Incidental Mutation 'R8077:Qtrt1'
ID 629089
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 067511-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R8077 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 21323133-21331570 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 21331392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 374 (R374*)
Ref Sequence ENSEMBL: ENSMUSP00000002902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002902] [ENSMUST00000072362] [ENSMUST00000091087] [ENSMUST00000115404] [ENSMUST00000165766] [ENSMUST00000172482] [ENSMUST00000173397] [ENSMUST00000174828] [ENSMUST00000214681] [ENSMUST00000216527]
AlphaFold Q9JMA2
Predicted Effect probably null
Transcript: ENSMUST00000002902
AA Change: R374*
SMART Domains Protein: ENSMUSP00000002902
Gene: ENSMUSG00000002825
AA Change: R374*

DomainStartEndE-ValueType
Pfam:TGT 142 376 1.4e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072362
SMART Domains Protein: ENSMUSP00000072199
Gene: ENSMUSG00000033335

DomainStartEndE-ValueType
DYNc 6 245 1.01e-193 SMART
low complexity region 298 313 N/A INTRINSIC
PH 520 627 8e-13 SMART
GED 648 739 2.57e-28 SMART
low complexity region 740 752 N/A INTRINSIC
low complexity region 777 799 N/A INTRINSIC
low complexity region 831 864 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091087
SMART Domains Protein: ENSMUSP00000088616
Gene: ENSMUSG00000033335

DomainStartEndE-ValueType
DYNc 6 245 1.01e-193 SMART
low complexity region 298 313 N/A INTRINSIC
PH 516 623 8e-13 SMART
GED 644 735 2.57e-28 SMART
low complexity region 736 748 N/A INTRINSIC
low complexity region 773 795 N/A INTRINSIC
low complexity region 827 860 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115404
SMART Domains Protein: ENSMUSP00000111063
Gene: ENSMUSG00000033335

DomainStartEndE-ValueType
DYNc 6 245 1.01e-193 SMART
low complexity region 298 313 N/A INTRINSIC
PH 520 627 8e-13 SMART
GED 648 739 2.57e-28 SMART
low complexity region 740 752 N/A INTRINSIC
low complexity region 777 799 N/A INTRINSIC
low complexity region 831 864 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165766
SMART Domains Protein: ENSMUSP00000128961
Gene: ENSMUSG00000033335

DomainStartEndE-ValueType
DYNc 6 245 1.01e-193 SMART
low complexity region 298 313 N/A INTRINSIC
PH 520 627 8e-13 SMART
GED 648 739 2.57e-28 SMART
low complexity region 740 752 N/A INTRINSIC
low complexity region 777 799 N/A INTRINSIC
low complexity region 831 858 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172482
SMART Domains Protein: ENSMUSP00000133564
Gene: ENSMUSG00000033335

DomainStartEndE-ValueType
DYNc 6 245 1.01e-193 SMART
low complexity region 298 313 N/A INTRINSIC
PH 520 627 8e-13 SMART
GED 648 739 2.57e-28 SMART
low complexity region 740 752 N/A INTRINSIC
low complexity region 777 799 N/A INTRINSIC
low complexity region 831 864 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173397
SMART Domains Protein: ENSMUSP00000134243
Gene: ENSMUSG00000033335

DomainStartEndE-ValueType
DYNc 6 245 1.01e-193 SMART
low complexity region 298 313 N/A INTRINSIC
PH 520 627 8e-13 SMART
GED 648 739 2.57e-28 SMART
low complexity region 740 752 N/A INTRINSIC
low complexity region 777 799 N/A INTRINSIC
low complexity region 831 863 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174828
SMART Domains Protein: ENSMUSP00000133961
Gene: ENSMUSG00000033335

