Incidental Mutation 'R6982:Tyw3'
ID 542718
Institutional Source Beutler Lab
Gene Symbol Tyw3
Ensembl Gene ENSMUSG00000047583
Gene Name tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)
Synonyms 5230400J09Rik
MMRRC Submission 045383-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R6982 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 154282157-154302750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154285867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 208 (I208V)
Ref Sequence ENSEMBL: ENSMUSP00000057828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052774] [ENSMUST00000170461]
AlphaFold Q8BSA9
Predicted Effect probably benign
Transcript: ENSMUST00000052774
AA Change: I208V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000057828
Gene: ENSMUSG00000047583
AA Change: I208V

DomainStartEndE-ValueType
Pfam:TYW3 9 194 8.1e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170461
SMART Domains Protein: ENSMUSP00000131461
Gene: ENSMUSG00000047583

DomainStartEndE-ValueType
Pfam:TYW3 8 144 8.1e-45 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.7%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW3 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T A 13: 70,916,639 (GRCm39) probably null Het
Adamtsl3 C A 7: 82,164,271 (GRCm39) P362H probably damaging Het
Ambra1 G A 2: 91,747,818 (GRCm39) V1065I probably damaging Het
Ankrd66 T C 17: 43,849,926 (GRCm39) T79A probably damaging Het
Ano2 G A 6: 125,969,856 (GRCm39) R724H probably benign Het
Bmp8a A G 4: 123,218,934 (GRCm39) L158P probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cilp T C 9: 65,187,087 (GRCm39) Y1061H probably damaging Het
Clybl G A 14: 122,639,359 (GRCm39) G308R probably damaging Het
Cntnap5c C T 17: 58,399,247 (GRCm39) P367S possibly damaging Het
Col20a1 T C 2: 180,638,499 (GRCm39) V371A probably benign Het
Col24a1 G T 3: 145,020,807 (GRCm39) G393* probably null Het
Dnah12 A G 14: 26,521,033 (GRCm39) probably null Het
Dnah8 T A 17: 30,986,899 (GRCm39) S3183T probably benign Het
Dph2 A T 4: 117,746,993 (GRCm39) I435N probably benign Het
Fam3c G T 6: 22,322,300 (GRCm39) A107D probably damaging Het
Fezf2 G T 14: 12,343,645 (GRCm38) Q367K probably damaging Het
Gbp2 A G 3: 142,335,846 (GRCm39) D182G probably damaging Het
Gpr162 T A 6: 124,837,919 (GRCm39) I244F probably damaging Het
Jakmip1 A T 5: 37,282,285 (GRCm39) N159I probably damaging Het
Jkampl A T 6: 73,446,527 (GRCm39) Y7* probably null Het
Kdm4a A T 4: 118,010,636 (GRCm39) probably null Het
Klf5 A G 14: 99,550,671 (GRCm39) H416R probably damaging Het
Lrrc63 A G 14: 75,322,211 (GRCm39) V631A probably benign Het
Man1a T C 10: 53,950,819 (GRCm39) E101G possibly damaging Het
Msantd4 T A 9: 4,384,061 (GRCm39) N127K possibly damaging Het
Myo3b A T 2: 70,256,409 (GRCm39) E1248D probably benign Het
Ncapd2 A T 6: 125,153,699 (GRCm39) I672N probably damaging Het
Nfic T C 10: 81,256,634 (GRCm39) probably null Het
Nr1h3 A G 2: 91,021,104 (GRCm39) S228P probably damaging Het
Or8g32 T C 9: 39,305,618 (GRCm39) I174T probably damaging Het
Pccb A T 9: 100,905,349 (GRCm39) probably null Het
Pcmtd1 T G 1: 7,217,906 (GRCm39) V118G probably damaging Het
Pkhd1l1 A T 15: 44,429,664 (GRCm39) N3294I probably damaging Het
Plscr4 A G 9: 92,364,796 (GRCm39) T74A probably benign Het
Rasa2 A T 9: 96,442,803 (GRCm39) I540N probably damaging Het
Serpina3j C A 12: 104,283,556 (GRCm39) T218K probably benign Het
Slc16a4 A G 3: 107,206,589 (GRCm39) D173G probably benign Het
Slc19a2 T C 1: 164,084,428 (GRCm39) L106P possibly damaging Het
Slc22a19 C T 19: 7,660,334 (GRCm39) V359M probably benign Het
Slc22a7 T A 17: 46,745,563 (GRCm39) M323L probably benign Het
Spata21 A T 4: 140,824,184 (GRCm39) N149I possibly damaging Het
Spink5 G A 18: 44,110,792 (GRCm39) G121D probably damaging Het
Spink5 T C 18: 44,143,109 (GRCm39) probably null Het
Ssbp4 T C 8: 71,060,815 (GRCm39) S6G possibly damaging Het
Sytl2 T C 7: 90,045,772 (GRCm39) S641P probably damaging Het
Tcf3 A T 10: 80,253,384 (GRCm39) F215I probably damaging Het
Tmem150c C A 5: 100,240,680 (GRCm39) D61Y probably benign Het
Ttc7 T A 17: 87,614,437 (GRCm39) F201I probably damaging Het
Vmn1r202 T C 13: 22,685,917 (GRCm39) T167A probably benign Het
Vmn1r83 A T 7: 12,055,763 (GRCm39) L98Q probably damaging Het
Vmn2r95 T C 17: 18,672,323 (GRCm39) Y687H probably damaging Het
Wdr59 A T 8: 112,187,445 (GRCm39) F783L probably benign Het
Zfhx4 A G 3: 5,468,890 (GRCm39) Y3016C probably damaging Het
Zfp518b T C 5: 38,830,248 (GRCm39) T586A probably benign Het
Other mutations in Tyw3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02444:Tyw3 APN 3 154,302,626 (GRCm39) missense probably damaging 0.98
IGL03226:Tyw3 APN 3 154,293,187 (GRCm39) missense possibly damaging 0.82
R0211:Tyw3 UTSW 3 154,293,132 (GRCm39) missense probably damaging 1.00
R0211:Tyw3 UTSW 3 154,293,132 (GRCm39) missense probably damaging 1.00
R1348:Tyw3 UTSW 3 154,299,451 (GRCm39) missense possibly damaging 0.47
R1443:Tyw3 UTSW 3 154,293,160 (GRCm39) missense probably benign 0.01
R1538:Tyw3 UTSW 3 154,302,506 (GRCm39) missense probably damaging 0.98
R4289:Tyw3 UTSW 3 154,302,645 (GRCm39) missense probably damaging 1.00
R5279:Tyw3 UTSW 3 154,300,108 (GRCm39) missense probably damaging 0.99
R6090:Tyw3 UTSW 3 154,302,704 (GRCm39) missense probably benign 0.01
R7079:Tyw3 UTSW 3 154,299,426 (GRCm39) missense probably benign 0.04
R7080:Tyw3 UTSW 3 154,299,426 (GRCm39) missense probably benign 0.04
R7090:Tyw3 UTSW 3 154,299,426 (GRCm39) missense probably benign 0.04
R9774:Tyw3 UTSW 3 154,302,584 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCTCAGCAAGCCTTGATACTC -3'
(R):5'- AGGTTAAAACACGACATTGTCACG -3'

Sequencing Primer
(F):5'- CTTGTAAAGAGCAGCCTTATACCGTG -3'
(R):5'- TTGTCACGCTTCGAAACAGAG -3'
Posted On 2018-11-28