Incidental Mutation 'IGL03228:Nt5c'
ID 413793
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 # IGL03228
Quality Score
Status
Chromosome 11
Chromosomal Location 115381251-115382659 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115381987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 107 (Y107H)
Ref Sequence ENSEMBL: ENSMUSP00000102140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021082] [ENSMUST00000035240] [ENSMUST00000106530]
AlphaFold Q9JM14
Predicted Effect probably damaging
Transcript: ENSMUST00000021082
AA Change: Y107H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021082
Gene: ENSMUSG00000020736
AA Change: Y107H

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 damaging
Transcript: ENSMUST00000106530
AA Change: Y107H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102140
Gene: ENSMUSG00000020736
AA Change: Y107H

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid3a G A 10: 79,786,578 (GRCm39) V444I possibly damaging Het
Catsperg2 T C 7: 29,397,650 (GRCm39) Y1021C probably damaging Het
Cbx1 A G 11: 96,691,631 (GRCm39) probably benign Het
Cdk15 G T 1: 59,297,912 (GRCm39) K106N possibly damaging Het
Itpkb A T 1: 180,241,564 (GRCm39) R745W probably damaging Het
Kdr T A 5: 76,117,708 (GRCm39) I682F probably damaging Het
Klhl1 T A 14: 96,477,763 (GRCm39) E435V probably damaging Het
Lamp3 T A 16: 19,494,817 (GRCm39) Y296F possibly damaging Het
Ltb4r2 A T 14: 55,999,408 (GRCm39) N10Y probably damaging Het
Mmrn1 C T 6: 60,921,876 (GRCm39) P111L probably benign Het
Or2m12 A C 16: 19,105,140 (GRCm39) L118V probably damaging Het
Or5p53 T A 7: 107,533,330 (GRCm39) I201N possibly damaging Het
Or8h9 A G 2: 86,789,050 (GRCm39) F251L probably benign Het
Piezo2 T A 18: 63,186,133 (GRCm39) S1679C probably damaging Het
Plac8l1 T A 18: 42,325,672 (GRCm39) S78C probably damaging Het
Scyl2 A T 10: 89,485,942 (GRCm39) I549N probably damaging Het
Slc51a G A 16: 32,297,568 (GRCm39) R110C probably damaging Het
Slc6a20b G T 9: 123,461,197 (GRCm39) Y65* probably null Het
Stx11 G A 10: 12,816,956 (GRCm39) T256M probably benign Het
Syne2 T C 12: 76,026,686 (GRCm39) C3505R probably benign Het
Trim75 A G 8: 65,436,006 (GRCm39) L148P probably benign Het
Ubr4 T A 4: 139,156,909 (GRCm39) N2311K probably damaging Het
Zfp553 A G 7: 126,835,249 (GRCm39) H268R probably damaging 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
IGL02380:Nt5c APN 11 115,382,127 (GRCm39) missense possibly damaging 0.88
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 2016-08-02