Incidental Mutation 'IGL02113:Smyd2'
ID280235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smyd2
Ensembl Gene ENSMUSG00000026603
Gene NameSET and MYND domain containing 2
SynonymsZmynd14, KMT3C, 1110020E07Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02113
Quality Score
Status
Chromosome1
Chromosomal Location189880492-189922363 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 189882217 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 371 (S371R)
Ref Sequence ENSEMBL: ENSMUSP00000027897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027897]
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: 122,110,478 H726L possibly damaging Het
Aqr A T 2: 114,120,027 Y900* probably null Het
Atp11a G T 8: 12,865,048 R1155S probably benign Het
Bahd1 A G 2: 118,917,205 D435G probably benign Het
Brca2 A G 5: 150,540,979 T1403A possibly damaging Het
Cc2d2a T A 5: 43,685,248 probably null Het
Cog7 A G 7: 121,925,480 I697T probably damaging Het
Dclre1a A G 19: 56,541,532 V791A probably damaging Het
Dgki A G 6: 36,913,625 probably benign Het
Dpyd A G 3: 118,999,219 Y525C probably benign Het
Eepd1 T C 9: 25,482,713 L91P probably damaging Het
Foxf1 T A 8: 121,084,565 L56H probably damaging Het
Fry A T 5: 150,399,605 M1074L probably benign Het
Gbx1 T C 5: 24,504,876 T324A probably damaging Het
Gfpt1 T A 6: 87,087,367 N646K probably benign Het
Gm10258 C T 3: 30,268,393 probably benign Het
Gm12887 T C 4: 121,616,495 M53V probably benign Het
Hoxa11 C T 6: 52,245,317 G135S probably damaging Het
Mettl6 A T 14: 31,482,831 Y211* probably null Het
Moxd2 T C 6: 40,885,404 I160M probably benign Het
Mphosph10 G A 7: 64,376,807 probably benign Het
Mrpl19 T A 6: 81,965,915 M5L probably benign Het
Nbea A G 3: 55,992,492 V1412A probably benign Het
Nceh1 G T 3: 27,222,891 S121I probably damaging Het
Ntan1 A G 16: 13,835,144 T217A probably damaging Het
Ogfod1 C T 8: 94,064,213 A504V probably damaging Het
Olfr584 A T 7: 103,085,850 I111L possibly damaging Het
Pde3b G A 7: 114,526,906 V792M probably damaging Het
Pde9a A T 17: 31,459,970 M262L probably benign Het
Pi4ka A G 16: 17,373,415 V206A probably benign Het
Pkp1 A T 1: 135,883,914 N406K possibly damaging Het
Rcn3 A G 7: 45,083,338 I302T probably damaging Het
Rfx6 A G 10: 51,678,012 Q68R probably benign Het
Rpgrip1 A G 14: 52,133,844 D340G possibly damaging Het
Scn10a C T 9: 119,609,890 G1638S probably damaging Het
Serpinb9f A T 13: 33,334,468 H317L probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc40a1 A G 1: 45,910,894 I466T probably benign Het
Snap47 A C 11: 59,428,436 I292S probably damaging Het
Tbx4 A G 11: 85,912,264 E322G possibly damaging Het
Tg A G 15: 66,705,330 T1501A probably benign Het
Tmem259 A G 10: 79,978,709 V300A probably benign Het
Usp7 A G 16: 8,716,513 probably null Het
Vmn2r94 G T 17: 18,257,675 T158K probably damaging Het
Vmn2r95 G T 17: 18,439,907 A194S possibly damaging Het
Zfp944 A T 17: 22,339,066 I400N possibly damaging Het
Zmynd12 T A 4: 119,433,997 I53K probably damaging Het
Other mutations in Smyd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Smyd2 APN 1 189899846 missense probably damaging 1.00
IGL01060:Smyd2 APN 1 189897470 missense possibly damaging 0.66
IGL01938:Smyd2 APN 1 189888882 missense probably benign 0.05
IGL03075:Smyd2 APN 1 189888832 missense probably damaging 0.98
R0739:Smyd2 UTSW 1 189888862 missense possibly damaging 0.50
R2108:Smyd2 UTSW 1 189897426 missense probably damaging 1.00
R2497:Smyd2 UTSW 1 189885337 missense possibly damaging 0.93
R4466:Smyd2 UTSW 1 189882152 missense probably benign 0.09
R4605:Smyd2 UTSW 1 189897426 missense probably damaging 1.00
R4672:Smyd2 UTSW 1 189909904 missense probably damaging 1.00
R4872:Smyd2 UTSW 1 189896650 missense probably damaging 1.00
R4963:Smyd2 UTSW 1 189882188 missense probably damaging 1.00
R5419:Smyd2 UTSW 1 189909893 nonsense probably null
R5660:Smyd2 UTSW 1 189885382 missense possibly damaging 0.95
R6271:Smyd2 UTSW 1 189883852 missense probably damaging 1.00
Posted On2015-04-16