Incidental Mutation 'IGL02819:Nt5c3'
ID 360916
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nt5c3
Ensembl Gene ENSMUSG00000029780
Gene Name 5'-nucleotidase, cytosolic III
Synonyms lupin, cN-III, Umph-1, p36, 1600024P05Rik, PN-1, 2610206B05Rik, Umph1, PN-I, PSN1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # IGL02819
Quality Score
Chromosome 6
Chromosomal Location 56859385-56900917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56860718 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D020
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

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

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

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

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: 54,712,033 (GRCm39) probably benign Het
Abcb8 T A 5: 24,611,422 (GRCm39) N470K probably benign Het
Adamtsl3 A T 7: 82,223,329 (GRCm39) N1037Y probably damaging Het
Adcy3 T C 12: 4,256,986 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,597,524 (GRCm39) D983G possibly damaging Het
Asf1a A G 10: 53,483,920 (GRCm39) T118A probably benign Het
Atp2a3 T C 11: 72,868,033 (GRCm39) Y389H probably damaging Het
Atp5f1b T C 10: 127,919,821 (GRCm39) I63T probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Caprin2 A G 6: 148,749,756 (GRCm39) V518A probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clcn2 C A 16: 20,528,006 (GRCm39) E487* probably null Het
Cog6 T A 3: 52,916,966 (GRCm39) K184M probably damaging Het
Cpn1 A G 19: 43,956,907 (GRCm39) Y286H probably damaging Het
Cpne9 A T 6: 113,277,624 (GRCm39) S448C probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Cys1 T C 12: 24,717,169 (GRCm39) E132G possibly damaging Het
Depdc7 T C 2: 104,555,071 (GRCm39) M280V probably benign Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Golga1 T A 2: 38,929,090 (GRCm39) N318Y probably null Het
Hsd3b6 A G 3: 98,718,262 (GRCm39) V34A probably benign Het
Krt9 A G 11: 100,082,346 (GRCm39) I193T probably damaging Het
Lama4 A T 10: 38,902,565 (GRCm39) I180F possibly damaging Het
Lamc1 T C 1: 153,126,407 (GRCm39) T458A probably damaging Het
Lin28b A T 10: 45,346,155 (GRCm39) M1K probably null Het
Myo16 T C 8: 10,372,600 (GRCm39) C100R probably damaging Het
Ppfia2 A G 10: 106,742,255 (GRCm39) Y1016C probably damaging Het
Rpl6 A G 5: 121,345,264 (GRCm39) probably benign Het
Rpn2 G T 2: 157,158,130 (GRCm39) probably null Het
Rspry1 T C 8: 95,380,884 (GRCm39) V396A probably benign Het
Serpina3i C T 12: 104,234,761 (GRCm39) T364I probably damaging Het
Shprh A G 10: 11,030,509 (GRCm39) K242R possibly damaging Het
Slit3 A G 11: 35,062,417 (GRCm39) N72S possibly damaging Het
Syt17 G A 7: 118,009,143 (GRCm39) probably benign Het
Tatdn3 C A 1: 190,787,541 (GRCm39) A114S probably benign Het
Tjp2 A G 19: 24,091,469 (GRCm39) V564A probably damaging Het
Tmem117 T C 15: 94,777,253 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,703 (GRCm39) E452G probably damaging Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Traf6 T C 2: 101,515,134 (GRCm39) S97P probably damaging Het
Ttc28 A T 5: 111,414,449 (GRCm39) E1321D probably benign Het
Other mutations in Nt5c3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:Nt5c3 APN 6 56,863,670 (GRCm39) missense probably damaging 1.00
R0426:Nt5c3 UTSW 6 56,860,797 (GRCm39) missense probably benign
R0523:Nt5c3 UTSW 6 56,860,666 (GRCm39) missense probably damaging 1.00
R0791:Nt5c3 UTSW 6 56,863,734 (GRCm39) missense probably benign 0.02
R0792:Nt5c3 UTSW 6 56,863,734 (GRCm39) missense probably benign 0.02
R1340:Nt5c3 UTSW 6 56,860,018 (GRCm39) missense probably benign 0.02
R3703:Nt5c3 UTSW 6 56,860,652 (GRCm39) unclassified probably benign
R5942:Nt5c3 UTSW 6 56,874,839 (GRCm39) splice site probably null
R6047:Nt5c3 UTSW 6 56,859,964 (GRCm39) missense probably damaging 0.99
R6894:Nt5c3 UTSW 6 56,859,958 (GRCm39) nonsense probably null
R7923:Nt5c3 UTSW 6 56,860,027 (GRCm39) missense probably benign 0.12
R8708:Nt5c3 UTSW 6 56,874,758 (GRCm39) critical splice donor site probably null
R8753:Nt5c3 UTSW 6 56,860,677 (GRCm39) missense probably damaging 1.00
R8937:Nt5c3 UTSW 6 56,861,701 (GRCm39) missense probably damaging 1.00
R9198:Nt5c3 UTSW 6 56,859,955 (GRCm39) missense probably benign 0.03
R9206:Nt5c3 UTSW 6 56,874,793 (GRCm39) start codon destroyed probably null 0.72
Posted On 2015-12-18