37,885,745 (GRCm39) S190P probably benign Het
Pigk G T 3: 152,472,098 (GRCm39) E337* probably null Het
Pigz A T 16: 31,763,353 (GRCm39) Y137F probably damaging Het
Ppp1r12b A G 1: 134,814,286 (GRCm39) L339P probably damaging Het
Rasa2 C A 9: 96,452,838 (GRCm39) L349F probably damaging Het
Reep4 A G 14: 70,785,410 (GRCm39) S186G possibly damaging Het
Rfx7 A G 9: 72,524,898 (GRCm39) K696R probably benign Het
Rnf220 A G 4: 117,347,389 (GRCm39) F8L probably damaging Het
Rprm T C 2: 53,975,226 (GRCm39) T31A probably benign Het
Sez6 T A 11: 77,853,775 (GRCm39) L148Q possibly damaging Het
Sh2d6 C T 6: 72,494,584 (GRCm39) V96I probably benign Het
Slc16a9 G T 10: 70,102,966 (GRCm39) V81F probably damaging Het
Slc9a9 T A 9: 94,902,767 (GRCm39) probably null Het
Sppl3 T A 5: 115,199,662 (GRCm39) L22Q probably damaging Het
Ssc5d T C 7: 4,947,326 (GRCm39) S1227P probably benign Het
Tbc1d1 T A 5: 64,421,709 (GRCm39) V238E probably damaging Het
Tmco6 G A 18: 36,871,798 (GRCm39) probably null Het
Tyr A G 7: 87,133,205 (GRCm39) V287A probably benign Het
Uvrag A T 7: 98,555,697 (GRCm39) probably null Het
Vmn1r167 A G 7: 23,204,975 (GRCm39) S14P possibly damaging Het
Vmn1r171 A G 7: 23,332,113 (GRCm39) T113A possibly damaging Het
Wnk4 A G 11: 101,167,039 (GRCm39) probably benign Het
Zan T C 5: 137,454,512 (GRCm39) T1431A unknown Het
Other mutations in Med25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01452:Med25 APN 7 44,532,255 (GRCm39) missense possibly damaging 0.86
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
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
Posted On 2015-12-18