Incidental Mutation 'IGL01723:Mettl9'
ID105177
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: 0.140) question?
Stock #IGL01723
Quality Score
Status
Chromosome7
Chromosomal Location121034445-121078329 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121052269 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 180 (I180T)
Ref Sequence ENSEMBL: ENSMUSP00000033163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033163] [ENSMUST00000207351]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033163
AA Change: I180T

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033163
Gene: ENSMUSG00000030876
AA Change: I180T

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 benign
Transcript: ENSMUST00000207351
AA Change: I69T

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208157
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,314,168 A705V probably benign Het
Abcc10 A T 17: 46,313,745 C728S probably damaging Het
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
BC067074 A T 13: 113,367,557 Q198L possibly damaging Het
C030048H21Rik A G 2: 26,254,768 S1316P possibly damaging Het
Cd86 A G 16: 36,607,124 L281S probably benign Het
Cdon C T 9: 35,503,338 P1170S probably benign Het
Col11a2 T A 17: 34,061,280 probably benign Het
Cyp2j12 A G 4: 96,102,126 V401A possibly damaging Het
Cyp7a1 A T 4: 6,272,442 I257N probably damaging Het
Ddhd2 A T 8: 25,735,011 L593* probably null Het
Dnah8 T C 17: 30,708,471 L1367S probably damaging Het
Dsg4 G A 18: 20,466,510 V728M probably damaging Het
Dsp G A 13: 38,179,084 V447M probably damaging Het
Epx C T 11: 87,869,402 R462H probably damaging Het
Fgf18 T C 11: 33,134,332 T41A probably damaging Het
Fh1 G T 1: 175,601,542 A469D probably damaging Het
Hcn1 A C 13: 117,976,055 S852R probably damaging Het
Hmcn1 A T 1: 150,744,960 S1166R probably benign Het
Krt78 C T 15: 101,951,798 G228S possibly damaging Het
Lrrn4 T C 2: 132,870,061 E614G possibly damaging Het
Mgat2 A G 12: 69,185,641 T330A probably damaging Het
Myh13 T C 11: 67,369,219 probably benign Het
Nipbl G A 15: 8,335,071 T1283I possibly damaging Het
Nxpe4 A G 9: 48,398,598 D387G probably benign Het
Olfr1110 A G 2: 87,135,478 V281A probably benign Het
Olfr382 T A 11: 73,516,626 D191V probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Pcnt C T 10: 76,418,499 R832H possibly damaging Het
Ptprd A C 4: 76,243,673 S108R probably damaging Het
Ryr3 C T 2: 112,650,111 probably null Het
Slc22a4 C T 11: 53,988,845 V463M probably benign Het
Soga1 T C 2: 157,030,614 M938V probably benign Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Vmn2r44 T A 7: 8,377,916 H326L probably damaging Het
Vps13d A T 4: 145,173,145 M188K possibly damaging Het
Other mutations in Mettl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Mettl9 APN 7 121052113 missense probably damaging 1.00
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
R8913:Mettl9 UTSW 7 121076316 missense not run
Z1177:Mettl9 UTSW 7 121057330 missense probably damaging 1.00
Posted On2014-01-21