Incidental Mutation 'IGL01558:Trmt2b'
ID 90783
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 # IGL01558
Quality Score
Status
Chromosome X
Chromosomal Location 133123704-133177770 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 133139305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Isoleucine at position 389 (R389I)
Ref Sequence ENSEMBL: ENSMUSP00000138612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087541] [ENSMUST00000113252] [ENSMUST00000128115]
AlphaFold Q8BQJ6
Predicted Effect possibly damaging
Transcript: ENSMUST00000087541
AA Change: R389I

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000084820
Gene: ENSMUSG00000067369
AA Change: R389I

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: R389I

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108878
Gene: ENSMUSG00000067369
AA Change: R389I

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: R389I

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138612
Gene: ENSMUSG00000067369
AA Change: R389I

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 77,036,464 (GRCm39) E359G possibly damaging Het
Agtr1b T C 3: 20,370,424 (GRCm39) T61A probably damaging Het
Casd1 T A 6: 4,624,143 (GRCm39) I312N possibly damaging Het
Cebpz A T 17: 79,242,734 (GRCm39) F307I probably damaging Het
Dhx33 T C 11: 70,890,579 (GRCm39) R207G probably benign Het
G0s2 T C 1: 192,955,003 (GRCm39) Y27C probably damaging Het
Glg1 A T 8: 111,914,362 (GRCm39) M474K probably benign Het
Macf1 T C 4: 123,346,798 (GRCm39) N2490S probably benign Het
Mpdz C A 4: 81,213,767 (GRCm39) E1565* probably null Het
Mthfsl A G 9: 88,570,870 (GRCm39) I126T possibly damaging Het
Nectin4 A G 1: 171,212,257 (GRCm39) D285G probably benign Het
Neurod1 T C 2: 79,284,363 (GRCm39) H340R possibly damaging Het
Nop53 G A 7: 15,679,751 (GRCm39) probably benign Het
Siglec1 A G 2: 130,920,419 (GRCm39) L795P probably damaging Het
Sntg1 A T 1: 8,533,612 (GRCm39) probably benign Het
Stk33 T C 7: 108,940,491 (GRCm39) probably benign Het
Stox1 C T 10: 62,503,651 (GRCm39) V135M probably damaging Het
Sult2a8 C A 7: 14,159,377 (GRCm39) E81* probably null Het
Tdrd6 A G 17: 43,936,659 (GRCm39) V1463A probably damaging Het
Tdrd6 C T 17: 43,935,657 (GRCm39) G1797D probably benign Het
Ttc28 G T 5: 111,431,828 (GRCm39) V1903L probably damaging Het
Other mutations in Trmt2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Trmt2b APN X 133,168,154 (GRCm39) missense possibly damaging 0.95
IGL02438:Trmt2b APN X 133,143,832 (GRCm39) missense probably benign 0.01
Posted On 2013-12-09