Incidental Mutation 'IGL02873:Tyw1'
ID 362595
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tyw1
Ensembl Gene ENSMUSG00000056310
Gene Name tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)
Synonyms Rsafd1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02873
Quality Score
Status
Chromosome 5
Chromosomal Location 130284460-130370404 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130364171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 621 (R621C)
Ref Sequence ENSEMBL: ENSMUSP00000037173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040213]
AlphaFold Q8BJM7
Predicted Effect probably benign
Transcript: ENSMUST00000040213
AA Change: R621C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000037173
Gene: ENSMUSG00000056310
AA Change: R621C

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
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik A T 7: 50,249,431 (GRCm39) H155L probably damaging Het
5830462I19Rik G A 9: 110,203,446 (GRCm39) probably benign Het
Ankib1 T A 5: 3,822,619 (GRCm39) Q29L probably damaging Het
Arid5b A T 10: 67,937,780 (GRCm39) M449K probably benign Het
Atp1a1 A G 3: 101,483,894 (GRCm39) V1017A probably benign Het
Cfap52 G T 11: 67,822,608 (GRCm39) T421K probably damaging Het
Chd8 A T 14: 52,459,970 (GRCm39) I780N probably damaging Het
Cubn T C 2: 13,299,181 (GRCm39) D3164G probably benign Het
Cyp4f37 A T 17: 32,844,142 (GRCm39) Q82L probably benign Het
Eml6 T A 11: 29,830,700 (GRCm39) D265V probably benign Het
Gm14393 T C 2: 174,903,595 (GRCm39) D104G possibly damaging Het
Gpat2 T C 2: 127,273,675 (GRCm39) V271A probably benign Het
Ifna4 T C 4: 88,760,423 (GRCm39) F109S probably damaging Het
Il27ra T C 8: 84,758,164 (GRCm39) S529G probably benign Het
Jag2 A G 12: 112,874,122 (GRCm39) L1011P probably benign Het
Kif7 A G 7: 79,356,507 (GRCm39) L728P probably damaging Het
Klhl21 T C 4: 152,099,817 (GRCm39) V509A probably benign Het
Map2k4 T A 11: 65,610,400 (GRCm39) N92I probably damaging Het
Myo15a A T 11: 60,374,308 (GRCm39) D1288V probably damaging Het
Or4k37 T C 2: 111,159,217 (GRCm39) V151A probably benign Het
Or5g25 C A 2: 85,478,096 (GRCm39) A190S possibly damaging Het
Paip1 T A 13: 119,582,348 (GRCm39) F275L possibly damaging Het
Plxnd1 T C 6: 115,936,937 (GRCm39) D1624G probably damaging Het
Ppwd1 C A 13: 104,346,261 (GRCm39) D465Y probably damaging Het
Resf1 T C 6: 149,228,538 (GRCm39) L528P probably damaging Het
Rftn1 A C 17: 50,476,180 (GRCm39) probably benign Het
Scn1b T A 7: 30,817,182 (GRCm39) Y180F probably damaging Het
Slc16a4 A G 3: 107,208,111 (GRCm39) D207G probably benign Het
Slc2a3 T C 6: 122,717,373 (GRCm39) T28A probably damaging Het
Slc47a1 G A 11: 61,253,643 (GRCm39) probably benign Het
Spata1 A T 3: 146,193,122 (GRCm39) V123D possibly damaging Het
Stard9 T C 2: 120,544,288 (GRCm39) V4469A probably damaging Het
Trmu T A 15: 85,781,033 (GRCm39) probably null Het
Trrap T A 5: 144,777,889 (GRCm39) probably benign Het
Ttn T C 2: 76,726,475 (GRCm39) probably benign Het
Tubgcp6 T C 15: 88,988,027 (GRCm39) D974G probably benign Het
Usp7 A T 16: 8,513,058 (GRCm39) probably benign Het
Zfp39 T C 11: 58,781,848 (GRCm39) K305E probably benign Het
Zfp692 C T 11: 58,199,765 (GRCm39) T118M probably damaging Het
Other mutations in Tyw1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02329:Tyw1 APN 5 130,295,921 (GRCm39) missense probably benign 0.20
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
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
Posted On 2015-12-18