Incidental Mutation 'R8524:Mettl1'
ID 658723
Institutional Source Beutler Lab
Gene Symbol Mettl1
Ensembl Gene ENSMUSG00000006732
Gene Name methyltransferase 1, tRNA methylguanosine
Synonyms 2810012D02Rik
MMRRC Submission 067949-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R8524 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 126877287-126882234 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126877908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 21 (S21P)
Ref Sequence ENSEMBL: ENSMUSP00000113030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006915] [ENSMUST00000116231] [ENSMUST00000120542] [ENSMUST00000152960]
AlphaFold Q9Z120
Predicted Effect possibly damaging
Transcript: ENSMUST00000006915
AA Change: S21P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006915
Gene: ENSMUSG00000006732
AA Change: S21P

DomainStartEndE-ValueType
Pfam:Methyltransf_4 70 248 3.5e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116231
SMART Domains Protein: ENSMUSP00000111939
Gene: ENSMUSG00000080115

DomainStartEndE-ValueType
Pfam:Methyltransf_16 35 198 4.4e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120542
AA Change: S21P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113030
Gene: ENSMUSG00000006732
AA Change: S21P

DomainStartEndE-ValueType
Pfam:Methyltransf_4 29 191 3.9e-44 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000118885
Gene: ENSMUSG00000006732
AA Change: S19P

DomainStartEndE-ValueType
PDB:3CKK|A 24 85 3e-34 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000152960
Meta Mutation Damage Score 0.2807 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc65 A T 15: 98,606,990 (GRCm39) T66S probably benign Het
Cers1 G A 8: 70,783,898 (GRCm39) G282D probably damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Col25a1 C A 3: 130,342,873 (GRCm39) P350H probably damaging Het
Coq5 T C 5: 115,422,612 (GRCm39) I172T probably damaging Het
Dand5 A T 8: 85,549,056 (GRCm39) L85* probably null Het
Dnah8 T A 17: 30,934,472 (GRCm39) W1486R possibly damaging Het
Dpp8 T C 9: 64,950,989 (GRCm39) Y142H probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gng7 T A 10: 80,787,537 (GRCm39) H42L possibly damaging Het
Gps2 T C 11: 69,805,832 (GRCm39) V93A probably damaging Het
Hspa9 T C 18: 35,087,297 (GRCm39) S3G unknown Het
Impg2 A G 16: 56,038,757 (GRCm39) N132D probably benign Het
Jak2 A T 19: 29,273,105 (GRCm39) N643I probably damaging Het
Kcng2 T C 18: 80,338,896 (GRCm39) D464G probably benign Het
Kdm4b T A 17: 56,706,384 (GRCm39) C833S probably damaging Het
Ly86 G A 13: 37,560,869 (GRCm39) D77N probably damaging Het
Map7 G A 10: 20,142,569 (GRCm39) A330T probably benign Het
Mga A G 2: 119,771,997 (GRCm39) Y1540C probably damaging Het
Mpp4 A G 1: 59,183,840 (GRCm39) L300P probably damaging Het
Mycbp2 A G 14: 103,392,895 (GRCm39) M3222T probably benign Het
Nat8f6 A G 6: 85,785,541 (GRCm39) Y203H probably benign Het
Nod1 C T 6: 54,925,060 (GRCm39) E84K probably damaging Het
Or10v9 A G 19: 11,832,445 (GRCm39) Y291H probably damaging Het
Or2b28 T C 13: 21,531,248 (GRCm39) V50A probably benign Het
Or8k28 T C 2: 86,285,961 (GRCm39) Y218C probably damaging Het
Padi2 A G 4: 140,677,006 (GRCm39) N598S possibly damaging Het
Pclo C T 5: 14,729,521 (GRCm39) probably benign Het
Pdik1l T G 4: 134,013,921 (GRCm39) E12D probably benign Het
Plcg1 G A 2: 160,603,387 (GRCm39) probably null Het
Rasgrf1 A G 9: 89,797,638 (GRCm39) H172R possibly damaging Het
Rnf41 C G 10: 128,271,299 (GRCm39) R70G possibly damaging Het
Rsbn1 A T 3: 103,835,687 (GRCm39) K203* probably null Het
Setbp1 T C 18: 78,901,969 (GRCm39) D566G probably damaging Het
Slc7a14 A C 3: 31,278,282 (GRCm39) V441G possibly damaging Het
Sorl1 T A 9: 41,885,370 (GRCm39) N2077I probably damaging Het
Spryd3 G A 15: 102,026,583 (GRCm39) R363* probably null Het
St6galnac1 G T 11: 116,658,547 (GRCm39) R306S possibly damaging Het
Tmem245 T C 4: 56,906,261 (GRCm39) Q548R probably benign Het
Trim35 C T 14: 66,544,493 (GRCm39) R276C probably damaging Het
Trim55 A T 3: 19,725,113 (GRCm39) D210V probably benign Het
Tsg101 A T 7: 46,542,115 (GRCm39) D279E probably benign Het
Other mutations in Mettl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01880:Mettl1 APN 10 126,880,492 (GRCm39) missense probably damaging 0.99
R0401:Mettl1 UTSW 10 126,880,946 (GRCm39) missense probably benign 0.03
R3890:Mettl1 UTSW 10 126,880,998 (GRCm39) critical splice donor site probably null
R5209:Mettl1 UTSW 10 126,881,203 (GRCm39) missense possibly damaging 0.87
R5338:Mettl1 UTSW 10 126,878,954 (GRCm39) missense probably damaging 1.00
R5738:Mettl1 UTSW 10 126,877,863 (GRCm39) nonsense probably null
R6092:Mettl1 UTSW 10 126,877,843 (GRCm39) intron probably benign
R6996:Mettl1 UTSW 10 126,880,887 (GRCm39) missense probably benign 0.10
R7228:Mettl1 UTSW 10 126,881,152 (GRCm39) missense probably benign
R7877:Mettl1 UTSW 10 126,880,390 (GRCm39) missense possibly damaging 0.68
R9123:Mettl1 UTSW 10 126,880,911 (GRCm39) missense possibly damaging 0.68
R9176:Mettl1 UTSW 10 126,881,250 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTACAGAATTTGCTCTTCGC -3'
(R):5'- CTAGATCTGGCTGGCAAGTC -3'

Sequencing Primer
(F):5'- CTTCGCTCTTTAAAAGGCGG -3'
(R):5'- TTTAAGTCTCCAACACCGCG -3'
Posted On 2021-01-18