Incidental Mutation 'IGL02115:Setdb2'
ID280329
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: 0.524) question?
Stock #IGL02115
Quality Score
Status
Chromosome14
Chromosomal Location59402009-59440884 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 59402315 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 709 (R709Q)
Ref Sequence ENSEMBL: ENSMUSP00000093450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095775] [ENSMUST00000161459]
Predicted Effect probably damaging
Transcript: ENSMUST00000095775
AA Change: R709Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: R709Q

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: R693Q

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: R693Q

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik A T 7: 125,331,609 noncoding transcript Het
Abca7 A T 10: 79,998,079 N76Y probably damaging Het
Apob A G 12: 7,992,923 K755R probably benign Het
BC034090 A T 1: 155,232,651 probably benign Het
Brinp1 T C 4: 68,762,398 T632A probably benign Het
Cdcp1 C A 9: 123,185,397 C104F probably damaging Het
Cfap206 C T 4: 34,722,623 V153I possibly damaging Het
Chd1l A T 3: 97,589,904 probably null Het
Ckb A G 12: 111,669,981 F271L possibly damaging Het
Col6a3 T A 1: 90,807,651 I759L probably damaging Het
Ddr2 A T 1: 169,994,709 M390K probably benign Het
Dhx8 C T 11: 101,752,388 P762L probably damaging Het
Dnah3 A T 7: 120,029,054 V1449E probably damaging Het
Dzip3 T C 16: 48,948,485 I629M probably benign Het
Ep300 T C 15: 81,648,818 I1692T unknown Het
Ercc6 T A 14: 32,576,993 L1446Q probably damaging Het
Gm10092 T C 16: 36,137,623 noncoding transcript Het
Gm6900 A T 7: 10,656,576 noncoding transcript Het
Gpr149 T C 3: 62,594,915 T507A probably benign Het
Hmcn1 T A 1: 150,630,728 D3776V probably damaging Het
Irgm2 A G 11: 58,220,122 E225G probably benign Het
Kif14 T C 1: 136,496,567 probably benign Het
Klhl22 T C 16: 17,776,595 V196A probably damaging Het
Lig4 T C 8: 9,973,247 S178G possibly damaging Het
Lzts2 A G 19: 45,026,370 probably benign Het
Mcoln3 C T 3: 146,137,301 S380L probably damaging Het
Med12l A T 3: 59,068,319 T223S probably benign Het
Mrpl54 A G 10: 81,265,649 probably null Het
Myo1c A T 11: 75,661,591 I397F probably damaging Het
Nbas A T 12: 13,317,692 probably benign Het
Ncoa2 G A 1: 13,152,817 H1195Y probably damaging Het
Nol3 A G 8: 105,279,631 M171V probably benign Het
Olfr167 A T 16: 19,515,103 C178S probably damaging Het
Olfr593 A G 7: 103,212,474 T194A probably damaging Het
Pdpr C T 8: 111,103,998 L107F probably damaging Het
Ppfibp2 G A 7: 107,739,318 probably benign Het
Rusc2 T C 4: 43,426,136 probably benign Het
Sdk2 G T 11: 113,834,813 probably benign Het
Sema7a T C 9: 57,960,900 C539R probably damaging Het
Senp6 T C 9: 80,121,926 C524R probably damaging Het
Slc15a1 A T 14: 121,480,661 Y269N possibly damaging Het
Synj2 T A 17: 6,017,590 Y113N probably damaging Het
Tm6sf1 A T 7: 81,875,803 Y172F probably damaging Het
Trpv4 T C 5: 114,625,029 D773G probably damaging Het
Ttc39a A G 4: 109,426,294 probably benign Het
Tut1 C T 19: 8,965,312 R588W probably damaging Het
Unc79 A T 12: 102,998,674 Y74F probably damaging Het
Usp53 A T 3: 122,947,390 I737K probably benign Het
Vmn2r67 A T 7: 85,151,579 M383K probably damaging Het
Zc3h4 A G 7: 16,425,783 D426G unknown Het
Zfp622 A G 15: 25,987,200 N308S probably damaging 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
IGL02003:Setdb2 APN 14 59413490 missense probably damaging 0.98
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
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 On2015-04-16