Incidental Mutation 'IGL02113:Mettl6'
ID 280247
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mettl6
Ensembl Gene ENSMUSG00000021891
Gene Name methyltransferase 6, methylcytidine
Synonyms 1600013P15Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.625) question?
Stock # IGL02113
Quality Score
Status
Chromosome 14
Chromosomal Location 31195535-31216997 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 31204788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 211 (Y211*)
Ref Sequence ENSEMBL: ENSMUSP00000154679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055303] [ENSMUST00000226986] [ENSMUST00000227595] [ENSMUST00000227777] [ENSMUST00000228181] [ENSMUST00000228727]
AlphaFold Q8BVH9
Predicted Effect probably null
Transcript: ENSMUST00000055303
AA Change: Y211*
SMART Domains Protein: ENSMUSP00000077138
Gene: ENSMUSG00000021891
AA Change: Y211*

DomainStartEndE-ValueType
Pfam:Methyltransf_23 49 241 3.3e-13 PFAM
Pfam:Methyltransf_31 77 215 5.1e-9 PFAM
Pfam:Methyltransf_18 79 190 5.8e-10 PFAM
Pfam:Methyltransf_12 84 183 5.9e-17 PFAM
Pfam:Methyltransf_11 84 187 3.2e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000226986
AA Change: Y50*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227095
Predicted Effect probably null
Transcript: ENSMUST00000227595
AA Change: Y166*
Predicted Effect probably null
Transcript: ENSMUST00000227777
AA Change: Y211*
Predicted Effect probably benign
Transcript: ENSMUST00000228181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228309
Predicted Effect probably null
Transcript: ENSMUST00000228727
AA Change: Y211*
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced 3-methylcytidine (m3C) methyltransferases modification of tRNA. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,904,127 (GRCm39) H726L possibly damaging Het
Aqr A T 2: 113,950,508 (GRCm39) Y900* probably null Het
Atp11a G T 8: 12,915,048 (GRCm39) R1155S probably benign Het
Bahd1 A G 2: 118,747,686 (GRCm39) D435G probably benign Het
Brca2 A G 5: 150,464,444 (GRCm39) T1403A possibly damaging Het
Cc2d2a T A 5: 43,842,590 (GRCm39) probably null Het
Cog7 A G 7: 121,524,703 (GRCm39) I697T probably damaging Het
Dclre1a A G 19: 56,529,964 (GRCm39) V791A probably damaging Het
Dgki A G 6: 36,890,560 (GRCm39) probably benign Het
Dpyd A G 3: 118,792,868 (GRCm39) Y525C probably benign Het
Eepd1 T C 9: 25,394,009 (GRCm39) L91P probably damaging Het
Foxf1 T A 8: 121,811,304 (GRCm39) L56H probably damaging Het
Fry A T 5: 150,323,070 (GRCm39) M1074L probably benign Het
Gbx1 T C 5: 24,709,874 (GRCm39) T324A probably damaging Het
Gfpt1 T A 6: 87,064,349 (GRCm39) N646K probably benign Het
Gm10258 C T 3: 30,322,542 (GRCm39) probably benign Het
Gm12887 T C 4: 121,473,692 (GRCm39) M53V probably benign Het
Hoxa11 C T 6: 52,222,297 (GRCm39) G135S probably damaging Het
Moxd2 T C 6: 40,862,338 (GRCm39) I160M probably benign Het
Mphosph10 G A 7: 64,026,555 (GRCm39) probably benign Het
Mrpl19 T A 6: 81,942,896 (GRCm39) M5L probably benign Het
Nbea A G 3: 55,899,913 (GRCm39) V1412A probably benign Het
Nceh1 G T 3: 27,277,040 (GRCm39) S121I probably damaging Het
Ntan1 A G 16: 13,653,008 (GRCm39) T217A probably damaging Het
Ogfod1 C T 8: 94,790,841 (GRCm39) A504V probably damaging Het
Or52r1c A T 7: 102,735,057 (GRCm39) I111L possibly damaging Het
Pde3b G A 7: 114,126,141 (GRCm39) V792M probably damaging Het
Pde9a A T 17: 31,678,944 (GRCm39) M262L probably benign Het
Pi4ka A G 16: 17,191,279 (GRCm39) V206A probably benign Het
Pkp1 A T 1: 135,811,652 (GRCm39) N406K possibly damaging Het
Rcn3 A G 7: 44,732,762 (GRCm39) I302T probably damaging Het
Rfx6 A G 10: 51,554,108 (GRCm39) Q68R probably benign Het
Rpgrip1 A G 14: 52,371,301 (GRCm39) D340G possibly damaging Het
Scn10a C T 9: 119,438,956 (GRCm39) G1638S probably damaging Het
Serpinb9f A T 13: 33,518,451 (GRCm39) H317L probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc40a1 A G 1: 45,950,054 (GRCm39) I466T probably benign Het
Smyd2 A T 1: 189,614,414 (GRCm39) S371R probably damaging Het
Snap47 A C 11: 59,319,262 (GRCm39) I292S probably damaging Het
Tbx4 A G 11: 85,803,090 (GRCm39) E322G possibly damaging Het
Tg A G 15: 66,577,179 (GRCm39) T1501A probably benign Het
Tmem259 A G 10: 79,814,543 (GRCm39) V300A probably benign Het
Usp7 A G 16: 8,534,377 (GRCm39) probably null Het
Vmn2r94 G T 17: 18,477,937 (GRCm39) T158K probably damaging Het
Vmn2r95 G T 17: 18,660,169 (GRCm39) A194S possibly damaging Het
Zfp944 A T 17: 22,558,047 (GRCm39) I400N possibly damaging Het
Zmynd12 T A 4: 119,291,194 (GRCm39) I53K probably damaging Het
Other mutations in Mettl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4171:Mettl6 UTSW 14 31,215,624 (GRCm39) missense probably damaging 1.00
R4979:Mettl6 UTSW 14 31,201,752 (GRCm39) missense probably damaging 1.00
R6408:Mettl6 UTSW 14 31,201,683 (GRCm39) missense probably damaging 1.00
R9147:Mettl6 UTSW 14 31,204,855 (GRCm39) missense probably damaging 1.00
R9445:Mettl6 UTSW 14 31,209,527 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16