Incidental Mutation 'IGL00730:Qtrt1'
ID 13715
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: 0.453) question?
Stock # IGL00730
Quality Score
Status
Chromosome 9
Chromosomal Location 21323133-21331570 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 21330845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000002902] [ENSMUST00000214681] [ENSMUST00000216527]
AlphaFold Q9JMA2
Predicted Effect probably null
Transcript: ENSMUST00000002902
SMART Domains Protein: ENSMUSP00000002902
Gene: ENSMUSG00000002825

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 probably null
Transcript: ENSMUST00000217060
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 A T 18: 80,171,247 (GRCm39) I1054N probably benign Het
Carf C T 1: 60,186,577 (GRCm39) Q511* probably null Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Dnaaf5 G T 5: 139,137,423 (GRCm39) probably null Het
Gen1 T C 12: 11,311,068 (GRCm39) N55D probably damaging Het
Gsdmc4 T A 15: 63,769,653 (GRCm39) R190W probably damaging Het
Hsd3b5 A T 3: 98,537,373 (GRCm39) S48T probably benign Het
Lactb2 T G 1: 13,717,740 (GRCm39) probably benign Het
Pdzk1 A G 3: 96,775,742 (GRCm39) D370G probably benign Het
Taf7l2 A C 10: 115,948,931 (GRCm39) D198E probably benign Het
Tmem63c T A 12: 87,123,980 (GRCm39) L486Q probably benign Het
Top2b A G 14: 16,389,831 (GRCm38) Y223C probably damaging Het
Trpm2 T C 10: 77,778,749 (GRCm39) probably null Het
Other mutations in Qtrt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-12-06