Incidental Mutation 'IGL01060:Smyd2'
ID50164
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 #IGL01060
Quality Score
Status
Chromosome1
Chromosomal Location189880492-189922363 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 189897470 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 121 (E121G)
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 possibly damaging
Transcript: ENSMUST00000027897
AA Change: E121G

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027897
Gene: ENSMUSG00000026603
AA Change: E121G

DomainStartEndE-ValueType
SET 7 247 2.88e-2 SMART
SCOP:d1elra_ 344 411 8e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144452
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Anks4b A G 7: 120,173,925 T3A possibly damaging Het
Arhgef26 T A 3: 62,340,121 S209T probably benign Het
Ccdc78 A G 17: 25,788,832 D281G probably damaging Het
Ccnb3 A T X: 6,980,274 N1362K probably benign Het
Dnah2 T C 11: 69,478,092 N1662S possibly damaging Het
Ern2 T A 7: 122,170,092 R904W probably damaging Het
Fam120c C T X: 151,469,587 P1045S probably benign Het
Gm12887 C T 4: 121,616,413 probably benign Het
Gpld1 G A 13: 24,982,566 G627S probably damaging Het
Ikbkap C T 4: 56,784,537 probably null Het
Krt77 T A 15: 101,860,880 probably benign Het
Ltf A T 9: 111,022,882 probably null Het
Map3k6 G T 4: 133,247,302 probably null Het
Nsd1 G A 13: 55,263,429 G1431D probably damaging Het
Plekhm2 C T 4: 141,642,645 probably null Het
Popdc2 T A 16: 38,373,965 N249K probably damaging Het
Ppm1h A G 10: 122,907,571 D400G possibly damaging Het
Rps6ka1 A T 4: 133,860,870 S320T probably damaging Het
Rsph6a C T 7: 19,054,868 R42* probably null Het
Sap130 T C 18: 31,715,443 L967P probably damaging Het
Sspo G A 6: 48,449,479 W144* probably null Het
Taar6 A G 10: 23,985,072 V192A probably benign Het
Tbc1d24 A T 17: 24,185,828 V114E probably damaging Het
Trim16 T C 11: 62,820,704 I67T probably benign Het
Ttll7 A G 3: 146,909,582 D267G possibly damaging Het
Ttn T C 2: 76,889,729 probably benign Het
Vmn2r56 T A 7: 12,713,089 I379F probably damaging Het
Zfp14 T C 7: 30,038,085 T492A probably damaging Het
Other mutations in Smyd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Smyd2 APN 1 189899846 missense probably damaging 1.00
IGL01938:Smyd2 APN 1 189888882 missense probably benign 0.05
IGL02113:Smyd2 APN 1 189882217 missense probably damaging 0.99
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
R8291:Smyd2 UTSW 1 189900091 intron probably benign
R8820:Smyd2 UTSW 1 189899821 missense probably benign 0.03
Posted On2013-06-21