Incidental Mutation 'R0344:Setdb1'
ID 26412
Institutional Source Beutler Lab
Gene Symbol Setdb1
Ensembl Gene ENSMUSG00000015697
Gene Name SET domain, bifurcated 1
Synonyms KMT1E, ESET
MMRRC Submission 038551-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0344 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 95230836-95264513 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 95233442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015841] [ENSMUST00000015858] [ENSMUST00000107170] [ENSMUST00000107171] [ENSMUST00000129267] [ENSMUST00000139866]
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 probably benign
Transcript: ENSMUST00000129267
SMART Domains Protein: ENSMUSP00000121110
Gene: ENSMUSG00000015714

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
HOX 71 132 3.08e-2 SMART
transmembrane domain 136 155 N/A INTRINSIC
transmembrane domain 175 197 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142398
Predicted Effect probably benign
Transcript: ENSMUST00000139866
SMART Domains Protein: ENSMUSP00000120190
Gene: ENSMUSG00000015714

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
HOX 71 132 3.08e-2 SMART
TLC 131 246 4.28e-11 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.3%
  • 20x: 93.6%
Validation Efficiency 99% (81/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553J12Rik T A 16: 88,617,189 (GRCm39) C29* probably null Het
Abca4 G A 3: 121,877,613 (GRCm39) C324Y probably damaging Het
Ablim2 T G 5: 35,994,277 (GRCm39) probably benign Het
Abr A T 11: 76,369,870 (GRCm39) V115E probably damaging Het
Adgrl2 C T 3: 148,571,231 (GRCm39) probably null Het
Aff3 A T 1: 38,243,013 (GRCm39) S936T probably benign Het
Agap3 T C 5: 24,656,200 (GRCm39) probably benign Het
Ahrr T A 13: 74,362,705 (GRCm39) S393C probably damaging Het
Amfr T C 8: 94,713,998 (GRCm39) probably null Het
Ankrd26 C A 6: 118,484,598 (GRCm39) probably null Het
Asxl3 G A 18: 22,650,668 (GRCm39) V886I probably benign Het
Atp5f1a C A 18: 77,867,895 (GRCm39) N356K probably damaging Het
AU021092 A T 16: 5,040,031 (GRCm39) M31K possibly damaging Het
Bicral A G 17: 47,124,978 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
C3ar1 T C 6: 122,827,731 (GRCm39) D162G probably benign Het
Camkk2 C T 5: 122,901,940 (GRCm39) C123Y probably benign Het
Casp8ap2 A T 4: 32,644,079 (GRCm39) I1051F probably damaging Het
Catsperg1 A T 7: 28,894,965 (GRCm39) V544E probably damaging Het
Cdc27 G A 11: 104,417,817 (GRCm39) probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Dennd6b T C 15: 89,080,432 (GRCm39) Q56R probably benign Het
Dmac2l T C 12: 69,787,663 (GRCm39) probably benign Het
Fbxl17 G A 17: 63,692,062 (GRCm39) probably benign Het
Fubp1 T C 3: 151,925,350 (GRCm39) V164A probably damaging Het
Gdap2 G A 3: 100,085,572 (GRCm39) G165S probably damaging Het
Gns A G 10: 121,219,328 (GRCm39) K352E probably benign Het
Gtf2ird2 C T 5: 134,220,088 (GRCm39) T22M probably damaging Het
Herc3 A G 6: 58,845,613 (GRCm39) probably benign Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Inpp1 A T 1: 52,838,513 (GRCm39) F45L probably damaging Het
