Incidental Mutation 'IGL00228:Med28'
ID2412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med28
Ensembl Gene ENSMUSG00000015804
Gene Namemediator complex subunit 28
SynonymsEg1, magicin, 1500003D12Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00228
Quality Score
Status
Chromosome5
Chromosomal Location45520229-45529276 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45523470 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 92 (E92G)
Ref Sequence ENSEMBL: ENSMUSP00000115882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118833] [ENSMUST00000119579] [ENSMUST00000156481]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000015948
Predicted Effect probably benign
Transcript: ENSMUST00000118833
SMART Domains Protein: ENSMUSP00000113027
Gene: ENSMUSG00000015804

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119579
SMART Domains Protein: ENSMUSP00000112418
Gene: ENSMUSG00000015804

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Med28 44 116 3.6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139586
Predicted Effect probably damaging
Transcript: ENSMUST00000156481
AA Change: E92G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115882
Gene: ENSMUSG00000015804
AA Change: E92G

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Med28 72 136 4.5e-21 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 G A 13: 104,429,790 G731D possibly damaging Het
Adgre4 C T 17: 55,802,135 L381F probably damaging Het
Baz2a A G 10: 128,124,935 T1538A probably benign Het
C1qtnf6 T C 15: 78,524,894 Y251C probably damaging Het
Cgn T C 3: 94,765,548 N941S probably benign Het
Clca4b T C 3: 144,932,391 I37V probably benign Het
Crtc1 T C 8: 70,439,522 K13E probably benign Het
Cubn A G 2: 13,456,697 L673P probably damaging Het
Cyp4f18 C T 8: 71,989,927 V395I probably damaging Het
Def8 A G 8: 123,459,650 D400G possibly damaging Het
Dvl1 A G 4: 155,853,698 D101G possibly damaging Het
Fbxw20 T A 9: 109,234,702 M1L probably damaging Het
Gad2 C T 2: 22,685,386 H501Y probably benign Het
Herc3 C T 6: 58,874,263 P499L probably damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kyat3 G A 3: 142,726,257 V249I probably damaging Het
Nup155 T C 15: 8,121,455 probably benign Het
Nxf1 T C 19: 8,762,742 I91T possibly damaging Het
Olfr150 T C 9: 39,737,499 I228T probably damaging Het
Orc5 T A 5: 22,523,539 T305S probably damaging Het
Psme4 T C 11: 30,815,710 probably null Het
Rtca A G 3: 116,504,461 C100R probably damaging Het
Sept14 G T 5: 129,683,651 H377N probably benign Het
Shcbp1l A T 1: 153,435,807 N258I possibly damaging Het
Shisa4 A C 1: 135,373,285 S82R probably damaging Het
Slc38a10 C T 11: 120,138,988 V167M probably damaging Het
Soga3 T A 10: 29,196,473 L587* probably null Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Spata18 G A 5: 73,657,754 E69K possibly damaging Het
Srsf2 A C 11: 116,852,270 probably benign Het
Taf1b T A 12: 24,547,067 V335E possibly damaging Het
Tenm4 G A 7: 96,868,009 V1399I probably benign Het
Topbp1 C T 9: 103,344,943 R1338C probably benign Het
Ugt1a5 A G 1: 88,166,440 E130G probably benign Het
Wdfy2 T A 14: 62,944,077 S219T probably damaging Het
Zbtb38 C A 9: 96,687,494 R512S probably damaging Het
Zfp574 T C 7: 25,081,590 V679A probably benign Het
Other mutations in Med28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01702:Med28 APN 5 45525291 missense probably benign 0.07
IGL03062:Med28 APN 5 45522469 missense probably damaging 1.00
R3076:Med28 UTSW 5 45522478 missense possibly damaging 0.79
R3078:Med28 UTSW 5 45522478 missense possibly damaging 0.79
R5400:Med28 UTSW 5 45525199 missense probably damaging 1.00
R7083:Med28 UTSW 5 45523536 critical splice donor site probably null
R7208:Med28 UTSW 5 45523452 missense probably damaging 1.00
R7998:Med28 UTSW 5 45525199 missense probably damaging 1.00
Posted On2011-12-09