Incidental Mutation 'IGL03062:Med28'
ID 409486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med28
Ensembl Gene ENSMUSG00000015804
Gene Name mediator complex subunit 28
Synonyms Eg1, magicin, 1500003D12Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03062
Quality Score
Status
Chromosome 5
Chromosomal Location 45677571-45686618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45679811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 65 (V65I)
Ref Sequence ENSEMBL: ENSMUSP00000115882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118833] [ENSMUST00000119579] [ENSMUST00000156481]
AlphaFold Q920D3
Predicted Effect noncoding transcript
Transcript: ENSMUST00000015948
Predicted Effect probably damaging
Transcript: ENSMUST00000118833
AA Change: V65I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113027
Gene: ENSMUSG00000015804
AA Change: V65I

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: V65I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115882
Gene: ENSMUSG00000015804
AA Change: V65I

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,681,054 (GRCm39) R714Q possibly damaging Het
Abcb5 T A 12: 118,899,822 (GRCm39) I282L probably benign Het
Aox1 A T 1: 58,117,624 (GRCm39) E835D probably benign Het
Arhgap17 C T 7: 122,921,097 (GRCm39) probably null Het
Bltp1 T C 3: 37,092,666 (GRCm39) probably benign Het
Calcr C T 6: 3,693,718 (GRCm39) V359I probably benign Het
Chd9 T A 8: 91,741,895 (GRCm39) probably benign Het
Col28a1 T C 6: 8,017,029 (GRCm39) probably benign Het
Dnajc11 A G 4: 152,055,318 (GRCm39) E171G possibly damaging Het
Efhd1 T C 1: 87,192,406 (GRCm39) F79L possibly damaging Het
Fam83a A T 15: 57,856,473 (GRCm39) probably null Het
Fam98a A G 17: 75,847,100 (GRCm39) probably benign Het
Ficd A G 5: 113,876,314 (GRCm39) Y163C probably damaging Het
Filip1l T C 16: 57,327,167 (GRCm39) S66P probably damaging Het
Fmo5 A G 3: 97,542,909 (GRCm39) Y73C probably damaging Het
Galnt12 C A 4: 47,122,566 (GRCm39) R574S possibly damaging Het
Klc3 C A 7: 19,128,987 (GRCm39) G461W probably damaging Het
Lmo7 A T 14: 102,149,515 (GRCm39) T973S possibly damaging Het
Loxl1 C A 9: 58,219,193 (GRCm39) G326V possibly damaging Het
Lrrc24 A G 15: 76,602,504 (GRCm39) V127A probably benign Het
Lyrm1 T C 7: 119,515,354 (GRCm39) probably benign Het
Mgat4c T C 10: 102,224,322 (GRCm39) Y179H probably damaging Het
Micall1 A C 15: 78,998,881 (GRCm39) N58T probably damaging Het
Mtcl3 T A 10: 29,074,945 (GRCm39) F911Y probably damaging Het
Ncoa4 T A 14: 31,895,377 (GRCm39) M72K possibly damaging Het
Nutm1 T C 2: 112,079,278 (GRCm39) Q879R probably benign Het
Or4d6 C T 19: 12,086,512 (GRCm39) V133I probably benign Het
Or8b12i T A 9: 20,082,463 (GRCm39) I135F probably damaging Het
Or8g52 T A 9: 39,631,331 (GRCm39) D269E probably benign Het
Phf11b T C 14: 59,562,373 (GRCm39) I177M probably damaging Het
Pin1rt1 T G 2: 104,545,052 (GRCm39) I27L probably benign Het
Plxna2 T C 1: 194,444,858 (GRCm39) V750A possibly damaging Het
Pou5f1 A T 17: 35,820,936 (GRCm39) N126I possibly damaging Het
Ptprn A T 1: 75,224,517 (GRCm39) H946Q possibly damaging Het
Rnf43 G T 11: 87,623,130 (GRCm39) G744* probably null Het
Rsbn1 C A 3: 103,860,945 (GRCm39) probably benign Het
Sars2 T A 7: 28,446,206 (GRCm39) I145N possibly damaging Het
Sh3tc2 A T 18: 62,144,951 (GRCm39) E1135V probably damaging Het
Shroom1 A G 11: 53,354,206 (GRCm39) D42G probably benign Het
Sidt2 A G 9: 45,853,981 (GRCm39) probably null Het
Slc39a8 T C 3: 135,592,558 (GRCm39) probably benign Het
Slc9c1 T C 16: 45,420,121 (GRCm39) S1059P probably benign Het
Socs6 A T 18: 88,887,970 (GRCm39) M315K probably benign Het
Speer2 T C 16: 69,654,865 (GRCm39) E200G probably damaging Het
Sult2a5 T A 7: 13,358,107 (GRCm39) probably null Het
Tmbim1 A T 1: 74,330,858 (GRCm39) I168N possibly damaging Het
Trim38 T C 13: 23,966,946 (GRCm39) V131A probably damaging Het
Ube2o A G 11: 116,432,468 (GRCm39) S833P probably damaging Het
Uggt2 T C 14: 119,312,758 (GRCm39) I350M probably damaging Het
Unc80 A G 1: 66,548,648 (GRCm39) D640G probably damaging Het
Vmn2r13 A G 5: 109,304,148 (GRCm39) F761S probably damaging Het
Vmn2r54 C T 7: 12,366,355 (GRCm39) C193Y probably damaging Het
Other mutations in Med28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Med28 APN 5 45,680,812 (GRCm39) missense probably damaging 1.00
IGL01702:Med28 APN 5 45,682,633 (GRCm39) missense probably benign 0.07
R3076:Med28 UTSW 5 45,679,820 (GRCm39) missense possibly damaging 0.79
R3078:Med28 UTSW 5 45,679,820 (GRCm39) missense possibly damaging 0.79
R5400:Med28 UTSW 5 45,682,541 (GRCm39) missense probably damaging 1.00
R7083:Med28 UTSW 5 45,680,878 (GRCm39) critical splice donor site probably null
R7208:Med28 UTSW 5 45,680,794 (GRCm39) missense probably damaging 1.00
R7998:Med28 UTSW 5 45,682,541 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02