Incidental Mutation 'R9204:Tyw1'
ID 698372
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 # R9204 (G1)
Quality Score 225.009
Status 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: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (52/52)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T C 8: 60,996,566 (GRCm39) V389A possibly damaging Het
Adgrl1 T C 8: 84,660,519 (GRCm39) F792S probably benign Het
Angptl2 A T 2: 33,118,342 (GRCm39) I39F probably benign Het
Aprt A G 8: 123,303,355 (GRCm39) I29T probably damaging Het
Arhgap21 A T 2: 20,885,816 (GRCm39) S464T probably damaging Het
Atic T C 1: 71,603,636 (GRCm39) Y151H probably damaging Het
BB014433 T C 8: 15,092,623 (GRCm39) T77A unknown Het
Boc C A 16: 44,308,077 (GRCm39) C926F Het
Brd10 A G 19: 29,696,938 (GRCm39) S852P possibly damaging Het
Cabin1 C T 10: 75,530,550 (GRCm39) R1544Q probably benign Het
Ccdc33 A G 9: 57,938,388 (GRCm39) V861A probably benign Het
Ccdc88c T C 12: 100,904,322 (GRCm39) T230A unknown Het
Cdc42bpa T A 1: 179,939,460 (GRCm39) probably null Het
Chrnb2 T C 3: 89,668,128 (GRCm39) M396V probably benign Het
Chst2 A G 9: 95,287,155 (GRCm39) V397A probably damaging Het
Cit T A 5: 116,126,498 (GRCm39) N1643K probably damaging Het
Ckb T A 12: 111,637,869 (GRCm39) D113V probably benign Het
Cyp2c68 A T 19: 39,727,571 (GRCm39) M136K probably damaging Het
Epas1 G T 17: 87,116,873 (GRCm39) R181L probably damaging Het
Flnc A C 6: 29,452,353 (GRCm39) I1726L possibly damaging Het
Fras1 G A 5: 96,883,022 (GRCm39) R2518H probably damaging Het
Gid4 T C 11: 60,308,654 (GRCm39) V58A probably benign Het
Hmcn1 T A 1: 150,610,262 (GRCm39) N1469I probably benign Het
Hmcn2 A G 2: 31,278,377 (GRCm39) E1693G probably damaging Het
Irx4 C G 13: 73,416,649 (GRCm39) C348W probably damaging Het
Lrig2 A G 3: 104,387,438 (GRCm39) S410P possibly damaging Het
Lsm11 A G 11: 45,824,789 (GRCm39) V246A probably benign Het
Ltbp1 G T 17: 75,670,425 (GRCm39) V1489F probably damaging Het
Mc2r T C 18: 68,540,667 (GRCm39) T209A probably benign Het
Mms22l T C 4: 24,581,153 (GRCm39) L821P probably damaging Het
Mtus2 A T 5: 148,238,293 (GRCm39) E1206V probably damaging Het
Muc5b T A 7: 141,410,129 (GRCm39) H1234Q unknown Het
Naip5 A T 13: 100,359,008 (GRCm39) F743I probably damaging Het
Nphp3 G A 9: 103,919,305 (GRCm39) V1318I probably benign Het
Or4c10b T G 2: 89,711,482 (GRCm39) L104W probably damaging Het
Or52a24 A G 7: 103,382,056 (GRCm39) K308E possibly damaging Het
Or5p60 A T 7: 107,723,935 (GRCm39) N178K possibly damaging Het
Or7g26 T C 9: 19,229,995 (GRCm39) L61P probably damaging Het
Or8b4 C A 9: 37,830,670 (GRCm39) T239K probably damaging Het
Or9k2b G C 10: 130,016,566 (GRCm39) P61R probably damaging Het
Paqr5 G A 9: 61,868,826 (GRCm39) R246C probably benign Het
Pdgfb T C 15: 79,885,956 (GRCm39) Q128R probably damaging Het
Prr3 T A 17: 36,285,619 (GRCm39) I88F possibly damaging Het
Ptprd C G 4: 75,872,315 (GRCm39) A1134P possibly damaging Het
R3hcc1l G A 19: 42,552,301 (GRCm39) D433N probably benign Het
Scnn1b A T 7: 121,498,522 (GRCm39) T21S probably benign Het
Smcr8 A G 11: 60,668,857 (GRCm39) I2V probably damaging Het
Stk33 T C 7: 108,940,686 (GRCm39) D8G probably benign Het
Tbc1d22a T C 15: 86,098,803 (GRCm39) F10L probably benign Het
Tmem126a T A 7: 90,102,026 (GRCm39) I58F possibly damaging Het
Ttf2 T C 3: 100,869,880 (GRCm39) K398E probably benign Het
Usp53 G T 3: 122,741,068 (GRCm39) N727K probably benign Het
Vmn2r25 T G 6: 123,830,092 (GRCm39) I20L probably benign Het
Zfp747l1 T A 7: 126,984,332 (GRCm39) I257L unknown 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
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
R9471: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'- ATCCCTGGGTTTCTGCAGTG -3'
(R):5'- CAGGATGCAATTCGCCTTG -3'

Sequencing Primer
(F):5'- CTGGAAGCCTGCTTTAGAGGAC -3'
(R):5'- CGCCTCTCCTGGGCCATG -3'
Posted On 2022-02-07