Incidental Mutation 'IGL01582:Ntpcr'
ID91397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntpcr
Ensembl Gene ENSMUSG00000031851
Gene Namenucleoside-triphosphatase, cancer-related
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL01582
Quality Score
Status
Chromosome8
Chromosomal Location125729963-125748235 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 125745242 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 64 (S64P)
Ref Sequence ENSEMBL: ENSMUSP00000121271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034313] [ENSMUST00000143504] [ENSMUST00000152189]
Predicted Effect probably benign
Transcript: ENSMUST00000034313
AA Change: S101P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034313
Gene: ENSMUSG00000031851
AA Change: S101P

DomainStartEndE-ValueType
AAA 1 170 2.61e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138656
Predicted Effect probably benign
Transcript: ENSMUST00000143504
AA Change: S64P

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000121271
Gene: ENSMUSG00000031851
AA Change: S64P

DomainStartEndE-ValueType
Pfam:NTPase_1 56 145 5.4e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146055
Predicted Effect probably benign
Transcript: ENSMUST00000152189
AA Change: S97P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000115996
Gene: ENSMUSG00000031851
AA Change: S97P

DomainStartEndE-ValueType
Pfam:NTPase_1 6 178 3.2e-63 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a non-specific nucleoside triphosphatase that is slow-acting in vitro. This gene is overexpressed in many tumor tissues, and while it is not essential for the cell, overexpression is cytotoxic. However, the cytotoxicity is not related to its triphosphatase activity. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aurkb G A 11: 69,048,779 V201I probably damaging Het
Csmd2 G T 4: 128,563,305 E212* probably null Het
Dsg1a G T 18: 20,328,848 K335N probably null Het
Epn2 A G 11: 61,521,869 S430P probably benign Het
Ezh2 A T 6: 47,556,055 Y144* probably null Het
Fcgbp G T 7: 28,093,642 D1024Y probably benign Het
Gm8906 A G 5: 11,505,273 T70A probably benign Het
Gramd3 A G 18: 56,485,416 E232G probably damaging Het
Inf2 A G 12: 112,610,559 K989R unknown Het
Lrpprc G A 17: 84,754,543 A577V probably null Het
Mansc1 T A 6: 134,621,873 N27I possibly damaging Het
Nr1i3 A T 1: 171,214,972 I56F possibly damaging Het
Olfr603 A T 7: 103,383,599 Y134* probably null Het
Ppwd1 A G 13: 104,213,704 I391T probably benign Het
Serpinb3d A G 1: 107,079,666 F197L probably damaging Het
Siglecf A G 7: 43,358,721 N553D possibly damaging Het
Slc2a2 A G 3: 28,708,488 D60G probably benign Het
Spsb4 T G 9: 96,996,090 D60A probably damaging Het
Tnnt1 T C 7: 4,509,983 E100G probably damaging Het
Zmiz1 T C 14: 25,658,230 M938T probably benign Het
Other mutations in Ntpcr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Ntpcr APN 8 125747762 missense probably damaging 0.98
IGL01862:Ntpcr APN 8 125736098 missense probably benign 0.14
IGL02045:Ntpcr APN 8 125745452 splice site probably benign
IGL02077:Ntpcr APN 8 125737368 nonsense probably null
R0491:Ntpcr UTSW 8 125737354 nonsense probably null
R0988:Ntpcr UTSW 8 125737431 splice site probably benign
R1781:Ntpcr UTSW 8 125745402 missense probably damaging 1.00
R2412:Ntpcr UTSW 8 125745405 missense probably damaging 1.00
R3838:Ntpcr UTSW 8 125737372 missense probably damaging 1.00
R4453:Ntpcr UTSW 8 125736190 missense probably benign 0.14
R6126:Ntpcr UTSW 8 125735887 critical splice donor site probably null
R6440:Ntpcr UTSW 8 125745242 missense probably damaging 0.97
R6463:Ntpcr UTSW 8 125736104 missense probably benign 0.02
R7102:Ntpcr UTSW 8 125730055 missense unknown
R7910:Ntpcr UTSW 8 125747744 missense probably benign
R8230:Ntpcr UTSW 8 125737420 critical splice donor site probably null
X0024:Ntpcr UTSW 8 125745426 missense probably damaging 0.99
X0025:Ntpcr UTSW 8 125745315 missense probably damaging 1.00
Z1177:Ntpcr UTSW 8 125745284 frame shift probably null
Posted On2013-12-09