Incidental Mutation 'R1297:Setdb1'
ID 158170
Institutional Source Beutler Lab
Gene Symbol Setdb1
Ensembl Gene ENSMUSG00000015697
Gene Name SET domain, bifurcated 1
Synonyms KMT1E, ESET
MMRRC Submission 039363-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1297 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 95230836-95264513 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 95257187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015841] [ENSMUST00000107170] [ENSMUST00000107171]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000015841
SMART Domains Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
low complexity region 121 131 N/A INTRINSIC
TUDOR 256 318 6.16e-8 SMART
TUDOR 346 401 1.03e-9 SMART
low complexity region 451 471 N/A INTRINSIC
low complexity region 496 516 N/A INTRINSIC
low complexity region 529 568 N/A INTRINSIC
MBD 615 690 4.63e-33 SMART
PreSET 697 804 1.75e-41 SMART
SET 821 1289 1.76e-41 SMART
PostSET 1292 1308 1.88e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107170
SMART Domains Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
low complexity region 121 131 N/A INTRINSIC
TUDOR 256 318 6.16e-8 SMART
TUDOR 346 401 1.03e-9 SMART
low complexity region 451 471 N/A INTRINSIC
low complexity region 496 516 N/A INTRINSIC
low complexity region 529 568 N/A INTRINSIC
MBD 615 690 4.63e-33 SMART
PreSET 697 804 1.75e-41 SMART
SET 821 1289 1.76e-41 SMART
PostSET 1292 1308 1.88e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107171
SMART Domains Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
low complexity region 121 131 N/A INTRINSIC
TUDOR 256 318 6.16e-8 SMART
TUDOR 346 401 1.03e-9 SMART
low complexity region 451 471 N/A INTRINSIC
low complexity region 495 515 N/A INTRINSIC
low complexity region 528 567 N/A INTRINSIC
MBD 614 689 4.63e-33 SMART
PreSET 696 803 1.75e-41 SMART
SET 820 1288 1.76e-41 SMART
PostSET 1291 1307 1.88e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199960
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous inactivation of this locus results in peri-implantation lethality. Inner cell mass growth is impaired in null blastocysts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,820,834 (GRCm39) N542D possibly damaging Het
Ap2b1 T A 11: 83,223,935 (GRCm39) W217R probably damaging Het
Cep290 T A 10: 100,374,962 (GRCm39) probably benign Het
Col27a1 G A 4: 63,183,868 (GRCm39) probably benign Het
Cyp2d12 A T 15: 82,441,887 (GRCm39) H109L probably benign Het
Dnah17 T C 11: 118,012,192 (GRCm39) probably benign Het
Golga3 G A 5: 110,352,709 (GRCm39) A867T probably benign Het
Gstt4 T A 10: 75,653,133 (GRCm39) N143I possibly damaging Het
Hdac2 G A 10: 36,862,370 (GRCm39) R78Q possibly damaging Het
Itsn2 T C 12: 4,750,378 (GRCm39) I1241T probably damaging Het
Kalrn T C 16: 33,836,868 (GRCm39) K2249R probably damaging Het
Klrg1 T A 6: 122,250,538 (GRCm39) I138F probably benign Het
Mast1 A G 8: 85,639,345 (GRCm39) V1328A probably benign Het
Mettl25 T C 10: 105,659,126 (GRCm39) S386G probably benign Het
Nme2 A T 11: 93,842,782 (GRCm39) N210K possibly damaging Het
Pgap1 T C 1: 54,567,682 (GRCm39) S388G possibly damaging Het
Pgk2 C A 17: 40,519,255 (GRCm39) V58L probably benign Het
Phf11 A T 14: 59,495,996 (GRCm39) H39Q probably benign Het
Pou6f1 T A 15: 100,476,186 (GRCm39) T292S probably damaging Het
Rbm5 G A 9: 107,621,441 (GRCm39) R15C probably damaging Het
Rnf215 T C 11: 4,089,806 (GRCm39) V273A possibly damaging Het
Rras A G 7: 44,670,003 (GRCm39) D145G probably damaging Het
Safb2 T C 17: 56,891,265 (GRCm39) probably benign Het
Sp5 A G 2: 70,306,873 (GRCm39) D186G probably benign Het
Thada A G 17: 84,559,863 (GRCm39) probably benign Het
Tle1 A G 4: 72,043,075 (GRCm39) V598A probably damaging Het
Tnrc6c A G 11: 117,624,529 (GRCm39) N947S possibly damaging Het
Tnxb T C 17: 34,929,140 (GRCm39) S2728P probably damaging Het
