Incidental Mutation 'IGL00824:Trmt2b'
ID14588
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt2b
Ensembl Gene ENSMUSG00000067369
Gene NameTRM2 tRNA methyltransferase 2B
Synonyms4732479N06Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00824
Quality Score
Status
ChromosomeX
Chromosomal Location134222339-134276984 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 134267405 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 47 (I47M)
Ref Sequence ENSEMBL: ENSMUSP00000138612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087540] [ENSMUST00000087541] [ENSMUST00000113252] [ENSMUST00000128115]
Predicted Effect possibly damaging
Transcript: ENSMUST00000087540
AA Change: I47M

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000087541
AA Change: I47M

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084820
Gene: ENSMUSG00000067369
AA Change: I47M

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 possibly damaging
Transcript: ENSMUST00000113252
AA Change: I47M

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108878
Gene: ENSMUSG00000067369
AA Change: I47M

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 possibly damaging
Transcript: ENSMUST00000128115
AA Change: I47M

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138612
Gene: ENSMUSG00000067369
AA Change: I47M

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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,683,589 I837V possibly damaging Het
Atl1 A G 12: 69,932,238 T147A probably damaging Het
Cdh17 A G 4: 11,784,675 K277R probably benign Het
Cyp2j5 A G 4: 96,663,923 F30L probably benign Het
Hmcn1 A T 1: 150,656,734 V3134E probably damaging Het
Il2ra T C 2: 11,683,099 V230A probably benign Het
Mgst2 C T 3: 51,682,578 P146S probably benign Het
Myrfl T C 10: 116,849,359 probably benign Het
Nat8f5 A C 6: 85,817,297 L227R probably damaging Het
Osbpl2 G A 2: 180,150,267 V255M probably benign Het
Papln A G 12: 83,770,436 S27G possibly damaging Het
Paqr7 A G 4: 134,506,967 Y45C probably damaging Het
Pkhd1 A G 1: 20,081,184 probably null Het
Plrg1 C T 3: 83,068,335 T295I probably damaging Het
Sypl T A 12: 32,965,506 probably benign Het
Tmco3 T A 8: 13,292,825 V187E probably damaging Het
Vmn2r61 T A 7: 42,267,014 N350K probably benign Het
Zfp687 A G 3: 95,009,185 L842P probably damaging Het
Other mutations in Trmt2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01558:Trmt2b APN X 134238556 missense possibly damaging 0.94
IGL02438:Trmt2b APN X 134243083 missense probably benign 0.01
Posted On2012-12-06