Incidental Mutation 'IGL02148:Setdb2'
ID 281849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Setdb2
Ensembl Gene ENSMUSG00000071350
Gene Name SET domain, bifurcated 2
Synonyms KMT1F, LOC239122
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # IGL02148
Quality Score
Status
Chromosome 14
Chromosomal Location 59639458-59678329 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59639764 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8C267
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna C T 4: 63,300,716 (GRCm39) probably benign Het
AU040320 T C 4: 126,733,469 (GRCm39) V663A possibly damaging Het
Cdh13 A G 8: 119,925,697 (GRCm39) D355G probably damaging Het
Cdyl2 A G 8: 117,315,983 (GRCm39) probably benign Het
Csnk1g3 C T 18: 54,086,360 (GRCm39) R422C probably benign Het
Dclk1 T A 3: 55,407,520 (GRCm39) V233D probably damaging Het
Ddx59 T C 1: 136,361,565 (GRCm39) S477P probably damaging Het
Epb41l1 A T 2: 156,353,748 (GRCm39) probably benign Het
Epha2 T C 4: 141,045,835 (GRCm39) L453P probably damaging Het
Esco2 T C 14: 66,064,044 (GRCm39) H380R probably benign Het
Fbxo38 T C 18: 62,669,298 (GRCm39) M51V probably benign Het
Fgb T C 3: 82,950,594 (GRCm39) M387V probably damaging Het
Fryl A G 5: 73,233,302 (GRCm39) L1522S probably benign Het
Gdf9 T A 11: 53,327,569 (GRCm39) M175K probably benign Het
Gm20547 C T 17: 35,079,524 (GRCm39) D243N probably benign Het
Gramd1b T A 9: 40,227,060 (GRCm39) D299V probably damaging Het
Gsg1l G T 7: 125,522,671 (GRCm39) Q186K possibly damaging Het
H2bl1 A T 13: 99,120,691 (GRCm39) F112I probably damaging Het
Katnip A T 7: 125,472,648 (GRCm39) probably null Het
Kcnh5 A G 12: 74,944,426 (GRCm39) L941P possibly damaging Het
Lrrc8d A G 5: 105,960,253 (GRCm39) D221G possibly damaging Het
Med19 T C 2: 84,515,603 (GRCm39) F96L probably damaging Het
Mei1 C A 15: 81,976,912 (GRCm39) S589* probably null Het
Myh15 G T 16: 48,936,678 (GRCm39) D708Y probably damaging Het
Naca C T 10: 127,879,753 (GRCm39) probably benign Het
Or5d43 A T 2: 88,104,566 (GRCm39) Y276N possibly damaging Het
Otog G A 7: 45,950,011 (GRCm39) C306Y probably damaging Het
Phldb1 T C 9: 44,607,369 (GRCm39) K1279E probably damaging Het
Pkd1 C T 17: 24,798,810 (GRCm39) T369I probably damaging Het
Plekha8 A G 6: 54,592,271 (GRCm39) S32G probably damaging Het
Pramel25 T A 4: 143,519,304 (GRCm39) Y22N probably benign Het
Sema4g A G 19: 44,984,908 (GRCm39) T113A probably damaging Het
Sh3rf3 T C 10: 58,922,562 (GRCm39) M546T probably benign Het
Slc27a5 A G 7: 12,728,878 (GRCm39) V328A probably damaging Het
Spef1 T C 2: 131,014,688 (GRCm39) N78S probably benign Het
Tln1 T C 4: 43,555,388 (GRCm39) T179A probably damaging Het
Tmc5 T C 7: 118,244,547 (GRCm39) I475T probably damaging Het
Top2b A G 14: 16,400,488 (GRCm38) Y621C probably damaging Het
Ttf1 T C 2: 28,969,438 (GRCm39) F727L probably benign Het
Tufm T C 7: 126,088,332 (GRCm39) L75P probably damaging Het
Ugt1a2 T A 1: 88,128,796 (GRCm39) D146E probably damaging Het
Usp15 G A 10: 122,963,742 (GRCm39) T533I probably damaging Het
Vmn1r113 A G 7: 20,521,747 (GRCm39) T180A probably benign Het
Vmn1r205 G T 13: 22,776,395 (GRCm39) P236T probably damaging Het
Vmn2r112 T G 17: 22,838,013 (GRCm39) C825G probably damaging Het
Zfp712 T A 13: 67,190,222 (GRCm39) I102F probably damaging Het
Other mutations in Setdb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Setdb2 APN 14 59,653,241 (GRCm39) missense probably damaging 1.00
IGL01695:Setdb2 APN 14 59,639,742 (GRCm39) utr 3 prime probably benign
IGL01720:Setdb2 APN 14 59,660,885 (GRCm39) missense possibly damaging 0.76
IGL02003:Setdb2 APN 14 59,650,939 (GRCm39) missense probably damaging 0.98
IGL02023:Setdb2 APN 14 59,668,607 (GRCm39) missense probably damaging 1.00
