Incidental Mutation 'IGL00529:Nt5c'
ID 13651
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 # IGL00529
Quality Score
Status
Chromosome 11
Chromosomal Location 115381251-115382659 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 115382151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 76 (L76*)
Ref Sequence ENSEMBL: ENSMUSP00000102140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021082] [ENSMUST00000035240] [ENSMUST00000106530]
AlphaFold Q9JM14
Predicted Effect probably null
Transcript: ENSMUST00000021082
AA Change: L76*
SMART Domains Protein: ENSMUSP00000021082
Gene: ENSMUSG00000020736
AA Change: L76*

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 probably null
Transcript: ENSMUST00000106530
AA Change: L76*
SMART Domains Protein: ENSMUSP00000102140
Gene: ENSMUSG00000020736
AA Change: L76*

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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T C 8: 46,966,797 (GRCm39) probably benign Het
Cd36 A G 5: 17,992,700 (GRCm39) I413T probably damaging Het
Fancm A G 12: 65,177,191 (GRCm39) probably benign Het
Golim4 A T 3: 75,793,618 (GRCm39) N599K probably damaging Het
Herc2 T C 7: 55,807,501 (GRCm39) V2530A probably benign Het
Inpp5k A G 11: 75,522,030 (GRCm39) probably benign Het
Slc25a4 T C 8: 46,662,346 (GRCm39) D104G probably damaging Het
Smchd1 A G 17: 71,701,794 (GRCm39) V1066A probably benign Het
Snapc1 A G 12: 74,011,429 (GRCm39) T32A probably benign Het
Usp32 G A 11: 84,885,252 (GRCm39) A1265V probably damaging Het
Other mutations in Nt5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01633:Nt5c APN 11 115,382,161 (GRCm39) missense probably damaging 1.00
IGL02380:Nt5c APN 11 115,382,127 (GRCm39) missense possibly damaging 0.88
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 2012-12-06