Incidental Mutation 'R0739:Smyd2'
ID 70607
Institutional Source Beutler Lab
Gene Symbol Smyd2
Ensembl Gene ENSMUSG00000026603
Gene Name SET and MYND domain containing 2
Synonyms Zmynd14, 1110020E07Rik, KMT3C
MMRRC Submission 038920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0739 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 189612689-189654560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 189621059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 220 (T220A)
Ref Sequence ENSEMBL: ENSMUSP00000027897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027897]
AlphaFold Q8R5A0
PDB Structure Crystal structure of histone lysine methyltransferase SmyD2 in complex with the cofactor product AdoHcy [X-RAY DIFFRACTION]
Crystal structure of histone lysine methyltransferase SmyD2 in complex with the methyltransferase inhibitor sinefungin [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027897
AA Change: T220A

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027897
Gene: ENSMUSG00000026603
AA Change: T220A

DomainStartEndE-ValueType
SET 7 247 2.88e-2 SMART
SCOP:d1elra_ 344 411 8e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144452
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193794
Meta Mutation Damage Score 0.1438 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased circulating total and LDL cholesterol levels and decreased circulating sodium and chloride levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Adcy6 T C 15: 98,496,260 (GRCm39) D593G probably benign Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
Cntn2 T A 1: 132,456,750 (GRCm39) I99F probably damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gabrr1 T C 4: 33,162,781 (GRCm39) M449T probably benign Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Klf11 T C 12: 24,710,247 (GRCm39) S432P probably damaging Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51aa5 T C 7: 103,166,931 (GRCm39) Y220C probably damaging Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pcyt2 A G 11: 120,502,870 (GRCm39) L257P probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Psmd2 C T 16: 20,474,079 (GRCm39) R261C probably benign Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Rhbdf2 A T 11: 116,490,987 (GRCm39) L655Q probably damaging Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Serpina3f T C 12: 104,184,612 (GRCm39) V252A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Srprb A T 9: 103,074,794 (GRCm39) L116H probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Zfp568 T A 7: 29,722,746 (GRCm39) C564S probably damaging Het
Other mutations in Smyd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Smyd2 APN 1 189,632,043 (GRCm39) missense probably damaging 1.00
IGL01060:Smyd2 APN 1 189,629,667 (GRCm39) missense possibly damaging 0.66
IGL01938:Smyd2 APN 1 189,621,079 (GRCm39) missense probably benign 0.05
IGL02113:Smyd2 APN 1 189,614,414 (GRCm39) missense probably damaging 0.99
IGL03075:Smyd2 APN 1 189,621,029 (GRCm39) missense probably damaging 0.98
R2108:Smyd2 UTSW 1 189,629,623 (GRCm39) missense probably damaging 1.00
R2497:Smyd2 UTSW 1 189,617,534 (GRCm39) missense possibly damaging 0.93
R4466:Smyd2 UTSW 1 189,614,349 (GRCm39) missense probably benign 0.09
R4605:Smyd2 UTSW 1 189,629,623 (GRCm39) missense probably damaging 1.00
R4672:Smyd2 UTSW 1 189,642,101 (GRCm39) missense probably damaging 1.00
R4872:Smyd2 UTSW 1 189,628,847 (GRCm39) missense probably damaging 1.00
R4963:Smyd2 UTSW 1 189,614,385 (GRCm39) missense probably damaging 1.00
R5419:Smyd2 UTSW 1 189,642,090 (GRCm39) nonsense probably null
R5660:Smyd2 UTSW 1 189,617,579 (GRCm39) missense possibly damaging 0.95
R6271:Smyd2 UTSW 1 189,616,049 (GRCm39) missense probably damaging 1.00
R8291:Smyd2 UTSW 1 189,632,288 (GRCm39) intron probably benign
R8820:Smyd2 UTSW 1 189,632,018 (GRCm39) missense probably benign 0.03
R9011:Smyd2 UTSW 1 189,628,833 (GRCm39) missense probably damaging 0.99
R9612:Smyd2 UTSW 1 189,612,983 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- CGAAGCAGGCAGCAATGTTTCAG -3'
(R):5'- AACCGTCTTACACAGGCTCAGCTC -3'

Sequencing Primer
(F):5'- ggtccccagtttaattcccag -3'
(R):5'- AGCTCCTCTTACTCATCAAACGG -3'
Posted On 2013-09-30