Incidental Mutation 'R1109:Dus2'
ID 98652
Institutional Source Beutler Lab
Gene Symbol Dus2
Ensembl Gene ENSMUSG00000031901
Gene Name dihydrouridine synthase 2
Synonyms Dus2l, 2310016K04Rik
MMRRC Submission 039182-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R1109 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106738110-106780472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106780114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 479 (F479I)
Ref Sequence ENSEMBL: ENSMUSP00000034375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034375] [ENSMUST00000119736]
AlphaFold Q9D7B1
PDB Structure Solution structure of the dsRBD from hypothetical protein BAB26260 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000034375
AA Change: F479I

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000034375
Gene: ENSMUSG00000031901
AA Change: F479I

DomainStartEndE-ValueType
Pfam:Dus 15 344 1.8e-54 PFAM
DSRM 370 435 1.03e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119736
SMART Domains Protein: ENSMUSP00000113781
Gene: ENSMUSG00000031901

DomainStartEndE-ValueType
Pfam:Dus 1 233 8.1e-38 PFAM
DSRM 257 322 1.03e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144904
Meta Mutation Damage Score 0.0610 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.9%
Validation Efficiency 100% (80/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein that catalyzes the conversion of uridine residues to dihydrouridine in the D-loop of tRNA. The resulting modified bases confer enhanced regional flexibility to tRNA. The encoded protein may increase the rate of translation by inhibiting an interferon-induced protein kinase. This gene has been implicated in pulmonary carcinogenesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 T G 3: 121,573,245 (GRCm39) E262D probably damaging Het
Abcg1 G A 17: 31,330,210 (GRCm39) A504T probably benign Het
Acot11 T C 4: 106,606,545 (GRCm39) T515A probably benign Het
Alg8 A T 7: 97,032,891 (GRCm39) probably null Het
Arhgap44 T A 11: 64,917,642 (GRCm39) H375L probably benign Het
Aspm A T 1: 139,384,496 (GRCm39) I98F probably damaging Het
Atp8b5 T C 4: 43,305,719 (GRCm39) probably benign Het
Coa3 T C 11: 101,169,611 (GRCm39) K48R probably damaging Het
Col12a1 A G 9: 79,607,005 (GRCm39) S473P probably damaging Het
Dnmt1 A T 9: 20,833,684 (GRCm39) Y451N probably damaging Het
Dock5 A G 14: 68,043,927 (GRCm39) Y819H possibly damaging Het
Dtx1 G A 5: 120,848,484 (GRCm39) probably benign Het
Elp1 T C 4: 56,786,723 (GRCm39) T407A probably benign Het
Esrp1 T C 4: 11,365,205 (GRCm39) E262G probably damaging Het
Exoc4 A G 6: 33,418,951 (GRCm39) Y466C probably damaging Het
Fasn A G 11: 120,703,150 (GRCm39) F1625S possibly damaging Het
Fbxw25 A T 9: 109,479,128 (GRCm39) H374Q probably benign Het
Focad T C 4: 88,114,984 (GRCm39) probably benign Het
Gad2 G T 2: 22,571,406 (GRCm39) R448L probably damaging Het
Gad2 G A 2: 22,580,171 (GRCm39) probably benign Het
Galnt16 G T 12: 80,637,405 (GRCm39) E377D probably benign Het
Gcc1 A C 6: 28,419,166 (GRCm39) L389R probably damaging Het
Ggct A T 6: 54,966,554 (GRCm39) probably benign Het
Gm7052 G A 17: 22,259,133 (GRCm39) probably benign Het
Gps2 T A 11: 69,806,507 (GRCm39) H177Q possibly damaging Het
Heg1 T A 16: 33,583,961 (GRCm39) L1256Q probably damaging Het
Il36a G A 2: 24,106,602 (GRCm39) G62E probably damaging Het
Il3ra C T 14: 14,349,317 (GRCm38) R138W probably damaging Het
Itprid1 G T 6: 55,945,245 (GRCm39) K655N probably damaging Het
Kdm4b T A 17: 56,706,430 (GRCm39) I848N probably damaging Het
L3hypdh A G 12: 72,120,770 (GRCm39) V327A possibly damaging Het
Lepr G T 4: 101,628,552 (GRCm39) L552F probably damaging Het
Lpin3 T C 2: 160,740,941 (GRCm39) I449T probably damaging Het
Lrrn1 A G 6: 107,544,225 (GRCm39) K8E probably benign Het
Mex3a G T 3: 88,443,967 (GRCm39) D348Y possibly damaging Het
Mindy2 G A 9: 70,538,361 (GRCm39) R325* probably null Het
Mkrn1 A T 6: 39,376,268 (GRCm39) M382K probably damaging Het
Mroh1 G T 15: 76,330,709 (GRCm39) probably benign Het
Myo15a T A 11: 60,383,892 (GRCm39) D1646E probably damaging Het
Neu2 A G 1: 87,524,450 (GRCm39) D145G probably damaging Het
Obi1 A T 14: 104,717,200 (GRCm39) L391* probably null Het
