Incidental Mutation 'R6894:Nt5c3'
ID 538210
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 044988-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R6894 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 56859385-56900917 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 56859958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 293 (L293*)
Ref Sequence ENSEMBL: ENSMUSP00000098918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031793] [ENSMUST00000031795] [ENSMUST00000101367] [ENSMUST00000135558] [ENSMUST00000152447]
AlphaFold Q9D020
Predicted Effect probably null
Transcript: ENSMUST00000031793
AA Change: L327*
SMART Domains Protein: ENSMUSP00000031793
Gene: ENSMUSG00000029780
AA Change: L327*

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 null
Transcript: ENSMUST00000101367
AA Change: L293*
SMART Domains Protein: ENSMUSP00000098918
Gene: ENSMUSG00000029780
AA Change: L293*

DomainStartEndE-ValueType
Pfam:UMPH-1 52 297 2.1e-118 PFAM
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik C A 2: 151,315,227 (GRCm39) L150F probably damaging Het
4930449I24Rik G A 5: 146,441,542 (GRCm39) E230K possibly damaging Het
4930449I24Rik A T 5: 146,441,543 (GRCm39) E230V probably benign Het
9430038I01Rik A G 7: 136,989,117 (GRCm39) C93R possibly damaging Het
Aoc1l2 G A 6: 48,907,596 (GRCm39) A199T probably damaging Het
Apobec1 T C 6: 122,568,201 (GRCm39) probably benign Het
Arl4c T A 1: 88,629,097 (GRCm39) D97V probably damaging Het
Ash1l A G 3: 88,890,298 (GRCm39) T726A probably benign Het
Asz1 A C 6: 18,055,520 (GRCm39) F359V probably damaging Het
Atr T A 9: 95,809,250 (GRCm39) L1970H probably damaging Het
Baz2a G T 10: 127,959,450 (GRCm39) A1322S possibly damaging Het
Cd209e T A 8: 3,903,569 (GRCm39) I37F possibly damaging Het
Cd209f T C 8: 4,155,477 (GRCm39) K37R probably benign Het
Cd5 G C 19: 10,716,203 (GRCm39) S3C possibly damaging Het
Clec16a A T 16: 10,462,718 (GRCm39) I260F probably damaging Het
Cltc A T 11: 86,603,428 (GRCm39) Y799* probably null Het
Cplane1 T C 15: 8,216,852 (GRCm39) L690P probably damaging Het
Csde1 G A 3: 102,951,972 (GRCm39) V258I possibly damaging Het
Dennd5a G T 7: 109,500,325 (GRCm39) H909Q probably damaging Het
Dnah12 A G 14: 26,456,904 (GRCm39) D890G probably damaging Het
Dnah2 A T 11: 69,375,086 (GRCm39) M1379K probably benign Het
Dpp10 A T 1: 123,264,593 (GRCm39) I743N probably damaging Het
Dpp9 T A 17: 56,495,321 (GRCm39) T815S probably damaging Het
Ears2 T C 7: 121,647,447 (GRCm39) N279S probably damaging Het
Ect2l A G 10: 18,045,128 (GRCm39) probably null Het
Eomes C G 9: 118,310,353 (GRCm39) P288A probably damaging Het
Fat3 T C 9: 15,909,072 (GRCm39) D2310G probably damaging Het
Fignl2 T C 15: 100,951,854 (GRCm39) T143A probably benign Het
Gdf9 A G 11: 53,327,646 (GRCm39) K201E possibly damaging Het
Gfra3 C T 18: 34,828,710 (GRCm39) R228Q probably damaging Het
Grin1 A T 2: 25,185,829 (GRCm39) V876E probably damaging Het
Igkv12-41 A C 6: 69,835,635 (GRCm39) V39G probably damaging Het
Kat7 A T 11: 95,174,910 (GRCm39) M367K possibly damaging Het
