Incidental Mutation 'R6730:Mettl18'
ID 529997
Institutional Source Beutler Lab
Gene Symbol Mettl18
Ensembl Gene ENSMUSG00000041396
Gene Name methyltransferase like 18
Synonyms 2810422O20Rik
MMRRC Submission 044848-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R6730 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 163822458-163824812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 163824750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 357 (T357I)
Ref Sequence ENSEMBL: ENSMUSP00000107116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045694] [ENSMUST00000045876] [ENSMUST00000097493] [ENSMUST00000111490] [ENSMUST00000160926]
AlphaFold Q9CZ09
Predicted Effect probably damaging
Transcript: ENSMUST00000045694
AA Change: T357I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048636
Gene: ENSMUSG00000041396
AA Change: T357I

DomainStartEndE-ValueType
Pfam:Methyltransf_16 150 233 7.3e-7 PFAM
Pfam:PrmA 166 240 2.1e-7 PFAM
low complexity region 300 313 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000045876
SMART Domains Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:DUF4487 233 779 2.3e-209 PFAM
low complexity region 877 889 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097493
SMART Domains Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:DUF4487 233 779 1.3e-186 PFAM
low complexity region 877 889 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111490
AA Change: T357I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107116
Gene: ENSMUSG00000041396
AA Change: T357I

DomainStartEndE-ValueType
Pfam:MTS 147 232 4.5e-6 PFAM
Pfam:Methyltransf_16 149 233 3.6e-7 PFAM
Pfam:PrmA 166 238 2.7e-7 PFAM
low complexity region 300 313 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160926
SMART Domains Protein: ENSMUSP00000124826
Gene: ENSMUSG00000041406

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162949
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930455H04Rik T A 3: 116,777,124 (GRCm39) *59R probably null Het
Adam10 G T 9: 70,647,458 (GRCm39) probably null Het
Adam2 A T 14: 66,275,025 (GRCm39) N569K possibly damaging Het
Adam20 T C 8: 41,249,696 (GRCm39) V602A probably benign Het
Adgrb3 T C 1: 25,133,375 (GRCm39) Y1237C probably damaging Het
Ago3 T C 4: 126,265,338 (GRCm39) T318A probably null Het
Aknad1 G A 3: 108,659,655 (GRCm39) G223D possibly damaging Het
Camkv T C 9: 107,825,516 (GRCm39) S478P possibly damaging Het
Ccl27a T A 4: 41,773,342 (GRCm39) H39L probably damaging Het
Ccser2 C A 14: 36,601,043 (GRCm39) S447I probably damaging Het
Clvs2 A G 10: 33,404,517 (GRCm39) L233P probably damaging Het
Csn1s2b T A 5: 87,970,127 (GRCm39) H124Q probably benign Het
Dnhd1 T C 7: 105,353,082 (GRCm39) L2745P probably benign Het
Dync1i2 T A 2: 71,077,484 (GRCm39) F219L probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ephb6 C T 6: 41,594,308 (GRCm39) Q613* probably null Het
Erc2 A C 14: 27,620,524 (GRCm39) D50A possibly damaging Het
Fam149a T A 8: 45,834,211 (GRCm39) D196V probably damaging Het
Ficd T C 5: 113,876,773 (GRCm39) V316A probably damaging Het
Gstm6 T A 3: 107,850,041 (GRCm39) K18* probably null Het
Ighv1-62-1 A T 12: 115,350,512 (GRCm39) W52R probably benign Het
Klhl18 C T 9: 110,257,979 (GRCm39) C417Y probably damaging Het
Ly9 T A 1: 171,432,737 (GRCm39) Y92F probably benign Het
Myoz2 C A 3: 122,810,276 (GRCm39) G100C probably damaging Het
Or10a49 A T 7: 108,467,780 (GRCm39) F194I probably benign Het
Or4k47 A G 2: 111,452,080 (GRCm39) V113A probably damaging Het
Or7h8 T C 9: 20,123,798 (GRCm39) I51T probably benign Het
Pars2 C T 4: 106,510,628 (GRCm39) L128F probably damaging Het
Pcsk6 G T 7: 65,629,996 (GRCm39) R374L probably damaging Het
Ptpn3 T C 4: 57,270,088 (GRCm39) T25A probably benign Het
Rab11fip1 G A 8: 27,633,257 (GRCm39) P1150S probably damaging Het
Rabep1 A G 11: 70,831,212 (GRCm39) Q831R possibly damaging Het
Rad17 T C 13: 100,786,253 (GRCm39) probably benign Het
Rxfp1 T A 3: 79,557,898 (GRCm39) R527* probably null Het
Scnn1b C T 7: 121,502,100 (GRCm39) P253S probably damaging Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Slc2a7 T C 4: 150,242,605 (GRCm39) F231S probably damaging Het
Svil A G 18: 5,049,311 (GRCm39) N196S probably benign Het
Tent5c T A 3: 100,380,273 (GRCm39) N161I probably benign Het
Urb1 T C 16: 90,575,971 (GRCm39) S862G possibly damaging Het
Usp30 T C 5: 114,241,770 (GRCm39) S87P probably damaging Het
Vmn1r177 T A 7: 23,565,237 (GRCm39) H213L probably damaging Het
Vmn2r106 T A 17: 20,499,096 (GRCm39) I272L possibly damaging Het
Vmn2r120 T A 17: 57,832,012 (GRCm39) D259V probably benign Het
Other mutations in Mettl18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Mettl18 APN 1 163,823,795 (GRCm39) missense possibly damaging 0.83
IGL01989:Mettl18 APN 1 163,823,872 (GRCm39) missense probably benign 0.00
R0190:Mettl18 UTSW 1 163,823,991 (GRCm39) missense probably damaging 0.98
R0394:Mettl18 UTSW 1 163,823,910 (GRCm39) missense probably benign
R0562:Mettl18 UTSW 1 163,824,062 (GRCm39) missense probably benign 0.04
R2260:Mettl18 UTSW 1 163,824,394 (GRCm39) missense probably benign 0.28
R4293:Mettl18 UTSW 1 163,824,171 (GRCm39) missense probably damaging 1.00
R4626:Mettl18 UTSW 1 163,824,045 (GRCm39) missense probably damaging 1.00
R4749:Mettl18 UTSW 1 163,824,354 (GRCm39) missense probably benign 0.13
R5930:Mettl18 UTSW 1 163,824,746 (GRCm39) missense probably null 0.00
R5987:Mettl18 UTSW 1 163,824,344 (GRCm39) missense probably benign 0.04
R6503:Mettl18 UTSW 1 163,824,687 (GRCm39) missense possibly damaging 0.94
R6687:Mettl18 UTSW 1 163,824,369 (GRCm39) missense possibly damaging 0.73
R7457:Mettl18 UTSW 1 163,824,330 (GRCm39) missense probably damaging 1.00
R8343:Mettl18 UTSW 1 163,824,509 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTATTAAGTAGGAGTGGCCG -3'
(R):5'- CCCTCGGAACATGTTTATGGAGTG -3'

Sequencing Primer
(F):5'- GAGTGGCCGGGTGCTTC -3'
(R):5'- CAGTCACAAATTCTGGGGTAT -3'
Posted On 2018-08-01