Incidental Mutation 'R2960:Med8'
ID 255874
Institutional Source Beutler Lab
Gene Symbol Med8
Ensembl Gene ENSMUSG00000006392
Gene Name mediator complex subunit 8
Synonyms ARC32, 2210021A15Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R2960 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 118266534-118272979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118271944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 222 (T222A)
Ref Sequence ENSEMBL: ENSMUSP00000101992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019229] [ENSMUST00000073881] [ENSMUST00000084319] [ENSMUST00000106384] [ENSMUST00000126089] [ENSMUST00000144577]
AlphaFold Q9D7W5
Predicted Effect probably damaging
Transcript: ENSMUST00000019229
AA Change: T256A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019229
Gene: ENSMUSG00000006392
AA Change: T256A

DomainStartEndE-ValueType
Pfam:Med8 1 265 1.2e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000073881
AA Change: T117A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073544
Gene: ENSMUSG00000006392
AA Change: T117A

DomainStartEndE-ValueType
Pfam:Med8 2 129 1.4e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000084319
AA Change: T167A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081346
Gene: ENSMUSG00000006392
AA Change: T167A

DomainStartEndE-ValueType
Pfam:Med8 2 179 1.1e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106384
AA Change: T222A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101992
Gene: ENSMUSG00000006392
AA Change: T222A

DomainStartEndE-ValueType
Pfam:Med8 1 234 3.3e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125235
Predicted Effect probably benign
Transcript: ENSMUST00000126089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152633
Predicted Effect probably benign
Transcript: ENSMUST00000144577
SMART Domains Protein: ENSMUSP00000120158
Gene: ENSMUSG00000006392

DomainStartEndE-ValueType
Pfam:Med8 2 75 3.7e-23 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein component of the mediator complex, which aids in transcriptional activation through interaction with RNA polymerase II and gene-specific transcription factors. The encoded protein may also function in ubiquitin ligation and protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl5c A G 11: 97,885,902 (GRCm39) L33P probably damaging Het
Auh A T 13: 52,993,610 (GRCm39) I268N probably damaging Het
Cimap2 A G 4: 106,470,615 (GRCm39) S186P probably damaging Het
Defa25 A T 8: 21,575,273 (GRCm39) H84L probably benign Het
Endou T C 15: 97,611,687 (GRCm39) Y317C probably damaging Het
Fmn2 C T 1: 174,437,385 (GRCm39) L1119F probably damaging Het
Glyat T A 19: 12,617,214 (GRCm39) L22H probably damaging Het
Gpd2 C T 2: 57,228,987 (GRCm39) R264* probably null Het
Grb7 C T 11: 98,343,087 (GRCm39) T268I probably damaging Het
Ints15 A T 5: 143,293,776 (GRCm39) F234I probably benign Het
Itfg2 G A 6: 128,390,515 (GRCm39) A190V probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Mdga2 G T 12: 66,676,752 (GRCm39) Y513* probably null Het
Nup43 T C 10: 7,546,713 (GRCm39) V111A probably benign Het
Or9s14 A G 1: 92,536,050 (GRCm39) I164V probably benign Het
Rfx3 G A 19: 27,878,211 (GRCm39) Q29* probably null Het
Rfx8 A G 1: 39,722,112 (GRCm39) V291A probably damaging Het
Scnn1a A G 6: 125,299,256 (GRCm39) Y112C probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tmx3 T C 18: 90,551,116 (GRCm39) V252A probably damaging Het
Vmn1r216 A G 13: 23,284,103 (GRCm39) D262G probably benign Het
Vmn1r9 A G 6: 57,048,657 (GRCm39) D244G possibly damaging Het
Xkr6 T A 14: 63,844,586 (GRCm39) M203K possibly damaging Het
Zfr G A 15: 12,162,319 (GRCm39) R823H probably benign Het
Other mutations in Med8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1700:Med8 UTSW 4 118,269,931 (GRCm39) missense possibly damaging 0.58
R4335:Med8 UTSW 4 118,266,567 (GRCm39) splice site probably null
R4651:Med8 UTSW 4 118,268,089 (GRCm39) missense probably damaging 0.99
R4652:Med8 UTSW 4 118,268,089 (GRCm39) missense probably damaging 0.99
R4723:Med8 UTSW 4 118,268,998 (GRCm39) start codon destroyed probably null 0.97
R7483:Med8 UTSW 4 118,268,176 (GRCm39) missense probably damaging 1.00
R7665:Med8 UTSW 4 118,268,853 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TCTTCAGTCAGGGAAGCAGG -3'
(R):5'- ACTTGATCCTGGGCCCATTG -3'

Sequencing Primer
(F):5'- GAAGAACTGCAGCCTGTAGTAATCTC -3'
(R):5'- CCAAGTTCGAATGGCTATTCACAGTG -3'
Posted On 2014-12-29