Incidental Mutation 'R1609:Setmar'
ID 176672
Institutional Source Beutler Lab
Gene Symbol Setmar
Ensembl Gene ENSMUSG00000034639
Gene Name SET domain without mariner transposase fusion
Synonyms 5830404F24Rik, Etet2
MMRRC Submission 039646-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1609 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 108042006-108054083 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108053076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 190 (D190G)
Ref Sequence ENSEMBL: ENSMUSP00000048225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049246] [ENSMUST00000138140]
AlphaFold Q80UJ9
Predicted Effect probably benign
Transcript: ENSMUST00000049246
AA Change: D190G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000048225
Gene: ENSMUSG00000034639
AA Change: D190G

DomainStartEndE-ValueType
low complexity region 7 22 N/A INTRINSIC
Pfam:Pre-SET 29 132 3.7e-14 PFAM
SET 140 270 6.05e-40 SMART
PostSET 284 300 1.69e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138140
SMART Domains Protein: ENSMUSP00000145263
Gene: ENSMUSG00000034639

DomainStartEndE-ValueType
low complexity region 7 22 N/A INTRINSIC
Meta Mutation Damage Score 0.0893 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.1%
Validation Efficiency 96% (49/51)
MGI Phenotype FUNCTION: This gene encodes a histone-lysine N-methyltransferase that may be involved in the methylation of histone H3. In anthropoid primates this gene is a fusion gene of a SET histone-lysine N-methyltransferase and a mariner (MAR) family transposase. In all other species this gene contains only the SET domain. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot2 C T 12: 84,039,630 (GRCm39) R380C possibly damaging Het
Allc A T 12: 28,603,993 (GRCm39) D363E probably damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
App C A 16: 84,876,837 (GRCm39) V185L probably damaging Het
Atp5if1 T C 4: 132,258,078 (GRCm39) D47G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cbr4 T A 8: 61,956,192 (GRCm39) Y220N probably damaging Het
Ccdc6 C A 10: 70,002,877 (GRCm39) Q203K probably damaging Het
Cntnap2 T C 6: 45,992,264 (GRCm39) V397A probably benign Het
Dmxl2 A G 9: 54,316,547 (GRCm39) I1613T possibly damaging Het
Dnah14 T C 1: 181,577,742 (GRCm39) S3020P probably damaging Het
Dnah7b T C 1: 46,392,126 (GRCm39) L3829P probably damaging Het
Fbxw25 C T 9: 109,492,578 (GRCm39) C53Y probably benign Het
Fndc1 G T 17: 7,991,598 (GRCm39) H699Q unknown Het
Gnaq G A 19: 16,360,618 (GRCm39) V314M possibly damaging Het
Gpr158 A G 2: 21,788,104 (GRCm39) T582A possibly damaging Het
Mapk1 T C 16: 16,856,170 (GRCm39) probably benign Het
Med1 T A 11: 98,051,996 (GRCm39) H456L possibly damaging Het
Myo6 G A 9: 80,195,499 (GRCm39) probably null Het
Nipbl A G 15: 8,396,148 (GRCm39) Y142H probably damaging Het
Or4c113 A T 2: 88,885,688 (GRCm39) F27L probably benign Het
Or8k24 A G 2: 86,215,838 (GRCm39) I308T probably benign Het
Or8k33 A C 2: 86,383,949 (GRCm39) V173G probably damaging Het
Pgbd5 T C 8: 125,160,750 (GRCm39) D39G probably benign Het
Pnisr G T 4: 21,871,440 (GRCm39) G387* probably null Het
Pnpla6 T C 8: 3,567,135 (GRCm39) L61P probably damaging Het
Prkra A T 2: 76,463,936 (GRCm39) I242N probably benign Het
Rp1 A G 1: 4,419,424 (GRCm39) S563P probably damaging Het
Rtp3 A G 9: 110,815,085 (GRCm39) probably benign Het
Sema3d A G 5: 12,591,023 (GRCm39) T301A probably damaging Het
Sf3b2 A G 19: 5,345,061 (GRCm39) probably benign Het
Taf4b A G 18: 14,968,938 (GRCm39) K692E probably damaging Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tspan4 A G 7: 141,071,557 (GRCm39) T135A probably damaging Het
Vmn1r22 G T 6: 57,877,733 (GRCm39) Y81* probably null Het
Vmn2r31 T C 7: 7,387,888 (GRCm39) E561G probably damaging Het
Xrn1 A T 9: 95,856,946 (GRCm39) K389N probably benign Het
Zfp277 A T 12: 40,378,719 (GRCm39) N379K probably damaging Het
Other mutations in Setmar
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0032:Setmar UTSW 6 108,053,377 (GRCm39) nonsense probably null
R0403:Setmar UTSW 6 108,052,923 (GRCm39) missense probably benign 0.00
R6006:Setmar UTSW 6 108,053,387 (GRCm39) missense possibly damaging 0.92
R7169:Setmar UTSW 6 108,042,049 (GRCm39) missense possibly damaging 0.93
R7733:Setmar UTSW 6 108,053,088 (GRCm39) missense probably damaging 1.00
R8401:Setmar UTSW 6 108,053,124 (GRCm39) missense probably benign 0.05
R8501:Setmar UTSW 6 108,052,822 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGAATGCAATGTTCTGTGCCAGTG -3'
(R):5'- ATTTCTGTCTGCAAAGGGGCCG -3'

Sequencing Primer
(F):5'- TGCAGAAATAGGGTGGTCCAG -3'
(R):5'- CTGGCAAAATATCTTTGGCTGC -3'
Posted On 2014-04-24