Incidental Mutation 'R5284:Setdb1'
ID 402924
Institutional Source Beutler Lab
Gene Symbol Setdb1
Ensembl Gene ENSMUSG00000015697
Gene Name SET domain, bifurcated 1
Synonyms KMT1E, ESET
MMRRC Submission 042841-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5284 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 95230836-95264513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 95234881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 941 (R941S)
Ref Sequence ENSEMBL: ENSMUSP00000102788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015841] [ENSMUST00000015858] [ENSMUST00000107170] [ENSMUST00000107171]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000015841
AA Change: R941S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697
AA Change: R941S

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 damaging
Transcript: ENSMUST00000107170
AA Change: R941S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697
AA Change: R941S

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 damaging
Transcript: ENSMUST00000107171
AA Change: R940S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697
AA Change: R940S

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T A 7: 45,630,483 (GRCm39) Q1259L probably benign Het
Arhgef26 T C 3: 62,327,052 (GRCm39) S522P probably damaging Het
Asic5 C T 3: 81,915,830 (GRCm39) P218L probably damaging Het
Atad1 T C 19: 32,664,671 (GRCm39) M248V probably benign Het
Bank1 T C 3: 135,769,915 (GRCm39) D522G probably damaging Het
Bod1l G A 5: 41,977,810 (GRCm39) S1168L probably benign Het
Cactin A G 10: 81,159,596 (GRCm39) D51G probably damaging Het
Camkk1 A G 11: 72,928,381 (GRCm39) D261G probably benign Het
Cep152 A G 2: 125,421,941 (GRCm39) S930P probably damaging Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Crim1 A T 17: 78,620,695 (GRCm39) R378S possibly damaging Het
Dcun1d4 T C 5: 73,680,025 (GRCm39) probably null Het
Dhdds A G 4: 133,707,523 (GRCm39) V187A probably benign Het
Ecpas C T 4: 58,836,172 (GRCm39) E723K possibly damaging Het
Egfem1 A G 3: 29,704,936 (GRCm39) E251G possibly damaging Het
Ehhadh T C 16: 21,582,094 (GRCm39) probably null Het
Ep400 A G 5: 110,815,990 (GRCm39) V2724A probably damaging Het
Epb41l4a T A 18: 33,931,853 (GRCm39) T581S probably damaging Het
Erg C T 16: 95,260,102 (GRCm39) M1I probably null Het
Fastkd1 T C 2: 69,542,532 (GRCm39) T92A probably benign Het
Gabpb1 T C 2: 126,494,277 (GRCm39) H116R possibly damaging Het
Gucy2c A G 6: 136,740,041 (GRCm39) L262P possibly damaging Het
Ifi203 C T 1: 173,756,274 (GRCm39) probably benign Het
Kcnk13 A C 12: 100,027,548 (GRCm39) I208L probably benign Het
Klhl7 A G 5: 24,364,615 (GRCm39) T550A probably benign Het
Krtap12-1 G T 10: 77,556,799 (GRCm39) C114F possibly damaging Het
Myh7b A G 2: 155,474,234 (GRCm39) T1650A probably benign Het
Myo19 T A 11: 84,776,098 (GRCm39) probably null Het
Nav1 C T 1: 135,377,701 (GRCm39) W1656* probably null Het
Nup188 A T 2: 30,220,647 (GRCm39) S907C probably damaging Het
Oplah A T 15: 76,190,759 (GRCm39) H125Q probably benign Het
Or6d12 T A 6: 116,493,513 (GRCm39) Y258* probably null Het
Pcnx1 A T 12: 81,965,803 (GRCm39) T657S probably benign Het
Phf14 C A 6: 11,997,119 (GRCm39) Q796K probably damaging Het
Plaa T C 4: 94,457,874 (GRCm39) I699V probably benign Het
Prex2 C A 1: 11,336,314 (GRCm39) S1504* probably null Het
Prpf18 G A 2: 4,650,481 (GRCm39) Q50* probably null Het
Rnf213 A G 11: 119,349,692 (GRCm39) Y3851C possibly damaging Het
Rpgrip1 A G 14: 52,386,733 (GRCm39) D726G probably damaging Het
Sacm1l T C 9: 123,415,485 (GRCm39) S487P probably damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Smg8 G A 11: 86,971,137 (GRCm39) S878L possibly damaging Het
Trpc4 T A 3: 54,187,368 (GRCm39) V440E probably damaging Het
Tsen15 A G 1: 152,247,624 (GRCm39) S123P probably damaging Het
Tspan12 G T 6: 21,835,466 (GRCm39) A69D probably damaging Het
Ubiad1 G A 4: 148,520,955 (GRCm39) T223M probably damaging Het
Ubtfl1 A T 9: 18,320,741 (GRCm39) K90* probably null Het
Wdr19 C T 5: 65,382,752 (GRCm39) T492I probably damaging Het
Zfp423 C T 8: 88,508,305 (GRCm39) D659N possibly damaging 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
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
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'- ACGAGGCCACCTTGTTCTTG -3'
(R):5'- GATGAGTACTTTGCAAATCTGGAC -3'

Sequencing Primer
(F):5'- GCCACCTTGTTCTTGGGTGTC -3'
(R):5'- TCTGGACCACATTGAAAGTGTG -3'
Posted On 2016-07-22