Incidental Mutation 'R6762:Qtrt1'
ID 531745
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 044878-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R6762 (G1)
Quality Score 200.009
Status Validated
Chromosome 9
Chromosomal Location 21323133-21331570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21323378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 76 (H76Q)
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: H76Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002902
Gene: ENSMUSG00000002825
AA Change: H76Q

DomainStartEndE-ValueType
Pfam:TGT 142 376 1.4e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213718
Predicted Effect probably benign
Transcript: ENSMUST00000214681
Predicted Effect probably benign
Transcript: ENSMUST00000216277
Predicted Effect unknown
Transcript: ENSMUST00000216527
AA Change: S33T
Meta Mutation Damage Score 0.9447 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 103,976,867 (GRCm39) Y27H probably benign Het
Angptl3 T A 4: 98,925,654 (GRCm39) S327T possibly damaging Het
Arl6ip4 GGAAGAAGAAGAAGAAGAA GGAAGAAGAAGAAGAAGAAGAA 5: 124,255,113 (GRCm39) probably benign Het
Cyp2s1 A T 7: 25,507,495 (GRCm39) L318H probably damaging Het
Dnah14 T C 1: 181,584,824 (GRCm39) L3185P probably damaging Het
Dnah7b T C 1: 46,263,902 (GRCm39) V2128A probably benign Het
Ehhadh A T 16: 21,581,209 (GRCm39) F594L probably benign Het
En2 A G 5: 28,375,351 (GRCm39) N298S possibly damaging Het
Epha5 T A 5: 84,479,585 (GRCm39) N140Y probably damaging Het
Fam151b C T 13: 92,604,558 (GRCm39) V144I possibly damaging Het
Fanca C A 8: 123,998,042 (GRCm39) A1215S probably benign Het
Fancd2 T A 6: 113,562,977 (GRCm39) probably null Het
Fat2 T C 11: 55,144,308 (GRCm39) probably null Het
Gm4513 T C 7: 20,328,118 (GRCm39) N31S probably benign Het
Hspg2 A T 4: 137,279,114 (GRCm39) I3066F possibly damaging Het
Krt10 T C 11: 99,277,883 (GRCm39) T355A possibly damaging Het
Lims1 C A 10: 58,248,367 (GRCm39) H275N probably damaging Het
Map3k19 C T 1: 127,775,001 (GRCm39) G112D probably damaging Het
Mdn1 T A 4: 32,676,786 (GRCm39) N619K possibly damaging Het
Mtor A G 4: 148,622,938 (GRCm39) T1977A possibly damaging Het
Nos2 T G 11: 78,850,574 (GRCm39) L1144R possibly damaging Het
Or52ae7 G C 7: 103,119,596 (GRCm39) V117L probably benign Het
Or6c68 G A 10: 129,158,125 (GRCm39) C211Y probably damaging Het
Or8k38 A T 2: 86,488,188 (GRCm39) F205I probably benign Het
Pals2 T A 6: 50,157,418 (GRCm39) probably null Het
Pcdhga9 C A 18: 37,870,321 (GRCm39) S50Y probably damaging Het
Pfn4 T A 12: 4,825,487 (GRCm39) M108K probably damaging Het
Prep T C 10: 45,024,219 (GRCm39) probably null Het
Rpa1 T A 11: 75,231,171 (GRCm39) S73C possibly damaging Het
Senp5 A G 16: 31,808,702 (GRCm39) V157A probably damaging Het
Snapc3 T C 4: 83,353,495 (GRCm39) L178P probably damaging Het
Sptbn4 A G 7: 27,093,633 (GRCm39) F1340L probably damaging Het
Srd5a3 T A 5: 76,301,398 (GRCm39) I85K probably benign Het
Taar2 C T 10: 23,817,300 (GRCm39) T280M probably damaging Het
Tgfb3 T C 12: 86,116,237 (GRCm39) D177G probably benign Het
Tpt1 A G 14: 76,083,821 (GRCm39) D94G probably benign Het
Trpm4 A G 7: 44,954,240 (GRCm39) probably benign Het
Trpv4 C T 5: 114,763,171 (GRCm39) R746H probably benign Het
Txndc2 T C 17: 65,945,967 (GRCm39) D70G probably damaging Het
Ugcg T A 4: 59,219,530 (GRCm39) I289N possibly damaging Het
Vmn2r2 C G 3: 64,041,870 (GRCm39) D282H probably damaging Het
Vmn2r50 A T 7: 9,787,010 (GRCm39) N32K probably benign Het
Wdpcp C T 11: 21,671,244 (GRCm39) T495I probably benign Het
Zfp961 T A 8: 72,719,958 (GRCm39) C51S possibly damaging Het
Zxdc C T 6: 90,359,165 (GRCm39) A599V 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
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
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'- ACGAATAATGCGGCTGGTCG -3'
(R):5'- CAGATTGTGGGGCCAATTCATG -3'

Sequencing Primer
(F):5'- CTGGTCGCTGAGTGCAGTC -3'
(R):5'- TTCATGAAGCCGTGAAGACCCTG -3'
Posted On 2018-08-29