Incidental Mutation 'IGL03233:Npm1'
ID413957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npm1
Ensembl Gene ENSMUSG00000057113
Gene Namenucleophosmin 1
Synonymsnucleolar protein NO38, B23, NO38
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03233
Quality Score
Status
Chromosome11
Chromosomal Location33152287-33163206 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 33156717 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 204 (Q204K)
Ref Sequence ENSEMBL: ENSMUSP00000104978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075641] [ENSMUST00000093201] [ENSMUST00000101375] [ENSMUST00000109354]
Predicted Effect probably benign
Transcript: ENSMUST00000075641
AA Change: Q204K

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000075067
Gene: ENSMUSG00000057113
AA Change: Q204K

DomainStartEndE-ValueType
Pfam:Nucleoplasmin 15 193 8.7e-73 PFAM
Pfam:NPM1-C 243 291 1.8e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093201
SMART Domains Protein: ENSMUSP00000090891
Gene: ENSMUSG00000057113

DomainStartEndE-ValueType
Pfam:Nucleoplasmin 13 195 6.1e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101375
AA Change: Q204K

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000098926
Gene: ENSMUSG00000057113
AA Change: Q204K

DomainStartEndE-ValueType
Pfam:Nucleoplasmin 15 193 1e-72 PFAM
PDB:2LLH|A 223 255 2e-13 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000109354
AA Change: Q204K

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104978
Gene: ENSMUSG00000057113
AA Change: Q204K

DomainStartEndE-ValueType
Pfam:Nucleoplasmin 13 195 5e-58 PFAM
PDB:2LLH|A 223 255 1e-13 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146759
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 phosphoprotein which moves between the nucleus and the cytoplasm. The gene product is thought to be involved in several processes including regulation of the ARF/p53 pathway. A number of genes are fusion partners have been characterized, in particular the anaplastic lymphoma kinase gene on chromosome 2. Mutations in this gene are associated with acute myeloid leukemia. More than a dozen pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality, anemia, defects in primitive hematopoeisis and abnormal brain development. Heterozygous mutation results in hematopoeisis defects and chromosomal instability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,342,120 F856S probably damaging Het
Ak7 A G 12: 105,761,480 D457G probably damaging Het
Ankrd26 G T 6: 118,535,146 probably null Het
Ano5 C A 7: 51,570,368 P405T probably damaging Het
Asah2 T A 19: 32,054,631 N46I probably benign Het
Atg4c A T 4: 99,229,503 Y343F probably benign Het
Cab39 T A 1: 85,842,323 M175K probably benign Het
Cadps2 T C 6: 23,263,601 E1257G probably benign Het
Casc1 A T 6: 145,181,885 Y433N probably damaging Het
Ces1d A G 8: 93,195,079 Y19H probably benign Het
Cst6 T C 19: 5,349,261 D25G probably damaging Het
Cyp4a30b A T 4: 115,458,970 T298S probably benign Het
Dgkk T C X: 6,903,838 L352P probably damaging Het
Dync2h1 A C 9: 7,101,525 F482V possibly damaging Het
Esco1 A G 18: 10,574,877 W208R probably damaging Het
Fbn2 T C 18: 58,102,377 D676G probably benign Het
Foxp3 T C X: 7,587,423 probably benign Het
Gpr108 T A 17: 57,245,042 I123F probably benign Het
Gsdmc4 A T 15: 63,902,860 V24E probably damaging Het
Jam3 C A 9: 27,101,921 V118F probably damaging Het
Kif23 T A 9: 61,926,453 I489F probably benign Het
Lama3 T A 18: 12,481,038 V1288D probably damaging Het
Mark2 G T 19: 7,284,726 H308N possibly damaging Het
Mms19 T C 19: 41,946,913 probably null Het
Neb A T 2: 52,308,301 I477N possibly damaging Het
Nsun5 G A 5: 135,375,445 V369M probably damaging Het
Olfr1355 C A 10: 78,879,572 Y133* probably null Het
Pcdhb13 T A 18: 37,444,265 N565K probably damaging Het
Pla2r1 A G 2: 60,428,580 F1155L possibly damaging Het
Pus10 T A 11: 23,712,241 W304R probably damaging Het
Rab32 G A 10: 10,546,313 Q221* probably null Het
Rlf A G 4: 121,182,600 probably benign Het
Robo1 A T 16: 72,970,193 I418F probably damaging Het
Slc44a2 T C 9: 21,348,622 I642T possibly damaging Het
Ston2 T A 12: 91,647,853 T594S probably damaging Het
Szt2 T C 4: 118,372,529 T2802A unknown Het
Tshz3 T A 7: 36,770,079 Y498N probably damaging Het
Zfp280b T A 10: 76,039,769 I494N probably damaging Het
Zfp281 A G 1: 136,626,829 Q515R possibly damaging Het
Other mutations in Npm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3959:Npm1 UTSW 11 33154012 missense probably damaging 1.00
R3966:Npm1 UTSW 11 33160350 missense probably benign 0.27
V5622:Npm1 UTSW 11 33161186 missense probably benign 0.39
Posted On2016-08-02