Incidental Mutation 'IGL01893:Mettl16'
ID179287
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 #IGL01893
Quality Score
Status
Chromosome11
Chromosomal Location74770830-74828525 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 74805271 bp
ZygosityHeterozygous
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]
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: 116,788,549 I275F probably damaging Het
Avil G A 10: 127,020,546 E815K possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Car9 T A 4: 43,510,252 I278N probably damaging Het
Cast T A 13: 74,727,289 K480* probably null Het
Cenpj A G 14: 56,553,474 F373L probably damaging Het
Cspp1 T C 1: 10,134,141 probably null Het
Diaph3 G A 14: 86,918,852 T675I possibly damaging Het
Dip2b A T 15: 100,171,220 probably benign Het
Dnah1 T C 14: 31,266,470 D3425G probably damaging Het
Dolk A G 2: 30,285,914 Y40H probably benign Het
Drosha T C 15: 12,866,650 probably benign Het
Dusp15 A G 2: 152,949,036 probably null Het
Edrf1 T C 7: 133,657,102 F770L probably benign Het
Gabra1 T C 11: 42,133,759 K363R possibly damaging Het
Glipr1l1 A C 10: 112,076,169 T203P probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
H2-Q10 T C 17: 35,473,271 S270P probably damaging Het
Hipk2 A T 6: 38,818,395 M313K probably benign Het
Htt T A 5: 34,876,830 I1920N probably damaging Het
Lsr A T 7: 30,962,232 V210E possibly damaging Het
Mbtd1 A T 11: 93,921,412 I181L probably null Het
Mlst8 T C 17: 24,477,987 N74D probably benign Het
Nek9 A G 12: 85,336,400 I102T probably damaging Het
Nme7 C T 1: 164,345,281 A187V probably damaging Het
Nphp1 A T 2: 127,769,644 W261R probably damaging Het
Olfr1148 G T 2: 87,833,863 G275* probably null Het
Olfr1306 A T 2: 111,912,244 S229T possibly damaging Het
Olfr90 A G 17: 37,085,868 L99P probably damaging Het
Orc6 A G 8: 85,307,643 D165G probably damaging Het
Ovca2 A G 11: 75,178,307 S89P probably benign Het
Pcdhb12 T G 18: 37,437,210 S470A probably benign Het
Phactr2 T C 10: 13,247,188 T397A probably benign Het
Pms2 T C 5: 143,923,519 L50P probably damaging Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Serpinb11 C A 1: 107,377,657 S254R probably benign Het
Serpinb11 C A 1: 107,377,658 Q255K probably benign Het
Skap2 T C 6: 51,874,576 T79A probably damaging Het
Tbx19 A T 1: 165,140,198 S327T possibly damaging Het
Themis3 A G 17: 66,559,627 L206P possibly damaging Het
Tmem132c T A 5: 127,463,029 L373Q possibly damaging Het
Unc13c G T 9: 73,693,366 N1365K probably benign Het
Vmn2r106 A T 17: 20,277,468 M503K probably benign Het
Vmn2r33 A G 7: 7,563,777 I112T probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13a A C 19: 16,663,775 W2328G probably damaging 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
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 On2014-05-07