Ipo4 T C 14: 55,863,399 (GRCm39) Q1073R possibly damaging Het
Itgae A G 11: 73,008,973 (GRCm39) K485E probably benign Het
Jak2 G A 19: 29,261,029 (GRCm39) V342I probably damaging Het
Kptn C A 7: 15,859,666 (GRCm39) Q297K probably damaging Het
Lims2 A G 18: 32,077,573 (GRCm39) E103G probably benign Het
Mthfr C G 4: 148,139,885 (GRCm39) S618W probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Nup133 A G 8: 124,644,185 (GRCm39) V727A possibly damaging Het
Oas2 T G 5: 120,881,152 (GRCm39) E313A probably damaging Het
Or10d4c G A 9: 39,558,646 (GRCm39) C208Y probably damaging Het
Or52b2 C A 7: 104,986,814 (GRCm39) M36I probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5m8 T A 2: 85,822,726 (GRCm39) C188* probably null Het
Or5p63 A T 7: 107,810,949 (GRCm39) Y262* probably null Het
Park7 A G 4: 150,992,806 (GRCm39) V20A possibly damaging Het
Pgap4 T C 4: 49,586,566 (GRCm39) T201A probably benign Het
Phldb1 C A 9: 44,612,964 (GRCm39) V919L probably benign Het
Pkhd1l1 C A 15: 44,460,407 (GRCm39) H4205Q probably benign Het
Plekhg3 G T 12: 76,613,040 (GRCm39) E449* probably null Het
Pramel26 A T 4: 143,537,338 (GRCm39) I331N probably damaging Het
Pstpip1 T C 9: 56,033,929 (GRCm39) V301A probably benign Het
Ptdss1 G A 13: 67,081,636 (GRCm39) R22H probably damaging Het
Ptprq A G 10: 107,541,443 (GRCm39) V361A probably benign Het
Ralgapa2 A T 2: 146,188,714 (GRCm39) V1309E possibly damaging Het
Rere T C 4: 150,695,438 (GRCm39) probably benign Het
Sbk3 T A 7: 4,970,404 (GRCm39) T322S possibly damaging Het
Scn9a T A 2: 66,335,354 (GRCm39) I1203L probably damaging Het
Sik3 C A 9: 46,120,109 (GRCm39) Q683K probably damaging Het
Slc24a5 A G 2: 124,927,621 (GRCm39) I307V probably benign Het
Smg6 A G 11: 74,820,647 (GRCm39) D306G probably damaging Het
Snx13 G A 12: 35,136,899 (GRCm39) W120* probably null Het
Snx5 A G 2: 144,099,128 (GRCm39) probably benign Het
Srsf5 T C 12: 80,994,298 (GRCm39) S76P probably benign Het
Stard6 A G 18: 70,629,186 (GRCm39) D31G probably damaging Het
Taf3 A G 2: 9,956,709 (GRCm39) M333T probably benign Het
Taf6 T G 5: 138,179,409 (GRCm39) I377L probably benign Het
Taf8 G T 17: 47,804,505 (GRCm39) N252K probably benign Het
Tfap2c A G 2: 172,393,423 (GRCm39) T113A probably benign Het
Tmtc4 C T 14: 123,215,572 (GRCm39) V25M probably damaging Het
Topbp1 T A 9: 103,205,886 (GRCm39) D841E probably damaging Het
Topbp1 T A 9: 103,185,932 (GRCm39) probably benign Het
Ttn A T 2: 76,542,833 (GRCm39) D33384E probably damaging Het
Unc13c T C 9: 73,838,067 (GRCm39) E928G probably benign Het
Vav1 T C 17: 57,603,090 (GRCm39) F81L probably damaging Het
Vmn2r63 A G 7: 42,553,042 (GRCm39) I738T probably damaging Het
Vmn2r87 C T 10: 130,315,806 (GRCm39) E87K probably damaging Het
Zfp229 A T 17: 21,964,822 (GRCm39) M351L 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
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
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 PCR Primer
(F):5'- TCATCACCGTCAGAGCCAGAAGAG -3'
(R):5'- CGAAACAAGATGCCAGTGTAAGTGC -3'

Sequencing Primer
(F):5'- GGTCTGGATGTCATCACTATCAAC -3'
(R):5'- CAGTAGCAACTTGACCCTCTC -3'
Posted On 2013-04-16