Incidental Mutation 'IGL03345:Nt5dc1'
ID 417413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nt5dc1
Ensembl Gene ENSMUSG00000039480
Gene Name 5'-nucleotidase domain containing 1
Synonyms 6030401B09Rik, Nt5c2l1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03345
Quality Score
Status
Chromosome 10
Chromosomal Location 34179605-34294585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34200458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 187 (E187G)
Ref Sequence ENSEMBL: ENSMUSP00000047126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047885] [ENSMUST00000105512]
AlphaFold Q8C5P5
Predicted Effect probably benign
Transcript: ENSMUST00000047885
AA Change: E187G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000047126
Gene: ENSMUSG00000039480
AA Change: E187G

DomainStartEndE-ValueType
Pfam:5_nucleotid 1 382 2.6e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105512
AA Change: E186G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000101151
Gene: ENSMUSG00000039480
AA Change: E186G

DomainStartEndE-ValueType
Pfam:5_nucleotid 1 372 8.7e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130290
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,250,163 (GRCm39) W987R probably damaging Het
Adcy5 T C 16: 35,069,184 (GRCm39) V384A probably benign Het
Akap12 T C 10: 4,306,697 (GRCm39) V1169A probably benign Het
Atp8a2 T C 14: 60,011,460 (GRCm39) T950A probably benign Het
Avil T C 10: 126,844,826 (GRCm39) probably benign Het
Bccip A G 7: 133,311,220 (GRCm39) D45G probably benign Het
Bcl9 A G 3: 97,116,508 (GRCm39) S729P probably benign Het
C3 T A 17: 57,526,585 (GRCm39) I799F probably damaging Het
Cstf2 C T X: 132,961,794 (GRCm39) R80C probably damaging Het
Degs1l A T 1: 180,882,937 (GRCm39) H233L probably benign Het
Dock7 A G 4: 98,873,056 (GRCm39) F1130S possibly damaging Het
Elapor1 A G 3: 108,399,332 (GRCm39) V86A possibly damaging Het
Fat2 C T 11: 55,173,187 (GRCm39) D2509N probably damaging Het
Fut10 T C 8: 31,750,069 (GRCm39) S452P probably damaging Het
Gabrb1 T A 5: 72,293,908 (GRCm39) M394K possibly damaging Het
Gkn3 T A 6: 87,365,798 (GRCm39) E7V probably null Het
Gpld1 G A 13: 25,171,007 (GRCm39) G803R probably damaging Het
Hipk2 A G 6: 38,724,937 (GRCm39) probably benign Het
Kcnu1 A T 8: 26,371,321 (GRCm39) probably benign Het
Kidins220 A T 12: 25,053,044 (GRCm39) S445C probably damaging Het
Ltbp1 A G 17: 75,373,154 (GRCm39) K266E probably damaging Het
Myh4 A T 11: 67,146,304 (GRCm39) D1454V probably damaging Het
Nrf1 A C 6: 30,089,947 (GRCm39) T9P probably damaging Het
Obscn T A 11: 58,886,308 (GRCm39) probably benign Het
Pkd2l2 T C 18: 34,558,142 (GRCm39) Y274H probably damaging Het
Rgs8 A G 1: 153,568,556 (GRCm39) K149R probably benign Het
Rinl A G 7: 28,496,222 (GRCm39) E401G possibly damaging Het
Rsbn1 A G 3: 103,822,466 (GRCm39) R234G possibly damaging Het
Slc6a3 A G 13: 73,719,633 (GRCm39) D554G probably benign Het
Slc7a2 A G 8: 41,369,530 (GRCm39) S646G probably benign Het
Syt5 A G 7: 4,545,206 (GRCm39) V231A probably benign Het
Timeless T G 10: 128,083,455 (GRCm39) S695A probably benign Het
Tmem131l G A 3: 83,868,896 (GRCm39) P160S probably damaging Het
Tspear C A 10: 77,710,716 (GRCm39) probably null Het
Ubn1 T A 16: 4,899,828 (GRCm39) H1113Q probably damaging Het
Vmn2r49 T G 7: 9,718,621 (GRCm39) K481T probably damaging Het
Xdh T C 17: 74,213,027 (GRCm39) N872S probably damaging Het
Other mutations in Nt5dc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Nt5dc1 APN 10 34,283,553 (GRCm39) missense possibly damaging 0.80
IGL02096:Nt5dc1 APN 10 34,275,806 (GRCm39) nonsense probably null
IGL02471:Nt5dc1 APN 10 34,279,721 (GRCm39) missense probably benign 0.03
R0083:Nt5dc1 UTSW 10 34,279,760 (GRCm39) missense probably damaging 0.98
R1159:Nt5dc1 UTSW 10 34,274,169 (GRCm39) missense possibly damaging 0.93
R1898:Nt5dc1 UTSW 10 34,189,631 (GRCm39) missense probably benign 0.00
R1901:Nt5dc1 UTSW 10 34,189,667 (GRCm39) missense probably damaging 1.00
R2327:Nt5dc1 UTSW 10 34,189,673 (GRCm39) missense possibly damaging 0.66
R4365:Nt5dc1 UTSW 10 34,186,377 (GRCm39) missense probably benign 0.20
R4942:Nt5dc1 UTSW 10 34,198,673 (GRCm39) missense probably damaging 1.00
R4943:Nt5dc1 UTSW 10 34,186,387 (GRCm39) missense probably damaging 1.00
R5168:Nt5dc1 UTSW 10 34,273,236 (GRCm39) missense probably benign 0.05
R5507:Nt5dc1 UTSW 10 34,273,226 (GRCm39) missense probably benign
R5605:Nt5dc1 UTSW 10 34,279,691 (GRCm39) missense probably benign 0.12
R6406:Nt5dc1 UTSW 10 34,200,404 (GRCm39) missense probably benign 0.04
R6495:Nt5dc1 UTSW 10 34,200,365 (GRCm39) missense probably damaging 1.00
R6799:Nt5dc1 UTSW 10 34,189,703 (GRCm39) missense possibly damaging 0.79
R6835:Nt5dc1 UTSW 10 34,186,375 (GRCm39) missense probably benign 0.04
R7480:Nt5dc1 UTSW 10 34,200,450 (GRCm39) missense probably damaging 1.00
R7480:Nt5dc1 UTSW 10 34,200,449 (GRCm39) missense probably damaging 1.00
R7486:Nt5dc1 UTSW 10 34,275,805 (GRCm39) missense probably benign 0.26
R7493:Nt5dc1 UTSW 10 34,180,932 (GRCm39) missense probably benign 0.00
R7638:Nt5dc1 UTSW 10 34,190,792 (GRCm39) missense probably benign 0.04
R8042:Nt5dc1 UTSW 10 34,273,210 (GRCm39) missense probably benign 0.19
R8160:Nt5dc1 UTSW 10 34,200,392 (GRCm39) missense possibly damaging 0.79
R8268:Nt5dc1 UTSW 10 34,186,407 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02