Incidental Mutation 'R6687:Mettl18'
ID 527817
Institutional Source Beutler Lab
Gene Symbol Mettl18
Ensembl Gene ENSMUSG00000041396
Gene Name methyltransferase like 18
Synonyms 2810422O20Rik
MMRRC Submission 044805-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R6687 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 163822458-163824812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 163824369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 230 (D230G)
Ref Sequence ENSEMBL: ENSMUSP00000107116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045694] [ENSMUST00000045876] [ENSMUST00000097493] [ENSMUST00000111490] [ENSMUST00000160926]
AlphaFold Q9CZ09
Predicted Effect possibly damaging
Transcript: ENSMUST00000045694
AA Change: D230G

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048636
Gene: ENSMUSG00000041396
AA Change: D230G

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 possibly damaging
Transcript: ENSMUST00000111490
AA Change: D230G

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107116
Gene: ENSMUSG00000041396
AA Change: D230G

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: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,248,392 (GRCm39) V688A probably benign Het
AI661453 A G 17: 47,777,927 (GRCm39) probably benign Het
Atp6ap1l A G 13: 91,034,842 (GRCm39) F180S probably benign Het
Cfd G A 10: 79,727,553 (GRCm39) V77M probably damaging Het
Col5a2 A T 1: 45,422,764 (GRCm39) L1151H probably damaging Het
Dennd3 G A 15: 73,428,215 (GRCm39) V854M possibly damaging Het
Dlg5 C T 14: 24,240,441 (GRCm39) R247Q probably damaging Het
Fam3c G C 6: 22,328,669 (GRCm39) P53A probably benign Het
Gpbp1 T C 13: 111,574,619 (GRCm39) N302D possibly damaging Het
Hmcn1 A G 1: 150,620,784 (GRCm39) V1142A probably benign Het
Ighv9-3 G A 12: 114,104,544 (GRCm39) S40F probably damaging Het
Insr C T 8: 3,248,111 (GRCm39) R478H probably benign Het
Kcna2 C A 3: 107,012,343 (GRCm39) S308Y probably damaging Het
Larp1 A G 11: 57,948,156 (GRCm39) D985G probably damaging Het
Loxl3 A T 6: 83,027,645 (GRCm39) H729L probably damaging Het
Lrrc14b T C 13: 74,508,881 (GRCm39) M509V probably benign Het
Lrrc8e A G 8: 4,284,798 (GRCm39) Y341C probably damaging Het
Mup12 T C 4: 60,697,308 (GRCm39) probably benign Het
Myo1c T C 11: 75,563,027 (GRCm39) S1020P probably benign Het
Or3a4 C A 11: 73,945,210 (GRCm39) R125L probably damaging Het
Phkb T C 8: 86,756,175 (GRCm39) I823T probably damaging Het
Psmb5 C A 14: 54,854,130 (GRCm39) R116L probably damaging Het
Rpap2 T C 5: 107,751,496 (GRCm39) probably null Het
Rpl38 T C 11: 114,559,594 (GRCm39) probably benign Het
Scn8a T C 15: 100,872,508 (GRCm39) F516L probably benign Het
Slc51a A T 16: 32,298,543 (GRCm39) D71E probably damaging Het
Slco1a6 T C 6: 142,045,076 (GRCm39) E470G possibly damaging Het
Spag17 C A 3: 100,000,266 (GRCm39) H1811N probably benign Het
Sycp2 C T 2: 177,996,753 (GRCm39) C1150Y probably damaging Het
Ttc12 A G 9: 49,349,718 (GRCm39) V693A probably benign Het
Wdr83 C T 8: 85,806,778 (GRCm39) V101I probably benign Het
Wnt3 G T 11: 103,703,411 (GRCm39) R298L probably damaging 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
R6730:Mettl18 UTSW 1 163,824,750 (GRCm39) missense probably damaging 1.00
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'- AAGTGAAATTTGCTGGGCAG -3'
(R):5'- CCGGCCACTCCTACTTAATAG -3'

Sequencing Primer
(F):5'- CAGAAAGTGTTAGACCTTGGCTG -3'
(R):5'- CATGCAAAGTGCTGTAATAATCCGG -3'
Posted On 2018-07-23