Incidental Mutation 'R1159:Nt5dc1'
ID101977
Institutional Source Beutler Lab
Gene Symbol Nt5dc1
Ensembl Gene ENSMUSG00000039480
Gene Name5'-nucleotidase domain containing 1
SynonymsNt5c2l1, 6030401B09Rik
MMRRC Submission 039232-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.242) question?
Stock #R1159 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location34288288-34418552 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34398173 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 167 (D167G)
Ref Sequence ENSEMBL: ENSMUSP00000097553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047885] [ENSMUST00000099973] [ENSMUST00000105511] [ENSMUST00000105512] [ENSMUST00000213269]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047885
AA Change: D167G

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047126
Gene: ENSMUSG00000039480
AA Change: D167G

DomainStartEndE-ValueType
Pfam:5_nucleotid 1 382 2.6e-58 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000099973
AA Change: D167G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097553
Gene: ENSMUSG00000039480
AA Change: D167G

DomainStartEndE-ValueType
Pfam:5_nucleotid 1 189 8.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105511
SMART Domains Protein: ENSMUSP00000101150
Gene: ENSMUSG00000039462

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 60 101 N/A INTRINSIC
Pfam:Collagen 103 155 1.4e-9 PFAM
Pfam:Collagen 153 218 1.4e-8 PFAM
Pfam:Collagen 193 250 2.6e-9 PFAM
Pfam:Collagen 206 264 3.8e-8 PFAM
low complexity region 282 323 N/A INTRINSIC
internal_repeat_2 329 361 2.25e-6 PROSPERO
internal_repeat_1 331 365 5.9e-14 PROSPERO
low complexity region 368 383 N/A INTRINSIC
low complexity region 391 410 N/A INTRINSIC
Pfam:Collagen 413 483 9.3e-10 PFAM
low complexity region 487 517 N/A INTRINSIC
C1Q 545 680 2.85e-79 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105512
AA Change: D166G

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101151
Gene: ENSMUSG00000039480
AA Change: D166G

DomainStartEndE-ValueType
Pfam:5_nucleotid 1 372 8.7e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130290
Predicted Effect probably benign
Transcript: ENSMUST00000213269
Meta Mutation Damage Score 0.29 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 100% (42/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,115,138 H164Y probably damaging Het
Acss2 T C 2: 155,551,218 I288T probably benign Het
Akap9 C T 5: 3,960,865 R541C probably damaging Het
Ano5 T C 7: 51,579,474 probably benign Het
Anp32b T C 4: 46,471,478 probably benign Het
Avil T C 10: 127,011,790 V528A possibly damaging Het
B020004J07Rik T C 4: 101,838,027 E29G possibly damaging Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Cdk10 T C 8: 123,228,323 probably benign Het
Cfap65 A T 1: 74,929,340 F111Y probably damaging Het
Cryge A G 1: 65,050,808 F72L probably benign Het
Ercc3 C T 18: 32,264,558 T614I possibly damaging Het
Fgd5 T C 6: 91,988,502 I572T probably benign Het
Fubp1 A G 3: 152,215,592 D88G possibly damaging Het
Gcnt1 C A 19: 17,329,804 V186F possibly damaging Het
Gldc A T 19: 30,160,762 probably benign Het
Gxylt2 A G 6: 100,804,641 M426V possibly damaging Het
Hps5 A T 7: 46,772,554 probably null Het
Igf2bp2 G A 16: 22,061,853 probably benign Het
Lamb2 T C 9: 108,481,408 S215P probably damaging Het
Mfsd13b T C 7: 121,014,543 M421T probably damaging Het
Mtif2 C A 11: 29,540,729 R478S possibly damaging Het
Nadk2 G A 15: 9,106,837 R351H possibly damaging Het
Nup98 T A 7: 102,160,716 T536S probably damaging Het
Parp14 G A 16: 35,856,760 A946V probably benign Het
Ppig T A 2: 69,750,224 S701T unknown Het
Ptprc A G 1: 138,072,319 S830P probably damaging Het
Rev3l T A 10: 39,851,925 L2690* probably null Het
Rgs22 A T 15: 36,040,693 S883T probably damaging Het
Rxfp4 A G 3: 88,652,587 W186R probably damaging Het
Sacm1l T C 9: 123,566,411 S200P probably benign Het
Serpinb6d T A 13: 33,671,229 D295E probably damaging Het
Slc38a10 A G 11: 120,105,475 V932A probably benign Het
Top2b T C 14: 16,430,329 S1568P possibly damaging Het
Tox T G 4: 6,697,600 N401T probably benign Het
Trim24 T C 6: 37,956,477 probably null Het
Unc79 T G 12: 103,047,052 probably benign Het
Vmn2r66 A T 7: 84,995,405 I599N probably benign Het
Zfa-ps T A 10: 52,543,558 noncoding transcript Het
Other mutations in Nt5dc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Nt5dc1 APN 10 34407557 missense possibly damaging 0.80
IGL02096:Nt5dc1 APN 10 34399810 nonsense probably null
IGL02471:Nt5dc1 APN 10 34403725 missense probably benign 0.03
IGL03345:Nt5dc1 APN 10 34324462 missense probably benign 0.04
R0083:Nt5dc1 UTSW 10 34403764 missense probably damaging 0.98
R1898:Nt5dc1 UTSW 10 34313635 missense probably benign 0.00
R1901:Nt5dc1 UTSW 10 34313671 missense probably damaging 1.00
R2327:Nt5dc1 UTSW 10 34313677 missense possibly damaging 0.66
R4365:Nt5dc1 UTSW 10 34310381 missense probably benign 0.20
R4942:Nt5dc1 UTSW 10 34322677 missense probably damaging 1.00
R4943:Nt5dc1 UTSW 10 34310391 missense probably damaging 1.00
R5168:Nt5dc1 UTSW 10 34397240 missense probably benign 0.05
R5507:Nt5dc1 UTSW 10 34397230 missense probably benign
R5605:Nt5dc1 UTSW 10 34403695 missense probably benign 0.12
R6406:Nt5dc1 UTSW 10 34324408 missense probably benign 0.04
R6495:Nt5dc1 UTSW 10 34324369 missense probably damaging 1.00
R6799:Nt5dc1 UTSW 10 34313707 missense possibly damaging 0.79
R6835:Nt5dc1 UTSW 10 34310379 missense probably benign 0.04
Predicted Primers
Posted On2014-01-15