Incidental Mutation 'R5539:Med30'
ID 435842
Institutional Source Beutler Lab
Gene Symbol Med30
Ensembl Gene ENSMUSG00000038622
Gene Name mediator complex subunit 30
Synonyms Thrap6, Trap25, 2510044J04Rik, 1810038N03Rik
MMRRC Submission 043097-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5539 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 52575841-52593827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 52584462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 127 (D127Y)
Ref Sequence ENSEMBL: ENSMUSP00000042204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037115]
AlphaFold Q9CQI9
Predicted Effect probably damaging
Transcript: ENSMUST00000037115
AA Change: D127Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000042204
Gene: ENSMUSG00000038622
AA Change: D127Y

DomainStartEndE-ValueType
Pfam:Med30 29 176 3.9e-67 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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
2310034C09Rik A T 16: 88,555,917 (GRCm39) S44C probably damaging Het
Abca4 A G 3: 121,963,557 (GRCm39) I846V probably damaging Het
Aldh4a1 T C 4: 139,365,833 (GRCm39) S275P probably benign Het
Arhgap12 A T 18: 6,111,932 (GRCm39) L144H probably benign Het
Ccdc141 A T 2: 76,845,437 (GRCm39) I1210N probably damaging Het
Ccdc175 T C 12: 72,191,587 (GRCm39) T330A probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dnah17 T C 11: 117,964,486 (GRCm39) K2444E probably benign Het
Dnajc3 G A 14: 119,208,159 (GRCm39) V265M probably damaging Het
Flg2 T A 3: 93,127,753 (GRCm39) Y2222N unknown Het
Flnc G T 6: 29,446,229 (GRCm39) G882V probably damaging Het
Fndc5 T A 4: 129,032,514 (GRCm39) V39D probably damaging Het
Gabrr3 A T 16: 59,281,758 (GRCm39) H371L probably benign Het
Gm10717 A T 9: 3,030,438 (GRCm39) H33L probably damaging Het
Gm5422 A G 10: 31,124,646 (GRCm39) noncoding transcript Het
Kri1 G A 9: 21,190,668 (GRCm39) Q280* probably null Het
Lcp1 T C 14: 75,466,738 (GRCm39) V615A probably benign Het
Ltbp4 T C 7: 27,027,149 (GRCm39) Y407C probably damaging Het
Mybpc2 A G 7: 44,164,317 (GRCm39) V416A probably benign Het
Notch2 C T 3: 98,044,898 (GRCm39) R1607C probably damaging Het
Nr4a3 T A 4: 48,056,525 (GRCm39) probably null Het
Ntf5 G T 7: 45,065,354 (GRCm39) R162L probably benign Het
Nxpe3 A G 16: 55,711,034 (GRCm39) W2R possibly damaging Het
Or10d1c T C 9: 38,893,573 (GRCm39) I256V possibly damaging Het
Or14j4 T A 17: 37,921,646 (GRCm39) M1L probably benign Het
Or1m1 G A 9: 18,666,134 (GRCm39) R266C probably damaging Het
Or5p58 A T 7: 107,694,433 (GRCm39) C115S probably benign Het
Pan2 C A 10: 128,144,002 (GRCm39) D99E probably benign Het
Pcdh12 T C 18: 38,414,797 (GRCm39) H776R possibly damaging Het
Prdm2 T C 4: 142,859,264 (GRCm39) H1342R possibly damaging Het
Prpf8 A G 11: 75,394,464 (GRCm39) T1800A probably benign Het
Prss40 T C 1: 34,591,760 (GRCm39) *148W probably null Het
Pygo1 C T 9: 72,852,061 (GRCm39) P83S probably damaging Het
Raf1 G T 6: 115,596,317 (GRCm39) S619R probably damaging Het
Rtf1 A G 2: 119,560,405 (GRCm39) M596V possibly damaging Het
Slc12a5 T A 2: 164,829,126 (GRCm39) D578E possibly damaging Het
Slc35b4 A G 6: 34,153,737 (GRCm39) V18A probably damaging Het
Spata31 T A 13: 65,070,783 (GRCm39) I977K probably benign Het
Tor2a T C 2: 32,650,672 (GRCm39) I222T probably damaging Het
Trim23 T C 13: 104,334,541 (GRCm39) V347A probably damaging Het
Trip11 A G 12: 101,851,386 (GRCm39) S893P probably damaging Het
Trmt10c G A 16: 55,855,324 (GRCm39) P104S probably damaging Het
Ubr3 A T 2: 69,850,877 (GRCm39) Y1765F probably damaging Het
Zfp951 C T 5: 104,962,712 (GRCm39) E285K probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GCCTTTGCCTGAAAAGAATCT -3'
(R):5'- CCGGAACTTGCATACACATCACTT -3'

Sequencing Primer
(F):5'- CTAAGCAGATGCAGTCTC -3'
(R):5'- CAGCTCGTCTGAGTTCAAGATAG -3'
Posted On 2016-10-24