Incidental Mutation 'R6556:Med30'
ID 522203
Institutional Source Beutler Lab
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 # R6556 (G1)
Quality Score 86.0076
Status Not validated
Chromosome 15
Chromosomal Location 52575841-52593827 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to G at 52593779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000042204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037115]
AlphaFold Q9CQI9
Predicted Effect probably benign
Transcript: ENSMUST00000037115
SMART Domains Protein: ENSMUSP00000042204
Gene: ENSMUSG00000038622

DomainStartEndE-ValueType
Pfam:Med30 29 176 3.9e-67 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atosb C T 4: 43,033,896 (GRCm39) R460H probably damaging Het
Atp2a1 G T 7: 126,049,434 (GRCm39) P536Q probably benign Het
Bnip5 T A 17: 29,123,585 (GRCm39) D114V probably damaging Het
Cabyr T A 18: 12,884,073 (GRCm39) S187T probably benign Het
Camkk1 A T 11: 72,924,696 (GRCm39) N303I probably benign Het
Cdh13 C T 8: 119,694,926 (GRCm39) P259S probably damaging Het
Csnk1g3 A G 18: 54,063,354 (GRCm39) D255G possibly damaging Het
Dennd5b A C 6: 148,915,749 (GRCm39) probably null Het
Dnajc14 A G 10: 128,650,500 (GRCm39) D528G probably benign Het
Edem1 T C 6: 108,831,318 (GRCm39) F593S probably benign Het
Efcab3 A G 11: 104,899,077 (GRCm39) N4343S probably null Het
Erbb2 G A 11: 98,326,908 (GRCm39) D1106N possibly damaging Het
Ermp1 T C 19: 29,590,321 (GRCm39) M794V possibly damaging Het
Fip1l1 T A 5: 74,707,838 (GRCm39) probably null Het
Gm20730 C T 6: 43,058,476 (GRCm39) C112Y probably damaging Het
Gtf2h1 T A 7: 46,458,089 (GRCm39) C245S probably damaging Het
Hdhd5 T C 6: 120,500,515 (GRCm39) H61R probably benign Het
Ighv1-71 A T 12: 115,706,092 (GRCm39) V31E probably damaging Het
Igsf9b T C 9: 27,240,851 (GRCm39) F688S probably damaging Het
Iqcd T C 5: 120,740,443 (GRCm39) V258A probably damaging Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Lpo G T 11: 87,708,589 (GRCm39) Y136* probably null Het
Mertk T A 2: 128,618,341 (GRCm39) V524D probably benign Het
Ndufb11b A G 15: 81,864,939 (GRCm39) D60G probably damaging Het
Or4c126 T A 2: 89,824,517 (GRCm39) F260Y probably benign Het
Or4c52 T C 2: 89,845,438 (GRCm39) Y55H probably damaging Het
Or5l13 T C 2: 87,780,320 (GRCm39) I86V probably benign Het
Pde6b T A 5: 108,569,367 (GRCm39) M358K possibly damaging Het
Prep GA G 10: 45,034,410 (GRCm39) probably null Het
Prpf4b G A 13: 35,080,015 (GRCm39) R793Q probably damaging Het
Rela T A 19: 5,697,366 (GRCm39) N524K probably damaging Het
Relch T A 1: 105,654,165 (GRCm39) F845I probably damaging Het
Rnaset2a T C 17: 8,360,480 (GRCm39) D74G probably damaging Het
Semp2l2a G A 8: 13,887,690 (GRCm39) Q134* probably null Het
Serinc2 T A 4: 130,152,064 (GRCm39) I267F probably damaging Het
Sesn3 T C 9: 14,232,549 (GRCm39) F274S possibly damaging Het
Spag1 T C 15: 36,195,553 (GRCm39) Y249H probably damaging Het
Sstr1 A T 12: 58,260,478 (GRCm39) D367V possibly damaging Het
Tasor T G 14: 27,151,215 (GRCm39) Y64D probably benign Het
Tnnt1 T C 7: 4,512,576 (GRCm39) E110G probably damaging Het
Tpm1 T A 9: 66,935,451 (GRCm39) probably null Het
Unc93b1 T C 19: 3,994,105 (GRCm39) V412A probably benign Het
Uox G C 3: 146,330,403 (GRCm39) probably null Het
Usp44 T C 10: 93,681,870 (GRCm39) Y107H probably benign Het
Other mutations in Med30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Med30 APN 15 52,584,456 (GRCm39) missense probably benign 0.12
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
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
Predicted Primers PCR Primer
(F):5'- GCTCTACTCATGTGATGAAGTTGG -3'
(R):5'- AATTTGTGCCTTCAAATCGCC -3'

Sequencing Primer
(F):5'- ACTCATGTGATGAAGTTGGGTTTTTC -3'
(R):5'- TCAGAAAAACGCGTTAAGATCATG -3'
Posted On 2018-06-06