Incidental Mutation 'IGL01065:Med30'
ID 52757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med30
Ensembl Gene ENSMUSG00000038622
Gene Name mediator complex subunit 30
Synonyms Thrap6, Trap25, 2510044J04Rik, 1810038N03Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01065
Quality Score
Status
Chromosome 15
Chromosomal Location 52575841-52593827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52584456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 125 (N125Y)
Ref Sequence ENSEMBL: ENSMUSP00000042204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037115]
AlphaFold Q9CQI9
Predicted Effect probably benign
Transcript: ENSMUST00000037115
AA Change: N125Y

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000042204
Gene: ENSMUSG00000038622
AA Change: N125Y

DomainStartEndE-ValueType
Pfam:Med30 29 176 3.9e-67 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. MED30 is a component of this complex that appears to be metazoan specific (Baek et al., 2002 [PubMed 11909976]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit premature death associated with cachexia and a rapidly progressive cardiomyopathy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apob A G 12: 8,053,299 (GRCm39) Y1247C probably damaging Het
Atg16l1 A T 1: 87,713,653 (GRCm39) N401I probably damaging Het
Bcam T C 7: 19,490,724 (GRCm39) H591R probably benign Het
Bcat1 T C 6: 144,946,015 (GRCm39) S446G possibly damaging Het
C2cd5 A G 6: 143,024,005 (GRCm39) S262P probably damaging Het
Clrn1 T C 3: 58,792,446 (GRCm39) K6E probably damaging Het
D17H6S53E A T 17: 35,346,259 (GRCm39) K57* probably null Het
Dennd1a T A 2: 37,734,917 (GRCm39) I17F probably benign Het
Depdc7 A C 2: 104,552,426 (GRCm39) Y460* probably null Het
Disp3 T C 4: 148,345,640 (GRCm39) Y400C probably damaging Het
Edem3 T C 1: 151,653,302 (GRCm39) Y203H probably damaging Het
Fbxl5 A G 5: 43,902,676 (GRCm39) C679R probably damaging Het
Fhad1 T C 4: 141,632,923 (GRCm39) T1194A probably benign Het
Garin4 T C 1: 190,895,224 (GRCm39) D473G probably benign Het
Gipc2 A G 3: 151,808,294 (GRCm39) L253P possibly damaging Het
Gpr26 T C 7: 131,569,230 (GRCm39) Y192H probably damaging Het
Hoxb6 A G 11: 96,191,635 (GRCm39) T186A probably damaging Het
Kif24 A G 4: 41,423,639 (GRCm39) probably benign Het
Lonp1 T C 17: 56,922,500 (GRCm39) probably benign Het
Lrp1 A G 10: 127,410,907 (GRCm39) I1427T probably benign Het
Lrp2 C T 2: 69,299,780 (GRCm39) E3091K possibly damaging Het
Lzts1 T C 8: 69,588,744 (GRCm39) N404S probably benign Het
Map3k4 A T 17: 12,451,877 (GRCm39) D1470E probably damaging Het
Mgam G A 6: 40,639,644 (GRCm39) probably null Het
Mrps33 G A 6: 39,779,447 (GRCm39) R83* probably null Het
Notch3 A T 17: 32,365,390 (GRCm39) Y1107* probably null Het
Rc3h2 T A 2: 37,267,856 (GRCm39) probably benign Het
Rev1 T C 1: 38,138,090 (GRCm39) E65G possibly damaging Het
Rgl1 T C 1: 152,394,893 (GRCm39) N760S probably damaging Het
Slc16a4 T C 3: 107,210,416 (GRCm39) I362T possibly damaging Het
Slc25a24 G A 3: 109,065,967 (GRCm39) probably benign Het
Slc2a4 G T 11: 69,836,782 (GRCm39) probably benign Het
Slc39a13 T A 2: 90,894,051 (GRCm39) I256F probably damaging Het
Spdya A T 17: 71,863,320 (GRCm39) N23I possibly damaging Het
Srpra T A 9: 35,124,734 (GRCm39) W112R probably damaging Het
Tbc1d4 A C 14: 101,686,629 (GRCm39) probably benign Het
Ttc39d G A 17: 80,523,703 (GRCm39) G121R probably damaging Het
Tuba3a C T 6: 125,259,920 (GRCm39) V9M possibly damaging Het
Upf2 A G 2: 5,966,111 (GRCm39) K244E unknown Het
Usp39 T C 6: 72,316,958 (GRCm39) Y141C probably damaging Het
Other mutations in Med30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02657:Med30 APN 15 52,582,761 (GRCm39) missense probably benign 0.08
zeitgeist UTSW 15 52,576,035 (GRCm39) missense probably damaging 1.00
R5519:Med30 UTSW 15 52,584,462 (GRCm39) missense probably damaging 1.00
R5539:Med30 UTSW 15 52,584,462 (GRCm39) missense probably damaging 1.00
R6556:Med30 UTSW 15 52,593,779 (GRCm39) utr 3 prime probably benign
R7997:Med30 UTSW 15 52,593,467 (GRCm39) missense probably damaging 1.00
R8179:Med30 UTSW 15 52,575,964 (GRCm39) missense probably damaging 0.99
R8896:Med30 UTSW 15 52,584,516 (GRCm39) missense possibly damaging 0.61
R9224:Med30 UTSW 15 52,582,839 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21