Incidental Mutation 'R6908:Tyw5'
ID 538846
Institutional Source Beutler Lab
Gene Symbol Tyw5
Ensembl Gene ENSMUSG00000048495
Gene Name tRNA-yW synthesizing protein 5
Synonyms 1110034B05Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock # R6908 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 57388237-57407101 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57401523 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 27 (R27G)
Ref Sequence ENSEMBL: ENSMUSP00000125427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027114] [ENSMUST00000079998] [ENSMUST00000160118] [ENSMUST00000160837] [ENSMUST00000162686]
AlphaFold A2RSX7
Predicted Effect probably benign
Transcript: ENSMUST00000027114
SMART Domains Protein: ENSMUSP00000027114
Gene: ENSMUSG00000025971

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 66 78 N/A INTRINSIC
low complexity region 82 93 N/A INTRINSIC
low complexity region 98 109 N/A INTRINSIC
Blast:Tim44 131 210 3e-11 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000079998
AA Change: R27G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078912
Gene: ENSMUSG00000048495
AA Change: R27G

DomainStartEndE-ValueType
PDB:3AL6|D 1 71 3e-39 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000160118
AA Change: R27G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125386
Gene: ENSMUSG00000048495
AA Change: R27G

DomainStartEndE-ValueType
PDB:3AL6|D 1 71 1e-38 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000160837
AA Change: R21G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128576
Gene: ENSMUSG00000048495
AA Change: R21G

DomainStartEndE-ValueType
JmjC 103 255 2.25e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162686
AA Change: R27G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125427
Gene: ENSMUSG00000048495
AA Change: R27G

