Incidental Mutation 'R4171:Mettl6'
ID 318149
Institutional Source Beutler Lab
Gene Symbol Mettl6
Ensembl Gene ENSMUSG00000021891
Gene Name methyltransferase 6, methylcytidine
Synonyms 1600013P15Rik
MMRRC Submission 041011-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.622) question?
Stock # R4171 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 31195535-31216997 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31215624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 52 (N52S)
Ref Sequence ENSEMBL: ENSMUSP00000154679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022446] [ENSMUST00000055303] [ENSMUST00000227595] [ENSMUST00000227777] [ENSMUST00000228181] [ENSMUST00000228727] [ENSMUST00000228943]
AlphaFold Q8BVH9
Predicted Effect probably benign
Transcript: ENSMUST00000022446
SMART Domains Protein: ENSMUSP00000022446
Gene: ENSMUSG00000021890

DomainStartEndE-ValueType
Pfam:EAF 14 114 3.4e-26 PFAM
low complexity region 125 153 N/A INTRINSIC
low complexity region 188 211 N/A INTRINSIC
low complexity region 218 232 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000055303
AA Change: N52S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077138
Gene: ENSMUSG00000021891
AA Change: N52S

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 damaging
Transcript: ENSMUST00000227595
AA Change: N52S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227777
AA Change: N52S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227852
Predicted Effect probably damaging
Transcript: ENSMUST00000228181
AA Change: N52S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000228727
AA Change: N52S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000228943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228952
Meta Mutation Damage Score 0.3572 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (42/42)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
2310022A10Rik A G 7: 27,265,109 (GRCm39) N87S probably benign Het
Apmap A G 2: 150,425,987 (GRCm39) V387A probably benign Het
B130024G19Rik C T 7: 70,038,454 (GRCm39) noncoding transcript Het
Cd200r1 A G 16: 44,613,127 (GRCm39) I244M probably damaging Het
Clic6 T C 16: 92,293,949 (GRCm39) probably benign Het
Col11a1 A G 3: 114,001,863 (GRCm39) D429G probably damaging Het
Dsg4 T A 18: 20,591,636 (GRCm39) Y458* probably null Het
Elapor1 G T 3: 108,368,259 (GRCm39) Q885K probably benign Het
Fbxl13 A G 5: 21,748,786 (GRCm39) Y378H probably benign Het
Ifi203 A C 1: 173,761,341 (GRCm39) probably benign Het
Ifna6 T C 4: 88,746,038 (GRCm39) V129A probably benign Het
Igkv3-4 G A 6: 70,649,324 (GRCm39) A108T probably damaging Het
Itga1 G A 13: 115,167,422 (GRCm39) Q165* probably null Het
Kdm4c T A 4: 74,199,135 (GRCm39) Y108N possibly damaging Het
Lap3 T C 5: 45,666,833 (GRCm39) S412P probably benign Het
Lrfn5 G A 12: 61,890,168 (GRCm39) V486I probably damaging Het
Mep1b A T 18: 21,228,163 (GRCm39) probably null Het
Nup54 A G 5: 92,565,343 (GRCm39) I458T possibly damaging Het
Or1e16 A C 11: 73,286,365 (GRCm39) L161R probably damaging Het
Or6c204 G A 10: 129,022,453 (GRCm39) A279V probably benign Het
Pecr A T 1: 72,315,428 (GRCm39) N107K probably damaging Het
Pnpla6 A G 8: 3,593,997 (GRCm39) Q1307R probably benign Het
Poll T C 19: 45,544,492 (GRCm39) K310E probably damaging Het
Rab29 A G 1: 131,795,475 (GRCm39) Q29R probably benign Het
Reg2 G A 6: 78,383,574 (GRCm39) G99D probably damaging Het
Rftn2 G A 1: 55,253,429 (GRCm39) S58L probably damaging Het
Rps6kb1 T C 11: 86,435,405 (GRCm39) E43G possibly damaging Het
Sdk2 T C 11: 113,757,815 (GRCm39) probably null Het
Slc38a6 T A 12: 73,397,326 (GRCm39) Y323N probably benign Het
Sp100 T C 1: 85,634,562 (GRCm39) S152P probably benign Het
Tmc5 A G 7: 118,248,810 (GRCm39) Y605C probably damaging Het
Txndc17 T C 11: 72,098,537 (GRCm39) Y30H probably damaging Het
Vmn1r44 T A 6: 89,870,996 (GRCm39) F247L probably damaging Het
Zbtb39 C T 10: 127,578,236 (GRCm39) T270I possibly damaging Het
Zfp512b G A 2: 181,232,391 (GRCm39) probably null Het
Zwilch T A 9: 64,065,997 (GRCm39) R255* probably null Het
Other mutations in Mettl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02113:Mettl6 APN 14 31,204,788 (GRCm39) nonsense probably null
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
Predicted Primers PCR Primer
(F):5'- CATTCTGACAGACGTCCTAATTTTC -3'
(R):5'- GTTTCCGGCAACTACAATGGC -3'

Sequencing Primer
(F):5'- GTCAGTAAAGTGCTTGCCAC -3'
(R):5'- CTACAATGGCTTCTTTCCAAAGG -3'
Posted On 2015-06-10