Incidental Mutation 'IGL03080:Tyw1'
ID417819
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 #IGL03080
Quality Score
Status
Chromosome5
Chromosomal Location130255619-130341563 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 130267055 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 108 (Y108H)
Ref Sequence ENSEMBL: ENSMUSP00000047318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040213] [ENSMUST00000044204] [ENSMUST00000100662] [ENSMUST00000147619]
Predicted Effect probably damaging
Transcript: ENSMUST00000040213
AA Change: Y108H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037173
Gene: ENSMUSG00000056310
AA Change: Y108H

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: Y108H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047318
Gene: ENSMUSG00000056310
AA Change: Y108H

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: Y108H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000098226
Gene: ENSMUSG00000056310
AA Change: Y108H

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: Y85H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123693
Gene: ENSMUSG00000056310
AA Change: Y85H

DomainStartEndE-ValueType
Pfam:Flavodoxin_1 50 201 4.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173375
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T C 10: 82,283,982 D428G probably damaging Het
Abce1 T C 8: 79,703,001 probably null Het
Adgrf3 T C 5: 30,196,829 M734V probably benign Het
Aqp8 T G 7: 123,466,579 probably benign Het
Ces1d C A 8: 93,169,718 probably null Het
Cntn4 A G 6: 106,655,539 D508G probably damaging Het
Cyp11b1 A T 15: 74,839,436 probably null Het
Dnah8 A G 17: 30,719,006 D1619G probably benign Het
Ephb4 T A 5: 137,354,083 probably benign Het
Ffar3 A T 7: 30,855,322 V191E probably damaging Het
Galnt1 T A 18: 24,269,517 D310E probably damaging Het
Gm2075 A T 12: 88,011,845 probably benign Het
Igf2r T C 17: 12,726,676 Y342C probably benign Het
Jade1 T A 3: 41,600,075 C251* probably null Het
Jhy T C 9: 40,944,357 E278G probably damaging Het
Kif24 A C 4: 41,394,417 S819A probably benign Het
Lrp8 T C 4: 107,855,799 L344P probably damaging Het
Lrrc27 A G 7: 139,230,237 T375A probably benign Het
Mbd3 C T 10: 80,393,251 R204Q probably damaging Het
Nab2 T C 10: 127,664,794 N143S possibly damaging Het
Nkiras2 T C 11: 100,624,279 probably null Het
Olfr868 A T 9: 20,101,409 I217F probably damaging Het
Palm C A 10: 79,819,117 H74Q probably damaging Het
Pros1 T A 16: 62,918,143 N408K probably damaging Het
Psg23 T A 7: 18,606,985 Y448F probably damaging Het
Ranbp2 C A 10: 58,476,791 P1111Q probably benign Het
Rims2 A G 15: 39,535,903 S1115G probably damaging Het
Scn7a T C 2: 66,697,816 T777A probably benign Het
Stard3nl A T 13: 19,370,478 probably null Het
Sult1d1 T C 5: 87,556,988 D214G probably benign Het
Tmprss12 T C 15: 100,292,648 W300R probably damaging Het
Tmprss2 T C 16: 97,596,844 Y44C probably damaging Het
Ttk A G 9: 83,843,083 N154D probably damaging Het
Vmn2r44 C A 7: 8,383,245 probably benign Het
Zcchc11 T A 4: 108,505,824 S444R probably damaging Het
Zfand1 A G 3: 10,340,737 *269Q probably null Het
Zfp142 A T 1: 74,571,209 D1039E probably benign Het
Zkscan5 G T 5: 145,218,650 S377I probably 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
IGL02879:Tyw1 APN 5 130296771 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 On2016-08-02