Incidental Mutation 'IGL00801:Qtrt2'
ID13716
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Qtrt2
Ensembl Gene ENSMUSG00000022704
Gene Namequeuine tRNA-ribosyltransferase accessory subunit 2
Synonyms3110012M05Rik, 4930470H18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL00801
Quality Score
Status
Chromosome16
Chromosomal Location43861407-43926809 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43881189 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 3 (K3E)
Ref Sequence ENSEMBL: ENSMUSP00000115274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023387] [ENSMUST00000134792]
Predicted Effect probably damaging
Transcript: ENSMUST00000023387
AA Change: K3E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023387
Gene: ENSMUSG00000022704
AA Change: K3E

DomainStartEndE-ValueType
Pfam:TGT 95 340 7.1e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131360
Predicted Effect probably damaging
Transcript: ENSMUST00000134792
AA Change: K3E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115274
Gene: ENSMUSG00000022704
AA Change: K3E

DomainStartEndE-ValueType
SCOP:d1k4ga_ 2 67 3e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156568
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 a 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. The encoded protein may play a role in the queuosine 5'-monophosphate salvage pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T C 12: 72,881,386 T524A possibly damaging Het
Abcb7 T C X: 104,295,978 I562V possibly damaging Het
Anapc4 T A 5: 52,857,211 V472D probably damaging Het
Arhgef37 A G 18: 61,499,834 Y511H probably damaging Het
Atxn3 A G 12: 101,926,508 S316P possibly damaging Het
B3galt1 A T 2: 68,117,976 T12S possibly damaging Het
Cdc14a G T 3: 116,294,844 S394* probably null Het
Celsr3 T C 9: 108,842,576 V2458A probably benign Het
Cyr61 T A 3: 145,648,610 D182V probably damaging Het
Dapk1 C T 13: 60,761,248 T1225I probably benign Het
Fyb A G 15: 6,644,824 K647R possibly damaging Het
Gabra5 C A 7: 57,488,988 W104L probably damaging Het
Gjb6 A T 14: 57,124,041 N254K possibly damaging Het
Golga4 T A 9: 118,538,926 L371Q probably damaging Het
Gucy2g C T 19: 55,233,103 R322Q probably benign Het
Hnf1b C T 11: 83,855,924 A122V probably damaging Het
Insrr C T 3: 87,813,808 L1089F probably damaging Het
Knop1 A G 7: 118,852,644 V284A probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Map1b C T 13: 99,430,097 E2039K unknown Het
Myof A G 19: 37,986,073 I206T probably damaging Het
Nf1 A T 11: 79,428,700 probably benign Het
Nol8 A G 13: 49,662,228 D586G probably benign Het
Nudt5 T C 2: 5,866,357 F166S probably damaging Het
Ociad1 T A 5: 73,304,566 Y87N probably damaging Het
Rictor G A 15: 6,794,534 V1627I probably damaging Het
Skint2 A T 4: 112,625,991 M198L possibly damaging Het
Slitrk5 A G 14: 111,680,665 M574V probably benign Het
Thbs1 A G 2: 118,122,973 D957G probably damaging Het
Tmem198b A C 10: 128,803,145 L43R probably damaging Het
Trpa1 A G 1: 14,891,333 M627T probably damaging Het
Zdbf2 T C 1: 63,303,038 F192S possibly damaging Het
Zfp961 T G 8: 71,965,888 M54R probably damaging Het
Other mutations in Qtrt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1018:Qtrt2 UTSW 16 43878000 missense possibly damaging 0.93
R1258:Qtrt2 UTSW 16 43869083 missense possibly damaging 0.77
R1499:Qtrt2 UTSW 16 43868974 missense probably benign 0.43
R1574:Qtrt2 UTSW 16 43871832 unclassified probably benign
R1830:Qtrt2 UTSW 16 43871655 missense probably damaging 1.00
R2013:Qtrt2 UTSW 16 43869092 missense probably damaging 1.00
R3835:Qtrt2 UTSW 16 43881072 missense probably damaging 1.00
R5199:Qtrt2 UTSW 16 43867425 missense probably benign 0.10
Posted On2012-12-06