IGL02108:Setdb2 APN 14 59,639,764 (GRCm39) missense probably damaging 1.00
IGL02113:Setdb2 APN 14 59,639,764 (GRCm39) missense probably damaging 1.00
IGL02114:Setdb2 APN 14 59,639,764 (GRCm39) missense probably damaging 1.00
IGL02115:Setdb2 APN 14 59,639,764 (GRCm39) missense probably damaging 1.00
IGL02116:Setdb2 APN 14 59,639,764 (GRCm39) missense probably damaging 1.00
IGL02117:Setdb2 APN 14 59,639,764 (GRCm39) missense probably damaging 1.00
IGL02141:Setdb2 APN 14 59,639,764 (GRCm39) missense probably damaging 1.00
R0419:Setdb2 UTSW 14 59,644,193 (GRCm39) splice site probably null
R0610:Setdb2 UTSW 14 59,654,919 (GRCm39) missense possibly damaging 0.55
R0636:Setdb2 UTSW 14 59,644,153 (GRCm39) missense probably benign 0.40
R0890:Setdb2 UTSW 14 59,656,669 (GRCm39) missense possibly damaging 0.89
R0931:Setdb2 UTSW 14 59,660,945 (GRCm39) splice site probably benign
R1355:Setdb2 UTSW 14 59,654,890 (GRCm39) missense probably damaging 1.00
R1553:Setdb2 UTSW 14 59,654,934 (GRCm39) missense probably benign 0.04
R1968:Setdb2 UTSW 14 59,656,858 (GRCm39) missense probably damaging 1.00
R2472:Setdb2 UTSW 14 59,656,903 (GRCm39) missense possibly damaging 0.49
R2894:Setdb2 UTSW 14 59,663,916 (GRCm39) missense probably benign 0.00
R3919:Setdb2 UTSW 14 59,656,616 (GRCm39) missense probably damaging 1.00
R4609:Setdb2 UTSW 14 59,653,153 (GRCm39) missense probably damaging 1.00
R4629:Setdb2 UTSW 14 59,646,808 (GRCm39) missense probably benign 0.13
R4816:Setdb2 UTSW 14 59,651,095 (GRCm39) missense probably benign 0.05
R4864:Setdb2 UTSW 14 59,646,715 (GRCm39) missense probably benign 0.01
R4951:Setdb2 UTSW 14 59,639,752 (GRCm39) missense possibly damaging 0.72
R5040:Setdb2 UTSW 14 59,653,156 (GRCm39) missense probably damaging 0.99
R5245:Setdb2 UTSW 14 59,663,943 (GRCm39) missense probably null 0.00
R5358:Setdb2 UTSW 14 59,646,885 (GRCm39) missense probably benign 0.17
R5656:Setdb2 UTSW 14 59,656,567 (GRCm39) missense probably damaging 1.00
R5705:Setdb2 UTSW 14 59,660,814 (GRCm39) missense possibly damaging 0.80
R6103:Setdb2 UTSW 14 59,646,981 (GRCm39) splice site probably null
R6106:Setdb2 UTSW 14 59,660,898 (GRCm39) nonsense probably null
R6388:Setdb2 UTSW 14 59,662,146 (GRCm39) missense probably benign
R6431:Setdb2 UTSW 14 59,656,505 (GRCm39) missense probably damaging 1.00
R6494:Setdb2 UTSW 14 59,639,863 (GRCm39) missense probably benign 0.12
R6971:Setdb2 UTSW 14 59,653,189 (GRCm39) missense probably damaging 1.00
R7442:Setdb2 UTSW 14 59,656,700 (GRCm39) missense probably damaging 0.99
R7444:Setdb2 UTSW 14 59,660,794 (GRCm39) nonsense probably null
R7759:Setdb2 UTSW 14 59,656,813 (GRCm39) missense probably damaging 1.00
R8021:Setdb2 UTSW 14 59,660,833 (GRCm39) nonsense probably null
R8039:Setdb2 UTSW 14 59,639,824 (GRCm39) missense probably damaging 1.00
R8261:Setdb2 UTSW 14 59,651,141 (GRCm39) splice site probably benign
R8393:Setdb2 UTSW 14 59,650,180 (GRCm39) missense probably benign 0.04
R8513:Setdb2 UTSW 14 59,639,839 (GRCm39) missense probably damaging 1.00
R8700:Setdb2 UTSW 14 59,654,888 (GRCm39) missense probably damaging 1.00
R8707:Setdb2 UTSW 14 59,660,907 (GRCm39) nonsense probably null
R8940:Setdb2 UTSW 14 59,646,956 (GRCm39) missense probably damaging 1.00
R9217:Setdb2 UTSW 14 59,646,881 (GRCm39) missense possibly damaging 0.61
R9314:Setdb2 UTSW 14 59,650,240 (GRCm39) missense probably benign 0.02
R9336:Setdb2 UTSW 14 59,660,816 (GRCm39) missense unknown
R9442:Setdb2 UTSW 14 59,639,849 (GRCm39) missense probably damaging 1.00
R9525:Setdb2 UTSW 14 59,646,841 (GRCm39) missense probably benign 0.00
R9743:Setdb2 UTSW 14 59,651,002 (GRCm39) missense probably benign 0.00
X0017:Setdb2 UTSW 14 59,656,917 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16