Incidental Mutation 'R9471:Tyw1'
ID 715456
Institutional Source Beutler Lab
Gene Symbol Tyw1
Ensembl Gene ENSMUSG00000056310
Gene Name tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)
Synonyms Rsafd1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9471 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 130284460-130370404 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 130298065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 202 (R202Q)
Ref Sequence ENSEMBL: ENSMUSP00000037173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040213] [ENSMUST00000044204] [ENSMUST00000100662] [ENSMUST00000147619]
AlphaFold Q8BJM7
Predicted Effect probably damaging
Transcript: ENSMUST00000040213
AA Change: R202Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037173
Gene: ENSMUSG00000056310
AA Change: R202Q

DomainStartEndE-ValueType
transmembrane domain 20 39 N/A INTRINSIC
Pfam:Flavodoxin_1 73 224 1.6e-27 PFAM
low complexity region 276 288 N/A INTRINSIC
Pfam:Radical_SAM 399 581 1.1e-29 PFAM
Pfam:Wyosine_form 583 646 3.6e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000044204
AA Change: R202Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047318
Gene: ENSMUSG00000056310
AA Change: R202Q

DomainStartEndE-ValueType
transmembrane domain 20 39 N/A INTRINSIC
Pfam:Flavodoxin_1 73 224 1.5e-27 PFAM
low complexity region 276 288 N/A INTRINSIC
transmembrane domain 375 397 N/A INTRINSIC
transmembrane domain 423 445 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100662
AA Change: R202Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098226
Gene: ENSMUSG00000056310
AA Change: R202Q

DomainStartEndE-ValueType
transmembrane domain 20 39 N/A INTRINSIC
Pfam:Flavodoxin_1 73 224 4.9e-28 PFAM
low complexity region 276 288 N/A INTRINSIC
low complexity region 319 332 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000147619
AA Change: R179Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123693
Gene: ENSMUSG00000056310
AA Change: R179Q

