Incidental Mutation 'R6090:Tyw3'
ID 486134
Institutional Source Beutler Lab
Gene Symbol Tyw3
Ensembl Gene ENSMUSG00000047583
Gene Name tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)
Synonyms 5230400J09Rik
MMRRC Submission 044247-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R6090 (G1)
Quality Score 131.008
Status Not validated
Chromosome 3
Chromosomal Location 154282157-154302750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154302704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 10 (H10R)
Ref Sequence ENSEMBL: ENSMUSP00000114437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029850] [ENSMUST00000052774] [ENSMUST00000122976] [ENSMUST00000135723] [ENSMUST00000140644] [ENSMUST00000144764] [ENSMUST00000184537] [ENSMUST00000155232] [ENSMUST00000170461] [ENSMUST00000155385] [ENSMUST00000192462] [ENSMUST00000194876]
AlphaFold Q8BSA9
Predicted Effect probably benign
Transcript: ENSMUST00000029850
SMART Domains Protein: ENSMUSP00000029850
Gene: ENSMUSG00000028199

DomainStartEndE-ValueType
Pfam:ADH_N 35 131 3.3e-14 PFAM
Pfam:ADH_zinc_N 160 290 1.3e-30 PFAM
Pfam:ADH_zinc_N_2 192 329 1.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052774
SMART Domains Protein: ENSMUSP00000057828
Gene: ENSMUSG00000047583

DomainStartEndE-ValueType
Pfam:TYW3 9 194 8.1e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122976
AA Change: H10R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000114437
Gene: ENSMUSG00000047583
AA Change: H10R

DomainStartEndE-ValueType
Pfam:TYW3 31 149 4.4e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135723
SMART Domains Protein: ENSMUSP00000143311
Gene: ENSMUSG00000028199

DomainStartEndE-ValueType
PDB:1YB5|B 1 38 5e-17 PDB
SCOP:d1qora1 9 38 9e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140644
SMART Domains Protein: ENSMUSP00000115146
Gene: ENSMUSG00000028199

DomainStartEndE-ValueType
Pfam:ADH_N 35 98 1.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144764
SMART Domains Protein: ENSMUSP00000121269
Gene: ENSMUSG00000028199

DomainStartEndE-ValueType
Pfam:ADH_N 35 132 2.6e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148680
Predicted Effect probably benign
Transcript: ENSMUST00000184537
SMART Domains Protein: ENSMUSP00000139387
Gene: ENSMUSG00000028199

DomainStartEndE-ValueType
Pfam:ADH_N 35 180 4.7e-17 PFAM
Pfam:ADH_zinc_N 160 218 5.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155232
SMART Domains Protein: ENSMUSP00000118449
Gene: ENSMUSG00000028199

DomainStartEndE-ValueType
Pfam:ADH_N 35 135 3.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170461
SMART Domains Protein: ENSMUSP00000131461
Gene: ENSMUSG00000047583

DomainStartEndE-ValueType
Pfam:TYW3 8 144 8.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155385
SMART Domains Protein: ENSMUSP00000122619
Gene: ENSMUSG00000028199

DomainStartEndE-ValueType
Pfam:ADH_N 35 130 2.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192462
SMART Domains Protein: ENSMUSP00000142105
Gene: ENSMUSG00000028199

DomainStartEndE-ValueType
Pfam:ADH_N 35 131 2.8e-16 PFAM
Pfam:ADH_zinc_N 160 290 1.8e-29 PFAM
Pfam:ADH_zinc_N_2 192 329 4.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194876
SMART Domains Protein: ENSMUSP00000142101
Gene: ENSMUSG00000028199

DomainStartEndE-ValueType
Pfam:ADH_N 35 139 2.2e-14 PFAM
Pfam:ADH_zinc_N 160 290 1.4e-27 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,624,972 (GRCm39) A450V probably benign Het
Abca8a T C 11: 109,954,048 (GRCm39) probably null Het
Adgrl3 A T 5: 81,660,173 (GRCm39) N246I probably damaging Het
Bmal2 T A 6: 146,731,194 (GRCm39) S500T possibly damaging Het
Cdipt A T 7: 126,576,131 (GRCm39) M29L possibly damaging Het
Chml G T 1: 175,514,624 (GRCm39) Y432* probably null Het
Clasp2 G T 9: 113,681,803 (GRCm39) V320L probably benign Het
Col12a1 G A 9: 79,599,675 (GRCm39) T826M probably damaging Het
Cpsf3 A G 12: 21,345,194 (GRCm39) I169V probably damaging Het
Dhx36 G A 3: 62,404,241 (GRCm39) T234M probably damaging Het
Dhx57 A G 17: 80,571,375 (GRCm39) probably null Het
Dnah1 A T 14: 30,991,382 (GRCm39) I3132N possibly damaging Het
Fbxw20 G T 9: 109,052,431 (GRCm39) Q231K probably benign Het
Gfod1 G T 13: 43,354,437 (GRCm39) Y179* probably null Het
Glg1 T A 8: 111,907,667 (GRCm39) I510F probably damaging Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gse1 C A 8: 121,297,908 (GRCm39) probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Klrd1 T C 6: 129,572,499 (GRCm39) L97P probably damaging Het
Lgmn A T 12: 102,366,413 (GRCm39) M240K probably damaging Het
Lrp1b A G 2: 41,075,880 (GRCm39) probably null Het
Notch2 A T 3: 98,042,693 (GRCm39) R1353* probably null Het
Or2d2b A G 7: 106,705,456 (GRCm39) V204A possibly damaging Het
Or5t18 A C 2: 86,636,701 (GRCm39) V214G possibly damaging Het
Pcdhb14 G A 18: 37,581,659 (GRCm39) S255N probably benign Het
Pcgf2 C T 11: 97,581,817 (GRCm39) M25I possibly damaging Het
Poll G T 19: 45,544,436 (GRCm39) D328E probably benign Het
Pomgnt2 A T 9: 121,811,863 (GRCm39) L306Q probably damaging Het
Proser1 A T 3: 53,386,088 (GRCm39) M657L probably benign Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Rdh11 G T 12: 79,235,838 (GRCm39) P37T probably benign Het
Rsph10b A T 5: 143,913,946 (GRCm39) I286L probably benign Het
Septin4 G A 11: 87,480,343 (GRCm39) R238K possibly damaging Het
Sptan1 C T 2: 29,883,899 (GRCm39) R580C probably damaging Het
Stard9 T A 2: 120,524,135 (GRCm39) W777R probably damaging Het
Timd2 T C 11: 46,578,063 (GRCm39) T23A probably benign Het
Tmc4 A G 7: 3,674,052 (GRCm39) Y376H probably damaging Het
Tmem143 A G 7: 45,558,950 (GRCm39) I297M probably benign Het
Togaram1 A G 12: 65,014,575 (GRCm39) T609A probably benign Het
Unc13b C A 4: 43,239,306 (GRCm39) H3456Q probably damaging Het
Zfp131 A T 13: 120,237,532 (GRCm39) H275Q probably damaging 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
R6982:Tyw3 UTSW 3 154,285,867 (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'- AACTCTTCCCGCGAGTTCAG -3'
(R):5'- GCAGACAAGAGTAGGACCTTGC -3'

Sequencing Primer
(F):5'- GAGTTCAGGAGCTCCACCAC -3'
(R):5'- TCCTAAGCTCCAGAAGGTCTGTG -3'
Posted On 2017-08-16