Incidental Mutation 'R1250:Qtrt1'
ID 151724
Institutional Source Beutler Lab
Gene Symbol Qtrt1
Ensembl Gene ENSMUSG00000002825
Gene Name queuine tRNA-ribosyltransferase catalytic subunit 1
Synonyms tRNA-guanine transglycosylase, Tgt, 2610028E17Rik
MMRRC Submission 039317-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R1250 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 21323133-21331570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21330844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 324 (T324M)
Ref Sequence ENSEMBL: ENSMUSP00000002902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002902] [ENSMUST00000214681] [ENSMUST00000216527]
AlphaFold Q9JMA2
Predicted Effect probably benign
Transcript: ENSMUST00000002902
AA Change: T324M

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000002902
Gene: ENSMUSG00000002825
AA Change: T324M

DomainStartEndE-ValueType
Pfam:TGT 142 376 1.4e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213718
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 probably benign
Transcript: ENSMUST00000216277
Predicted Effect unknown
Transcript: ENSMUST00000217060
AA Change: T34M
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217188
Predicted Effect probably benign
Transcript: ENSMUST00000216527
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aptx T A 4: 40,693,447 (GRCm39) E162D probably benign Het
Cdhr4 A T 9: 107,874,715 (GRCm39) Q20L probably damaging Het
Dlk1 A T 12: 109,425,744 (GRCm39) T206S probably damaging Het
Gabrr2 T C 4: 33,063,273 (GRCm39) L32P probably benign Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Kntc1 T A 5: 123,922,262 (GRCm39) S954T possibly damaging Het
Krt28 A G 11: 99,257,648 (GRCm39) probably null Het
Lingo3 T C 10: 80,670,605 (GRCm39) T442A probably benign Het
Map3k5 G A 10: 19,986,521 (GRCm39) A912T possibly damaging Het
Msantd3 C A 4: 48,552,789 (GRCm39) P126Q probably damaging Het
Nek10 T C 14: 14,853,887 (GRCm38) S358P probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Prss59 A T 6: 40,902,909 (GRCm39) probably null Het
Rag2 A G 2: 101,460,784 (GRCm39) S365G probably damaging Het
Slc6a2 C A 8: 93,719,491 (GRCm39) T402K probably benign Het
Slc9b1 T C 3: 135,054,531 (GRCm39) M1T probably null Het
Ttn A G 2: 76,720,904 (GRCm39) probably benign Het
Vmn1r31 A G 6: 58,449,643 (GRCm39) V74A probably benign Het
Zkscan3 A G 13: 21,572,694 (GRCm39) F313L probably benign Het
Other mutations in Qtrt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:Qtrt1 APN 9 21,330,845 (GRCm39) critical splice donor site probably null
IGL02048:Qtrt1 APN 9 21,328,651 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACCCAGCTATGCCACCGATTTG -3'
(R):5'- GCCCTTATGGCACAGACTCTACAC -3'

Sequencing Primer
(F):5'- ACATGTTCGACTGTGTGTACC -3'
(R):5'- GGAGCCATGCTGCAAAC -3'
Posted On 2014-01-29