Incidental Mutation 'IGL00945:Mettl16'
ID 28562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mettl16
Ensembl Gene ENSMUSG00000010554
Gene Name methyltransferase 16, N6-methyladenosine
Synonyms 2810013M15Rik, 2610100D03Rik, A830095F14Rik, Mett10d
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00945
Quality Score
Status
Chromosome 11
Chromosomal Location 74661658-74716649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74708192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 464 (H464Y)
Ref Sequence ENSEMBL: ENSMUSP00000010698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010698] [ENSMUST00000092912] [ENSMUST00000141755]
AlphaFold Q9CQG2
Predicted Effect probably benign
Transcript: ENSMUST00000010698
AA Change: H464Y

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000010698
Gene: ENSMUSG00000010554
AA Change: H464Y

DomainStartEndE-ValueType
Pfam:Methyltransf_10 1 268 2.9e-114 PFAM
Pfam:MTS 92 202 1.8e-7 PFAM
Pfam:Methyltransf_10 276 331 5.5e-21 PFAM
low complexity region 421 437 N/A INTRINSIC
low complexity region 497 518 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092912
SMART Domains Protein: ENSMUSP00000090590
Gene: ENSMUSG00000010554

DomainStartEndE-ValueType
Pfam:Methyltransf_10 1 211 7.8e-97 PFAM
Pfam:PrmA 85 185 6.5e-7 PFAM
Pfam:MTS 92 200 1.4e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134571
Predicted Effect probably benign
Transcript: ENSMUST00000141755
AA Change: H424Y

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000114682
Gene: ENSMUSG00000010554
AA Change: H424Y

DomainStartEndE-ValueType
Pfam:Methyltransf_10 1 291 4.8e-138 PFAM
low complexity region 381 397 N/A INTRINSIC
low complexity region 457 478 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144692
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A G 5: 35,994,364 (GRCm39) I101V probably damaging Het
Aldh5a1 A G 13: 25,110,141 (GRCm39) probably benign Het
Arhgef28 A C 13: 98,103,907 (GRCm39) L728R possibly damaging Het
Dct G A 14: 118,277,916 (GRCm39) T218M probably damaging Het
Hcn2 C T 10: 79,569,637 (GRCm39) R546* probably null Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Lap3 A G 5: 45,662,115 (GRCm39) probably null Het
Myh13 G A 11: 67,238,832 (GRCm39) R725Q probably null Het
Nf1 T C 11: 79,360,629 (GRCm39) F1436L probably damaging Het
Nod1 C T 6: 54,921,571 (GRCm39) probably null Het
Or6c215 A T 10: 129,637,776 (GRCm39) V206E possibly damaging Het
Pde5a T A 3: 122,629,291 (GRCm39) probably null Het
Pja2 T C 17: 64,616,391 (GRCm39) Y168C probably benign Het
Plod2 A G 9: 92,466,549 (GRCm39) I170V probably benign Het
Pop5 A G 5: 115,378,618 (GRCm39) probably benign Het
Sdk1 G T 5: 142,070,368 (GRCm39) probably null Het
Sema3f G A 9: 107,562,721 (GRCm39) S420L probably benign Het
Shtn1 C T 19: 59,007,384 (GRCm39) E289K possibly damaging Het
Smarca1 A T X: 46,947,178 (GRCm39) Y526* probably null Het
Sptan1 T C 2: 29,890,083 (GRCm39) probably benign Het
St7l C A 3: 104,833,798 (GRCm39) H486Q probably damaging Het
Tcte1 C A 17: 45,852,115 (GRCm39) F449L probably benign Het
Tmem131 A G 1: 36,866,086 (GRCm39) probably benign Het
Trim46 A G 3: 89,151,725 (GRCm39) probably benign Het
Wwp1 A T 4: 19,640,193 (GRCm39) probably null Het
Zc3h13 A G 14: 75,567,587 (GRCm39) D960G probably damaging Het
Other mutations in Mettl16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Mettl16 APN 11 74,683,093 (GRCm39) nonsense probably null
IGL01893:Mettl16 APN 11 74,696,097 (GRCm39) missense possibly damaging 0.84
IGL02079:Mettl16 APN 11 74,708,450 (GRCm39) missense probably damaging 1.00
IGL03217:Mettl16 APN 11 74,708,529 (GRCm39) missense probably damaging 1.00
R2014:Mettl16 UTSW 11 74,708,195 (GRCm39) missense probably benign
R2117:Mettl16 UTSW 11 74,693,755 (GRCm39) missense probably benign
R4042:Mettl16 UTSW 11 74,683,118 (GRCm39) missense probably damaging 1.00
R4773:Mettl16 UTSW 11 74,708,127 (GRCm39) missense possibly damaging 0.49
R5031:Mettl16 UTSW 11 74,693,825 (GRCm39) missense probably benign
R5056:Mettl16 UTSW 11 74,707,766 (GRCm39) missense probably benign 0.34
R5951:Mettl16 UTSW 11 74,686,823 (GRCm39) missense possibly damaging 0.71
R5986:Mettl16 UTSW 11 74,683,063 (GRCm39) missense possibly damaging 0.51
R6012:Mettl16 UTSW 11 74,678,474 (GRCm39) missense probably damaging 1.00
R6314:Mettl16 UTSW 11 74,686,832 (GRCm39) nonsense probably null
R6450:Mettl16 UTSW 11 74,696,164 (GRCm39) missense probably benign 0.02
R7744:Mettl16 UTSW 11 74,693,829 (GRCm39) missense probably benign 0.08
R7959:Mettl16 UTSW 11 74,707,852 (GRCm39) missense probably benign 0.08
R8086:Mettl16 UTSW 11 74,696,091 (GRCm39) missense probably benign 0.03
R8160:Mettl16 UTSW 11 74,708,505 (GRCm39) missense probably damaging 0.99
R9180:Mettl16 UTSW 11 74,693,826 (GRCm39) missense probably benign 0.21
R9257:Mettl16 UTSW 11 74,708,127 (GRCm39) missense possibly damaging 0.49
R9327:Mettl16 UTSW 11 74,696,089 (GRCm39) missense probably benign 0.25
R9496:Mettl16 UTSW 11 74,707,696 (GRCm39) missense possibly damaging 0.51
X0012:Mettl16 UTSW 11 74,707,851 (GRCm39) missense probably benign 0.02
X0028:Mettl16 UTSW 11 74,707,870 (GRCm39) critical splice donor site probably null
Posted On 2013-04-17