Incidental Mutation 'IGL00945:Mettl16'
ID28562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mettl16
Ensembl Gene ENSMUSG00000010554
Gene Namemethyltransferase like 16
Synonyms2810013M15Rik, Mett10d, 2610100D03Rik, A830095F14Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00945
Quality Score
Status
Chromosome11
Chromosomal Location74770830-74828525 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 74817366 bp
ZygosityHeterozygous
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]
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: 35,837,020 I101V probably damaging Het
Aldh5a1 A G 13: 24,926,158 probably benign Het
Arhgef28 A C 13: 97,967,399 L728R possibly damaging Het
Dct G A 14: 118,040,504 T218M probably damaging Het
Hcn2 C T 10: 79,733,803 R546* probably null Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Lap3 A G 5: 45,504,773 probably null Het
Myh13 G A 11: 67,348,006 R725Q probably null Het
Nf1 T C 11: 79,469,803 F1436L probably damaging Het
Nod1 C T 6: 54,944,586 probably null Het
Olfr811 A T 10: 129,801,907 V206E possibly damaging Het
Pde5a T A 3: 122,835,642 probably null Het
Pja2 T C 17: 64,309,396 Y168C probably benign Het
Plod2 A G 9: 92,584,496 I170V probably benign Het
Pop5 A G 5: 115,240,559 probably benign Het
Sdk1 G T 5: 142,084,613 probably null Het
Sema3f G A 9: 107,685,522 S420L probably benign Het
Shtn1 C T 19: 59,018,952 E289K possibly damaging Het
Smarca1 A T X: 47,858,301 Y526* probably null Het
Sptan1 T C 2: 30,000,071 probably benign Het
St7l C A 3: 104,926,482 H486Q probably damaging Het
Tcte1 C A 17: 45,541,189 F449L probably benign Het
Tmem131 A G 1: 36,827,005 probably benign Het
Trim46 A G 3: 89,244,418 probably benign Het
Wwp1 A T 4: 19,640,193 probably null Het
Zc3h13 A G 14: 75,330,147 D960G probably damaging Het
Other mutations in Mettl16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Mettl16 APN 11 74792267 nonsense probably null
IGL01893:Mettl16 APN 11 74805271 missense possibly damaging 0.84
IGL02079:Mettl16 APN 11 74817624 missense probably damaging 1.00
IGL03217:Mettl16 APN 11 74817703 missense probably damaging 1.00
R2014:Mettl16 UTSW 11 74817369 missense probably benign
R2117:Mettl16 UTSW 11 74802929 missense probably benign
R4042:Mettl16 UTSW 11 74792292 missense probably damaging 1.00
R4773:Mettl16 UTSW 11 74817301 missense possibly damaging 0.49
R5031:Mettl16 UTSW 11 74802999 missense probably benign
R5056:Mettl16 UTSW 11 74816940 missense probably benign 0.34
R5951:Mettl16 UTSW 11 74795997 missense possibly damaging 0.71
R5986:Mettl16 UTSW 11 74792237 missense possibly damaging 0.51
R6012:Mettl16 UTSW 11 74787648 missense probably damaging 1.00
R6314:Mettl16 UTSW 11 74796006 nonsense probably null
R6450:Mettl16 UTSW 11 74805338 missense probably benign 0.02
R7744:Mettl16 UTSW 11 74803003 missense probably benign 0.08
R8086:Mettl16 UTSW 11 74805265 missense probably benign 0.03
R8160:Mettl16 UTSW 11 74817679 missense probably damaging 0.99
X0012:Mettl16 UTSW 11 74817025 missense probably benign 0.02
X0028:Mettl16 UTSW 11 74817044 critical splice donor site probably null
Posted On2013-04-17