Incidental Mutation 'IGL01338:Dus1l'
ID 74693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dus1l
Ensembl Gene ENSMUSG00000025155
Gene Name dihydrouridine synthase 1 like
Synonyms 1110032N12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # IGL01338
Quality Score
Status
Chromosome 11
Chromosomal Location 120680027-120687229 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120683918 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000167023] [ENSMUST00000143139] [ENSMUST00000208737] [ENSMUST00000129955] [ENSMUST00000153678] [ENSMUST00000172809]
AlphaFold Q8C2P3
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 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 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: ENSMUST00000156723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146008
Predicted Effect probably benign
Transcript: ENSMUST00000208737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142418
Predicted Effect probably benign
Transcript: ENSMUST00000129955
SMART Domains Protein: ENSMUSP00000116619
Gene: ENSMUSG00000025155

DomainStartEndE-ValueType
Pfam:Dus 20 166 5.8e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153678
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 A G 1: 63,591,014 (GRCm39) T494A possibly damaging Het
Adamts16 C T 13: 70,984,234 (GRCm39) C143Y probably damaging Het
Cacna1i A G 15: 80,232,581 (GRCm39) I195V probably damaging Het
Casp7 T C 19: 56,392,896 (GRCm39) S17P probably benign Het
Cfap298 T C 16: 90,722,936 (GRCm39) N266S possibly damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cpvl T A 6: 53,951,640 (GRCm39) S48C possibly damaging Het
Cyp2b19 G T 7: 26,458,842 (GRCm39) M138I probably benign Het
Dennd5a T C 7: 109,518,611 (GRCm39) Y510C possibly damaging Het
Derl2 A G 11: 70,901,181 (GRCm39) F229S possibly damaging Het
Dlec1 A G 9: 118,949,979 (GRCm39) E452G probably damaging Het
Dsc2 T C 18: 20,180,214 (GRCm39) K180E probably benign Het
Egfr A G 11: 16,813,020 (GRCm39) I167V probably damaging Het
Fam219b A T 9: 57,445,305 (GRCm39) probably null Het
Fn1 T C 1: 71,665,369 (GRCm39) E916G probably damaging Het
Gm2058 C T 7: 39,238,580 (GRCm39) noncoding transcript Het
Gpd1 T A 15: 99,616,056 (GRCm39) V22E probably damaging Het
Hsf2 T C 10: 57,377,475 (GRCm39) F124L probably damaging Het
I0C0044D17Rik A G 4: 98,708,336 (GRCm39) probably benign Het
Igfbp3 A T 11: 7,158,478 (GRCm39) F262I possibly damaging Het
Klhl18 A G 9: 110,284,501 (GRCm39) Y62H probably damaging Het
Lama2 C T 10: 27,064,268 (GRCm39) E1238K probably benign Het
Man1b1 A G 2: 25,228,239 (GRCm39) K170E probably benign Het
Mcrs1 A T 15: 99,147,382 (GRCm39) I39N probably damaging Het
Mug2 T C 6: 122,026,587 (GRCm39) probably benign Het
Neu3 C A 7: 99,462,629 (GRCm39) G365W probably damaging Het
Nipal3 A C 4: 135,199,194 (GRCm39) probably null Het
Nrxn3 A G 12: 89,221,804 (GRCm39) I528V possibly damaging Het
Or10al6 A T 17: 38,082,730 (GRCm39) H71L possibly damaging Het
Osbpl8 A G 10: 111,103,608 (GRCm39) K204R probably damaging Het
Pax8 A G 2: 24,325,931 (GRCm39) S318P possibly damaging Het
Pcdh18 T A 3: 49,710,590 (GRCm39) N242Y probably damaging Het
Pkd1l2 T A 8: 117,786,259 (GRCm39) K649* probably null Het
Ppm1n A T 7: 19,013,179 (GRCm39) D257E probably benign Het
Pxdn A G 12: 30,052,796 (GRCm39) E811G probably damaging Het
Relb T C 7: 19,350,298 (GRCm39) I218V probably benign Het
Rreb1 T C 13: 38,115,010 (GRCm39) C790R probably damaging Het
Rtkn2 G T 10: 67,861,349 (GRCm39) C258F possibly damaging Het
Scn11a G A 9: 119,613,227 (GRCm39) probably benign Het
Snx8 G A 5: 140,343,851 (GRCm39) R96C probably damaging Het
Syne2 A T 12: 76,107,000 (GRCm39) T5649S possibly damaging Het
Tm2d3 T A 7: 65,344,970 (GRCm39) C82* probably null Het
Tnpo2 T C 8: 85,767,155 (GRCm39) L55P probably damaging Het
Tsc22d2 T C 3: 58,324,836 (GRCm39) probably benign Het
Ttll3 T G 6: 113,371,690 (GRCm39) V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 (GRCm39) I86V probably benign Het
Vps13d G A 4: 144,814,892 (GRCm39) T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 (GRCm39) I753T probably damaging Het
Other mutations in Dus1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Dus1l APN 11 120,684,701 (GRCm39) missense probably damaging 1.00
IGL01538:Dus1l APN 11 120,683,905 (GRCm39) missense probably damaging 0.98
IGL03220:Dus1l APN 11 120,683,185 (GRCm39) missense probably damaging 1.00
R0076:Dus1l UTSW 11 120,683,634 (GRCm39) unclassified probably benign
R0076:Dus1l UTSW 11 120,683,634 (GRCm39) unclassified probably benign
R0893:Dus1l UTSW 11 120,680,262 (GRCm39) missense possibly damaging 0.92
R1763:Dus1l UTSW 11 120,686,497 (GRCm39) missense probably benign 0.00
R3149:Dus1l UTSW 11 120,683,930 (GRCm39) missense possibly damaging 0.93
R4175:Dus1l UTSW 11 120,686,506 (GRCm39) missense possibly damaging 0.94
R4753:Dus1l UTSW 11 120,682,901 (GRCm39) missense probably benign 0.21
R4816:Dus1l UTSW 11 120,680,584 (GRCm39) unclassified probably benign
R7056:Dus1l UTSW 11 120,682,120 (GRCm39) missense probably benign 0.35
R7808:Dus1l UTSW 11 120,680,262 (GRCm39) missense possibly damaging 0.92
R9323:Dus1l UTSW 11 120,684,724 (GRCm39) missense probably damaging 1.00
R9777:Dus1l UTSW 11 120,683,858 (GRCm39) missense possibly damaging 0.51
Posted On 2013-10-07