Incidental Mutation 'R7759:Setdb2'
ID 597757
Institutional Source Beutler Lab
Gene Symbol Setdb2
Ensembl Gene ENSMUSG00000071350
Gene Name SET domain, bifurcated 2
Synonyms KMT1F, LOC239122
MMRRC Submission 045815-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.579) question?
Stock # R7759 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 59402009-59440884 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 59419364 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 168 (T168K)
Ref Sequence ENSEMBL: ENSMUSP00000124696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095775] [ENSMUST00000111253] [ENSMUST00000161459]
AlphaFold Q8C267
Predicted Effect probably damaging
Transcript: ENSMUST00000095775
AA Change: T184K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: T184K

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 benign
Transcript: ENSMUST00000111253
Predicted Effect probably damaging
Transcript: ENSMUST00000161459
AA Change: T168K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: T168K

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G T 16: 4,864,650 (GRCm38) G215V probably benign Het
Adamts1 C A 16: 85,797,795 (GRCm38) G652C probably damaging Het
Adck1 G A 12: 88,402,117 (GRCm38) A122T possibly damaging Het
Akap1 A C 11: 88,845,833 (GRCm38) M34R probably damaging Het
Apc2 C T 10: 80,311,196 (GRCm38) R695C probably damaging Het
Apon T A 10: 128,254,515 (GRCm38) W21R probably benign Het
Arhgef16 T C 4: 154,286,975 (GRCm38) T254A probably benign Het
Arid5b T A 10: 68,097,802 (GRCm38) S757C probably damaging Het
B020004C17Rik A C 14: 57,016,785 (GRCm38) I122L possibly damaging Het
Bckdhb T G 9: 84,010,326 (GRCm38) V270G probably damaging Het
Cacna1d A G 14: 30,099,188 (GRCm38) Y1146H probably benign Het
Carmil2 A G 8: 105,697,036 (GRCm38) D1214G possibly damaging Het
Ccdc142 T C 6: 83,107,931 (GRCm38) V636A probably benign Het
Chd9 T C 8: 90,977,550 (GRCm38) probably null Het
Csmd3 A G 15: 47,698,173 (GRCm38) S1336P Het
Cubn A G 2: 13,348,150 (GRCm38) Y1926H probably damaging Het
Dock4 A T 12: 40,817,736 (GRCm38) D1437V probably damaging Het
Eme1 A T 11: 94,645,840 (GRCm38) Y504* probably null Het
Enah G A 1: 181,918,444 (GRCm38) A687V unknown Het
Endou A C 15: 97,713,866 (GRCm38) V339G probably damaging Het
Ephb6 G A 6: 41,614,605 (GRCm38) R232H probably benign Het
Ephx2 G A 14: 66,089,519 (GRCm38) A409V possibly damaging Het
Esd T A 14: 74,745,567 (GRCm38) C219* probably null Het
Fscb A T 12: 64,474,092 (GRCm38) M200K probably benign Het
Gabra6 A T 11: 42,317,681 (GRCm38) V108D probably damaging Het
Gm11555 A G 11: 99,649,742 (GRCm38) V137A unknown Het
Gpld1 A G 13: 24,962,400 (GRCm38) D209G probably damaging Het
Ikzf1 T A 11: 11,769,256 (GRCm38) I408N probably damaging Het
Itgb4 A G 11: 116,003,710 (GRCm38) R1364G possibly damaging Het
Kif26b A C 1: 178,678,944 (GRCm38) K195T probably damaging Het
Mfsd12 T C 10: 81,363,593 (GRCm38) W440R probably benign Het
Mtrr C T 13: 68,570,027 (GRCm38) E373K probably damaging Het
Mug2 T A 6: 122,081,358 (GRCm38) V1293E probably damaging Het
Myof C A 19: 37,939,898 (GRCm38) A1068S probably benign Het
Ncam2 A G 16: 81,615,784 (GRCm38) D720G probably damaging Het