DomainStartEndE-ValueType
Pfam:Dynamin_N 34 57 9.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213718
Predicted Effect probably benign
Transcript: ENSMUST00000214681
Predicted Effect probably benign
Transcript: ENSMUST00000216277
Predicted Effect probably benign
Transcript: ENSMUST00000216527
Predicted Effect probably null
Transcript: ENSMUST00000217060
AA Change: R82*
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.4%
Validation Efficiency 100% (60/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,467,237 (GRCm39) V132E probably benign Het
4930563M21Rik C T 9: 55,895,250 (GRCm39) V315M probably damaging Het
Aadacl4fm1 T C 4: 144,255,126 (GRCm39) I182T probably benign Het
Alb G C 5: 90,615,214 (GRCm39) R242P probably damaging Het
Amotl1 A T 9: 14,461,798 (GRCm39) V805D probably damaging Het
Arhgef3 T C 14: 27,107,881 (GRCm39) L179P probably damaging Het
Atp8b3 G A 10: 80,366,858 (GRCm39) L247F possibly damaging Het
Ccdc191 T C 16: 43,735,968 (GRCm39) probably null Het
Celsr3 A G 9: 108,705,530 (GRCm39) H671R probably benign Het
Cemip C A 7: 83,652,616 (GRCm39) probably benign Het
Cfap97 G T 8: 46,623,482 (GRCm39) V291F possibly damaging Het
Clca3a2 A G 3: 144,777,288 (GRCm39) V861A possibly damaging Het
Cln8 A T 8: 14,944,950 (GRCm39) D88V probably damaging Het
Col18a1 C A 10: 76,916,685 (GRCm39) G330V unknown Het
Dis3 C T 14: 99,327,471 (GRCm39) R344Q probably benign Het
Esyt2 T A 12: 116,305,848 (GRCm39) S359R possibly damaging Het
Fbxo41 A T 6: 85,450,211 (GRCm39) L844Q probably damaging Het
Fn1 G A 1: 71,651,761 (GRCm39) T1372M probably damaging Het
Gbp5 G A 3: 142,213,500 (GRCm39) R472H probably benign Het
Gm4559 C T 7: 141,827,553 (GRCm39) R183K unknown Het
Gm9507 T A 10: 77,647,604 (GRCm39) E25V unknown Het
Golgb1 A G 16: 36,738,995 (GRCm39) I2486V probably damaging Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Ift80 A G 3: 68,823,478 (GRCm39) Y595H probably benign Het
Itga8 C T 2: 12,247,244 (GRCm39) V326I probably benign Het
Kif14 A T 1: 136,399,186 (GRCm39) H449L possibly damaging Het
Klrh1 A G 6: 129,743,658 (GRCm39) Y209H probably benign Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lrrc8b C A 5: 105,627,883 (GRCm39) S76R possibly damaging Het
Lrrn1 T C 6: 107,545,783 (GRCm39) L527P probably damaging Het
Luc7l T C 17: 26,474,047 (GRCm39) V35A probably damaging Het
Luzp1 T G 4: 136,270,402 (GRCm39) V875G probably damaging Het
Mcf2l G T 8: 13,048,494 (GRCm39) probably null Het
Mcoln2 T C 3: 145,896,169 (GRCm39) M497T probably damaging Het
Mrgprb4 A T 7: 47,848,203 (GRCm39) S242T probably benign Het
Muc21 TCAGTGGTGGTCAGGATGGGGGTAGAGCCTGAGCCACTCCTGGATGCAGTGGTGGTCAGG TCAGTGGTGGTCAGG 17: 35,930,628 (GRCm39) probably benign Het
Nipbl T A 15: 8,340,734 (GRCm39) R1995S possibly damaging Het
Nup35 A G 2: 80,469,280 (GRCm39) probably null Het
Or13a17 C T 7: 140,271,046 (GRCm39) S76F probably benign Het
Or2o1 A G 11: 49,051,312 (GRCm39) D157G probably damaging Het
Or6k2 A G 1: 173,979,411 (GRCm39) probably benign Het
Prdm12 A G 2: 31,532,316 (GRCm39) K109E probably damaging Het
Ptch1 A T 13: 63,688,626 (GRCm39) L444Q probably damaging Het
Rnase11 T C 14: 51,287,398 (GRCm39) D52G probably damaging Het
Rps6 A G 4: 86,774,158 (GRCm39) S148P probably benign Het
Rrm2b T C 15: 37,947,044 (GRCm39) K86E possibly damaging Het
Sh2d1b2 A G 1: 170,075,742 (GRCm39) K59E possibly damaging Het
Six6 T A 12: 72,987,100 (GRCm39) W91R probably damaging Het
Slc23a2 C A 2: 131,931,092 (GRCm39) A136S possibly damaging Het
Slc9a5 G A 8: 106,086,012 (GRCm39) R593H probably damaging Het
Smbd1 T C 16: 32,630,804 (GRCm39) M1V probably null Het
Ssbp4 T C 8: 71,051,647 (GRCm39) Y239C probably damaging Het
Stox1 T C 10: 62,501,345 (GRCm39) E405G probably damaging Het
Tle7 C T 8: 110,836,735 (GRCm39) T207M probably damaging Het
Tmem192 A G 8: 65,418,196 (GRCm39) I194V probably benign Het
Tns3 A T 11: 8,395,667 (GRCm39) C1246S probably damaging Het
Ugt1a6a A T 1: 88,066,575 (GRCm39) Q127L probably benign Het
Ush2a A G 1: 188,275,025 (GRCm39) I1833V probably benign Het
Vmn2r66 A T 7: 84,656,093 (GRCm39) Y308N probably benign Het
Vti1a T G 19: 55,564,917 (GRCm39) L191R probably benign Het
Zbtb38 A T 9: 96,570,153 (GRCm39) N310K 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
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
Predicted Primers PCR Primer
(F):5'- TGTAGAGTCTGTGCCATAAGGG -3'
(R):5'- CCAACTACAGTGAGGCTTGG -3'

Sequencing Primer
(F):5'- TCCAAGGTGGCTCCCTTAG -3'
(R):5'- CTACAGTGAGGCTTGGAAGAAGAC -3'
Posted On 2020-06-30