DomainStartEndE-ValueType
JmjC 105 265 5.8e-3 SMART
Meta Mutation Damage Score 0.1699 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 95% (52/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T C 16: 56,657,305 I1197T probably benign Het
Atp2a1 A G 7: 126,448,535 probably null Het
B3glct T C 5: 149,696,476 probably null Het
Bbs9 T G 9: 22,567,723 I154S probably damaging Het
Brip1 T C 11: 86,077,884 Y825C probably damaging Het
Ccdc186 A T 19: 56,791,939 probably null Het
Celf6 T C 9: 59,603,823 V349A probably benign Het
Chd9 A G 8: 90,956,416 T495A probably benign Het
Cxxc1 G A 18: 74,220,559 C546Y probably damaging Het
Cxxc5 T C 18: 35,859,215 V223A probably damaging Het
Dlc1 A G 8: 36,937,687 F316S probably benign Het
Dnajc12 C A 10: 63,397,325 Q82K probably benign Het
Dock8 G A 19: 25,188,382 E1877K probably damaging Het
Epha3 T G 16: 63,598,249 H611P probably damaging Het
Fpr-rs6 C A 17: 20,182,439 C220F probably damaging Het
Fryl A G 5: 73,022,211 L2951P probably damaging Het
Gbp10 T G 5: 105,221,032 T314P probably damaging Het
Hbb-bs T C 7: 103,827,534 N77D probably benign Het
Ints13 A T 6: 146,555,033 D438E probably damaging Het
Itgb6 C T 2: 60,650,021 V324M probably benign Het
Kdm7a G T 6: 39,144,439 L861M possibly damaging Het
Kirrel3 A G 9: 35,013,401 T302A possibly damaging Het
Lama2 A T 10: 27,031,196 probably null Het
Lrp2 A T 2: 69,472,365 C3007S probably damaging Het
Lypd3 G C 7: 24,638,433 G75R probably damaging Het
Mastl T C 2: 23,155,976 probably benign Het
Mcf2l T C 8: 13,018,919 V1087A probably benign Het
Mcmdc2 C A 1: 9,930,778 probably null Het
Ms4a3 A G 19: 11,638,295 I39T probably damaging Het
Mylk T G 16: 34,880,273 C495G probably benign Het
Myo10 A G 15: 25,804,383 D1588G probably damaging Het
Myo15 A T 11: 60,506,006 T2634S probably damaging Het
Nlrp1b T C 11: 71,217,296 I460V probably benign Het
Nmt1 T G 11: 103,058,254 S312A possibly damaging Het
Nynrin T G 14: 55,863,878 S335A probably benign Het
Olfr710 T C 7: 106,944,632 Y123C possibly damaging Het
Paxip1 T C 5: 27,791,224 Y19C possibly damaging Het
Pcdhb2 G T 18: 37,296,524 A517S probably damaging Het
Pkd2l1 A G 19: 44,152,446 I559T probably damaging Het
Plec G A 15: 76,185,881 Q806* probably null Het
Prss51 C T 14: 64,096,152 A70V probably benign Het
Psd3 A T 8: 67,964,177 I356K probably benign Het
Ptprn2 A T 12: 116,888,888 I522F probably benign Het
Rab39 T C 9: 53,706,069 D16G probably damaging Het
Ralgps1 T C 2: 33,143,100 Q439R probably benign Het
Rapgef2 A T 3: 79,104,063 D238E probably benign Het
Ripor2 G A 13: 24,706,232 G697S probably damaging Het
Scn11a A T 9: 119,792,426 F642I probably damaging Het
Serinc4 G A 2: 121,453,605 T310I probably benign Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 127,021,626 probably benign Het
Slc36a3 T C 11: 55,149,886 probably benign Het
Smc1b A G 15: 85,107,010 S656P probably damaging Het
Sorbs1 A G 19: 40,352,332 S455P probably damaging Het
Ttn C A 2: 76,889,858 probably benign Het
Vmn1r209 T C 13: 22,806,230 T97A possibly damaging Het
Other mutations in Tyw5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Tyw5 APN 1 57388553 nonsense probably null
IGL01565:Tyw5 APN 1 57394081 missense probably damaging 1.00
IGL01675:Tyw5 APN 1 57388632 missense possibly damaging 0.94
IGL01915:Tyw5 APN 1 57401469 missense probably damaging 0.99
IGL02320:Tyw5 APN 1 57396725 critical splice donor site probably null
IGL02427:Tyw5 APN 1 57388725 missense possibly damaging 0.68
PIT4520001:Tyw5 UTSW 1 57388515 missense probably damaging 1.00
R0053:Tyw5 UTSW 1 57401438 missense probably damaging 0.97
R0053:Tyw5 UTSW 1 57401438 missense probably damaging 0.97
R2421:Tyw5 UTSW 1 57396748 missense possibly damaging 0.58
R2422:Tyw5 UTSW 1 57396748 missense possibly damaging 0.58
R2997:Tyw5 UTSW 1 57388641 missense probably damaging 1.00
R3974:Tyw5 UTSW 1 57391528 missense probably damaging 1.00
R4235:Tyw5 UTSW 1 57388488 utr 3 prime probably benign
R4630:Tyw5 UTSW 1 57388527 missense probably damaging 0.96
R5014:Tyw5 UTSW 1 57406845 start gained probably benign
R5099:Tyw5 UTSW 1 57388705 missense probably damaging 0.99
R5162:Tyw5 UTSW 1 57401459 missense probably damaging 1.00
R6389:Tyw5 UTSW 1 57391499 missense probably damaging 1.00
R6422:Tyw5 UTSW 1 57401411 missense probably damaging 0.99
R6524:Tyw5 UTSW 1 57388731 missense possibly damaging 0.67
R7633:Tyw5 UTSW 1 57393485 missense probably benign 0.01
R7997:Tyw5 UTSW 1 57388524 missense probably benign 0.03
R9218:Tyw5 UTSW 1 57396789 missense probably damaging 0.97
X0018:Tyw5 UTSW 1 57390663 nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTCCACAGAACACAGGGTG -3'
(R):5'- TCAAGTAGAGAGGCCATGGC -3'

Sequencing Primer
(F):5'- ACCTGTGGAAAATGTCTCTGTAC -3'
(R):5'- AGAGGCCATGGCAATACTTATGTTG -3'
Posted On 2018-11-06