Incidental Mutation 'R6408:Mettl6'
Institutional Source Beutler Lab
Gene Symbol Mettl6
Ensembl Gene ENSMUSG00000021891
Gene Namemethyltransferase like 6
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.519) question?
Stock #R6408 (G1)
Quality Score225.009
Status Validated
Chromosomal Location31473578-31495040 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31479726 bp
Amino Acid Change Glutamic Acid to Glycine at position 253 (E253G)
Ref Sequence ENSEMBL: ENSMUSP00000077138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055303] [ENSMUST00000226986] [ENSMUST00000227595] [ENSMUST00000227777] [ENSMUST00000228181] [ENSMUST00000228727]
Predicted Effect probably damaging
Transcript: ENSMUST00000055303
AA Change: E253G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077138
Gene: ENSMUSG00000021891
AA Change: E253G

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 benign
Transcript: ENSMUST00000226986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227095
Predicted Effect possibly damaging
Transcript: ENSMUST00000227595
AA Change: E208G

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000227777
Predicted Effect probably benign
Transcript: ENSMUST00000228181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228309
Predicted Effect probably benign
Transcript: ENSMUST00000228727
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.2%
Validation Efficiency 94% (45/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,543,992 S50P probably damaging Het
4930407I10Rik T C 15: 82,065,106 V1068A possibly damaging Het
Acss1 A G 2: 150,628,492 probably null Het
Amer2 T C 14: 60,380,225 I497T probably damaging Het
Azi2 A T 9: 118,061,482 R51* probably null Het
BC005561 A G 5: 104,518,777 I388M probably benign Het
Brdt A G 5: 107,385,492 D946G probably damaging Het
Bzw2 C T 12: 36,107,525 V314I possibly damaging Het
Capn13 A T 17: 73,365,959 Y116* probably null Het
Clca4b A G 3: 144,919,275 I485T probably benign Het
Crybg3 T A 16: 59,495,690 T1130S possibly damaging Het
Cubn C T 2: 13,294,203 V3220M probably damaging Het
Cyp4f16 T A 17: 32,551,199 L514Q probably damaging Het
D7Ertd443e G T 7: 134,349,711 Q31K probably benign Het
Dcaf15 T C 8: 84,104,726 E8G probably benign Het
Ddx24 A C 12: 103,425,560 probably benign Het
Diaph3 T C 14: 86,828,994 M988V possibly damaging Het
Dlx4 A G 11: 95,145,252 V77A probably benign Het
Dnah3 T C 7: 119,922,968 probably null Het
Drc1 A G 5: 30,356,288 E396G probably benign Het
Gab1 C A 8: 80,788,597 R364L possibly damaging Het
Gbp2b T C 3: 142,618,138 L568S probably benign Het
Gjb5 A T 4: 127,356,147 F68Y probably benign Het
Gm17359 A G 3: 79,449,399 R170G probably benign Het
Gm9008 A G 6: 76,496,458 C392R probably damaging Het
Hs6st3 C A 14: 119,138,634 P74T probably benign Het
Kif26b T C 1: 178,917,568 L1743P probably damaging Het
Lnx1 A T 5: 74,685,646 C48S probably damaging Het
Lrfn2 A G 17: 49,070,626 H245R probably damaging Het
Lrrc27 A G 7: 139,218,268 E93G probably benign Het
Nmu A T 5: 76,343,971 F106Y probably damaging Het
Pcsk7 T C 9: 45,909,696 I142T probably benign Het
Polr3a A T 14: 24,486,871 probably null Het
Psmb9 G T 17: 34,185,733 A19E probably damaging Het
Pus7l A G 15: 94,531,575 M454T probably benign Het
Raet1e A G 10: 22,180,746 T74A probably benign Het
Ralb A C 1: 119,478,109 Y43* probably null Het
Ralgapa1 C A 12: 55,683,910 E1947* probably null Het
Robo1 T C 16: 72,972,046 Y500H probably benign Het
Shroom1 A C 11: 53,463,387 T45P probably benign Het
Slit2 A G 5: 47,984,986 probably benign Het
Srgap3 T C 6: 112,723,006 S1004G probably damaging Het
Taok2 A G 7: 126,870,992 V888A probably benign Het
Tbc1d8 T A 1: 39,402,899 D204V probably damaging Het
Trav7d-4 C A 14: 52,770,167 A39D probably damaging Het
Ush2a G T 1: 188,267,032 E180* probably null Het
Vmn1r37 A G 6: 66,731,579 D63G probably benign Het
Zfp282 G A 6: 47,880,385 R184Q probably damaging Het
Other mutations in Mettl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02113:Mettl6 APN 14 31482831 nonsense probably null
R4171:Mettl6 UTSW 14 31493667 missense probably damaging 1.00
R4979:Mettl6 UTSW 14 31479795 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-05-04