Incidental Mutation 'IGL02879:Tyw1'
ID362755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tyw1
Ensembl Gene ENSMUSG00000056310
Gene NametRNA-yW synthesizing protein 1 homolog (S. cerevisiae)
SynonymsRsafd1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02879
Quality Score
Status
Chromosome5
Chromosomal Location130255619-130341563 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 130296771 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 500 (V500A)
Ref Sequence ENSEMBL: ENSMUSP00000037173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040213]
Predicted Effect probably damaging
Transcript: ENSMUST00000040213
AA Change: V500A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037173
Gene: ENSMUSG00000056310
AA Change: V500A

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A G 5: 81,512,119 Y245C probably damaging Het
Asb3 G A 11: 31,101,067 R507H probably damaging Het
AU019823 C T 9: 50,609,371 probably null Het
Cacna1g A C 11: 94,409,605 I2118S probably benign Het
Col3a1 A T 1: 45,340,959 probably benign Het
Ecscr T C 18: 35,713,678 N221S possibly damaging Het
Enpp4 T C 17: 44,101,950 D231G probably benign Het
Fastkd5 A G 2: 130,614,421 Y750H probably damaging Het
Gm42688 A G 6: 83,107,144 Y510C probably damaging Het
Gtse1 T C 15: 85,869,063 probably benign Het
Il4ra A G 7: 125,576,897 E759G possibly damaging Het
Itgb4 A G 11: 115,994,352 D1019G probably benign Het
Kcnh1 T C 1: 192,276,915 V259A probably damaging Het
Ksr1 G A 11: 79,074,444 L15F probably damaging Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Myh15 A T 16: 49,173,059 T1686S possibly damaging Het
Neb A C 2: 52,256,685 L2856V possibly damaging Het
Pcnx2 A T 8: 125,772,057 C1568S probably damaging Het
Pld5 T A 1: 175,970,591 K352I probably damaging Het
Prmt3 A G 7: 49,818,063 D339G probably benign Het
Ptbp2 A G 3: 119,740,405 Y272H probably damaging Het
Ptprb A G 10: 116,327,968 D847G probably benign Het
Rin1 C T 19: 5,051,355 T89I probably damaging Het
Runx1t1 T C 4: 13,889,868 I599T unknown Het
Serinc3 A G 2: 163,632,252 probably benign Het
Slc27a5 C T 7: 12,995,044 probably benign Het
Terf2 C T 8: 107,076,697 S417N probably benign Het
Upk1b G A 16: 38,776,278 probably benign Het
Vmn1r81 C T 7: 12,260,392 M96I probably benign Het
Vmn2r11 A T 5: 109,053,838 Y267N possibly damaging Het
Other mutations in Tyw1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02329:Tyw1 APN 5 130267080 missense probably benign 0.20
IGL02873:Tyw1 APN 5 130335330 missense probably benign 0.00
IGL03080:Tyw1 APN 5 130267055 missense probably damaging 1.00
IGL03291:Tyw1 APN 5 130299993 missense probably damaging 1.00
IGL03297:Tyw1 APN 5 130340734 missense probably damaging 1.00
R1420:Tyw1 UTSW 5 130274745 critical splice donor site probably null
R1650:Tyw1 UTSW 5 130288911 missense possibly damaging 0.91
R1674:Tyw1 UTSW 5 130269328 missense probably benign 0.01
R1789:Tyw1 UTSW 5 130258993 missense probably damaging 0.99
R1996:Tyw1 UTSW 5 130262811 splice site probably benign
R2421:Tyw1 UTSW 5 130269260 missense probably damaging 1.00
R3913:Tyw1 UTSW 5 130259035 missense probably damaging 0.98
R4412:Tyw1 UTSW 5 130335232 splice site probably null
R4835:Tyw1 UTSW 5 130277058 missense probably benign
R5058:Tyw1 UTSW 5 130277086 missense probably benign 0.03
R5190:Tyw1 UTSW 5 130267915 nonsense probably null
R5398:Tyw1 UTSW 5 130277157 intron probably benign
R5459:Tyw1 UTSW 5 130274706 missense probably damaging 1.00
R5597:Tyw1 UTSW 5 130274657 missense probably benign 0.00
R5704:Tyw1 UTSW 5 130282022 nonsense probably null
R5825:Tyw1 UTSW 5 130268088 missense probably damaging 0.99
R5887:Tyw1 UTSW 5 130325699 missense probably damaging 1.00
R6072:Tyw1 UTSW 5 130267911 missense possibly damaging 0.92
R6349:Tyw1 UTSW 5 130277031 missense possibly damaging 0.82
R6366:Tyw1 UTSW 5 130281951 unclassified probably benign
R7012:Tyw1 UTSW 5 130277730 splice site probably null
R7259:Tyw1 UTSW 5 130267872 splice site probably null
R7328:Tyw1 UTSW 5 130262844 missense probably benign 0.08
R7555:Tyw1 UTSW 5 130274706 missense probably damaging 1.00
R8006:Tyw1 UTSW 5 130268072 missense possibly damaging 0.87
R8171:Tyw1 UTSW 5 130300014 missense probably benign 0.19
R8196:Tyw1 UTSW 5 130300021 missense probably damaging 1.00
R8714:Tyw1 UTSW 5 130269224 missense probably damaging 1.00
R8715:Tyw1 UTSW 5 130269224 missense probably damaging 1.00
R8716:Tyw1 UTSW 5 130269224 missense probably damaging 1.00
Posted On2015-12-18