Incidental Mutation 'R1609:Setmar'
ID176672
Institutional Source Beutler Lab
Gene Symbol Setmar
Ensembl Gene ENSMUSG00000034639
Gene NameSET domain without mariner transposase fusion
Synonyms5830404F24Rik, Etet2
MMRRC Submission 039646-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1609 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location108065045-108077122 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108076115 bp
ZygosityHeterozygous
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]
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: 83,992,856 R380C possibly damaging Het
Allc A T 12: 28,553,994 D363E probably damaging Het
Anxa2 TCCC TCC 9: 69,489,754 probably null Het
App C A 16: 85,079,949 V185L probably damaging Het
Atpif1 T C 4: 132,530,767 D47G probably benign Het
Auh G A 13: 52,835,496 P308L probably benign Het
Cbr4 T A 8: 61,503,158 Y220N probably damaging Het
Ccdc6 C A 10: 70,167,047 Q203K probably damaging Het
Cntnap2 T C 6: 46,015,330 V397A probably benign Het
Dmxl2 A G 9: 54,409,263 I1613T possibly damaging Het
Dnah14 T C 1: 181,750,177 S3020P probably damaging Het
Dnah7b T C 1: 46,352,966 L3829P probably damaging Het
Fbxw25 C T 9: 109,663,510 C53Y probably benign Het
Fndc1 G T 17: 7,772,766 H699Q unknown Het
Gnaq G A 19: 16,383,254 V314M possibly damaging Het
Gpr158 A G 2: 21,783,293 T582A possibly damaging Het
Mapk1 T C 16: 17,038,306 probably benign Het
Med1 T A 11: 98,161,170 H456L possibly damaging Het
Myo6 G A 9: 80,288,217 probably null Het
Nipbl A G 15: 8,366,664 Y142H probably damaging Het
Olfr1058 A G 2: 86,385,494 I308T probably benign Het
Olfr1080 A C 2: 86,553,605 V173G probably damaging Het
Olfr1218 A T 2: 89,055,344 F27L probably benign Het
Pgbd5 T C 8: 124,434,011 D39G probably benign Het
Pnisr G T 4: 21,871,440 G387* probably null Het
Pnpla6 T C 8: 3,517,135 L61P probably damaging Het
Prkra A T 2: 76,633,592 I242N probably benign Het
Rp1 A G 1: 4,349,201 S563P probably damaging Het
Rtp3 A G 9: 110,986,017 probably benign Het
Sema3d A G 5: 12,541,056 T301A probably damaging Het
Sf3b2 A G 19: 5,295,033 probably benign Het
Taf4b A G 18: 14,835,881 K692E probably damaging Het
Tktl2 A G 8: 66,512,852 E354G probably benign Het
Tspan4 A G 7: 141,491,644 T135A probably damaging Het
Vmn1r22 G T 6: 57,900,748 Y81* probably null Het
Vmn2r31 T C 7: 7,384,889 E561G probably damaging Het
Xrn1 A T 9: 95,974,893 K389N probably benign Het
Zfp277 A T 12: 40,328,720 N379K probably damaging Het
Other mutations in Setmar
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0032:Setmar UTSW 6 108076416 nonsense probably null
R0403:Setmar UTSW 6 108075962 missense probably benign 0.00
R6006:Setmar UTSW 6 108076426 missense possibly damaging 0.92
R7169:Setmar UTSW 6 108065088 missense possibly damaging 0.93
R7733:Setmar UTSW 6 108076127 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGAATGCAATGTTCTGTGCCAGTG -3'
(R):5'- ATTTCTGTCTGCAAAGGGGCCG -3'

Sequencing Primer
(F):5'- TGCAGAAATAGGGTGGTCCAG -3'
(R):5'- CTGGCAAAATATCTTTGGCTGC -3'
Posted On2014-04-24