Incidental Mutation 'IGL00926:Mettl18'
ID26644
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mettl18
Ensembl Gene ENSMUSG00000041396
Gene Namemethyltransferase like 18
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.144) question?
Stock #IGL00926
Quality Score
Status
Chromosome1
Chromosomal Location163994889-163997243 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 163996226 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 39 (S39T)
Ref Sequence ENSEMBL: ENSMUSP00000107116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045694] [ENSMUST00000045876] [ENSMUST00000097493] [ENSMUST00000111490] [ENSMUST00000160926]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045694
AA Change: S39T

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048636
Gene: ENSMUSG00000041396
AA Change: S39T

DomainStartEndE-ValueType
Pfam:Methyltransf_16 150 233 7.3e-7 PFAM
Pfam:PrmA 166 240 2.1e-7 PFAM
low complexity region 300 313 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000045876
SMART Domains Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:DUF4487 233 779 2.3e-209 PFAM
low complexity region 877 889 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097493
SMART Domains Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:DUF4487 233 779 1.3e-186 PFAM
low complexity region 877 889 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111490
AA Change: S39T

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107116
Gene: ENSMUSG00000041396
AA Change: S39T

DomainStartEndE-ValueType
Pfam:MTS 147 232 4.5e-6 PFAM
Pfam:Methyltransf_16 149 233 3.6e-7 PFAM
Pfam:PrmA 166 238 2.7e-7 PFAM
low complexity region 300 313 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160926
SMART Domains Protein: ENSMUSP00000124826
Gene: ENSMUSG00000041406

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162949
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr2 A T X: 21,486,285 M53L probably benign Het
Apob T C 12: 8,015,421 V4097A probably benign Het
Brip1 T C 11: 86,148,401 K436E possibly damaging Het
Cadps C A 14: 12,491,795 R785L probably damaging Het
Cavin2 A G 1: 51,300,877 K238E probably damaging Het
Ccdc158 G A 5: 92,650,767 T358I probably damaging Het
Cds1 A G 5: 101,809,901 I246M probably damaging Het
Cep19 A G 16: 32,107,080 E102G probably damaging Het
Clec4a1 T A 6: 122,922,055 C28S possibly damaging Het
Csmd3 T A 15: 47,710,964 Y2082F possibly damaging Het
Fbn1 T A 2: 125,319,042 T2193S possibly damaging Het
Gm24124 G T 19: 13,634,057 probably benign Het
Gpbp1l1 T A 4: 116,587,513 probably null Het
Helq T C 5: 100,765,082 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Itga3 G A 11: 95,065,886 H122Y probably damaging Het
Ndst4 A T 3: 125,561,453 T337S probably benign Het
Neb A G 2: 52,270,317 probably benign Het
Nrbp1 T C 5: 31,243,797 S6P probably benign Het
Olfr444 A T 6: 42,956,436 probably benign Het
Olfr618 A G 7: 103,598,162 N282S possibly damaging Het
Olfr633 A G 7: 103,946,997 T144A probably benign Het
Oprk1 A G 1: 5,598,905 I191M probably damaging Het
Psap T C 10: 60,292,536 V69A probably damaging Het
Scn7a C T 2: 66,684,131 E1100K probably benign Het
Tmem145 A G 7: 25,314,730 N423S possibly damaging Het
Tpd52 A T 3: 8,947,632 probably null Het
Trmt13 G A 3: 116,590,235 Q58* probably null Het
Ttn T C 2: 76,758,781 E21346G probably damaging Het
Other mutations in Mettl18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01989:Mettl18 APN 1 163996303 missense probably benign 0.00
R0190:Mettl18 UTSW 1 163996422 missense probably damaging 0.98
R0394:Mettl18 UTSW 1 163996341 missense probably benign
R0562:Mettl18 UTSW 1 163996493 missense probably benign 0.04
R2260:Mettl18 UTSW 1 163996825 missense probably benign 0.28
R4293:Mettl18 UTSW 1 163996602 missense probably damaging 1.00
R4626:Mettl18 UTSW 1 163996476 missense probably damaging 1.00
R4749:Mettl18 UTSW 1 163996785 missense probably benign 0.13
R5930:Mettl18 UTSW 1 163997177 missense probably null 0.00
R5987:Mettl18 UTSW 1 163996775 missense probably benign 0.04
R6503:Mettl18 UTSW 1 163997118 missense possibly damaging 0.94
R6687:Mettl18 UTSW 1 163996800 missense possibly damaging 0.73
R6730:Mettl18 UTSW 1 163997181 missense probably damaging 1.00
R7457:Mettl18 UTSW 1 163996761 missense probably damaging 1.00
R8343:Mettl18 UTSW 1 163996940 missense probably damaging 1.00
Posted On2013-04-17