Nova2 G T 7: 18,958,251 (GRCm38) G435V Het
Oacyl T A 18: 65,710,560 (GRCm38) D109E probably damaging Het
Or2y1g A T 11: 49,280,636 (GRCm38) M163L probably benign Het
Or56a4 G A 7: 105,157,025 (GRCm38) S219F probably damaging Het
Pdcd11 G A 19: 47,113,198 (GRCm38) V941M possibly damaging Het
Pdzd8 C A 19: 59,299,926 (GRCm38) R1014L probably damaging Het
Ppm1h T G 10: 122,904,113 (GRCm38) D364E probably benign Het
Rigi C A 4: 40,225,104 (GRCm38) A298S probably damaging Het
Rp1 T C 1: 4,344,884 (GRCm38) N2002D probably benign Het
Sall1 C T 8: 89,042,351 (GRCm38) probably null Het
Scn10a C T 9: 119,648,132 (GRCm38) W728* probably null Het
Sgms1 T C 19: 32,159,876 (GRCm38) I97V probably benign Het
Slc8a3 A T 12: 81,314,551 (GRCm38) M498K probably benign Het
Smpd4 A T 16: 17,638,633 (GRCm38) E362D probably damaging Het
Ssc5d A T 7: 4,937,530 (GRCm38) K881* probably null Het
Strn4 A G 7: 16,830,384 (GRCm38) E313G probably damaging Het
Tas2r113 A T 6: 132,893,927 (GRCm38) N306I possibly damaging Het
Tdrd6 G T 17: 43,624,839 (GRCm38) R1773S probably benign Het
Thbs2 T C 17: 14,677,059 (GRCm38) E729G probably damaging Het
Tnfrsf23 G A 7: 143,670,835 (GRCm38) T135I probably damaging Het
Tollip A G 7: 141,884,539 (GRCm38) M218T probably benign Het
Tyk2 A T 9: 21,120,258 (GRCm38) probably null Het
Ubr2 G A 17: 46,986,048 (GRCm38) R269C probably damaging Het
Uggt1 A T 1: 36,146,725 (GRCm38) M1459K possibly damaging Het
Upf1 A G 8: 70,334,080 (GRCm38) V929A probably benign Het
Usp48 T C 4: 137,594,452 (GRCm38) S24P probably benign Het
Vmn1r214 G A 13: 23,034,461 (GRCm38) E42K not run Het
Vmn1r83 G T 7: 12,321,433 (GRCm38) D232E probably benign Het
Vmn2r25 C T 6: 123,823,380 (GRCm38) V668I probably damaging Het
Vmn2r6 A G 3: 64,556,570 (GRCm38) I281T probably damaging Het
Ywhag A T 5: 135,911,189 (GRCm38) Y184N probably damaging Het
Zdbf2 A C 1: 63,308,376 (GRCm38) E1971D possibly damaging Het
Zfp568 G A 7: 30,023,414 (GRCm38) A595T possibly damaging Het
Zfy2 T C Y: 2,117,083 (GRCm38) D248G probably benign Het
Other mutations in Setdb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Setdb2 APN 14 59,415,792 (GRCm38) missense probably damaging 1.00
IGL01695:Setdb2 APN 14 59,402,293 (GRCm38) utr 3 prime probably benign
IGL01720:Setdb2 APN 14 59,423,436 (GRCm38) missense possibly damaging 0.76
IGL02003:Setdb2 APN 14 59,413,490 (GRCm38) missense probably damaging 0.98
IGL02023:Setdb2 APN 14 59,431,158 (GRCm38) missense probably damaging 1.00
IGL02108:Setdb2 APN 14 59,402,315 (GRCm38) missense probably damaging 1.00
IGL02113:Setdb2 APN 14 59,402,315 (GRCm38) missense probably damaging 1.00
IGL02114:Setdb2 APN 14 59,402,315 (GRCm38) missense probably damaging 1.00
IGL02115:Setdb2 APN 14 59,402,315 (GRCm38) missense probably damaging 1.00
IGL02116:Setdb2 APN 14 59,402,315 (GRCm38) missense probably damaging 1.00
IGL02117:Setdb2 APN 14 59,402,315 (GRCm38) missense probably damaging 1.00
IGL02141:Setdb2 APN 14 59,402,315 (GRCm38) missense probably damaging 1.00
IGL02148:Setdb2 APN 14 59,402,315 (GRCm38) missense probably damaging 1.00
R0419:Setdb2 UTSW 14 59,406,744 (GRCm38) splice site probably null
R0610:Setdb2 UTSW 14 59,417,470 (GRCm38) missense possibly damaging 0.55
