Incidental Mutation 'IGL02438:Trmt2b'
ID 293358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt2b
Ensembl Gene ENSMUSG00000067369
Gene Name TRM2 tRNA methyltransferase 2B
Synonyms 4732479N06Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02438
Quality Score
Status
Chromosome X
Chromosomal Location 133123704-133177770 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 133143832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 219 (V219L)
Ref Sequence ENSEMBL: ENSMUSP00000138612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087541] [ENSMUST00000113252] [ENSMUST00000128115]
AlphaFold Q8BQJ6
Predicted Effect probably benign
Transcript: ENSMUST00000087541
AA Change: V219L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000084820
Gene: ENSMUSG00000067369
AA Change: V219L

DomainStartEndE-ValueType
Pfam:tRNA_U5-meth_tr 300 493 4.3e-9 PFAM
Pfam:MTS 310 427 2.3e-8 PFAM
Pfam:Methyltransf_31 332 455 1.7e-13 PFAM
Pfam:Methyltransf_18 333 440 2.3e-9 PFAM
Pfam:Methyltransf_25 337 444 2.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113252
AA Change: V219L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108878
Gene: ENSMUSG00000067369
AA Change: V219L

DomainStartEndE-ValueType
Pfam:tRNA_U5-meth_tr 299 493 2.4e-9 PFAM
Pfam:MTS 300 427 1.3e-9 PFAM
Pfam:Methyltransf_31 331 458 1.3e-13 PFAM
Pfam:Methyltransf_18 333 446 1.4e-8 PFAM
Pfam:Methyltransf_26 334 451 8.4e-11 PFAM
Pfam:Methyltransf_25 337 444 2.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128115
AA Change: V219L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000138612
Gene: ENSMUSG00000067369
AA Change: V219L

DomainStartEndE-ValueType
Pfam:tRNA_U5-meth_tr 299 423 2.2e-8 PFAM
Pfam:MTS 300 422 1.1e-10 PFAM
Pfam:Methyltransf_31 331 423 2.7e-14 PFAM
Pfam:Methyltransf_18 333 426 2.8e-9 PFAM
Pfam:Methyltransf_26 334 426 1.6e-11 PFAM
Pfam:Methyltransf_25 337 420 1.2e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145066
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 encodes a homolog of the TRM2 gene in S. cerevisiae. The yeast gene encodes a tRNA methyltransferase that plays a role in tRNA maturation. The yeast protein also has endo-exonuclease activity and may be involved in DNA double strand break repair. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Nov 2009]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,639,101 (GRCm39) N648S probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dna2 A G 10: 62,792,841 (GRCm39) I285M possibly damaging Het
Fbxw8 A G 5: 118,233,758 (GRCm39) F291S probably benign Het
Gm6619 T C 6: 131,467,398 (GRCm39) S88P possibly damaging Het
Ist1 A G 8: 110,402,002 (GRCm39) probably benign Het
Muc13 T A 16: 33,628,350 (GRCm39) S367T possibly damaging Het
Necab3 T A 2: 154,387,964 (GRCm39) D284V probably damaging Het
Nit2 G A 16: 56,981,511 (GRCm39) Q83* probably null Het
Ppcs A G 4: 119,278,889 (GRCm39) probably benign Het
Slc26a2 G T 18: 61,335,289 (GRCm39) H55N possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ugt3a1 A G 15: 9,292,062 (GRCm39) D27G possibly damaging Het
Vmn2r74 A G 7: 85,601,824 (GRCm39) F605L probably damaging Het
Vmn2r79 T C 7: 86,651,744 (GRCm39) L381P probably damaging Het
Other mutations in Trmt2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Trmt2b APN X 133,168,154 (GRCm39) missense possibly damaging 0.95
IGL01558:Trmt2b APN X 133,139,305 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16