Incidental Mutation 'R8700:Setdb2'
ID 669019
Institutional Source Beutler Lab
Gene Symbol Setdb2
Ensembl Gene ENSMUSG00000071350
Gene Name SET domain, bifurcated 2
Synonyms KMT1F, LOC239122
MMRRC Submission 068554-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # R8700 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 59639458-59678329 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59654888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 318 (Y318C)
Ref Sequence ENSEMBL: ENSMUSP00000124696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095775] [ENSMUST00000161459]
AlphaFold Q8C267
Predicted Effect probably damaging
Transcript: ENSMUST00000095775
AA Change: Y334C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: Y334C

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 probably damaging
Transcript: ENSMUST00000161459
AA Change: Y318C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: Y318C

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (59/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik T A 11: 50,833,344 (GRCm39) D86V unknown Het
Abtb2 C A 2: 103,397,289 (GRCm39) T73K probably damaging Het
Akr1c14 T C 13: 4,131,157 (GRCm39) probably benign Het
Anapc7 T A 5: 122,560,669 (GRCm39) M10K probably damaging Het
Ano7 T G 1: 93,316,329 (GRCm39) I204S probably damaging Het
Arhgef39 T A 4: 43,496,715 (GRCm39) Q333L probably benign Het
Art5 T C 7: 101,748,862 (GRCm39) probably benign Het
Asah1 T C 8: 41,813,312 (GRCm39) T34A probably benign Het
Atp9b T C 18: 80,796,361 (GRCm39) E894G Het
Atxn7l3 A T 11: 102,184,747 (GRCm39) M126K possibly damaging Het
Cacna2d4 A G 6: 119,258,654 (GRCm39) D580G probably damaging Het
Calcoco2 T A 11: 95,994,330 (GRCm39) K74N probably benign Het
Ccdc163 T C 4: 116,571,348 (GRCm39) probably null Het
Cep164 T C 9: 45,686,667 (GRCm39) probably null Het
Chd7 T A 4: 8,833,892 (GRCm39) N1215K probably damaging Het
Chsy3 T C 18: 59,309,487 (GRCm39) Y247H probably damaging Het
Clec16a A G 16: 10,506,422 (GRCm39) Y714C probably damaging Het
Col12a1 A G 9: 79,527,371 (GRCm39) V2653A probably benign Het
Daam2 T A 17: 49,803,180 (GRCm39) K77N probably damaging Het
Dhx35 T A 2: 158,682,552 (GRCm39) M495K possibly damaging Het
Disp2 T A 2: 118,620,340 (GRCm39) C357* probably null Het
Dnah6 T A 6: 73,052,873 (GRCm39) probably benign Het
Dnah7a T G 1: 53,535,088 (GRCm39) D2724A possibly damaging Het
Entpd5 A T 12: 84,443,508 (GRCm39) D53E probably damaging Het
Fto T A 8: 92,249,461 (GRCm39) I431N probably damaging Het
Gabrr2 T C 4: 33,095,488 (GRCm39) I459T probably damaging Het
Gm5565 T A 5: 146,097,236 (GRCm39) I29F probably damaging Het
Gm9195 C T 14: 72,720,171 (GRCm39) G87R probably damaging Het
Grin2a T C 16: 9,397,412 (GRCm39) S892G probably benign Het
Katnip A G 7: 125,429,042 (GRCm39) probably benign Het
Mki67 T C 7: 135,307,436 (GRCm39) N106S Het
Myo16 T C 8: 10,463,172 (GRCm39) S580P unknown Het
Neo1 A G 9: 58,825,913 (GRCm39) S672P probably benign Het
Nxph3 A T 11: 95,401,706 (GRCm39) V236E probably damaging Het
Or10j7 G T 1: 173,011,429 (GRCm39) P191T probably benign Het
Or7e171-ps1 A C 9: 19,852,996 (GRCm39) L247V unknown Het
Pcdhb14 T C 18: 37,582,652 (GRCm39) V586A probably damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pja2 C T 17: 64,599,949 (GRCm39) D512N probably damaging Het
Ppfibp2 A G 7: 107,345,602 (GRCm39) T875A possibly damaging Het
Ppp3cc C A 14: 70,474,001 (GRCm39) C332F probably damaging Het
Pramel16 T A 4: 143,675,701 (GRCm39) H375L possibly damaging Het
Psg18 A T 7: 18,087,550 (GRCm39) V36D probably damaging Het
Ptprh A G 7: 4,567,190 (GRCm39) S561P probably damaging Het
Rhbdf2 G A 11: 116,498,230 (GRCm39) probably benign Het
Ripk2 T A 4: 16,158,422 (GRCm39) N61I possibly damaging Het
Shc1 A G 3: 89,334,740 (GRCm39) D533G possibly damaging Het
Sirpb1a T C 3: 15,476,419 (GRCm39) E193G probably damaging Het
Slc41a2 T C 10: 83,152,097 (GRCm39) E126G probably damaging Het
Spata31h1 A T 10: 82,127,859 (GRCm39) I1717N possibly damaging Het
Srms C A 2: 180,848,521 (GRCm39) A413S probably damaging Het
Tob2 G T 15: 81,735,802 (GRCm39) R56S probably damaging Het
Unc119 T C 11: 78,238,137 (GRCm39) I105T probably benign Het
Unc13c T C 9: 73,479,679 (GRCm39) I1742V probably benign Het
Vmn1r46 C T 6: 89,953,325 (GRCm39) T58I probably benign Het
Vmn2r81 G T 10: 79,129,517 (GRCm39) V803F probably damaging Het
Zfp365 T C 10: 67,745,535 (GRCm39) K81R possibly damaging Het
Zfp974 G T 7: 27,609,472 (GRCm39) T751K possibly damaging Het
Zfpl1 T C 19: 6,132,464 (GRCm39) N149S probably benign 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
IGL02148: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
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
Predicted Primers PCR Primer
(F):5'- ATGAAACCTGTAAGACTGTAGACC -3'
(R):5'- TATAGTCCTTGAGCAAAACCTCTC -3'

Sequencing Primer
(F):5'- TGGAGCTCACATGTAGCTCTAGC -3'
(R):5'- GTTGACAGCAAAGAATGCC -3'
Posted On 2021-04-30