Incidental Mutation 'IGL03062:Med28'
ID409486
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 #IGL03062
Quality Score
Status
Chromosome5
Chromosomal Location45520229-45529276 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 45522469 bp
ZygosityHeterozygous
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]
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
4932438A13Rik T C 3: 37,038,517 probably benign Het
Abcb10 C T 8: 123,954,315 R714Q possibly damaging Het
Abcb5 T A 12: 118,936,087 I282L probably benign Het
Aox1 A T 1: 58,078,465 E835D probably benign Het
Arhgap17 C T 7: 123,321,874 probably null Het
Calcr C T 6: 3,693,718 V359I probably benign Het
Chd9 T A 8: 91,015,267 probably benign Het
Col28a1 T C 6: 8,017,029 probably benign Het
Dnajc11 A G 4: 151,970,861 E171G possibly damaging Het
Efhd1 T C 1: 87,264,684 F79L possibly damaging Het
Fam83a A T 15: 57,993,077 probably null Het
Fam98a A G 17: 75,540,105 probably benign Het
Ficd A G 5: 113,738,253 Y163C probably damaging Het
Filip1l T C 16: 57,506,804 S66P probably damaging Het
Fmo5 A G 3: 97,635,593 Y73C probably damaging Het
Galnt12 C A 4: 47,122,566 R574S possibly damaging Het
Klc3 C A 7: 19,395,062 G461W probably damaging Het
Lmo7 A T 14: 101,912,079 T973S possibly damaging Het
Loxl1 C A 9: 58,311,910 G326V possibly damaging Het
Lrrc24 A G 15: 76,718,304 V127A probably benign Het
Lyrm1 T C 7: 119,916,131 probably benign Het
Mgat4c T C 10: 102,388,461 Y179H probably damaging Het
Micall1 A C 15: 79,114,681 N58T probably damaging Het
Ncoa4 T A 14: 32,173,420 M72K possibly damaging Het
Nutm1 T C 2: 112,248,933 Q879R probably benign Het
Olfr1428 C T 19: 12,109,148 V133I probably benign Het
Olfr870 T A 9: 20,171,167 I135F probably damaging Het
Olfr965 T A 9: 39,720,035 D269E probably benign Het
Phf11b T C 14: 59,324,924 I177M probably damaging Het
Pin1rt1 T G 2: 104,714,707 I27L probably benign Het
Plxna2 T C 1: 194,762,550 V750A possibly damaging Het
Pou5f1 A T 17: 35,510,039 N126I possibly damaging Het
Ptprn A T 1: 75,247,873 H946Q possibly damaging Het
Rnf43 G T 11: 87,732,304 G744* probably null Het
Rsbn1 C A 3: 103,953,629 probably benign Het
Sars2 T A 7: 28,746,781 I145N possibly damaging Het
Sh3tc2 A T 18: 62,011,880 E1135V probably damaging Het
Shroom1 A G 11: 53,463,379 D42G probably benign Het
Sidt2 A G 9: 45,942,683 probably null Het
Slc39a8 T C 3: 135,886,797 probably benign Het
Slc9c1 T C 16: 45,599,758 S1059P probably benign Het
Socs6 A T 18: 88,869,846 M315K probably benign Het
Soga3 T A 10: 29,198,949 F911Y probably damaging Het
Speer2 T C 16: 69,857,977 E200G probably damaging Het
Sult2a5 T A 7: 13,624,182 probably null Het
Tmbim1 A T 1: 74,291,699 I168N possibly damaging Het
Trim38 T C 13: 23,782,963 V131A probably damaging Het
Ube2o A G 11: 116,541,642 S833P probably damaging Het
Uggt2 T C 14: 119,075,346 I350M probably damaging Het
Unc80 A G 1: 66,509,489 D640G probably damaging Het
Vmn2r13 A G 5: 109,156,282 F761S probably damaging Het
Vmn2r54 C T 7: 12,632,428 C193Y probably damaging Het
Other mutations in Med28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Med28 APN 5 45523470 missense probably damaging 1.00
IGL01702:Med28 APN 5 45525291 missense probably benign 0.07
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 On2016-08-02