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 1190005F20Rik, Trm1-like
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03220
Quality Score
Status
Chromosome 1
Chromosomal Location 151304293-151333912 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 151316692 bp (GRCm39)
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: ENSMUST00000198467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192826
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: 179,615,767 (GRCm39) E368D probably benign Het
Arid2 A T 15: 96,259,653 (GRCm39) H271L probably damaging Het
Bsnd G T 4: 106,343,962 (GRCm39) Q115K possibly damaging Het
Ceacam5 T A 7: 17,494,653 (GRCm39) I887N probably damaging Het
Clrn2 T C 5: 45,621,070 (GRCm39) F155L probably damaging Het
Col12a1 A G 9: 79,606,765 (GRCm39) S553P probably damaging Het
Crnn C T 3: 93,056,674 (GRCm39) H487Y possibly damaging Het
Ddi2 T C 4: 141,435,767 (GRCm39) N90S probably benign Het
Deup1 T A 9: 15,503,707 (GRCm39) I285L probably benign Het
Dlgap4 T C 2: 156,546,546 (GRCm39) S405P probably damaging Het
Dnah11 A G 12: 118,069,720 (GRCm39) F1560L probably benign Het
Dock1 T C 7: 134,710,251 (GRCm39) probably null Het
Dst C A 1: 34,225,076 (GRCm39) Q1161K probably damaging Het
Dus1l G T 11: 120,683,185 (GRCm39) H280N probably damaging Het
Gm21985 C A 2: 112,187,829 (GRCm39) H964N possibly damaging Het
Gzmd A T 14: 56,367,886 (GRCm39) V129E probably damaging Het
Hmcn2 T A 2: 31,236,633 (GRCm39) F392Y possibly damaging Het
Kdelr2 T A 5: 143,403,870 (GRCm39) Y86* probably null Het
Kif26b T G 1: 178,692,434 (GRCm39) C458W probably damaging Het
Lhpp G A 7: 132,252,020 (GRCm39) V220I probably benign Het
Nfya T C 17: 48,707,521 (GRCm39) N7S possibly damaging Het
Or5ar1 G T 2: 85,671,326 (GRCm39) Q270K possibly damaging Het
Or5b12b C T 19: 12,861,815 (GRCm39) T190I possibly damaging Het
Or5b24 A C 19: 12,912,858 (GRCm39) Y252S probably damaging Het
Prkg1 A T 19: 30,546,637 (GRCm39) probably benign Het
Prpf6 A G 2: 181,274,672 (GRCm39) E383G probably damaging Het
Ptpn21 A T 12: 98,644,882 (GRCm39) V1153E probably damaging Het
Ryr1 A T 7: 28,759,280 (GRCm39) I3330N probably damaging Het
Sgk1 A G 10: 21,873,290 (GRCm39) D252G probably null Het
Shcbp1l T C 1: 153,308,911 (GRCm39) probably benign Het
Shoc1 G A 4: 59,082,378 (GRCm39) Q417* probably null Het
Skida1 T C 2: 18,052,972 (GRCm39) D60G probably damaging Het
Slc9a5 T A 8: 106,094,652 (GRCm39) C748S probably benign Het
Smc4 A T 3: 68,916,875 (GRCm39) Y163F possibly damaging Het
Spdya T C 17: 71,885,286 (GRCm39) S247P possibly damaging Het
Sptb T C 12: 76,659,684 (GRCm39) D1072G probably benign Het
St7l A T 3: 104,782,139 (GRCm39) probably benign Het
Tspan4 A G 7: 141,071,712 (GRCm39) Y153C probably damaging Het
Ulk4 A T 9: 120,974,402 (GRCm39) N944K probably damaging Het
Unc80 T C 1: 66,544,097 (GRCm39) C407R probably damaging Het
Zfp563 T G 17: 33,323,661 (GRCm39) S85R probably benign Het
Zp2 A C 7: 119,736,450 (GRCm39) L331R possibly damaging Het
Other mutations in Trmt1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Trmt1l APN 1 151,318,463 (GRCm39) critical splice donor site probably null
IGL02175:Trmt1l APN 1 151,324,235 (GRCm39) missense probably benign 0.00
IGL02348:Trmt1l APN 1 151,325,757 (GRCm39) missense probably damaging 1.00
IGL02397:Trmt1l APN 1 151,315,282 (GRCm39) missense probably damaging 1.00
IGL02582:Trmt1l APN 1 151,309,536 (GRCm39) splice site probably benign
IGL03150:Trmt1l APN 1 151,329,643 (GRCm39) missense probably benign 0.00
Canyonlands UTSW 1 151,329,799 (GRCm39) nonsense probably null
splendiforous UTSW 1 151,328,899 (GRCm39) missense probably damaging 1.00
