Incidental Mutation 'IGL02819:Nt5c3'
ID360916
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nt5c3
Ensembl Gene ENSMUSG00000029780
Gene Name5'-nucleotidase, cytosolic III
SynonymsUmph1, 2610206B05Rik, PN-1, p36, lupin, cN-III, 1600024P05Rik, PSN1, Umph-1, PN-I
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.202) question?
Stock #IGL02819
Quality Score
Status
Chromosome6
Chromosomal Location56882400-56923932 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 56883733 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 279 (M279K)
Ref Sequence ENSEMBL: ENSMUSP00000031793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031793] [ENSMUST00000031795] [ENSMUST00000101367] [ENSMUST00000135558] [ENSMUST00000152447]
PDB Structure
X-Ray Structure of a Cytosolic 5'-Nucleotidase III from Mus Musculus MM.158936 [X-RAY DIFFRACTION]
X-ray structure of mouse pyrimidine 5'-nucleotidase type 1, with bound magnesium(II) [X-RAY DIFFRACTION]
X-ray structure of mouse pyrimidine 5'-nucleotidase type 1, phospho-enzyme intermediate analog with Beryllium fluoride [X-RAY DIFFRACTION]
X-ray structure of mouse pyrimidine 5'-nucleotidase type 1, product-transition complex analog with Aluminum fluoride [X-RAY DIFFRACTION]
X-ray structure of mouse pyrimidine 5'-nucleotidase type 1, product complex [X-RAY DIFFRACTION]
X-ray structure of mouse pyrimidine 5'-nucleotidase type 1 with lead(II) bound in active site [X-RAY DIFFRACTION]
Ensemble refinement of the protein crystal structure of a cytosolic 5'-nucleotidase III from Mus musculus Mm.158936 [X-RAY DIFFRACTION]
Structure of murine cytosolic 5'-nucleotidase III complexed with uridinine monophosphate [X-RAY DIFFRACTION]
Structure of murine cytosolic 5'-nucleotidase III complexed with thymidine monophosphate [X-RAY DIFFRACTION]
Cytosolic 5'-nucleotidase III complexed with cytidine 5'-monophosphate [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000031793
AA Change: M279K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031793
Gene: ENSMUSG00000029780
AA Change: M279K

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:UMPH-1 86 331 5.6e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031795
SMART Domains Protein: ENSMUSP00000031795
Gene: ENSMUSG00000029781

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:FKBP_C 47 139 8.2e-31 PFAM
Pfam:FKBP_C 159 251 5.8e-28 PFAM
Pfam:FKBP_C 271 362 1.3e-27 PFAM
Pfam:FKBP_C 382 474 2.8e-27 PFAM
EFh 492 520 2.35e0 SMART
EFh 537 565 1.98e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000101367
AA Change: M245K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098918
Gene: ENSMUSG00000029780
AA Change: M245K

DomainStartEndE-ValueType
Pfam:UMPH-1 52 297 2.1e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126137
Predicted Effect probably benign
Transcript: ENSMUST00000135558
SMART Domains Protein: ENSMUSP00000145230
Gene: ENSMUSG00000029780

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152447
Predicted Effect probably benign
Transcript: ENSMUST00000205087
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 member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,564,220 probably benign Het
Abcb8 T A 5: 24,406,424 N470K probably benign Het
Adamtsl3 A T 7: 82,574,121 N1037Y probably damaging Het
Adcy3 T C 12: 4,206,986 probably benign Het
Ankrd35 A G 3: 96,690,208 D983G possibly damaging Het
Asf1a A G 10: 53,607,824 T118A probably benign Het
Atp2a3 T C 11: 72,977,207 Y389H probably damaging Het
Atp5b T C 10: 128,083,952 I63T probably damaging Het
C2cd5 A G 6: 143,083,220 Y98H probably benign Het
Caprin2 A G 6: 148,848,258 V518A probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Clcn2 C A 16: 20,709,256 E487* probably null Het
Cog6 T A 3: 53,009,545 K184M probably damaging Het
Cpn1 A G 19: 43,968,468 Y286H probably damaging Het
Cpne9 A T 6: 113,300,663 S448C probably damaging Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Cys1 T C 12: 24,667,170 E132G possibly damaging Het
Depdc7 T C 2: 104,724,726 M280V probably benign Het
Fhad1 C T 4: 141,918,758 D298N probably benign Het
Golga1 T A 2: 39,039,078 N318Y probably null Het
Hsd3b6 A G 3: 98,810,946 V34A probably benign Het
Krt9 A G 11: 100,191,520 I193T probably damaging Het
Lama4 A T 10: 39,026,569 I180F possibly damaging Het
Lamc1 T C 1: 153,250,661 T458A probably damaging Het
Lin28b A T 10: 45,470,059 M1K probably null Het
Myo16 T C 8: 10,322,600 C100R probably damaging Het
Ppfia2 A G 10: 106,906,394 Y1016C probably damaging Het
Rpl6 A G 5: 121,207,201 probably benign Het
Rpn2 G T 2: 157,316,210 probably null Het
Rspry1 T C 8: 94,654,256 V396A probably benign Het
Serpina3i C T 12: 104,268,502 T364I probably damaging Het
Shprh A G 10: 11,154,765 K242R possibly damaging Het
Slit3 A G 11: 35,171,590 N72S possibly damaging Het
Syt17 G A 7: 118,409,920 probably benign Het
Tatdn3 C A 1: 191,055,344 A114S probably benign Het
Tjp2 A G 19: 24,114,105 V564A probably damaging Het
Tmem117 T C 15: 94,879,372 probably benign Het
Tnfrsf8 T C 4: 145,269,133 E452G probably damaging Het
Tns1 T C 1: 73,937,248 D1147G probably damaging Het
Traf6 T C 2: 101,684,789 S97P probably damaging Het
Ttc28 A T 5: 111,266,583 E1321D probably benign Het
Other mutations in Nt5c3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:Nt5c3 APN 6 56886685 missense probably damaging 1.00
R0426:Nt5c3 UTSW 6 56883812 missense probably benign
R0523:Nt5c3 UTSW 6 56883681 missense probably damaging 1.00
R0791:Nt5c3 UTSW 6 56886749 missense probably benign 0.02
R0792:Nt5c3 UTSW 6 56886749 missense probably benign 0.02
R1340:Nt5c3 UTSW 6 56883033 missense probably benign 0.02
R3703:Nt5c3 UTSW 6 56883667 unclassified probably benign
R5942:Nt5c3 UTSW 6 56897854 intron probably null
R6047:Nt5c3 UTSW 6 56882979 missense probably damaging 0.99
R6894:Nt5c3 UTSW 6 56882973 nonsense probably null
Posted On2015-12-18