Incidental Mutation 'IGL00771:Trmt10a'
ID 14587
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt10a
Ensembl Gene ENSMUSG00000004127
Gene Name tRNA methyltransferase 10A
Synonyms 3110023L08Rik, Rg9mtd2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00771
Quality Score
Status
Chromosome 3
Chromosomal Location 137849214-137865582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137856216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 159 (D159G)
Ref Sequence ENSEMBL: ENSMUSP00000125749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040321] [ENSMUST00000159481] [ENSMUST00000159622] [ENSMUST00000161141] [ENSMUST00000162864]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040321
AA Change: D159G

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000042082
Gene: ENSMUSG00000004127
AA Change: D159G

DomainStartEndE-ValueType
low complexity region 44 82 N/A INTRINSIC
Pfam:tRNA_m1G_MT 111 277 3.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159481
SMART Domains Protein: ENSMUSP00000124465
Gene: ENSMUSG00000004127

DomainStartEndE-ValueType
coiled coil region 44 85 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159622
SMART Domains Protein: ENSMUSP00000130478
Gene: ENSMUSG00000004127

DomainStartEndE-ValueType
low complexity region 44 67 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161141
AA Change: D159G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000125681
Gene: ENSMUSG00000004127
AA Change: D159G

DomainStartEndE-ValueType
low complexity region 44 82 N/A INTRINSIC
Pfam:tRNA_m1G_MT 111 165 2.6e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161791
Predicted Effect probably benign
Transcript: ENSMUST00000162864
AA Change: D159G

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000125749
Gene: ENSMUSG00000004127
AA Change: D159G

DomainStartEndE-ValueType
low complexity region 44 82 N/A INTRINSIC
Pfam:tRNA_m1G_MT 111 277 2.7e-33 PFAM
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 protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased circulating magnesium level. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A G 17: 48,452,855 (GRCm39) L28S possibly damaging Het
Abca13 T A 11: 9,240,870 (GRCm39) L911Q probably damaging Het
Armc9 C A 1: 86,127,557 (GRCm39) probably null Het
Asxl2 A G 12: 3,524,560 (GRCm39) H196R probably damaging Het
Atm T C 9: 53,404,354 (GRCm39) D1329G probably benign Het
Cds2 T C 2: 132,146,272 (GRCm39) probably benign Het
Cep295 A T 9: 15,233,861 (GRCm39) C2184S probably damaging Het
Cpeb2 T C 5: 43,394,890 (GRCm39) F623L possibly damaging Het
Dmd G A X: 82,951,978 (GRCm39) probably null Het
F11r T A 1: 171,290,510 (GRCm39) probably null Het
Gbp3 C T 3: 142,271,005 (GRCm39) probably benign Het
Gpc4 A G X: 51,163,527 (GRCm39) S119P possibly damaging Het
H2-M10.2 A G 17: 36,597,288 (GRCm39) L9P probably damaging Het
Ica1l T C 1: 60,053,106 (GRCm39) D144G probably damaging Het
Jaml A G 9: 45,005,105 (GRCm39) K124E possibly damaging Het
Lamc2 T C 1: 153,005,802 (GRCm39) N950S probably benign Het
Ltbp1 A T 17: 75,669,511 (GRCm39) D1099V probably damaging Het
Mlxipl C T 5: 135,161,632 (GRCm39) T517I probably damaging Het
Nbeal1 C T 1: 60,274,512 (GRCm39) R308C probably benign Het
Nlrp1a A T 11: 71,013,567 (GRCm39) L561* probably null Het
Prom1 A T 5: 44,187,118 (GRCm39) probably benign Het
Ptprc T A 1: 138,041,415 (GRCm39) E148V probably benign Het
Rap1gap T C 4: 137,443,835 (GRCm39) V224A probably damaging Het
Slc7a6 T C 8: 106,905,872 (GRCm39) S35P probably benign Het
Snx17 C T 5: 31,354,679 (GRCm39) R314C probably damaging Het
Spats2l T C 1: 57,982,231 (GRCm39) L371P probably damaging Het
Spsb1 C T 4: 149,991,564 (GRCm39) M1I probably null Het
Sv2a G A 3: 96,100,600 (GRCm39) V661I probably benign Het
Taar7b T A 10: 23,876,096 (GRCm39) V87E probably benign Het
Tcf7l2 G A 19: 55,905,853 (GRCm39) V292I probably damaging Het
Teddm1b T A 1: 153,750,340 (GRCm39) C50S possibly damaging Het
Urod T C 4: 116,847,581 (GRCm39) N336S probably damaging Het
Usp8 A G 2: 126,567,353 (GRCm39) probably null Het
Zfp182 A G X: 20,896,896 (GRCm39) Y467H probably damaging Het
Other mutations in Trmt10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Trmt10a APN 3 137,853,177 (GRCm39) missense probably damaging 0.97
IGL00563:Trmt10a APN 3 137,853,177 (GRCm39) missense probably damaging 0.97
IGL01140:Trmt10a APN 3 137,862,459 (GRCm39) splice site probably benign
IGL02869:Trmt10a APN 3 137,857,945 (GRCm39) splice site probably null
R0898:Trmt10a UTSW 3 137,855,279 (GRCm39) missense probably damaging 1.00
R0975:Trmt10a UTSW 3 137,862,570 (GRCm39) missense probably benign 0.41
R1511:Trmt10a UTSW 3 137,857,945 (GRCm39) splice site probably null
R1872:Trmt10a UTSW 3 137,862,481 (GRCm39) missense probably damaging 1.00
R4856:Trmt10a UTSW 3 137,854,146 (GRCm39) nonsense probably null
R4880:Trmt10a UTSW 3 137,857,972 (GRCm39) missense possibly damaging 0.64
R4886:Trmt10a UTSW 3 137,854,146 (GRCm39) nonsense probably null
R5399:Trmt10a UTSW 3 137,853,265 (GRCm39) missense probably damaging 0.97
R5516:Trmt10a UTSW 3 137,857,957 (GRCm39) missense possibly damaging 0.91
R5994:Trmt10a UTSW 3 137,862,475 (GRCm39) missense probably damaging 1.00
R7272:Trmt10a UTSW 3 137,860,527 (GRCm39) missense probably damaging 1.00
X0028:Trmt10a UTSW 3 137,860,556 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06