Incidental Mutation 'IGL00966:Dus2'
ID 28069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dus2
Ensembl Gene ENSMUSG00000031901
Gene Name dihydrouridine synthase 2
Synonyms Dus2l, 2310016K04Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # IGL00966
Quality Score
Status
Chromosome 8
Chromosomal Location 106738110-106780472 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 106752533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000034375
SMART Domains Protein: ENSMUSP00000034375
Gene: ENSMUSG00000031901

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: ENSMUST00000141374
Coding Region Coverage
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,003,855 (GRCm39) E649G probably damaging Het
Adgre1 C A 17: 57,726,335 (GRCm39) T402K probably benign Het
Agap3 A G 5: 24,706,000 (GRCm39) probably benign Het
Amy1 T C 3: 113,349,689 (GRCm39) I494V probably benign Het
Arhgef40 G A 14: 52,229,155 (GRCm39) probably null Het
Atp2c2 T C 8: 120,472,329 (GRCm39) V461A probably benign Het
Bub1 A G 2: 127,652,583 (GRCm39) S595P probably damaging Het
Cdcp3 T A 7: 130,844,836 (GRCm39) Y692* probably null Het
Cmya5 C T 13: 93,234,414 (GRCm39) V225I probably benign Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cux1 A T 5: 136,340,345 (GRCm39) probably benign Het
Dsg3 T A 18: 20,656,664 (GRCm39) I178N probably benign Het
Enpp1 G A 10: 24,529,929 (GRCm39) H570Y probably damaging Het
Ephb3 A C 16: 21,036,044 (GRCm39) T57P probably benign Het
Fat3 C A 9: 15,910,390 (GRCm39) V1871F possibly damaging Het
Fbll1 T C 11: 35,688,874 (GRCm39) T130A probably benign Het
Fbxl20 C T 11: 98,001,800 (GRCm39) S99N probably damaging Het
Folr2 T C 7: 101,489,593 (GRCm39) E182G probably damaging Het
Fras1 A G 5: 96,703,080 (GRCm39) D281G probably benign Het
Gm17175 G T 14: 51,810,526 (GRCm39) Q34K possibly damaging Het
Gm5592 T A 7: 40,938,519 (GRCm39) D600E probably damaging Het
Gtf2e1 T C 16: 37,336,092 (GRCm39) E294G probably benign Het
Gtf3c2 A G 5: 31,327,517 (GRCm39) probably benign Het
Heg1 T C 16: 33,530,977 (GRCm39) L151P probably damaging Het
Hmcn2 T G 2: 31,319,006 (GRCm39) V3902G probably damaging Het
Ift140 A G 17: 25,237,776 (GRCm39) Y4C probably damaging Het
Ighv1-19 A C 12: 114,672,569 (GRCm39) V17G possibly damaging Het
Iqca1 T A 1: 89,973,379 (GRCm39) I770F probably benign Het
Jak3 T A 8: 72,131,656 (GRCm39) C115S probably benign Het
Kif18b A T 11: 102,805,501 (GRCm39) M252K probably damaging Het
Klhdc7a A T 4: 139,694,236 (GRCm39) V237D probably benign Het
Klhl11 C T 11: 100,354,031 (GRCm39) V597I possibly damaging Het
Krt72 T A 15: 101,689,396 (GRCm39) Y312F probably damaging Het
Lonp2 T A 8: 87,360,600 (GRCm39) I191N probably damaging Het
Npc2 A T 12: 84,819,619 (GRCm39) I8N possibly damaging Het
Nr4a1 T C 15: 101,170,669 (GRCm39) L413P probably damaging Het
Nup133 T C 8: 124,638,645 (GRCm39) N895S probably damaging Het
Or7e175 T C 9: 20,048,531 (GRCm39) F40L probably benign Het
Ppef1 A G X: 159,468,290 (GRCm39) I94T probably benign Het
Prrt4 G A 6: 29,176,455 (GRCm39) T290I probably benign Het
Ptpru A T 4: 131,499,927 (GRCm39) V1239E probably damaging Het
Rab8b T G 9: 66,760,274 (GRCm39) M117L probably benign Het
S1pr5 T A 9: 21,155,512 (GRCm39) I305F possibly damaging Het
Sdr39u1 A G 14: 56,135,463 (GRCm39) V160A probably damaging Het
Slc6a21 C T 7: 44,937,668 (GRCm39) T653M probably benign Het
Stk39 T A 2: 68,042,302 (GRCm39) E544D probably benign Het
Tgfbr3 T C 5: 107,290,367 (GRCm39) T313A probably benign Het
Tle6 A T 10: 81,430,292 (GRCm39) L287M probably damaging Het
Tmc2 A G 2: 130,105,932 (GRCm39) H821R probably benign Het
Tmem230 G T 2: 132,087,897 (GRCm39) D26E probably benign Het
Tnfaip3 A G 10: 18,880,885 (GRCm39) F394S probably damaging Het
Ttn T A 2: 76,641,721 (GRCm39) L13458F probably damaging Het
Vwa5a A T 9: 38,634,675 (GRCm39) N161I probably benign Het
Wdr87-ps C A 7: 29,236,888 (GRCm39) noncoding transcript Het
Other mutations in Dus2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1109:Dus2 UTSW 8 106,780,114 (GRCm39) missense probably benign 0.16
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
Posted On 2013-04-17