Incidental Mutation 'IGL03220:Trmt1l'
ID 413637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt1l
Ensembl Gene ENSMUSG00000053286
Gene Name tRNA methyltransferase 1 like
Synonyms Trm1-like, 1190005F20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03220
Quality Score
Status
Chromosome 1
Chromosomal Location 151428542-151458161 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 151440941 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065625] [ENSMUST00000189655]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000065625
SMART Domains Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
low complexity region 25 70 N/A INTRINSIC
ZnF_C2H2 116 142 7.49e0 SMART
ZnF_C2H2 181 203 2.49e-1 SMART
Pfam:TRM 220 563 6.9e-60 PFAM
Pfam:TRM 595 684 6.8e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188843
Predicted Effect probably benign
Transcript: ENSMUST00000189655
SMART Domains Protein: ENSMUSP00000140009
Gene: ENSMUSG00000053286

DomainStartEndE-ValueType
ZnF_C2H2 28 50 1.1e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198467
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 has some similarity to N2,N2-dimethylguanosine tRNA methyltransferase from other organisms. Studies of the mouse ortholog have shown that this protein plays a role in motor coordination and exploratory behavior, and it may also be involved in modulating postnatal neuronal functions. Alternatively spliced transcripts have been identified for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and anatomically normal but display significantly impaired motor coordination and aberrant exploratory behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 T A 1: 179,788,202 E368D probably benign Het
AI481877 G A 4: 59,082,378 Q417* probably null Het
Arid2 A T 15: 96,361,772 H271L probably damaging Het
Bsnd G T 4: 106,486,765 Q115K possibly damaging Het
Ceacam5 T A 7: 17,760,728 I887N probably damaging Het
Clrn2 T C 5: 45,463,728 F155L probably damaging Het
Col12a1 A G 9: 79,699,483 S553P probably damaging Het
Crnn C T 3: 93,149,367 H487Y possibly damaging Het
Ddi2 T C 4: 141,708,456 N90S probably benign Het
Deup1 T A 9: 15,592,411 I285L probably benign Het
Dlgap4 T C 2: 156,704,626 S405P probably damaging Het
Dnah11 A G 12: 118,105,985 F1560L probably benign Het
Dock1 T C 7: 135,108,522 probably null Het
Dst C A 1: 34,185,995 Q1161K probably damaging Het
Dus1l G T 11: 120,792,359 H280N probably damaging Het
Gm21985 C A 2: 112,357,484 H964N possibly damaging Het
Gzmd A T 14: 56,130,429 V129E probably damaging Het
Hmcn2 T A 2: 31,346,621 F392Y possibly damaging Het
Kdelr2 T A 5: 143,418,115 Y86* probably null Het
Kif26b T G 1: 178,864,869 C458W probably damaging Het
Lhpp G A 7: 132,650,291 V220I probably benign Het
Nfya T C 17: 48,400,493 N7S possibly damaging Het
Olfr1019 G T 2: 85,840,982 Q270K possibly damaging Het
Olfr1445 C T 19: 12,884,451 T190I possibly damaging Het
Olfr1449 A C 19: 12,935,494 Y252S probably damaging Het
Prkg1 A T 19: 30,569,237 probably benign Het
Prpf6 A G 2: 181,632,879 E383G probably damaging Het
Ptpn21 A T 12: 98,678,623 V1153E probably damaging Het
Ryr1 A T 7: 29,059,855 I3330N probably damaging Het
Sgk1 A G 10: 21,997,391 D252G probably null Het
Shcbp1l T C 1: 153,433,165 probably benign Het
Skida1 T C 2: 18,048,161 D60G probably damaging Het
Slc9a5 T A 8: 105,368,020 C748S probably benign Het
Smc4 A T 3: 69,009,542 Y163F possibly damaging Het
Spdya T C 17: 71,578,291 S247P possibly damaging Het
Sptb T C 12: 76,612,910 D1072G probably benign Het
St7l A T 3: 104,874,823 probably benign Het
Tspan4 A G 7: 141,491,799 Y153C probably damaging Het
Ulk4 A T 9: 121,145,336 N944K probably damaging Het
Unc80 T C 1: 66,504,938 C407R probably damaging Het
Zfp563 T G 17: 33,104,687 S85R probably benign Het
