Incidental Mutation 'IGL03000:Dus2'
ID407276
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dus2
Ensembl Gene ENSMUSG00000031901
Gene Namedihydrouridine synthase 2
Synonyms2310016K04Rik, Dus2l
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.510) question?
Stock #IGL03000
Quality Score
Status
Chromosome8
Chromosomal Location105991337-106053840 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 106048684 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 281 (T281N)
Ref Sequence ENSEMBL: ENSMUSP00000034375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034375] [ENSMUST00000119736]
PDB Structure
Solution structure of the dsRBD from hypothetical protein BAB26260 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000034375
AA Change: T281N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034375
Gene: ENSMUSG00000031901
AA Change: T281N

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: ENSMUST00000138524
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144904
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,321,800 S445G probably benign Het
Abca5 C T 11: 110,317,814 V226I probably benign Het
Ankrd34c A T 9: 89,729,186 D367E probably benign Het
Bmp6 G T 13: 38,498,911 probably benign Het
Cacna2d2 T C 9: 107,524,198 probably null Het
Cblb T G 16: 52,204,542 D933E probably damaging Het
Ccny A G 18: 9,353,489 S95P probably benign Het
Cep192 A G 18: 67,852,044 I1658V probably damaging Het
Cntn6 A T 6: 104,804,386 T478S probably damaging Het
Cpne7 T C 8: 123,126,696 F247L probably benign Het
Csf1r A G 18: 61,109,652 E29G probably damaging Het
Dctn3 T A 4: 41,719,912 I65F possibly damaging Het
Dock1 A G 7: 134,789,240 E743G probably benign Het
Gbx1 G T 5: 24,504,926 T307K probably benign Het
Gtf2ird2 A T 5: 134,194,906 N93I probably benign Het
Heatr1 A G 13: 12,434,411 D1930G probably damaging Het
Hif3a T C 7: 17,048,639 I334V probably benign Het
Ints1 G T 5: 139,766,506 N756K probably benign Het
Kcnn2 T C 18: 45,560,568 F404L probably damaging Het
Kmt2c G A 5: 25,284,172 R4590W probably damaging Het
Limk1 A T 5: 134,670,501 V134E probably damaging Het
Mep1a A G 17: 43,474,990 V736A probably benign Het
Mex3a T A 3: 88,536,295 I226N probably damaging Het
Mgl2 A T 11: 70,134,200 K16* probably null Het
Mms22l G T 4: 24,581,161 V864L probably damaging Het
Mroh4 T A 15: 74,616,114 M320L probably benign Het
Mylk3 G A 8: 85,359,177 P243S probably damaging Het
Nbea A C 3: 56,004,627 D1246E possibly damaging Het
Ndnf A G 6: 65,703,315 T193A possibly damaging Het
Nfasc T C 1: 132,621,509 probably benign Het
Olfr421-ps1 A G 1: 174,151,560 T15A probably benign Het
Ptprq A T 10: 107,542,657 F2008I probably damaging Het
Rhag A G 17: 40,828,522 K116R probably benign Het
Rictor T A 15: 6,769,240 probably benign Het
Slc35f5 C A 1: 125,574,742 T277N probably damaging Het
Sorcs2 A G 5: 36,065,331 probably benign Het
Ssh2 T A 11: 77,421,206 probably benign Het
Togaram2 T C 17: 71,717,370 S830P probably benign Het
Trim30d T C 7: 104,473,269 T112A probably benign Het
Ttc34 T C 4: 154,865,431 V947A probably damaging Het
Ttn A G 2: 76,812,609 probably benign Het
Ubr5 A T 15: 38,024,852 V560D probably damaging Het
Ush2a A T 1: 188,549,856 E1856V possibly damaging Het
Zfp142 T C 1: 74,573,618 M457V probably benign Het
Zfp711 C T X: 112,624,858 Q137* probably null Het
Zkscan17 T C 11: 59,487,160 Y399C probably damaging Het
Zswim6 T G 13: 107,727,114 noncoding transcript Het
Zswim6 T A 13: 107,727,115 noncoding transcript Het
Other mutations in Dus2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Dus2 APN 8 106025901 splice site probably null
IGL03265:Dus2 APN 8 106033791 splice site probably benign
R0400:Dus2 UTSW 8 106048677 missense probably benign 0.08
R0733:Dus2 UTSW 8 106046070 critical splice donor site probably null
R1109:Dus2 UTSW 8 106053482 missense probably benign 0.16
R1190:Dus2 UTSW 8 106044865 missense possibly damaging 0.67
R1296:Dus2 UTSW 8 106053043 missense possibly damaging 0.86
R1819:Dus2 UTSW 8 106051848 missense probably damaging 1.00
R2038:Dus2 UTSW 8 106048662 missense probably damaging 0.99
R4282:Dus2 UTSW 8 106048654 missense probably benign 0.17
R4621:Dus2 UTSW 8 106030442 missense probably damaging 0.98
R4903:Dus2 UTSW 8 106044805 missense probably benign 0.00
R5922:Dus2 UTSW 8 106053405 missense possibly damaging 0.85
R5997:Dus2 UTSW 8 106046066 missense probably benign 0.14
R7235:Dus2 UTSW 8 106015955 missense possibly damaging 0.83
R7387:Dus2 UTSW 8 106045987 missense probably damaging 1.00
R8088:Dus2 UTSW 8 106030441 missense probably benign 0.00
Posted On2016-08-02