Incidental Mutation 'IGL02048:Qtrt1'
ID 185000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Qtrt1
Ensembl Gene ENSMUSG00000002825
Gene Name queuine tRNA-ribosyltransferase catalytic subunit 1
Synonyms tRNA-guanine transglycosylase, Tgt, 2610028E17Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.433) question?
Stock # IGL02048
Quality Score
Status
Chromosome 9
Chromosomal Location 21323133-21331570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21328651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 205 (L205P)
Ref Sequence ENSEMBL: ENSMUSP00000002902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002902] [ENSMUST00000214681] [ENSMUST00000216527]
AlphaFold Q9JMA2
Predicted Effect probably damaging
Transcript: ENSMUST00000002902
AA Change: L205P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002902
Gene: ENSMUSG00000002825
AA Change: L205P

DomainStartEndE-ValueType
Pfam:TGT 142 376 1.4e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214128
Predicted Effect probably benign
Transcript: ENSMUST00000214681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217188
Predicted Effect probably benign
Transcript: ENSMUST00000216277
Predicted Effect probably benign
Transcript: ENSMUST00000217060
Predicted Effect probably benign
Transcript: ENSMUST00000216527
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,069,831 (GRCm39) D1288N probably damaging Het
Abcc1 T C 16: 14,229,383 (GRCm39) F372L probably damaging Het
Adcy2 G T 13: 69,036,186 (GRCm39) N158K possibly damaging Het
Apba1 A G 19: 23,915,000 (GRCm39) probably null Het
Arap3 T C 18: 38,130,032 (GRCm39) E43G possibly damaging Het
Bet1 A T 6: 4,082,456 (GRCm39) probably null Het
Blm A G 7: 80,152,709 (GRCm39) probably benign Het
Brinp1 T C 4: 68,681,379 (GRCm39) I384V probably benign Het
Cyp3a13 T C 5: 137,917,257 (GRCm39) probably benign Het
Dlg5 A T 14: 24,222,271 (GRCm39) I480N possibly damaging Het
Exoc3l4 A G 12: 111,394,917 (GRCm39) K538R probably benign Het
Flna G T X: 73,272,106 (GRCm39) T2008K probably benign Het
Hc T A 2: 34,886,039 (GRCm39) Q1388L probably benign Het
Ifitm1 T C 7: 140,548,205 (GRCm39) S13P probably benign Het
Il1rapl2 A G X: 137,690,398 (GRCm39) I288V probably benign Het
Il31 C T 5: 123,618,553 (GRCm39) V157M possibly damaging Het
N4bp2l1 A G 5: 150,500,103 (GRCm39) probably null Het
Nell1 T C 7: 49,869,355 (GRCm39) I210T probably damaging Het
Or52b3 T C 7: 102,204,090 (GRCm39) Y200H probably damaging Het
Or7e176 T A 9: 20,171,784 (GRCm39) I216N possibly damaging Het
Phf1 A G 17: 27,153,515 (GRCm39) probably benign Het
Phf10 G A 17: 15,165,411 (GRCm39) P482S probably benign Het
Ppp6r3 T G 19: 3,523,848 (GRCm39) M522L possibly damaging Het
Vmn2r11 T C 5: 109,202,658 (GRCm39) I140V probably benign Het
Xylt2 C T 11: 94,557,171 (GRCm39) E107K possibly damaging Het
Zfp512b A T 2: 181,231,715 (GRCm39) F155Y possibly damaging Het
Zfyve27 A G 19: 42,174,296 (GRCm39) D314G probably damaging Het
Other mutations in Qtrt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:Qtrt1 APN 9 21,330,845 (GRCm39) critical splice donor site probably null
IGL02217:Qtrt1 APN 9 21,328,685 (GRCm39) critical splice donor site probably null
IGL02299:Qtrt1 APN 9 21,323,245 (GRCm39) missense probably benign 0.06
R0496:Qtrt1 UTSW 9 21,330,844 (GRCm39) missense probably benign 0.09
R0625:Qtrt1 UTSW 9 21,329,584 (GRCm39) missense probably benign 0.43
R1173:Qtrt1 UTSW 9 21,323,782 (GRCm39) missense probably benign 0.05
R1174:Qtrt1 UTSW 9 21,323,782 (GRCm39) missense probably benign 0.05
R1250:Qtrt1 UTSW 9 21,330,844 (GRCm39) missense probably benign 0.09
R1563:Qtrt1 UTSW 9 21,330,607 (GRCm39) missense probably benign 0.44
R3791:Qtrt1 UTSW 9 21,330,636 (GRCm39) missense probably damaging 1.00
R4997:Qtrt1 UTSW 9 21,328,654 (GRCm39) missense probably benign 0.00
R6057:Qtrt1 UTSW 9 21,323,299 (GRCm39) missense probably damaging 1.00
R6762:Qtrt1 UTSW 9 21,323,378 (GRCm39) missense probably damaging 1.00
R7422:Qtrt1 UTSW 9 21,323,753 (GRCm39) missense probably benign 0.00
R7881:Qtrt1 UTSW 9 21,330,637 (GRCm39) missense probably damaging 1.00
R8077:Qtrt1 UTSW 9 21,331,392 (GRCm39) nonsense probably null
Posted On 2014-05-07