Incidental Mutation 'R8269:Suv39h1'
ID 639523
Institutional Source Beutler Lab
Gene Symbol Suv39h1
Ensembl Gene ENSMUSG00000039231
Gene Name suppressor of variegation 3-9 1
Synonyms KMT1A, DXHXS7466e, mIS6, Suv39h histone methyltransferase
MMRRC Submission 067693-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8269 (G1)
Quality Score 164.009
Status Validated
Chromosome X
Chromosomal Location 7927410-7940999 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 7937270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 129 (Q129K)
Ref Sequence ENSEMBL: ENSMUSP00000111301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115636] [ENSMUST00000115637] [ENSMUST00000115638]
AlphaFold O54864
Predicted Effect probably benign
Transcript: ENSMUST00000115636
AA Change: Q129K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000111299
Gene: ENSMUSG00000039231
AA Change: Q129K

DomainStartEndE-ValueType
CHROMO 42 94 3.32e-13 SMART
PreSET 132 227 6.75e-34 SMART
Blast:SET 243 277 7e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000115637
AA Change: Q130K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111300
Gene: ENSMUSG00000039231
AA Change: Q130K

DomainStartEndE-ValueType
CHROMO 43 95 3.32e-13 SMART
PreSET 133 228 6.75e-34 SMART
SET 244 373 8.61e-45 SMART
PostSET 397 413 5.26e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115638
AA Change: Q129K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111301
Gene: ENSMUSG00000039231
AA Change: Q129K

DomainStartEndE-ValueType
CHROMO 42 94 3.32e-13 SMART
PreSET 132 227 6.75e-34 SMART
SET 243 372 8.61e-45 SMART
PostSET 396 412 5.26e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene silencing. Loss of function of this gene disrupts heterochromatin formation and may cause chromosome instability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: About one third of mice either heterozygous or homozygous for a reporter/null allele develop late-onset B cell lymphomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 T C 14: 8,246,325 (GRCm38) T489A probably benign Het
Adgra3 A T 5: 50,121,079 (GRCm39) C850S probably damaging Het
Ago3 T A 4: 126,270,721 (GRCm39) K258* probably null Het
Akap11 G A 14: 78,750,818 (GRCm39) T523I Het
Amigo2 G T 15: 97,144,112 (GRCm39) N103K possibly damaging Het
Arfgap3 A C 15: 83,194,542 (GRCm39) S377A probably benign Het
Arhgap39 G T 15: 76,635,942 (GRCm39) Q98K probably benign Het
Atp1a4 T C 1: 172,059,892 (GRCm39) D779G probably damaging Het
Bckdhb T C 9: 84,004,417 (GRCm39) I388T probably benign Het
Ccpg1 G A 9: 72,913,001 (GRCm39) R179H probably damaging Het
Cd109 A G 9: 78,572,964 (GRCm39) K496R probably benign Het
Cnot1 A G 8: 96,478,389 (GRCm39) F979L probably damaging Het
Cyb5r1 T A 1: 134,334,803 (GRCm39) probably benign Het
D130040H23Rik T A 8: 69,755,800 (GRCm39) S402T probably benign Het
Dmtf1 A T 5: 9,182,500 (GRCm39) Y211* probably null Het
Dnah6 A G 6: 73,145,810 (GRCm39) probably null Het
Emc10 G T 7: 44,141,408 (GRCm39) Q227K possibly damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Exosc4 A T 15: 76,211,732 (GRCm39) I14L probably benign Het
Fat2 T C 11: 55,173,535 (GRCm39) T2393A possibly damaging Het
Flg2 A T 3: 93,109,187 (GRCm39) H405L possibly damaging Het
Gin1 T A 1: 97,710,929 (GRCm39) M204K probably damaging Het
Gm57858 A T 3: 36,100,862 (GRCm39) N103K possibly damaging Het
Gnal A G 18: 67,268,693 (GRCm39) D193G possibly damaging Het
Itpr3 G T 17: 27,312,258 (GRCm39) R554L possibly damaging Het
Lipc A G 9: 70,727,655 (GRCm39) L149P probably damaging Het
Lrrc37a A G 11: 103,388,724 (GRCm39) Y2234H unknown Het
Lsm14b T C 2: 179,674,407 (GRCm39) S317P probably damaging Het
Mapk4 G C 18: 74,063,622 (GRCm39) F533L probably damaging Het
Mgll T A 6: 88,790,930 (GRCm39) Y183* probably null Het
Mrrf T A 2: 36,037,973 (GRCm39) D81E possibly damaging Het
Ncan T A 8: 70,560,330 (GRCm39) Q879L probably benign Het
Nox4 T G 7: 86,955,930 (GRCm39) probably benign Het
Or4p18 A T 2: 88,232,381 (GRCm39) V299D probably damaging Het
Or5p67 A T 7: 107,922,776 (GRCm39) C36S probably benign Het
Pcdhb10 A G 18: 37,547,062 (GRCm39) K713E probably benign Het
Phkb A G 8: 86,756,211 (GRCm39) D835G probably benign Het
Pld1 A G 3: 28,079,388 (GRCm39) N63D probably benign Het
Pls1 G T 9: 95,644,023 (GRCm39) T491K probably damaging Het
Plscr1 A G 9: 92,145,095 (GRCm39) D35G unknown Het
Slc28a2b C T 2: 122,352,169 (GRCm39) H336Y probably damaging Het
Slc3a1 A G 17: 85,339,982 (GRCm39) K180R probably benign Het
Tbc1d8 A G 1: 39,465,169 (GRCm39) V73A probably benign Het
Tmem161a T A 8: 70,634,608 (GRCm39) V421E probably benign Het
Topbp1 C A 9: 103,205,792 (GRCm39) P810Q possibly damaging Het
Ttc28 G A 5: 111,425,325 (GRCm39) V1717M probably benign Het
Vmn2r55 T A 7: 12,404,585 (GRCm39) T273S possibly damaging Het
Vwa5b2 A G 16: 20,423,188 (GRCm39) D1062G probably damaging Het
Zcrb1 A G 15: 93,295,056 (GRCm39) Y27H probably benign Het
Zfp128 G A 7: 12,624,663 (GRCm39) G344R probably damaging Het
Other mutations in Suv39h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
Dimorphic UTSW X 7,929,138 (GRCm39) missense probably damaging 1.00
R6735:Suv39h1 UTSW X 7,929,138 (GRCm39) missense probably damaging 1.00
X0017:Suv39h1 UTSW X 7,929,210 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- AACTTGTGCAGGGATGCTC -3'
(R):5'- TCAGAAAACACCTGGGAGCC -3'

Sequencing Primer
(F):5'- TGGGTGCCAACAGACAGTC -3'
(R):5'- CACGGCAGAATCTAAAATGTATACG -3'
Posted On 2020-07-28