R0636:Setdb2 UTSW 14 59,406,704 (GRCm38) missense probably benign 0.40
R0890:Setdb2 UTSW 14 59,419,220 (GRCm38) missense possibly damaging 0.89
R0931:Setdb2 UTSW 14 59,423,496 (GRCm38) splice site probably benign
R1355:Setdb2 UTSW 14 59,417,441 (GRCm38) missense probably damaging 1.00
R1553:Setdb2 UTSW 14 59,417,485 (GRCm38) missense probably benign 0.04
R1968:Setdb2 UTSW 14 59,419,409 (GRCm38) missense probably damaging 1.00
R2472:Setdb2 UTSW 14 59,419,454 (GRCm38) missense possibly damaging 0.49
R2894:Setdb2 UTSW 14 59,426,467 (GRCm38) missense probably benign 0.00
R3919:Setdb2 UTSW 14 59,419,167 (GRCm38) missense probably damaging 1.00
R4609:Setdb2 UTSW 14 59,415,704 (GRCm38) missense probably damaging 1.00
R4629:Setdb2 UTSW 14 59,409,359 (GRCm38) missense probably benign 0.13
R4816:Setdb2 UTSW 14 59,413,646 (GRCm38) missense probably benign 0.05
R4864:Setdb2 UTSW 14 59,409,266 (GRCm38) missense probably benign 0.01
R4951:Setdb2 UTSW 14 59,402,303 (GRCm38) missense possibly damaging 0.72
R5040:Setdb2 UTSW 14 59,415,707 (GRCm38) missense probably damaging 0.99
R5245:Setdb2 UTSW 14 59,426,494 (GRCm38) missense probably null 0.00
R5358:Setdb2 UTSW 14 59,409,436 (GRCm38) missense probably benign 0.17
R5656:Setdb2 UTSW 14 59,419,118 (GRCm38) missense probably damaging 1.00
R5705:Setdb2 UTSW 14 59,423,365 (GRCm38) missense possibly damaging 0.80
R6103:Setdb2 UTSW 14 59,409,532 (GRCm38) splice site probably null
R6106:Setdb2 UTSW 14 59,423,449 (GRCm38) nonsense probably null
R6388:Setdb2 UTSW 14 59,424,697 (GRCm38) missense probably benign
R6431:Setdb2 UTSW 14 59,419,056 (GRCm38) missense probably damaging 1.00
R6494:Setdb2 UTSW 14 59,402,414 (GRCm38) missense probably benign 0.12
R6971:Setdb2 UTSW 14 59,415,740 (GRCm38) missense probably damaging 1.00
R7442:Setdb2 UTSW 14 59,419,251 (GRCm38) missense probably damaging 0.99
R7444:Setdb2 UTSW 14 59,423,345 (GRCm38) nonsense probably null
R8021:Setdb2 UTSW 14 59,423,384 (GRCm38) nonsense probably null
R8039:Setdb2 UTSW 14 59,402,375 (GRCm38) missense probably damaging 1.00
R8261:Setdb2 UTSW 14 59,413,692 (GRCm38) splice site probably benign
R8393:Setdb2 UTSW 14 59,412,731 (GRCm38) missense probably benign 0.04
R8513:Setdb2 UTSW 14 59,402,390 (GRCm38) missense probably damaging 1.00
R8700:Setdb2 UTSW 14 59,417,439 (GRCm38) missense probably damaging 1.00
R8707:Setdb2 UTSW 14 59,423,458 (GRCm38) nonsense probably null
R8940:Setdb2 UTSW 14 59,409,507 (GRCm38) missense probably damaging 1.00
R9217:Setdb2 UTSW 14 59,409,432 (GRCm38) missense possibly damaging 0.61
R9314:Setdb2 UTSW 14 59,412,791 (GRCm38) missense probably benign 0.02
R9336:Setdb2 UTSW 14 59,423,367 (GRCm38) missense unknown
R9442:Setdb2 UTSW 14 59,402,400 (GRCm38) missense probably damaging 1.00
R9525:Setdb2 UTSW 14 59,409,392 (GRCm38) missense probably benign 0.00
R9743:Setdb2 UTSW 14 59,413,553 (GRCm38) missense probably benign 0.00
X0017:Setdb2 UTSW 14 59,419,468 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCGACACTGATTCCACTCCATTAC -3'
(R):5'- CCTCCCTGTGAAGAATAAAGCTG -3'

Sequencing Primer
(F):5'- CCACGTCAGAAACAACTTCATTTTG -3'
(R):5'- TGACAATTTAGTGAAAAAGGAAGCCC -3'
Posted On 2019-11-26