Incidental Mutation 'IGL02299:Qtrt1'
ID290247
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Qtrt1
Ensembl Gene ENSMUSG00000002825
Gene Namequeuine tRNA-ribosyltransferase catalytic subunit 1
SynonymsTgt, tRNA-guanine transglycosylase, 2610028E17Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.439) question?
Stock #IGL02299
Quality Score
Status
Chromosome9
Chromosomal Location21411837-21420274 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21411949 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 32 (E32G)
Ref Sequence ENSEMBL: ENSMUSP00000002902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002902] [ENSMUST00000214681] [ENSMUST00000216527]
Predicted Effect probably benign
Transcript: ENSMUST00000002902
AA Change: E32G

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000002902
Gene: ENSMUSG00000002825
AA Change: E32G

DomainStartEndE-ValueType
Pfam:TGT 142 376 1.4e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181812
Predicted Effect probably benign
Transcript: ENSMUST00000213718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214128
Predicted Effect probably benign
Transcript: ENSMUST00000214681
Predicted Effect probably benign
Transcript: ENSMUST00000216277
Predicted Effect probably benign
Transcript: ENSMUST00000216527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217188
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 the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice heterozygous or homozygous for a gene trap allele exhibit reduced phenylalanine conversion to tyrosine and reduced cell levels of queuosine-modified tRNA. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot3 C T 12: 84,058,811 Q351* probably null Het
Ano1 T A 7: 144,590,075 H993L possibly damaging Het
Atp2c1 A T 9: 105,461,087 probably benign Het
Cd81 T C 7: 143,065,278 I13T probably damaging Het
Clasp2 T A 9: 113,879,989 D633E probably damaging Het
Ctif T C 18: 75,637,245 E23G probably damaging Het
Dnah3 G T 7: 119,967,579 L2475I probably benign Het
Fscn2 A G 11: 120,362,199 D164G probably benign Het
Igfn1 A G 1: 135,954,017 probably benign Het
Mast4 A T 13: 102,737,974 S1629T probably benign Het
Mpp4 C A 1: 59,158,579 probably benign Het
Nmi T A 2: 51,958,964 N38I probably damaging Het
Nod2 T A 8: 88,663,742 L226M possibly damaging Het
Notch4 T C 17: 34,578,004 S909P probably damaging Het
Oas1a A T 5: 120,905,692 W126R probably benign Het
Pcdhb5 T C 18: 37,320,890 F108L probably benign Het
Plxna4 G A 6: 32,165,156 P1589S probably benign Het
S100a3 A G 3: 90,602,255 E69G possibly damaging Het
Slc1a6 C A 10: 78,793,303 P185T probably damaging Het
Slc8a3 T A 12: 81,315,224 I274F probably damaging Het
Smc6 A G 12: 11,290,751 N468S probably benign Het
Tep1 A G 14: 50,840,671 L1567P probably damaging Het
Ugt2b37 G A 5: 87,242,315 S424L probably benign Het
Urgcp A G 11: 5,717,573 L255P probably damaging Het
Vmn2r44 T A 7: 8,377,816 K359N probably benign Het
Xpo1 T A 11: 23,293,915 probably benign Het
Other mutations in Qtrt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:Qtrt1 APN 9 21419549 critical splice donor site probably null
IGL02048:Qtrt1 APN 9 21417355 missense probably damaging 1.00
IGL02217:Qtrt1 APN 9 21417389 critical splice donor site probably null
R0496:Qtrt1 UTSW 9 21419548 missense probably benign 0.09
R0625:Qtrt1 UTSW 9 21418288 missense probably benign 0.43
R1173:Qtrt1 UTSW 9 21412486 missense probably benign 0.05
R1174:Qtrt1 UTSW 9 21412486 missense probably benign 0.05
R1250:Qtrt1 UTSW 9 21419548 missense probably benign 0.09
R1563:Qtrt1 UTSW 9 21419311 missense probably benign 0.44
R3791:Qtrt1 UTSW 9 21419340 missense probably damaging 1.00
R4997:Qtrt1 UTSW 9 21417358 missense probably benign 0.00
R6057:Qtrt1 UTSW 9 21412003 missense probably damaging 1.00
R6762:Qtrt1 UTSW 9 21412082 missense probably damaging 1.00
R7422:Qtrt1 UTSW 9 21412457 missense probably benign 0.00
R7881:Qtrt1 UTSW 9 21419341 missense probably damaging 1.00
R8077:Qtrt1 UTSW 9 21420096 nonsense probably null
Posted On2015-04-16