Vmn1r13 A G 6: 57,187,392 (GRCm39) R184G probably damaging Het
Wdr24 C T 17: 26,046,322 (GRCm39) T522I possibly damaging Het
Zfyve16 A G 13: 92,658,840 (GRCm39) V357A probably benign Het
Other mutations in Setdb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Setdb1 APN 3 95,245,888 (GRCm39) missense probably damaging 1.00
IGL00915:Setdb1 APN 3 95,254,099 (GRCm39) missense probably damaging 1.00
IGL01339:Setdb1 APN 3 95,245,891 (GRCm39) nonsense probably null
IGL01710:Setdb1 APN 3 95,246,164 (GRCm39) missense probably damaging 1.00
IGL02795:Setdb1 APN 3 95,234,684 (GRCm39) missense probably damaging 1.00
IGL02824:Setdb1 APN 3 95,247,215 (GRCm39) splice site probably benign
IGL02838:Setdb1 APN 3 95,244,579 (GRCm39) splice site probably null
IGL03014:Setdb1 UTSW 3 95,248,726 (GRCm39) missense probably damaging 1.00
R0077:Setdb1 UTSW 3 95,248,762 (GRCm39) missense probably damaging 1.00
R0344:Setdb1 UTSW 3 95,233,442 (GRCm39) unclassified probably benign
R0367:Setdb1 UTSW 3 95,257,192 (GRCm39) splice site probably benign
R0374:Setdb1 UTSW 3 95,232,164 (GRCm39) unclassified probably benign
R0411:Setdb1 UTSW 3 95,234,997 (GRCm39) missense probably damaging 1.00
R0501:Setdb1 UTSW 3 95,246,140 (GRCm39) missense probably benign 0.00
R0521:Setdb1 UTSW 3 95,246,140 (GRCm39) missense probably benign 0.00
R0616:Setdb1 UTSW 3 95,249,109 (GRCm39) missense probably damaging 1.00
R0828:Setdb1 UTSW 3 95,246,171 (GRCm39) missense probably damaging 1.00
R0990:Setdb1 UTSW 3 95,247,576 (GRCm39) missense probably benign 0.00
R1263:Setdb1 UTSW 3 95,234,922 (GRCm39) missense probably damaging 0.99
R1497:Setdb1 UTSW 3 95,234,778 (GRCm39) missense probably benign 0.44
R2885:Setdb1 UTSW 3 95,247,506 (GRCm39) missense probably benign
R2907:Setdb1 UTSW 3 95,234,512 (GRCm39) splice site probably benign
R3236:Setdb1 UTSW 3 95,246,065 (GRCm39) missense probably damaging 0.99
R3237:Setdb1 UTSW 3 95,246,065 (GRCm39) missense probably damaging 0.99
R3972:Setdb1 UTSW 3 95,248,649 (GRCm39) missense probably damaging 1.00
R4260:Setdb1 UTSW 3 95,234,808 (GRCm39) missense probably damaging 0.96
R5284:Setdb1 UTSW 3 95,234,881 (GRCm39) missense probably damaging 1.00
R5484:Setdb1 UTSW 3 95,244,569 (GRCm39) missense probably damaging 1.00
R5955:Setdb1 UTSW 3 95,246,153 (GRCm39) missense probably damaging 1.00
R6542:Setdb1 UTSW 3 95,247,618 (GRCm39) missense probably damaging 1.00
R6610:Setdb1 UTSW 3 95,235,888 (GRCm39) missense probably damaging 1.00
R6632:Setdb1 UTSW 3 95,231,460 (GRCm39) missense probably damaging 1.00
R6785:Setdb1 UTSW 3 95,233,712 (GRCm39) missense probably benign 0.09
R7176:Setdb1 UTSW 3 95,244,458 (GRCm39) critical splice donor site probably null
R7250:Setdb1 UTSW 3 95,261,852 (GRCm39) critical splice donor site probably null
R7259:Setdb1 UTSW 3 95,247,224 (GRCm39) missense probably benign 0.08
R7282:Setdb1 UTSW 3 95,245,985 (GRCm39) missense probably damaging 1.00
R7497:Setdb1 UTSW 3 95,249,139 (GRCm39) missense probably damaging 1.00
R7553:Setdb1 UTSW 3 95,254,076 (GRCm39) missense probably damaging 1.00
R7921:Setdb1 UTSW 3 95,233,710 (GRCm39) missense possibly damaging 0.85
R8022:Setdb1 UTSW 3 95,254,396 (GRCm39) missense probably damaging 1.00
R8022:Setdb1 UTSW 3 95,245,910 (GRCm39) missense probably damaging 1.00
R8189:Setdb1 UTSW 3 95,254,022 (GRCm39) missense probably damaging 1.00
R8558:Setdb1 UTSW 3 95,261,979 (GRCm39) missense possibly damaging 0.88
R8693:Setdb1 UTSW 3 95,249,041 (GRCm39) missense probably damaging 0.99
R8812:Setdb1 UTSW 3 95,263,371 (GRCm39) missense probably damaging 1.00
R8940:Setdb1 UTSW 3 95,263,483 (GRCm39) missense probably benign
R9207:Setdb1 UTSW 3 95,246,113 (GRCm39) missense possibly damaging 0.82
R9509:Setdb1 UTSW 3 95,261,900 (GRCm39) missense possibly damaging 0.48
R9784:Setdb1 UTSW 3 95,233,173 (GRCm39) missense probably damaging 1.00
Z1177:Setdb1 UTSW 3 95,245,841 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-02-18