Incidental Mutation 'IGL02380:Nt5c'
ID 291320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nt5c
Ensembl Gene ENSMUSG00000020736
Gene Name 5',3'-nucleotidase, cytosolic
Synonyms Dnt1, Dnt, Umph2, Umph-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02380
Quality Score
Status
Chromosome 11
Chromosomal Location 115381251-115382659 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115382127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 84 (D84G)
Ref Sequence ENSEMBL: ENSMUSP00000102140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021082] [ENSMUST00000035240] [ENSMUST00000106530]
AlphaFold Q9JM14
Predicted Effect possibly damaging
Transcript: ENSMUST00000021082
AA Change: D84G

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021082
Gene: ENSMUSG00000020736
AA Change: D84G

DomainStartEndE-ValueType
Pfam:NT5C 5 198 1.7e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035240
SMART Domains Protein: ENSMUSP00000046120
Gene: ENSMUSG00000057219

DomainStartEndE-ValueType
Pfam:Arm 87 127 4.2e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106530
AA Change: D84G

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102140
Gene: ENSMUSG00000020736
AA Change: D84G

DomainStartEndE-ValueType
Pfam:NT5C 5 158 6.8e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125940
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140181
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 nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of nucleotidases characterized, this enzyme is unique in its preference for 5'-dNTP. It may be one of the enzymes involved in regulating the size of dNTP pools in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C A 7: 40,643,968 (GRCm39) P546T possibly damaging Het
Abca13 T C 11: 9,241,599 (GRCm39) I1154T possibly damaging Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acsm5 A T 7: 119,136,509 (GRCm39) Q360L probably benign Het
Adamtsl5 T C 10: 80,177,612 (GRCm39) E350G probably benign Het
Adgrl2 A T 3: 148,534,125 (GRCm39) L1017* probably null Het
Aqr T C 2: 113,940,417 (GRCm39) D1243G probably damaging Het
Arhgef17 G T 7: 100,578,650 (GRCm39) P766Q possibly damaging Het
Bclaf1 T C 10: 20,201,113 (GRCm39) V413A possibly damaging Het
Bcr A G 10: 75,011,131 (GRCm39) D14G probably benign Het
Cadps2 C T 6: 23,287,731 (GRCm39) V1190I probably benign Het
Cdh9 A G 15: 16,856,086 (GRCm39) I709V possibly damaging Het
Cnbd1 C A 4: 18,887,748 (GRCm39) probably null Het
Cnbd1 T A 4: 18,887,749 (GRCm39) probably null Het
Col4a3 T C 1: 82,650,509 (GRCm39) probably benign Het
Coro1a T A 7: 126,302,288 (GRCm39) K20* probably null Het
Crb2 T A 2: 37,673,447 (GRCm39) D114E probably damaging Het
Dnah6 C A 6: 73,053,623 (GRCm39) K2870N probably benign Het
Fpr3 A G 17: 18,191,254 (GRCm39) H175R probably benign Het
Gk5 T G 9: 96,032,533 (GRCm39) S248A possibly damaging Het
Grm4 T A 17: 27,653,635 (GRCm39) I772F probably damaging Het
Gstt4 A G 10: 75,653,073 (GRCm39) I163T possibly damaging Het
Hr A G 14: 70,795,201 (GRCm39) R278G probably damaging Het
Igfbp5 T A 1: 72,903,108 (GRCm39) R156* probably null Het
Ighv1-4 G A 12: 114,450,753 (GRCm39) probably benign Het
Insyn2a A T 7: 134,500,873 (GRCm39) probably null Het
Kcna2 A C 3: 107,012,274 (GRCm39) Q285P probably benign Het
Klf5 A T 14: 99,538,894 (GRCm39) R102S possibly damaging Het
Ldb1 A T 19: 46,022,929 (GRCm39) M252K possibly damaging Het
Lrrc66 T C 5: 73,787,009 (GRCm39) I114V possibly damaging Het
Map1b A T 13: 99,567,651 (GRCm39) I1690N unknown Het
Myo1a A G 10: 127,550,354 (GRCm39) T565A probably benign Het
Pde1b A G 15: 103,428,417 (GRCm39) N51S possibly damaging Het
Pikfyve T A 1: 65,295,180 (GRCm39) L1437Q probably damaging Het
Pld5 C T 1: 175,967,610 (GRCm39) V82I probably damaging Het
Psmb6 T A 11: 70,416,737 (GRCm39) N42K probably benign Het
Slco3a1 G A 7: 74,204,238 (GRCm39) S34F probably damaging Het
Slfn9 A G 11: 82,872,046 (GRCm39) Y897H probably benign Het
Spag6l T C 16: 16,581,033 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tmem215 A T 4: 40,474,534 (GRCm39) I204F probably benign Het
Txnl1 A G 18: 63,807,114 (GRCm39) probably null Het
Ube2q2 T A 9: 55,070,296 (GRCm39) D79E probably benign Het
Ugt2a3 T C 5: 87,484,658 (GRCm39) D122G probably benign Het
Vmn2r73 A T 7: 85,507,383 (GRCm39) I643K probably benign Het
Xkrx T A X: 133,051,388 (GRCm39) H421L probably benign Het
Other mutations in Nt5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00529:Nt5c APN 11 115,382,151 (GRCm39) nonsense probably null
IGL01633:Nt5c APN 11 115,382,161 (GRCm39) missense probably damaging 1.00
IGL03228:Nt5c APN 11 115,381,987 (GRCm39) missense probably damaging 1.00
R0402:Nt5c UTSW 11 115,381,468 (GRCm39) makesense probably null
R0631:Nt5c UTSW 11 115,381,540 (GRCm39) splice site probably null
R3727:Nt5c UTSW 11 115,381,474 (GRCm39) nonsense probably null
R5371:Nt5c UTSW 11 115,381,643 (GRCm39) splice site probably null
R5373:Nt5c UTSW 11 115,381,643 (GRCm39) splice site probably null
R5374:Nt5c UTSW 11 115,381,643 (GRCm39) splice site probably null
Posted On 2015-04-16