Zp2 A C 7: 120,137,227 L331R possibly damaging Het
Other mutations in Trmt1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Trmt1l APN 1 151442712 critical splice donor site probably null
IGL02175:Trmt1l APN 1 151448484 missense probably benign 0.00
IGL02348:Trmt1l APN 1 151450006 missense probably damaging 1.00
IGL02397:Trmt1l APN 1 151439531 missense probably damaging 1.00
IGL02582:Trmt1l APN 1 151433785 splice site probably benign
IGL03150:Trmt1l APN 1 151453892 missense probably benign 0.00
Canyonlands UTSW 1 151454048 nonsense probably null
splendiforous UTSW 1 151453148 missense probably damaging 1.00
IGL03014:Trmt1l UTSW 1 151457930 missense probably damaging 0.99
R0067:Trmt1l UTSW 1 151448380 missense probably benign 0.16
R0067:Trmt1l UTSW 1 151448380 missense probably benign 0.16
R0240:Trmt1l UTSW 1 151457454 unclassified probably benign
R0267:Trmt1l UTSW 1 151457675 unclassified probably benign
R2084:Trmt1l UTSW 1 151440854 missense probably damaging 1.00
R2206:Trmt1l UTSW 1 151435843 critical splice donor site probably null
R2338:Trmt1l UTSW 1 151428959 intron probably benign
R2408:Trmt1l UTSW 1 151439516 missense possibly damaging 0.48
R2429:Trmt1l UTSW 1 151433830 missense probably damaging 1.00
R2520:Trmt1l UTSW 1 151453945 missense probably benign 0.14
R3972:Trmt1l UTSW 1 151433883 missense possibly damaging 0.91
R4092:Trmt1l UTSW 1 151455033 missense probably benign 0.18
R4361:Trmt1l UTSW 1 151435875 intron probably benign
R4411:Trmt1l UTSW 1 151452154 missense probably benign 0.02
R4419:Trmt1l UTSW 1 151440808 missense probably damaging 0.98
R4518:Trmt1l UTSW 1 151448343 nonsense probably null
R4614:Trmt1l UTSW 1 151454048 nonsense probably null
R4617:Trmt1l UTSW 1 151454048 nonsense probably null
R4618:Trmt1l UTSW 1 151454048 nonsense probably null
R4647:Trmt1l UTSW 1 151457881 missense possibly damaging 0.86
R4653:Trmt1l UTSW 1 151439569 missense probably benign 0.00
R4734:Trmt1l UTSW 1 151442637 missense probably benign 0.32
R4873:Trmt1l UTSW 1 151455004 missense probably benign 0.04
R4875:Trmt1l UTSW 1 151455004 missense probably benign 0.04
R5026:Trmt1l UTSW 1 151440876 missense probably damaging 1.00
R5528:Trmt1l UTSW 1 151454995 missense probably benign
R5587:Trmt1l UTSW 1 151435704 intron probably benign
R5872:Trmt1l UTSW 1 151440843 missense probably damaging 1.00
R6060:Trmt1l UTSW 1 151457580 missense possibly damaging 0.78
R6169:Trmt1l UTSW 1 151428953 intron probably benign
R6333:Trmt1l UTSW 1 151453934 missense probably benign 0.15
R6906:Trmt1l UTSW 1 151452175 missense probably benign 0.03
R7269:Trmt1l UTSW 1 151457788 missense possibly damaging 0.81
R7574:Trmt1l UTSW 1 151440840 missense possibly damaging 0.95
R7740:Trmt1l UTSW 1 151440888 missense possibly damaging 0.47
R7760:Trmt1l UTSW 1 151442674 missense possibly damaging 0.93
R7984:Trmt1l UTSW 1 151435738 missense probably benign 0.02
R8257:Trmt1l UTSW 1 151428878 start codon destroyed probably null
R8286:Trmt1l UTSW 1 151457792 missense probably damaging 1.00
R8439:Trmt1l UTSW 1 151449976 missense probably benign 0.10
R8451:Trmt1l UTSW 1 151448288 missense unknown
R8514:Trmt1l UTSW 1 151453991 missense probably damaging 0.98
R9287:Trmt1l UTSW 1 151453148 missense probably damaging 1.00
R9423:Trmt1l UTSW 1 151450066 missense possibly damaging 0.90
R9622:Trmt1l UTSW 1 151428959 nonsense probably null
X0039:Trmt1l UTSW 1 151454990 missense possibly damaging 0.88
Z1176:Trmt1l UTSW 1 151453113 missense possibly damaging 0.72
Z1187:Trmt1l UTSW 1 151457580 missense possibly damaging 0.78
Z1189:Trmt1l UTSW 1 151457580 missense possibly damaging 0.78
Z1190:Trmt1l UTSW 1 151457580 missense possibly damaging 0.78
Z1192:Trmt1l UTSW 1 151457580 missense possibly damaging 0.78
Posted On 2016-08-02