Ly6d T C 15: 74,634,654 (GRCm39) K33E possibly damaging Het
Lztfl1 T C 9: 123,529,998 (GRCm39) N273S possibly damaging Het
Macf1 T A 4: 123,377,480 (GRCm39) I1485F possibly damaging Het
Marchf10 G T 11: 105,287,787 (GRCm39) L172I possibly damaging Het
Mdn1 T G 4: 32,748,614 (GRCm39) S4220A possibly damaging Het
Muc16 A G 9: 18,406,872 (GRCm39) V8460A possibly damaging Het
Myh14 A G 7: 44,282,936 (GRCm39) F769L probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Mylk4 A G 13: 32,905,998 (GRCm39) L395P probably damaging Het
Nat8f6 A T 6: 85,785,504 (GRCm39) L215* probably null Het
Nell2 T C 15: 95,244,768 (GRCm39) D443G probably damaging Het
Nkx6-3 A G 8: 23,647,632 (GRCm39) K197R probably benign Het
Ntrk1 A T 3: 87,690,109 (GRCm39) V429D probably damaging Het
Obscn A G 11: 59,023,508 (GRCm39) V623A probably benign Het
Or2o1 T C 11: 49,051,186 (GRCm39) F115S probably benign Het
Or4c1 A G 2: 89,133,837 (GRCm39) L33S probably damaging Het
Or5ac21 A G 16: 59,124,142 (GRCm39) T209A probably damaging Het
Or5p5 C T 7: 107,414,271 (GRCm39) T160I probably benign Het
Or6c74 T C 10: 129,870,178 (GRCm39) S228P probably damaging Het
Or8k22 A T 2: 86,163,295 (GRCm39) I135N probably damaging Het
Pate3 T A 9: 35,557,969 (GRCm39) D33V probably damaging Het
Pcnx1 T A 12: 82,034,747 (GRCm39) I1843N probably damaging Het
Pla2g4f A T 2: 120,134,077 (GRCm39) I503N probably benign Het
Prkg1 C A 19: 30,602,174 (GRCm39) E361* probably null Het
Proca1 A G 11: 78,085,613 (GRCm39) probably benign Het
Prss38 G T 11: 59,263,850 (GRCm39) H287Q probably benign Het
Ptpdc1 T C 13: 48,744,114 (GRCm39) E169G probably benign Het
Ptpn21 T C 12: 98,681,440 (GRCm39) S65G probably damaging Het
Rfx6 A T 10: 51,592,135 (GRCm39) H177L probably damaging Het
Slc20a2 G A 8: 23,050,609 (GRCm39) G276D possibly damaging Het
Spag6l A T 16: 16,601,802 (GRCm39) L159I probably damaging Het
Spata31f1a G A 4: 42,850,291 (GRCm39) P622S probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Stk33 T A 7: 108,935,269 (GRCm39) E174D possibly damaging Het
Stxbp5 A T 10: 9,660,105 (GRCm39) V730E probably benign Het
Tmprss15 A T 16: 78,872,702 (GRCm39) L168* probably null Het
Tnrc18 A T 5: 142,745,804 (GRCm39) M1323K unknown Het
Tpr T C 1: 150,312,598 (GRCm39) V1932A probably benign Het
Trak2 A G 1: 58,950,892 (GRCm39) S432P probably damaging Het
Ttn A T 2: 76,738,534 (GRCm39) F4002I probably benign Het
Txndc11 G A 16: 10,906,009 (GRCm39) T507I probably damaging Het
Usp12 G A 5: 146,691,349 (GRCm39) T135I possibly damaging Het
Vit T A 17: 78,934,187 (GRCm39) Y596* probably null Het
Vmn1r32 A T 6: 66,530,345 (GRCm39) Y144N possibly damaging Het
Vmn2r80 G T 10: 79,005,438 (GRCm39) L358F probably benign Het
Zfp382 T G 7: 29,825,261 (GRCm39) S38A probably benign 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
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
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'- ACAGGTTCCACACGTCTGAAG -3'
(R):5'- TGTCCATGATAAGTCTGAGAGTG -3'

Sequencing Primer
(F):5'- ACACGTCTGAAGATCGTCTG -3'
(R):5'- CCAGCGATCATGATGCTGAG -3'
Posted On 2018-11-06