Or10ah1-ps1 A T 5: 143,123,374 (GRCm39) N216K probably benign Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2w3b T C 11: 58,623,742 (GRCm39) Y83C probably benign Het
Plekhm2 T A 4: 141,355,295 (GRCm39) I938F probably benign Het
Pnma8a A T 7: 16,695,392 (GRCm39) K416* probably null Het
Ppid T C 3: 79,506,168 (GRCm39) S198P probably benign Het
Rabl6 G T 2: 25,477,538 (GRCm39) P304Q probably damaging Het
Rasal2 A T 1: 157,005,208 (GRCm39) probably benign Het
Ripor1 G T 8: 106,345,560 (GRCm39) probably benign Het
Rnf216 A T 5: 143,054,124 (GRCm39) L658Q probably damaging Het
Safb T A 17: 56,908,228 (GRCm39) probably benign Het
Sf3b5 T C 10: 12,884,497 (GRCm39) M44T probably benign Het
Slc26a9 A T 1: 131,686,536 (GRCm39) M419L probably benign Het
Slc38a8 T C 8: 120,209,394 (GRCm39) D393G probably benign Het
Slc6a3 A G 13: 73,705,199 (GRCm39) D230G probably benign Het
Smc1b T C 15: 84,997,016 (GRCm39) T535A probably damaging Het
Smg7 G C 1: 152,721,334 (GRCm39) P626R probably damaging Het
Smu1 C T 4: 40,755,722 (GRCm39) V48M probably benign Het
Spag17 T C 3: 99,934,667 (GRCm39) Y650H possibly damaging Het
Spata1 C T 3: 146,181,053 (GRCm39) V302I possibly damaging Het
Sptb G A 12: 76,650,377 (GRCm39) A1780V probably damaging Het
Srrm2 G A 17: 24,038,591 (GRCm39) probably benign Het
Sspo A C 6: 48,474,377 (GRCm39) N4933H probably damaging Het
Sult2a2 T C 7: 13,468,798 (GRCm39) I88T probably benign Het
Tgfa G T 6: 86,247,072 (GRCm39) probably benign Het
Thsd1 T A 8: 22,733,708 (GRCm39) C252S possibly damaging Het
Tmem102 T A 11: 69,695,630 (GRCm39) H114L probably damaging Het
Tnni3k T A 3: 154,498,414 (GRCm39) K808N possibly damaging Het
Trpm7 G T 2: 126,639,713 (GRCm39) L1628M probably benign Het
Ttn A G 2: 76,561,081 (GRCm39) Y29107H probably damaging Het
Upb1 T C 10: 75,273,999 (GRCm39) L342P probably damaging Het
Vmn2r120 T C 17: 57,832,829 (GRCm39) T117A probably benign Het
Vmn2r16 A G 5: 109,487,652 (GRCm39) D175G probably damaging Het
Vps35l A T 7: 118,374,552 (GRCm39) I351F probably damaging Het
Zfhx4 T G 3: 5,464,930 (GRCm39) M1696R possibly damaging Het
Zfp746 A G 6: 48,041,856 (GRCm39) V289A possibly damaging Het
Zfyve26 A C 12: 79,318,901 (GRCm39) F1146V probably damaging Het
Other mutations in Dus2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Dus2 APN 8 106,752,533 (GRCm39) splice site probably null
IGL03000:Dus2 APN 8 106,775,316 (GRCm39) missense probably damaging 1.00
IGL03265:Dus2 APN 8 106,760,423 (GRCm39) splice site probably benign
R0400:Dus2 UTSW 8 106,775,309 (GRCm39) missense probably benign 0.08
R0733:Dus2 UTSW 8 106,772,702 (GRCm39) critical splice donor site probably null
R1190:Dus2 UTSW 8 106,771,497 (GRCm39) missense possibly damaging 0.67
R1296:Dus2 UTSW 8 106,779,675 (GRCm39) missense possibly damaging 0.86
R1819:Dus2 UTSW 8 106,778,480 (GRCm39) missense probably damaging 1.00
R2038:Dus2 UTSW 8 106,775,294 (GRCm39) missense probably damaging 0.99
R4282:Dus2 UTSW 8 106,775,286 (GRCm39) missense probably benign 0.17
R4621:Dus2 UTSW 8 106,757,074 (GRCm39) missense probably damaging 0.98
R4903:Dus2 UTSW 8 106,771,437 (GRCm39) missense probably benign 0.00
R5922:Dus2 UTSW 8 106,780,037 (GRCm39) missense possibly damaging 0.85
R5997:Dus2 UTSW 8 106,772,698 (GRCm39) missense probably benign 0.14
R7235:Dus2 UTSW 8 106,742,587 (GRCm39) missense possibly damaging 0.83
R7387:Dus2 UTSW 8 106,772,619 (GRCm39) missense probably damaging 1.00
R7974:Dus2 UTSW 8 106,762,652 (GRCm39) missense probably benign
R8088:Dus2 UTSW 8 106,757,073 (GRCm39) missense probably benign 0.00
R8343:Dus2 UTSW 8 106,722,645 (GRCm39) utr 3 prime probably benign
R9086:Dus2 UTSW 8 106,742,573 (GRCm39) nonsense probably null
R9113:Dus2 UTSW 8 106,775,333 (GRCm39) nonsense probably null
R9383:Dus2 UTSW 8 106,776,950 (GRCm39) missense probably benign 0.02
R9480:Dus2 UTSW 8 106,757,052 (GRCm39) nonsense probably null
R9569:Dus2 UTSW 8 106,771,507 (GRCm39) missense probably damaging 0.99
R9766:Dus2 UTSW 8 106,772,568 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCCAGTGATGACCCATCTTAGCAG -3'
(R):5'- TGCATGTCAACGGCCAGCAAAC -3'

Sequencing Primer
(F):5'- TGCTTCATTTACCCAGGGACAAG -3'
(R):5'- AACTGTCCAAGGGCACCTG -3'
Posted On 2014-01-05