Incidental Mutation 'IGL00491:Mettl9'
ID5134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mettl9
Ensembl Gene ENSMUSG00000030876
Gene Namemethyltransferase like 9
Synonyms0610012D09Rik, Drev
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL00491
Quality Score
Status
Chromosome7
Chromosomal Location121034445-121078329 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 121052113 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 17 (V17E)
Ref Sequence ENSEMBL: ENSMUSP00000147071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033163] [ENSMUST00000207351]
Predicted Effect probably damaging
Transcript: ENSMUST00000033163
AA Change: V128E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033163
Gene: ENSMUSG00000030876
AA Change: V128E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 39 50 N/A INTRINSIC
Pfam:DREV 56 317 1.4e-142 PFAM
Pfam:Methyltransf_23 123 289 2.7e-12 PFAM
Pfam:Methyltransf_12 150 236 9.1e-10 PFAM
Pfam:Methyltransf_11 150 238 9.4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207332
Predicted Effect probably damaging
Transcript: ENSMUST00000207351
AA Change: V17E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208157
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,273,232 S1870Y possibly damaging Het
Bcorl1 T G X: 48,406,042 V1730G probably damaging Het
Ccdc7a A G 8: 129,026,754 probably benign Het
Col13a1 T A 10: 61,864,005 probably null Het
Dgkq A G 5: 108,654,582 S417P possibly damaging Het
Dnah1 A G 14: 31,261,839 Y4016H probably damaging Het
Dnajc1 A G 2: 18,308,902 V136A possibly damaging Het
Fcgbp A G 7: 28,093,402 T944A probably damaging Het
Gm10351 A T 7: 43,099,793 noncoding transcript Het
Msh5 A G 17: 35,030,730 V613A probably damaging Het
Nup54 T A 5: 92,417,485 I458L probably benign Het
Oxct1 A G 15: 4,096,514 N365D probably damaging Het
Patl1 T A 19: 11,929,887 N378K probably benign Het
Plcl1 T C 1: 55,713,498 probably null Het
Polk A T 13: 96,496,760 D258E probably benign Het
Ppm1f T C 16: 16,923,913 L417P probably benign Het
Rnf133 T C 6: 23,649,256 I225V probably benign Het
Robo4 A T 9: 37,405,935 K463N possibly damaging Het
Slc12a2 T A 18: 57,936,405 D1019E probably damaging Het
Spock1 C A 13: 57,556,806 R116S possibly damaging Het
Stambp G T 6: 83,556,298 L328I probably damaging Het
Tdrd7 T C 4: 46,010,889 C598R probably damaging Het
Tmem87a A G 2: 120,379,780 probably benign Het
Tpra1 A G 6: 88,910,408 probably benign Het
Vps13c A G 9: 67,893,136 E544G probably damaging Het
Other mutations in Mettl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01723:Mettl9 APN 7 121052269 missense possibly damaging 0.67
PIT4402001:Mettl9 UTSW 7 121057217 missense probably damaging 0.99
R0401:Mettl9 UTSW 7 121076313 missense probably damaging 1.00
R1004:Mettl9 UTSW 7 121076237 missense probably benign 0.00
R1734:Mettl9 UTSW 7 121047841 missense probably damaging 1.00
R5574:Mettl9 UTSW 7 121047870 missense probably benign 0.03
R7913:Mettl9 UTSW 7 121076301 missense probably damaging 1.00
Z1177:Mettl9 UTSW 7 121057330 missense probably damaging 1.00
Posted On2012-04-20