Incidental Mutation 'IGL01880:Mettl1'
ID 179017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mettl1
Ensembl Gene ENSMUSG00000006732
Gene Name methyltransferase 1, tRNA methylguanosine
Synonyms 2810012D02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # IGL01880
Quality Score
Status
Chromosome 10
Chromosomal Location 126877287-126882234 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126880492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 138 (H138R)
Ref Sequence ENSEMBL: ENSMUSP00000113030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006915] [ENSMUST00000116231] [ENSMUST00000120542] [ENSMUST00000152960] [ENSMUST00000165764] [ENSMUST00000172069]
AlphaFold Q9Z120
Predicted Effect possibly damaging
Transcript: ENSMUST00000006915
AA Change: H138R

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000006915
Gene: ENSMUSG00000006732
AA Change: H138R

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: H138R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113030
Gene: ENSMUSG00000006732
AA Change: H138R

DomainStartEndE-ValueType
Pfam:Methyltransf_4 29 191 3.9e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135655
Predicted Effect probably benign
Transcript: ENSMUST00000139486
SMART Domains Protein: ENSMUSP00000118885
Gene: ENSMUSG00000006732

DomainStartEndE-ValueType
PDB:3CKK|A 24 85 3e-34 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000152960
Predicted Effect probably benign
Transcript: ENSMUST00000165764
SMART Domains Protein: ENSMUSP00000130005
Gene: ENSMUSG00000006724

DomainStartEndE-ValueType
Pfam:p450 40 504 7.1e-97 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171868
Predicted Effect probably benign
Transcript: ENSMUST00000172069
Coding Region Coverage
Validation Efficiency
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,184,089 (GRCm39) T1003A probably benign Het
Capn8 T C 1: 182,425,141 (GRCm39) F143S probably damaging Het
Dnaaf2 A T 12: 69,236,811 (GRCm39) L766I probably benign Het
Gle1 T A 2: 29,833,762 (GRCm39) S386R possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Klrb1 A T 6: 128,689,282 (GRCm39) V63E possibly damaging Het
Or7c19 A G 8: 85,957,712 (GRCm39) N196S probably benign Het
Or8g2 T A 9: 39,821,237 (GRCm39) I46N possibly damaging Het
Phf8-ps C A 17: 33,285,690 (GRCm39) V371L probably damaging Het
Ppp1r12b A G 1: 134,814,159 (GRCm39) probably null Het
Shtn1 A C 19: 59,063,881 (GRCm39) probably benign Het
Slc22a15 T C 3: 101,768,164 (GRCm39) R503G probably benign Het
Smarcd2 G A 11: 106,157,503 (GRCm39) R148W probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Ssc5d T A 7: 4,936,218 (GRCm39) V488E probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r57 A G 7: 41,049,619 (GRCm39) I710T possibly damaging Het
Vps41 T G 13: 18,994,641 (GRCm39) S163A probably benign Het
Zc3h6 C T 2: 128,859,298 (GRCm39) L1110F probably damaging Het
Other mutations in Mettl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8524:Mettl1 UTSW 10 126,877,908 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-05-07