Incidental Mutation 'IGL02113:Smyd2'
ID 280235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smyd2
Ensembl Gene ENSMUSG00000026603
Gene Name SET and MYND domain containing 2
Synonyms Zmynd14, 1110020E07Rik, KMT3C
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02113
Quality Score
Status
Chromosome 1
Chromosomal Location 189612689-189654560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 189614414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 371 (S371R)
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 probably damaging
Transcript: ENSMUST00000027897
AA Change: S371R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027897
Gene: ENSMUSG00000026603
AA Change: S371R

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: ENSMUST00000132289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144452
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193794
Coding Region Coverage
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,904,127 (GRCm39) H726L possibly damaging Het
Aqr A T 2: 113,950,508 (GRCm39) Y900* probably null Het
Atp11a G T 8: 12,915,048 (GRCm39) R1155S probably benign Het
Bahd1 A G 2: 118,747,686 (GRCm39) D435G probably benign Het
Brca2 A G 5: 150,464,444 (GRCm39) T1403A possibly damaging Het
Cc2d2a T A 5: 43,842,590 (GRCm39) probably null Het
Cog7 A G 7: 121,524,703 (GRCm39) I697T probably damaging Het
Dclre1a A G 19: 56,529,964 (GRCm39) V791A probably damaging Het
Dgki A G 6: 36,890,560 (GRCm39) probably benign Het
Dpyd A G 3: 118,792,868 (GRCm39) Y525C probably benign Het
Eepd1 T C 9: 25,394,009 (GRCm39) L91P probably damaging Het
Foxf1 T A 8: 121,811,304 (GRCm39) L56H probably damaging Het
Fry A T 5: 150,323,070 (GRCm39) M1074L probably benign Het
Gbx1 T C 5: 24,709,874 (GRCm39) T324A probably damaging Het
Gfpt1 T A 6: 87,064,349 (GRCm39) N646K probably benign Het
Gm10258 C T 3: 30,322,542 (GRCm39) probably benign Het
Gm12887 T C 4: 121,473,692 (GRCm39) M53V probably benign Het
Hoxa11 C T 6: 52,222,297 (GRCm39) G135S probably damaging Het
Mettl6 A T 14: 31,204,788 (GRCm39) Y211* probably null Het
Moxd2 T C 6: 40,862,338 (GRCm39) I160M probably benign Het
Mphosph10 G A 7: 64,026,555 (GRCm39) probably benign Het
Mrpl19 T A 6: 81,942,896 (GRCm39) M5L probably benign Het
Nbea A G 3: 55,899,913 (GRCm39) V1412A probably benign Het
Nceh1 G T 3: 27,277,040 (GRCm39) S121I probably damaging Het
Ntan1 A G 16: 13,653,008 (GRCm39) T217A probably damaging Het
Ogfod1 C T 8: 94,790,841 (GRCm39) A504V probably damaging Het
Or52r1c A T 7: 102,735,057 (GRCm39) I111L possibly damaging Het
Pde3b G A 7: 114,126,141 (GRCm39) V792M probably damaging Het
Pde9a A T 17: 31,678,944 (GRCm39) M262L probably benign Het
Pi4ka A G 16: 17,191,279 (GRCm39) V206A probably benign Het
Pkp1 A T 1: 135,811,652 (GRCm39) N406K possibly damaging Het
Rcn3 A G 7: 44,732,762 (GRCm39) I302T probably damaging Het
Rfx6 A G 10: 51,554,108 (GRCm39) Q68R probably benign Het
Rpgrip1 A G 14: 52,371,301 (GRCm39) D340G possibly damaging Het
Scn10a C T 9: 119,438,956 (GRCm39) G1638S probably damaging Het
Serpinb9f A T 13: 33,518,451 (GRCm39) H317L probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc40a1 A G 1: 45,950,054 (GRCm39) I466T probably benign Het
Snap47 A C 11: 59,319,262 (GRCm39) I292S probably damaging Het
Tbx4 A G 11: 85,803,090 (GRCm39) E322G possibly damaging Het
Tg A G 15: 66,577,179 (GRCm39) T1501A probably benign Het
Tmem259 A G 10: 79,814,543 (GRCm39) V300A probably benign Het
Usp7 A G 16: 8,534,377 (GRCm39) probably null Het
Vmn2r94 G T 17: 18,477,937 (GRCm39) T158K probably damaging Het
Vmn2r95 G T 17: 18,660,169 (GRCm39) A194S possibly damaging Het
Zfp944 A T 17: 22,558,047 (GRCm39) I400N possibly damaging Het
Zmynd12 T A 4: 119,291,194 (GRCm39) I53K 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
IGL03075:Smyd2 APN 1 189,621,029 (GRCm39) missense probably damaging 0.98
R0739:Smyd2 UTSW 1 189,621,059 (GRCm39) missense possibly damaging 0.50
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
Posted On 2015-04-16