DomainStartEndE-ValueType
Pfam:Flavodoxin_1 50 201 4.3e-28 PFAM
Meta Mutation Damage Score 0.3244 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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 found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,565,319 (GRCm39) K368E probably damaging Het
Adgrl2 T C 3: 148,558,365 (GRCm39) T448A probably benign Het
Aff4 C T 11: 53,271,473 (GRCm39) P337S probably benign Het
Alg12 G A 15: 88,690,621 (GRCm39) Q406* probably null Het
Anapc5 T C 5: 122,944,308 (GRCm39) Y302C probably damaging Het
Apol7a A G 15: 77,273,680 (GRCm39) S261P possibly damaging Het
Atad5 G T 11: 80,023,524 (GRCm39) K1545N possibly damaging Het
Atp6v1f T A 6: 29,467,941 (GRCm39) D42E probably benign Het
Bcl6 T A 16: 23,791,857 (GRCm39) N166Y probably benign Het
Btbd7 C T 12: 102,760,145 (GRCm39) R601Q probably damaging Het
Casp1 A G 9: 5,304,187 (GRCm39) E287G probably benign Het
Cd300c A T 11: 114,847,216 (GRCm39) V193E probably damaging Het
Cd300lg T A 11: 101,944,920 (GRCm39) S377T probably benign Het
Ceacam13 T A 7: 17,753,012 (GRCm39) *264R probably null Het
Clasrp G A 7: 19,319,172 (GRCm39) R498* probably null Het
Clec4n T A 6: 123,221,505 (GRCm39) N146K probably benign Het
Cntln T A 4: 84,968,019 (GRCm39) V746E possibly damaging Het
Defa29 T C 8: 21,816,901 (GRCm39) T31A possibly damaging Het
Egr4 A G 6: 85,489,695 (GRCm39) S122P possibly damaging Het
Fam221a T G 6: 49,349,520 (GRCm39) D28E probably damaging Het
Fanca G A 8: 124,000,897 (GRCm39) T1161I possibly damaging Het
Fcsk T C 8: 111,610,041 (GRCm39) E991G probably benign Het
Frat2 A G 19: 41,836,113 (GRCm39) S80P probably benign Het
Gse1 C A 8: 121,301,845 (GRCm39) S985R unknown Het
H2-M3 T A 17: 37,581,988 (GRCm39) I148N probably damaging Het
Hs6st3 G T 14: 119,376,235 (GRCm39) V137L probably damaging Het
Ighv1-42 T A 12: 114,900,927 (GRCm39) M53L probably benign Het
Klhl24 C T 16: 19,941,735 (GRCm39) T561I Het
Klhl26 C G 8: 70,904,803 (GRCm39) G369A probably damaging Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Lrrd1 A T 5: 3,913,980 (GRCm39) D750V Het
Mc5r A G 18: 68,472,127 (GRCm39) D162G probably damaging Het
Mrc2 T A 11: 105,234,559 (GRCm39) S1026R probably benign Het
Nf1 A G 11: 79,436,195 (GRCm39) H1945R probably damaging Het
Nr4a2 A G 2: 57,002,114 (GRCm39) M113T probably benign Het
Obox2 G A 7: 15,131,113 (GRCm39) G73D probably damaging Het
Or1af1 G A 2: 37,110,400 (GRCm39) A300T probably damaging Het
Or2t48 A T 11: 58,420,355 (GRCm39) C152* probably null Het
Pappa2 C T 1: 158,642,029 (GRCm39) M1342I probably benign Het
Pla2g6 A T 15: 79,202,039 (GRCm39) L44Q probably damaging Het
Pnpla1 A T 17: 29,099,973 (GRCm39) Q280L probably benign Het
Pramel23 T A 4: 143,423,749 (GRCm39) T347S probably damaging Het
Prdm1 C T 10: 44,326,174 (GRCm39) G117S probably damaging Het
Prss36 A T 7: 127,545,605 (GRCm39) F6I probably benign Het
Sat2 A G 11: 69,513,725 (GRCm39) Y81C probably damaging Het
Sbspon T C 1: 15,962,677 (GRCm39) D67G probably benign Het
Shank2 G A 7: 143,964,752 (GRCm39) V787M possibly damaging Het
Stoml1 A T 9: 58,163,968 (GRCm39) I96F probably damaging Het
Tet2 C T 3: 133,191,680 (GRCm39) G918D probably damaging Het
Tgm4 A G 9: 122,869,444 (GRCm39) I8V probably benign Het
Tmem156 C T 5: 65,237,531 (GRCm39) R43K probably damaging Het
Trim44 T C 2: 102,230,651 (GRCm39) S127G unknown Het
Ttn C T 2: 76,598,846 (GRCm39) V19356M probably damaging Het
Vmn2r67 A C 7: 84,799,723 (GRCm39) probably null Het
Wdr90 C A 17: 26,080,015 (GRCm39) V107L possibly damaging Het
Zfp316 T C 5: 143,241,161 (GRCm39) D286G unknown Het
Zfp981 C A 4: 146,622,080 (GRCm39) P335Q probably benign Het
Zscan18 T C 7: 12,508,343 (GRCm39) T386A possibly damaging Het
Other mutations in Tyw1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02329:Tyw1 APN 5 130,295,921 (GRCm39) missense probably benign 0.20
IGL02873:Tyw1 APN 5 130,364,171 (GRCm39) missense probably benign 0.00
IGL02879:Tyw1 APN 5 130,325,612 (GRCm39) missense probably damaging 1.00
IGL03080:Tyw1 APN 5 130,295,896 (GRCm39) missense probably damaging 1.00
IGL03291:Tyw1 APN 5 130,328,834 (GRCm39) missense probably damaging 1.00
IGL03297:Tyw1 APN 5 130,369,575 (GRCm39) missense probably damaging 1.00
remnant UTSW 5 130,291,762 (GRCm39) missense probably damaging 0.99
schimmel UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
tyrone UTSW 5 130,325,520 (GRCm39) nonsense probably null
yang UTSW 5 130,287,876 (GRCm39) missense probably damaging 0.98
R1420:Tyw1 UTSW 5 130,303,586 (GRCm39) critical splice donor site probably null
R1650:Tyw1 UTSW 5 130,317,752 (GRCm39) missense possibly damaging 0.91
R1674:Tyw1 UTSW 5 130,298,169 (GRCm39) missense probably benign 0.01
R1789:Tyw1 UTSW 5 130,287,834 (GRCm39) missense probably damaging 0.99
R1996:Tyw1 UTSW 5 130,291,652 (GRCm39) splice site probably benign
R2421:Tyw1 UTSW 5 130,298,101 (GRCm39) missense probably damaging 1.00
R3913:Tyw1 UTSW 5 130,287,876 (GRCm39) missense probably damaging 0.98
R4412:Tyw1 UTSW 5 130,364,073 (GRCm39) splice site probably null
R4835:Tyw1 UTSW 5 130,305,899 (GRCm39) missense probably benign
R5058:Tyw1 UTSW 5 130,305,927 (GRCm39) missense probably benign 0.03
R5190:Tyw1 UTSW 5 130,296,756 (GRCm39) nonsense probably null
R5398:Tyw1 UTSW 5 130,305,998 (GRCm39) intron probably benign
R5459:Tyw1 UTSW 5 130,303,547 (GRCm39) missense probably damaging 1.00
R5597:Tyw1 UTSW 5 130,303,498 (GRCm39) missense probably benign 0.00
R5704:Tyw1 UTSW 5 130,310,863 (GRCm39) nonsense probably null
R5825:Tyw1 UTSW 5 130,296,929 (GRCm39) missense probably damaging 0.99
R5887:Tyw1 UTSW 5 130,354,540 (GRCm39) missense probably damaging 1.00
R6072:Tyw1 UTSW 5 130,296,752 (GRCm39) missense possibly damaging 0.92
R6349:Tyw1 UTSW 5 130,305,872 (GRCm39) missense possibly damaging 0.82
R6366:Tyw1 UTSW 5 130,310,792 (GRCm39) unclassified probably benign
R7012:Tyw1 UTSW 5 130,306,571 (GRCm39) splice site probably null
R7259:Tyw1 UTSW 5 130,296,713 (GRCm39) splice site probably null
R7328:Tyw1 UTSW 5 130,291,685 (GRCm39) missense probably benign 0.08
R7555:Tyw1 UTSW 5 130,303,547 (GRCm39) missense probably damaging 1.00
R8006:Tyw1 UTSW 5 130,296,913 (GRCm39) missense possibly damaging 0.87
R8171:Tyw1 UTSW 5 130,328,855 (GRCm39) missense probably benign 0.19
R8196:Tyw1 UTSW 5 130,328,862 (GRCm39) missense probably damaging 1.00
R8714:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R8715:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R8716:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R8970:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R8992:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R9117:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R9119:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R9120:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R9172:Tyw1 UTSW 5 130,325,520 (GRCm39) nonsense probably null
R9204:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R9205:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R9207:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R9325:Tyw1 UTSW 5 130,291,762 (GRCm39) missense probably damaging 0.99
R9364:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R9368:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R9369:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R9470:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R9566:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
R9567:Tyw1 UTSW 5 130,298,065 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTGGAAGCCTGCTTTAG -3'
(R):5'- ATCCCCAGGATGCAATTCG -3'

Sequencing Primer
(F):5'- CTGGAAGCCTGCTTTAGAGGAC -3'
(R):5'- CAGGATGCAATTCGCCTTG -3'
Posted On 2022-06-15