IGL03014:Trmt1l UTSW 1 151,333,681 (GRCm39) missense probably damaging 0.99
R0067:Trmt1l UTSW 1 151,324,131 (GRCm39) missense probably benign 0.16
R0067:Trmt1l UTSW 1 151,324,131 (GRCm39) missense probably benign 0.16
R0240:Trmt1l UTSW 1 151,333,205 (GRCm39) unclassified probably benign
R0267:Trmt1l UTSW 1 151,333,426 (GRCm39) unclassified probably benign
R2084:Trmt1l UTSW 1 151,316,605 (GRCm39) missense probably damaging 1.00
R2206:Trmt1l UTSW 1 151,311,594 (GRCm39) critical splice donor site probably null
R2338:Trmt1l UTSW 1 151,304,710 (GRCm39) intron probably benign
R2408:Trmt1l UTSW 1 151,315,267 (GRCm39) missense possibly damaging 0.48
R2429:Trmt1l UTSW 1 151,309,581 (GRCm39) missense probably damaging 1.00
R2520:Trmt1l UTSW 1 151,329,696 (GRCm39) missense probably benign 0.14
R3972:Trmt1l UTSW 1 151,309,634 (GRCm39) missense possibly damaging 0.91
R4092:Trmt1l UTSW 1 151,330,784 (GRCm39) missense probably benign 0.18
R4361:Trmt1l UTSW 1 151,311,626 (GRCm39) intron probably benign
R4411:Trmt1l UTSW 1 151,327,905 (GRCm39) missense probably benign 0.02
R4419:Trmt1l UTSW 1 151,316,559 (GRCm39) missense probably damaging 0.98
R4518:Trmt1l UTSW 1 151,324,094 (GRCm39) nonsense probably null
R4614:Trmt1l UTSW 1 151,329,799 (GRCm39) nonsense probably null
R4617:Trmt1l UTSW 1 151,329,799 (GRCm39) nonsense probably null
R4618:Trmt1l UTSW 1 151,329,799 (GRCm39) nonsense probably null
R4647:Trmt1l UTSW 1 151,333,632 (GRCm39) missense possibly damaging 0.86
R4653:Trmt1l UTSW 1 151,315,320 (GRCm39) missense probably benign 0.00
R4734:Trmt1l UTSW 1 151,318,388 (GRCm39) missense probably benign 0.32
R4873:Trmt1l UTSW 1 151,330,755 (GRCm39) missense probably benign 0.04
R4875:Trmt1l UTSW 1 151,330,755 (GRCm39) missense probably benign 0.04
R5026:Trmt1l UTSW 1 151,316,627 (GRCm39) missense probably damaging 1.00
R5528:Trmt1l UTSW 1 151,330,746 (GRCm39) missense probably benign
R5587:Trmt1l UTSW 1 151,311,455 (GRCm39) intron probably benign
R5872:Trmt1l UTSW 1 151,316,594 (GRCm39) missense probably damaging 1.00
R6060:Trmt1l UTSW 1 151,333,331 (GRCm39) missense possibly damaging 0.78
R6169:Trmt1l UTSW 1 151,304,704 (GRCm39) intron probably benign
R6333:Trmt1l UTSW 1 151,329,685 (GRCm39) missense probably benign 0.15
R6906:Trmt1l UTSW 1 151,327,926 (GRCm39) missense probably benign 0.03
R7269:Trmt1l UTSW 1 151,333,539 (GRCm39) missense possibly damaging 0.81
R7574:Trmt1l UTSW 1 151,316,591 (GRCm39) missense possibly damaging 0.95
R7740:Trmt1l UTSW 1 151,316,639 (GRCm39) missense possibly damaging 0.47
R7760:Trmt1l UTSW 1 151,318,425 (GRCm39) missense possibly damaging 0.93
R7984:Trmt1l UTSW 1 151,311,489 (GRCm39) missense probably benign 0.02
R8257:Trmt1l UTSW 1 151,304,629 (GRCm39) start codon destroyed probably null
R8286:Trmt1l UTSW 1 151,333,543 (GRCm39) missense probably damaging 1.00
R8439:Trmt1l UTSW 1 151,325,727 (GRCm39) missense probably benign 0.10
R8451:Trmt1l UTSW 1 151,324,039 (GRCm39) missense unknown
R8514:Trmt1l UTSW 1 151,329,742 (GRCm39) missense probably damaging 0.98
R9287:Trmt1l UTSW 1 151,328,899 (GRCm39) missense probably damaging 1.00
R9423:Trmt1l UTSW 1 151,325,817 (GRCm39) missense possibly damaging 0.90
R9622:Trmt1l UTSW 1 151,304,710 (GRCm39) nonsense probably null
X0039:Trmt1l UTSW 1 151,330,741 (GRCm39) missense possibly damaging 0.88
Z1176:Trmt1l UTSW 1 151,328,864 (GRCm39) missense possibly damaging 0.72
Z1187:Trmt1l UTSW 1 151,333,331 (GRCm39) missense possibly damaging 0.78
Z1189:Trmt1l UTSW 1 151,333,331 (GRCm39) missense possibly damaging 0.78
Z1190:Trmt1l UTSW 1 151,333,331 (GRCm39) missense possibly damaging 0.78
Z1192:Trmt1l UTSW 1 151,333,331 (GRCm39) missense possibly damaging 0.78
Posted On 2016-08-02