Incidental Mutation 'IGL03217:Mettl16'
ID413502
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 #IGL03217
Quality Score
Status
Chromosome11
Chromosomal Location74770830-74828525 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 74817703 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 536 (M536K)
Ref Sequence ENSEMBL: ENSMUSP00000114682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010698] [ENSMUST00000092912] [ENSMUST00000141755]
Predicted Effect probably damaging
Transcript: ENSMUST00000010698
AA Change: M576K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000010698
Gene: ENSMUSG00000010554
AA Change: M576K

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 damaging
Transcript: ENSMUST00000141755
AA Change: M536K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114682
Gene: ENSMUSG00000010554
AA Change: M536K

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,349,995 I29T probably damaging Het
Adam2 G A 14: 66,034,813 P640L possibly damaging Het
Ccl4 T C 11: 83,662,678 S6P unknown Het
Cd300lf T A 11: 115,124,291 T151S possibly damaging Het
Elk4 A G 1: 132,018,040 T219A probably benign Het
Eml1 G T 12: 108,534,942 E680D probably benign Het
Gm9755 T C 8: 67,514,383 noncoding transcript Het
Hmcn1 A T 1: 150,743,667 I1232N possibly damaging Het
Maml2 T C 9: 13,619,999 S170P probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nxf2 T C X: 134,955,532 I287V probably benign Het
Nyap2 A G 1: 81,087,322 D17G probably damaging Het
Pde6b T C 5: 108,419,566 C270R probably damaging Het
Ptchd1 T C X: 155,573,959 D750G probably damaging Het
Rrn3 G A 16: 13,809,011 E490K possibly damaging Het
Slc27a2 G A 2: 126,586,252 G519D possibly damaging Het
Sox5 A G 6: 143,907,497 S352P probably damaging Het
Spg20 G T 3: 55,128,491 probably benign Het
Sult1e1 T C 5: 87,590,088 T45A possibly damaging Het
Tat G A 8: 109,995,186 V242I probably benign Het
Zfp442 A G 2: 150,409,794 probably benign Het
Other mutations in Mettl16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Mettl16 APN 11 74817366 missense probably benign 0.11
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
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 On2016-08-02