Incidental Mutation 'IGL00771:Trmt10a'
ID14587
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt10a
Ensembl Gene ENSMUSG00000004127
Gene NametRNA methyltransferase 10A
Synonyms3110023L08Rik, Rg9mtd2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00771
Quality Score
Status
Chromosome3
Chromosomal Location138143448-138159821 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 138150455 bp
ZygosityHeterozygous
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]
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: 48,145,684 L28S possibly damaging Het
Abca13 T A 11: 9,290,870 L911Q probably damaging Het
Armc9 C A 1: 86,199,835 probably null Het
Asxl2 A G 12: 3,474,560 H196R probably damaging Het
Atm T C 9: 53,493,054 D1329G probably benign Het
Cds2 T C 2: 132,304,352 probably benign Het
Cep295 A T 9: 15,322,565 C2184S probably damaging Het
Cpeb2 T C 5: 43,237,547 F623L possibly damaging Het
Dmd G A X: 83,908,372 probably null Het
F11r T A 1: 171,462,942 probably null Het
Gbp3 C T 3: 142,565,244 probably benign Het
Gpc4 A G X: 52,074,650 S119P possibly damaging Het
H2-M10.2 A G 17: 36,286,396 L9P probably damaging Het
Ica1l T C 1: 60,013,947 D144G probably damaging Het
Jaml A G 9: 45,093,807 K124E possibly damaging Het
Lamc2 T C 1: 153,130,056 N950S probably benign Het
Ltbp1 A T 17: 75,362,516 D1099V probably damaging Het
Mlxipl C T 5: 135,132,778 T517I probably damaging Het
Nbeal1 C T 1: 60,235,353 R308C probably benign Het
Nlrp1a A T 11: 71,122,741 L561* probably null Het
Prom1 A T 5: 44,029,776 probably benign Het
Ptprc T A 1: 138,113,677 E148V probably benign Het
Rap1gap T C 4: 137,716,524 V224A probably damaging Het
Slc7a6 T C 8: 106,179,240 S35P probably benign Het
Snx17 C T 5: 31,197,335 R314C probably damaging Het
Spats2l T C 1: 57,943,072 L371P probably damaging Het
Spsb1 C T 4: 149,907,107 M1I probably null Het
Sv2a G A 3: 96,193,284 V661I probably benign Het
Taar7b T A 10: 24,000,198 V87E probably benign Het
Tcf7l2 G A 19: 55,917,421 V292I probably damaging Het
Teddm1b T A 1: 153,874,594 C50S possibly damaging Het
Urod T C 4: 116,990,384 N336S probably damaging Het
Usp8 A G 2: 126,725,433 probably null Het
Zfp182 A G X: 21,030,657 Y467H probably damaging Het
Other mutations in Trmt10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Trmt10a APN 3 138147416 missense probably damaging 0.97
IGL00563:Trmt10a APN 3 138147416 missense probably damaging 0.97
IGL01140:Trmt10a APN 3 138156698 splice site probably benign
IGL02869:Trmt10a APN 3 138152184 splice site probably null
R0898:Trmt10a UTSW 3 138149518 missense probably damaging 1.00
R0975:Trmt10a UTSW 3 138156809 missense probably benign 0.41
R1511:Trmt10a UTSW 3 138152184 splice site probably null
R1872:Trmt10a UTSW 3 138156720 missense probably damaging 1.00
R4856:Trmt10a UTSW 3 138148385 nonsense probably null
R4880:Trmt10a UTSW 3 138152211 missense possibly damaging 0.64
R4886:Trmt10a UTSW 3 138148385 nonsense probably null
R5399:Trmt10a UTSW 3 138147504 missense probably damaging 0.97
R5516:Trmt10a UTSW 3 138152196 missense possibly damaging 0.91
R5994:Trmt10a UTSW 3 138156714 missense probably damaging 1.00
R7272:Trmt10a UTSW 3 138154766 missense probably damaging 1.00
X0028:Trmt10a UTSW 3 138154795 missense probably damaging 1.00
Posted On2012-12-06