Incidental Mutation 'R2907:Setdb1'
ID 261682
Institutional Source Beutler Lab
Gene Symbol Setdb1
Ensembl Gene ENSMUSG00000015697
Gene Name SET domain, bifurcated 1
Synonyms KMT1E, ESET
MMRRC Submission 040494-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2907 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 95230836-95264513 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 95234512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015841] [ENSMUST00000015858] [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: ENSMUST00000015858
SMART Domains Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
HOX 71 132 3.08e-2 SMART
TLC 131 332 1.17e-81 SMART
low complexity region 337 360 N/A INTRINSIC
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: ENSMUST00000134702
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 97% (37/38)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,565,559 (GRCm39) E385G probably damaging Het
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Arap3 G A 18: 38,123,580 (GRCm39) P452L possibly damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Asns A G 6: 7,675,506 (GRCm39) S499P probably benign Het
Aspn G T 13: 49,705,374 (GRCm39) V79F probably damaging Het
Astn2 A G 4: 65,563,093 (GRCm39) I844T possibly damaging Het
Asxl3 A T 18: 22,650,330 (GRCm39) H773L possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bcl6 G A 16: 23,786,869 (GRCm39) R641W probably damaging Het
Csmd3 T A 15: 47,874,449 (GRCm39) I612F probably damaging Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
H2-T3 G A 17: 36,498,347 (GRCm39) R233C possibly damaging Het
Igfbp4 A G 11: 98,932,377 (GRCm39) probably benign Het
Igkv16-104 T C 6: 68,402,911 (GRCm39) I68T probably damaging Het
Kansl1 T A 11: 104,315,286 (GRCm39) S251C possibly damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Mcpt1 T C 14: 56,257,580 (GRCm39) V242A probably damaging Het
Nek10 C A 14: 14,980,613 (GRCm38) Q990K possibly damaging Het
Nlrp4d A T 7: 10,112,354 (GRCm39) V605E probably benign Het
Or10w1 C T 19: 13,632,611 (GRCm39) P268S possibly damaging Het
Or5an1b T C 19: 12,300,032 (GRCm39) D53G probably damaging Het
Or5d46 T C 2: 88,170,827 (GRCm39) I306T probably benign Het
Osbpl1a A G 18: 13,004,129 (GRCm39) probably benign Het
Otud4 T A 8: 80,399,697 (GRCm39) S803T probably benign Het
Pax9 C T 12: 56,756,529 (GRCm39) T289I probably benign Het
Pcdha5 A C 18: 37,093,868 (GRCm39) I126L possibly damaging Het
Psmd4 G T 3: 94,941,273 (GRCm39) A55E probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Sdr42e1 G A 8: 118,389,511 (GRCm39) L377F probably damaging Het
Uba3 T C 6: 97,180,514 (GRCm39) E21G probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Zfp113 T C 5: 138,143,219 (GRCm39) N344D probably benign Het
Zfp738 T C 13: 67,818,231 (GRCm39) I587V 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
R1297:Setdb1 UTSW 3 95,257,187 (GRCm39) splice site probably benign
R1497:Setdb1 UTSW 3 95,234,778 (GRCm39) missense probably benign 0.44
R2885:Setdb1 UTSW 3 95,247,506 (GRCm39) missense 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 PCR Primer
(F):5'- GTCTTGAAAGGGGTAAGGCC -3'
(R):5'- TGCAATAGTGTCAGTGAAGGTG -3'

Sequencing Primer
(F):5'- GTAAGGCCCTGTGTTTCAATC -3'
(R):5'- AAGGTGGATTTGCTGACTCTGACAG -3'
Posted On 2015-01-23