Incidental Mutation 'IGL02217:Qtrt1'
ID284967
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: 0.361) question?
Stock #IGL02217
Quality Score
Status
Chromosome9
Chromosomal Location21411837-21420274 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 21417389 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000002902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002902] [ENSMUST00000214681] [ENSMUST00000216527]
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: 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 probably benign
Transcript: ENSMUST00000216277
Predicted Effect probably benign
Transcript: ENSMUST00000216527
Predicted Effect probably benign
Transcript: ENSMUST00000217060
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,470,898 probably benign Het
Actn1 G A 12: 80,174,094 Q647* probably null Het
Adamts6 T A 13: 104,462,365 probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cabin1 G A 10: 75,700,047 T1389I possibly damaging Het
Cenpc1 A G 5: 86,029,200 probably benign Het
Clca4a T A 3: 144,961,996 T405S possibly damaging Het
Cntln G A 4: 85,100,258 V1168M probably damaging Het
Col18a1 A G 10: 77,053,298 S1494P probably damaging Het
Cps1 A T 1: 67,174,382 T758S probably benign Het
Cul3 A T 1: 80,283,767 M247K probably damaging Het
Cyp3a57 A G 5: 145,369,143 probably null Het
Dennd4c T A 4: 86,813,799 C917S probably benign Het
Dhrs11 A T 11: 84,822,395 Y166* probably null Het
Dtl A G 1: 191,568,314 V146A probably damaging Het
Exosc9 A G 3: 36,552,744 E20G probably damaging Het
Fer A G 17: 64,138,965 K437R probably benign Het
Fkbp6 A T 5: 135,337,630 V284E probably benign Het
Foxq1 A T 13: 31,559,169 S85C probably damaging Het
Galnt12 T A 4: 47,113,832 S83R probably damaging Het
Gm5244 A T 19: 12,846,863 noncoding transcript Het
Gm765 T A 6: 98,248,072 E83D possibly damaging Het
Gm884 T C 11: 103,612,871 probably benign Het
Gpr156 A G 16: 38,005,311 D630G probably benign Het
Hace1 A T 10: 45,590,375 probably null Het
Hemgn G T 4: 46,396,420 T272K probably damaging Het
Ifi213 T G 1: 173,595,032 E89A possibly damaging Het
Jarid2 A G 13: 44,913,201 E954G probably damaging Het
Kcnu1 A G 8: 25,858,184 D126G probably damaging Het
Lbh A T 17: 72,921,252 I31F possibly damaging Het
Muc6 T C 7: 141,649,624 E490G probably damaging Het
Ncoa3 T C 2: 166,055,346 S686P probably damaging Het
Nme4 A G 17: 26,093,860 M108T probably damaging Het
Nod1 A C 6: 54,943,419 V638G possibly damaging Het
Nrip2 A G 6: 128,406,539 N70S probably damaging Het
Olfr1111 A G 2: 87,149,887 M258T probably benign Het
Olfr1344 T A 7: 6,440,245 I115N probably damaging Het
Pitrm1 G A 13: 6,567,341 probably benign Het
Proser1 A G 3: 53,471,491 K115E probably damaging Het
Ptov1 C T 7: 44,867,476 G70R probably damaging Het
Rbbp8nl A G 2: 180,278,188 probably benign Het
Rtn3 G A 19: 7,435,084 T794I probably damaging Het
Setd4 A G 16: 93,593,295 L82P probably damaging Het
Shank2 C T 7: 144,285,047 L27F possibly damaging Het
Srpk2 A C 5: 23,545,570 V45G probably damaging Het
Utrn A G 10: 12,751,559 F57S probably damaging Het
Vcan T G 13: 89,703,077 T1255P probably damaging Het
Vmn2r16 A C 5: 109,339,810 H183P probably damaging Het
Wdr48 T C 9: 119,909,535 I286T 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
IGL02299:Qtrt1 APN 9 21411949 missense probably benign 0.06
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
Posted On2015-04-16