Incidental Mutation 'IGL01893:Mettl16'
ID 179287
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 # IGL01893
Quality Score
Status
Chromosome 11
Chromosomal Location 74661658-74716649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74696097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 273 (T273S)
Ref Sequence ENSEMBL: ENSMUSP00000114682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010698] [ENSMUST00000092912] [ENSMUST00000141755]
AlphaFold Q9CQG2
Predicted Effect possibly damaging
Transcript: ENSMUST00000010698
AA Change: T313S

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000010698
Gene: ENSMUSG00000010554
AA Change: T313S

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 possibly damaging
Transcript: ENSMUST00000141755
AA Change: T273S

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114682
Gene: ENSMUSG00000010554
AA Change: T273S

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T A 3: 116,582,198 (GRCm39) I275F probably damaging Het
Avil G A 10: 126,856,415 (GRCm39) E815K possibly damaging Het
Car9 T A 4: 43,510,252 (GRCm39) I278N probably damaging Het
Cast T A 13: 74,875,408 (GRCm39) K480* probably null Het
Cenpj A G 14: 56,790,931 (GRCm39) F373L probably damaging Het
Cspp1 T C 1: 10,204,366 (GRCm39) probably null Het
Diaph3 G A 14: 87,156,288 (GRCm39) T675I possibly damaging Het
Dip2b A T 15: 100,069,101 (GRCm39) probably benign Het
Dnah1 T C 14: 30,988,427 (GRCm39) D3425G probably damaging Het
Dolk A G 2: 30,175,926 (GRCm39) Y40H probably benign Het
Drosha T C 15: 12,866,736 (GRCm39) probably benign Het
Dusp15 A G 2: 152,790,956 (GRCm39) probably null Het
Edrf1 T C 7: 133,258,831 (GRCm39) F770L probably benign Het
Gabra1 T C 11: 42,024,586 (GRCm39) K363R possibly damaging Het
Glipr1l1 A C 10: 111,912,074 (GRCm39) T203P probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
H2-Q10 T C 17: 35,784,168 (GRCm39) S270P probably damaging Het
Hipk2 A T 6: 38,795,330 (GRCm39) M313K probably benign Het
Htt T A 5: 35,034,174 (GRCm39) I1920N probably damaging Het
Lsr A T 7: 30,661,657 (GRCm39) V210E possibly damaging Het
Mbtd1 A T 11: 93,812,238 (GRCm39) I181L probably null Het
Mlst8 T C 17: 24,696,961 (GRCm39) N74D probably benign Het
Nek9 A G 12: 85,383,174 (GRCm39) I102T probably damaging Het
Nme7 C T 1: 164,172,850 (GRCm39) A187V probably damaging Het
Nphp1 A T 2: 127,611,564 (GRCm39) W261R probably damaging Het
Or12e13 G T 2: 87,664,207 (GRCm39) G275* probably null Het
Or2h2 A G 17: 37,396,760 (GRCm39) L99P probably damaging Het
Or4f14 A T 2: 111,742,589 (GRCm39) S229T possibly damaging Het
Orc6 A G 8: 86,034,272 (GRCm39) D165G probably damaging Het
Ovca2 A G 11: 75,069,133 (GRCm39) S89P probably benign Het
Pcdhb12 T G 18: 37,570,263 (GRCm39) S470A probably benign Het
Phactr2 T C 10: 13,122,932 (GRCm39) T397A probably benign Het
Pms2 T C 5: 143,860,337 (GRCm39) L50P probably damaging Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Serpinb11 C A 1: 107,305,387 (GRCm39) S254R probably benign Het
Serpinb11 C A 1: 107,305,388 (GRCm39) Q255K probably benign Het
Skap2 T C 6: 51,851,556 (GRCm39) T79A probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Tbx19 A T 1: 164,967,767 (GRCm39) S327T possibly damaging Het
Themis3 A G 17: 66,866,622 (GRCm39) L206P possibly damaging Het
Tmem132c T A 5: 127,540,093 (GRCm39) L373Q possibly damaging Het
Unc13c G T 9: 73,600,648 (GRCm39) N1365K probably benign Het
Vmn2r106 A T 17: 20,497,730 (GRCm39) M503K probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r33 A G 7: 7,566,776 (GRCm39) I112T probably benign Het
Vps13a A C 19: 16,641,139 (GRCm39) W2328G probably damaging Het
Other mutations in Mettl16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Mettl16 APN 11 74,708,192 (GRCm39) missense probably benign 0.11
IGL01538:Mettl16 APN 11 74,683,093 (GRCm39) nonsense probably null
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 2014-05-07