Incidental Mutation 'IGL02003:Setdb2'
ID182175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Setdb2
Ensembl Gene ENSMUSG00000071350
Gene NameSET domain, bifurcated 2
SynonymsKMT1F, LOC239122
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.612) question?
Stock #IGL02003
Quality Score
Status
Chromosome14
Chromosomal Location59402009-59440884 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59413490 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 464 (E464G)
Ref Sequence ENSEMBL: ENSMUSP00000093450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095775] [ENSMUST00000161459]
Predicted Effect probably damaging
Transcript: ENSMUST00000095775
AA Change: E464G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: E464G

DomainStartEndE-ValueType
Pfam:MBD 164 236 3.4e-10 PFAM
Pfam:Pre-SET 250 362 1.7e-17 PFAM
SET 370 694 9.33e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159640
Predicted Effect possibly damaging
Transcript: ENSMUST00000161459
AA Change: E448G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: E448G

DomainStartEndE-ValueType
Pfam:MBD 148 220 2.7e-9 PFAM
Pfam:Pre-SET 233 346 1.3e-19 PFAM
SET 354 678 9.33e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161959
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit altered response to infection and improved patology following superinfection of influenza virus-infected mice with S. pneumonia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449E01Rik A G 14: 105,498,958 noncoding transcript Het
Adam1b G A 5: 121,501,291 L564F probably damaging Het
Alms1 C T 6: 85,622,223 P1344S possibly damaging Het
Cnnm2 G T 19: 46,868,559 G699W probably damaging Het
Crybg2 A G 4: 134,072,456 K309R probably benign Het
Csnk2a1 C T 2: 152,276,970 R333* probably null Het
Eif3m C T 2: 105,012,843 probably benign Het
Fgfr2 T C 7: 130,219,072 D244G probably damaging Het
H2-Q10 A G 17: 35,470,441 I47V probably benign Het
Hmcn2 C T 2: 31,428,982 T3898I possibly damaging Het
Isyna1 G A 8: 70,596,757 V440M possibly damaging Het
Itpr3 A G 17: 27,121,475 K2654E probably damaging Het
Lrrd1 C T 5: 3,849,857 T54I probably damaging Het
Lrrk2 G A 15: 91,731,491 V843M probably damaging Het
Morc2b A T 17: 33,138,324 V158D probably benign Het
Mroh7 T C 4: 106,702,529 T734A probably damaging Het
Mylk3 T C 8: 85,359,098 D136G probably benign Het
Nos1 T C 5: 117,905,465 S602P probably damaging Het
Nsmaf T C 4: 6,418,522 I428V probably benign Het
Nup93 T G 8: 94,302,109 Y323* probably null Het
Olfr203 G A 16: 59,303,633 G161D probably damaging Het
Olfr836 A T 9: 19,121,065 M34L probably benign Het
Olfr914 C T 9: 38,606,840 A125V probably damaging Het
Ppm1m C A 9: 106,199,157 G13W probably damaging Het
Prok1 T G 3: 107,235,663 H75P probably damaging Het
Ptprb A T 10: 116,367,505 I1774F probably damaging Het
Rasl10b A T 11: 83,417,853 E73V probably damaging Het
Rhbdl3 A G 11: 80,337,516 T271A possibly damaging Het
Serpina3a A G 12: 104,116,000 M11V probably benign Het
Slc8a1 A G 17: 81,428,196 I749T possibly damaging Het
Slco6d1 T A 1: 98,480,768 I463N probably damaging Het
Sncb A T 13: 54,762,930 V51E probably damaging Het
Stk32c A G 7: 139,188,153 S71P possibly damaging Het
Tet1 A G 10: 62,816,400 V1613A possibly damaging Het
Vmn2r91 T A 17: 18,107,659 I505K probably benign Het
Zfp110 A T 7: 12,849,905 K827* probably null Het
Zfp438 A T 18: 5,214,503 C152S probably benign Het
Other mutations in Setdb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Setdb2 APN 14 59415792 missense probably damaging 1.00
IGL01695:Setdb2 APN 14 59402293 utr 3 prime probably benign
IGL01720:Setdb2 APN 14 59423436 missense possibly damaging 0.76
IGL02023:Setdb2 APN 14 59431158 missense probably damaging 1.00
IGL02108:Setdb2 APN 14 59402315 missense probably damaging 1.00
IGL02113:Setdb2 APN 14 59402315 missense probably damaging 1.00
IGL02114:Setdb2 APN 14 59402315 missense probably damaging 1.00
IGL02115:Setdb2 APN 14 59402315 missense probably damaging 1.00
IGL02116:Setdb2 APN 14 59402315 missense probably damaging 1.00
IGL02117:Setdb2 APN 14 59402315 missense probably damaging 1.00
IGL02141:Setdb2 APN 14 59402315 missense probably damaging 1.00
IGL02148:Setdb2 APN 14 59402315 missense probably damaging 1.00
R0419:Setdb2 UTSW 14 59406744 splice site probably null
R0610:Setdb2 UTSW 14 59417470 missense possibly damaging 0.55
R0636:Setdb2 UTSW 14 59406704 missense probably benign 0.40
R0890:Setdb2 UTSW 14 59419220 missense possibly damaging 0.89
R0931:Setdb2 UTSW 14 59423496 splice site probably benign
R1355:Setdb2 UTSW 14 59417441 missense probably damaging 1.00
R1553:Setdb2 UTSW 14 59417485 missense probably benign 0.04
R1968:Setdb2 UTSW 14 59419409 missense probably damaging 1.00
R2472:Setdb2 UTSW 14 59419454 missense possibly damaging 0.49
R2894:Setdb2 UTSW 14 59426467 missense probably benign 0.00
R3919:Setdb2 UTSW 14 59419167 missense probably damaging 1.00
R4609:Setdb2 UTSW 14 59415704 missense probably damaging 1.00
R4629:Setdb2 UTSW 14 59409359 missense probably benign 0.13
R4816:Setdb2 UTSW 14 59413646 missense probably benign 0.05
R4864:Setdb2 UTSW 14 59409266 missense probably benign 0.01
R4951:Setdb2 UTSW 14 59402303 missense possibly damaging 0.72
R5040:Setdb2 UTSW 14 59415707 missense probably damaging 0.99
R5245:Setdb2 UTSW 14 59426494 missense probably null 0.00
R5358:Setdb2 UTSW 14 59409436 missense probably benign 0.17
R5656:Setdb2 UTSW 14 59419118 missense probably damaging 1.00
R5705:Setdb2 UTSW 14 59423365 missense possibly damaging 0.80
R6103:Setdb2 UTSW 14 59409532 splice site probably null
R6106:Setdb2 UTSW 14 59423449 nonsense probably null
R6388:Setdb2 UTSW 14 59424697 missense probably benign
R6431:Setdb2 UTSW 14 59419056 missense probably damaging 1.00
R6494:Setdb2 UTSW 14 59402414 missense probably benign 0.12
R6971:Setdb2 UTSW 14 59415740 missense probably damaging 1.00
R7442:Setdb2 UTSW 14 59419251 missense probably damaging 0.99
R7444:Setdb2 UTSW 14 59423345 nonsense probably null
R7759:Setdb2 UTSW 14 59419364 missense probably damaging 1.00
R8021:Setdb2 UTSW 14 59423384 nonsense probably null
R8039:Setdb2 UTSW 14 59402375 missense probably damaging 1.00
X0017:Setdb2 UTSW 14 59419468 missense probably damaging 1.00
Posted On2014-05-07