Incidental Mutation 'IGL01338:Dus1l'
ID74693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dus1l
Ensembl Gene ENSMUSG00000025155
Gene Namedihydrouridine synthase 1-like (S. cerevisiae)
Synonyms1110032N12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #IGL01338
Quality Score
Status
Chromosome11
Chromosomal Location120789201-120796403 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 120793092 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 177 (R177C)
Ref Sequence ENSEMBL: ENSMUSP00000132516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026151] [ENSMUST00000100134] [ENSMUST00000106133] [ENSMUST00000106135] [ENSMUST00000116305] [ENSMUST00000129955] [ENSMUST00000143139] [ENSMUST00000153678] [ENSMUST00000167023] [ENSMUST00000172809] [ENSMUST00000208737]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026151
AA Change: R177C

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026151
Gene: ENSMUSG00000025155
AA Change: R177C

DomainStartEndE-ValueType
Pfam:Dus 20 314 5.5e-76 PFAM
low complexity region 367 378 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100134
SMART Domains Protein: ENSMUSP00000097711
Gene: ENSMUSG00000025156

DomainStartEndE-ValueType
Pfam:RPN7 123 305 4.9e-78 PFAM
PINT 356 439 5.77e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106133
AA Change: R177C

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101739
Gene: ENSMUSG00000025155
AA Change: R177C

DomainStartEndE-ValueType
Pfam:Dus 20 314 8.5e-76 PFAM
low complexity region 367 378 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106135
AA Change: R177C

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101741
Gene: ENSMUSG00000025155
AA Change: R177C

DomainStartEndE-ValueType
Pfam:Dus 20 314 8.5e-76 PFAM
low complexity region 367 378 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116305
SMART Domains Protein: ENSMUSP00000112007
Gene: ENSMUSG00000025156

DomainStartEndE-ValueType
Pfam:RPN7 123 305 1.3e-77 PFAM
PINT 356 439 5.77e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125156
Predicted Effect probably benign
Transcript: ENSMUST00000129955
SMART Domains Protein: ENSMUSP00000116619
Gene: ENSMUSG00000025155

DomainStartEndE-ValueType
Pfam:Dus 20 166 5.8e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142418
Predicted Effect possibly damaging
Transcript: ENSMUST00000143139
AA Change: R166C

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118773
Gene: ENSMUSG00000025155
AA Change: R166C

DomainStartEndE-ValueType
Pfam:Dus 20 194 1.6e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146008
Predicted Effect probably benign
Transcript: ENSMUST00000153678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156723
Predicted Effect possibly damaging
Transcript: ENSMUST00000167023
AA Change: R177C

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132516
Gene: ENSMUSG00000025155
AA Change: R177C

DomainStartEndE-ValueType
Pfam:Dus 20 322 1.6e-75 PFAM
low complexity region 360 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172809
SMART Domains Protein: ENSMUSP00000133855
Gene: ENSMUSG00000025156

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
low complexity region 37 49 N/A INTRINSIC
Pfam:RPN7 162 344 8.8e-77 PFAM
PINT 395 478 5.77e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208737
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik T C 16: 90,926,048 N266S possibly damaging Het
Adam23 A G 1: 63,551,855 T494A possibly damaging Het
Adamts16 C T 13: 70,836,115 C143Y probably damaging Het
Cacna1i A G 15: 80,348,380 I195V probably damaging Het
Casp7 T C 19: 56,404,464 S17P probably benign Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpvl T A 6: 53,974,655 S48C possibly damaging Het
Cyp2b19 G T 7: 26,759,417 M138I probably benign Het
Dennd5a T C 7: 109,919,404 Y510C possibly damaging Het
Derl2 A G 11: 71,010,355 F229S possibly damaging Het
Dlec1 A G 9: 119,120,911 E452G probably damaging Het
Dsc2 T C 18: 20,047,157 K180E probably benign Het
Egfr A G 11: 16,863,020 I167V probably damaging Het
Fam219b A T 9: 57,538,022 probably null Het
Fn1 T C 1: 71,626,210 E916G probably damaging Het
Gm2058 C T 7: 39,589,156 noncoding transcript Het
Gpd1 T A 15: 99,718,175 V22E probably damaging Het
Hsf2 T C 10: 57,501,379 F124L probably damaging Het
I0C0044D17Rik A G 4: 98,820,099 probably benign Het
Igfbp3 A T 11: 7,208,478 F262I possibly damaging Het
Klhl18 A G 9: 110,455,433 Y62H probably damaging Het
Lama2 C T 10: 27,188,272 E1238K probably benign Het
Man1b1 A G 2: 25,338,227 K170E probably benign Het
Mcrs1 A T 15: 99,249,501 I39N probably damaging Het
Mug2 T C 6: 122,049,628 probably benign Het
Neu3 C A 7: 99,813,422 G365W probably damaging Het
Nipal3 A C 4: 135,471,883 probably null Het
Nrxn3 A G 12: 89,255,034 I528V possibly damaging Het
Olfr122 A T 17: 37,771,839 H71L possibly damaging Het
Osbpl8 A G 10: 111,267,747 K204R probably damaging Het
Pax8 A G 2: 24,435,919 S318P possibly damaging Het
Pcdh18 T A 3: 49,756,141 N242Y probably damaging Het
Pkd1l2 T A 8: 117,059,520 K649* probably null Het
Ppm1n A T 7: 19,279,254 D257E probably benign Het
Pxdn A G 12: 30,002,797 E811G probably damaging Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rreb1 T C 13: 37,931,034 C790R probably benign Het
Rtkn2 G T 10: 68,025,519 C258F possibly damaging Het
Scn11a G A 9: 119,784,161 probably benign Het
Snx8 G A 5: 140,358,096 R96C probably damaging Het
Syne2 A T 12: 76,060,226 T5649S possibly damaging Het
Tm2d3 T A 7: 65,695,222 C82* probably null Het
Tnpo2 T C 8: 85,040,526 L55P probably damaging Het
Tsc22d2 T C 3: 58,417,415 probably benign Het
Ttll3 T G 6: 113,394,729 V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 I86V probably benign Het
Vps13d G A 4: 145,088,322 T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 I753T probably damaging Het
Other mutations in Dus1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Dus1l APN 11 120793875 missense probably damaging 1.00
IGL01538:Dus1l APN 11 120793079 missense probably damaging 0.98
IGL03220:Dus1l APN 11 120792359 missense probably damaging 1.00
R0076:Dus1l UTSW 11 120792808 unclassified probably benign
R0076:Dus1l UTSW 11 120792808 unclassified probably benign
R0893:Dus1l UTSW 11 120789436 missense possibly damaging 0.92
R1763:Dus1l UTSW 11 120795671 missense probably benign 0.00
R3149:Dus1l UTSW 11 120793104 missense possibly damaging 0.93
R4175:Dus1l UTSW 11 120795680 missense possibly damaging 0.94
R4753:Dus1l UTSW 11 120792075 missense probably benign 0.21
R4816:Dus1l UTSW 11 120789758 unclassified probably benign
R7056:Dus1l UTSW 11 120791294 missense probably benign 0.35
Posted On2013-10-07