Incidental Mutation 'R5942:Nt5c3'
ID 460341
Institutional Source Beutler Lab
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
MMRRC Submission 044134-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R5942 (G1)
Quality Score 212
Status Not validated
Chromosome 6
Chromosomal Location 56859385-56900917 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 56874839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000098918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031793] [ENSMUST00000101367] [ENSMUST00000101367] [ENSMUST00000135558] [ENSMUST00000152447]
AlphaFold Q9D020
Predicted Effect probably null
Transcript: ENSMUST00000031793
SMART Domains Protein: ENSMUSP00000031793
Gene: ENSMUSG00000029780

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:UMPH-1 86 331 5.6e-119 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000101367
SMART Domains Protein: ENSMUSP00000098918
Gene: ENSMUSG00000029780

DomainStartEndE-ValueType
Pfam:UMPH-1 52 297 2.1e-118 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000101367
SMART Domains Protein: ENSMUSP00000098918
Gene: ENSMUSG00000029780

DomainStartEndE-ValueType
Pfam:UMPH-1 52 297 2.1e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127725
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134577
Predicted Effect probably benign
Transcript: ENSMUST00000135558
SMART Domains Protein: ENSMUSP00000145230
Gene: ENSMUSG00000029780

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138647
Predicted Effect probably benign
Transcript: ENSMUST00000152447
Predicted Effect probably benign
Transcript: ENSMUST00000205087
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 96.7%
  • 20x: 89.5%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C T 17: 46,623,333 (GRCm39) V860M probably benign Het
Accs A T 2: 93,666,392 (GRCm39) L432M probably damaging Het
Actrt3 T A 3: 30,652,813 (GRCm39) N94Y possibly damaging Het
Adamts18 T C 8: 114,504,380 (GRCm39) Q80R probably benign Het
Ccr8 G T 9: 119,923,772 (GRCm39) V296F probably damaging Het
Cep170 T A 1: 176,583,985 (GRCm39) E798V probably damaging Het
Cttnbp2 T A 6: 18,448,439 (GRCm39) E73D probably damaging Het
Cyp2a4 A T 7: 26,010,129 (GRCm39) probably null Het
Dync2h1 A T 9: 7,117,466 (GRCm39) Y41* probably null Het
Enc1 G A 13: 97,382,887 (GRCm39) D466N probably benign Het
Enpp1 C A 10: 24,551,966 (GRCm39) E138* probably null Het
Entrep1 A G 19: 23,963,834 (GRCm39) V245A probably damaging Het
Ezh2 T C 6: 47,554,516 (GRCm39) R27G possibly damaging Het
Fut10 A G 8: 31,691,485 (GRCm39) N110S possibly damaging Het
Glt1d1 A T 5: 127,721,534 (GRCm39) probably null Het
Gm14393 G A 2: 174,903,689 (GRCm39) Q73* probably null Het
Gpr156 C T 16: 37,825,264 (GRCm39) P494S probably benign Het
Has2 T A 15: 56,531,192 (GRCm39) K508* probably null Het
Hc A T 2: 34,918,137 (GRCm39) C715* probably null Het
Hook2 C T 8: 85,721,409 (GRCm39) probably null Het
Klhdc7b A C 15: 89,271,634 (GRCm39) I839L probably benign Het
Kndc1 T C 7: 139,516,792 (GRCm39) L1584P probably damaging Het
Lamp1 T C 8: 13,223,941 (GRCm39) F358L probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mga A G 2: 119,777,440 (GRCm39) I1871V probably benign Het
Mgmt T A 7: 136,723,219 (GRCm39) D96E probably benign Het
Morc2a C A 11: 3,629,936 (GRCm39) T424K probably damaging Het
Myo1g A G 11: 6,464,888 (GRCm39) L462P probably damaging Het
Ncaph C A 2: 126,958,608 (GRCm39) probably null Het
Nlrc3 A T 16: 3,767,293 (GRCm39) D969E probably damaging Het
Or4c12b G T 2: 89,646,684 (GRCm39) E5* probably null Het
Or5ac15 A T 16: 58,940,039 (GRCm39) Y131* probably null Het
Or5d41 A C 2: 88,054,916 (GRCm39) I153M probably benign Het
Or8h8 T C 2: 86,753,750 (GRCm39) N42S probably damaging Het
Parp14 C A 16: 35,659,737 (GRCm39) M1628I probably damaging Het
Parp8 G T 13: 117,005,969 (GRCm39) P693Q probably benign Het
Parp9 A G 16: 35,792,259 (GRCm39) D485G possibly damaging Het
Pcdha1 T A 18: 37,063,444 (GRCm39) V36D probably damaging Het
Pcdhb5 C T 18: 37,453,838 (GRCm39) Q73* probably null Het
Pecam1 G T 11: 106,552,809 (GRCm39) probably benign Het
Pex1 A G 5: 3,660,277 (GRCm39) I527V probably benign Het
Phf11 G A 14: 59,497,593 (GRCm39) P13S probably benign Het
Ppp4r4 T A 12: 103,553,706 (GRCm39) V388D possibly damaging Het
Psmc4 C T 7: 27,746,480 (GRCm39) V202I probably damaging Het
Ptx3 T G 3: 66,127,484 (GRCm39) M1R probably null Het
Rimbp3 A G 16: 17,029,752 (GRCm39) T1059A probably benign Het
Rmdn3 G A 2: 118,978,058 (GRCm39) A181V probably damaging Het
Rnase10 A T 14: 51,246,735 (GRCm39) M38L probably benign Het
Sec16b T A 1: 157,358,920 (GRCm39) Y118N probably damaging Het
Sigmar1 T C 4: 41,741,159 (GRCm39) T32A probably benign Het
Srcap A G 7: 127,137,180 (GRCm39) D954G probably damaging Het
Tfrc A G 16: 32,445,533 (GRCm39) N618S possibly damaging Het
Tnrc6a A G 7: 122,785,888 (GRCm39) D1028G probably damaging Het
Tns3 A T 11: 8,385,860 (GRCm39) D1379E probably damaging Het
Ttn A T 2: 76,580,505 (GRCm39) C23463S possibly damaging Het
Ufl1 T C 4: 25,250,619 (GRCm39) T745A probably benign Het
Vmn1r231 T A 17: 21,110,417 (GRCm39) Y166F possibly damaging Het
Wbp1l C A 19: 46,642,869 (GRCm39) T290K probably damaging Het
Wdr25 A G 12: 108,864,392 (GRCm39) N179S probably benign Het
Wdr62 G A 7: 29,942,504 (GRCm39) Q1035* probably null Het
Yif1a C T 19: 5,141,669 (GRCm39) R196C probably damaging Het
Zfp352 A T 4: 90,113,307 (GRCm39) K482N probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Nt5c3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:Nt5c3 APN 6 56,863,670 (GRCm39) missense probably damaging 1.00
IGL02819:Nt5c3 APN 6 56,860,718 (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
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
Predicted Primers PCR Primer
(F):5'- CCATGTCACTCAGCAAATGC -3'
(R):5'- CCAGCTCTTGATGTAATAGTTTCATCC -3'

Sequencing Primer
(F):5'- CTGTGTGCTGAGCATCATGAAGAG -3'
(R):5'- GCTGAATATGAAGCCTGCA -3'
Posted On 2017-02-28