Incidental Mutation 'IGL02208:Npm3'
ID 284591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npm3
Ensembl Gene ENSMUSG00000056209
Gene Name nucleoplasmin 3
Synonyms Nub1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02208
Quality Score
Status
Chromosome 19
Chromosomal Location 45736173-45738004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45737299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 72 (T72A)
Ref Sequence ENSEMBL: ENSMUSP00000069578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026243] [ENSMUST00000070215]
AlphaFold Q9CPP0
Predicted Effect probably benign
Transcript: ENSMUST00000026243
SMART Domains Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220

DomainStartEndE-ValueType
low complexity region 44 57 N/A INTRINSIC
Pfam:NAGidase 62 361 2.5e-84 PFAM
low complexity region 453 458 N/A INTRINSIC
PDB:4BMH|A 700 915 1e-13 PDB
SCOP:d1cjwa_ 715 916 1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000070215
AA Change: T72A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000069578
Gene: ENSMUSG00000056209
AA Change: T72A

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
low complexity region 17 32 N/A INTRINSIC
Pfam:Nucleoplasmin 35 170 2.2e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144165
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 related to the nuclear chaperone phosphoproteins, nucleoplasmin and nucleophosmin. This protein is strongly expressed in diverse cell types where it localizes primarily to the nucleus. Based on its similarity to nucleoplasmin and nucleophosmin, this protein likely functions as a molecular chaperone in the cell nucleus. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,950,772 (GRCm39) Y898H probably damaging Het
Abr T C 11: 76,346,471 (GRCm39) T484A probably damaging Het
Ahsg G A 16: 22,711,060 (GRCm39) V66I possibly damaging Het
Arhgef5 T G 6: 43,252,064 (GRCm39) D938E probably benign Het
Asap1 T A 15: 63,993,882 (GRCm39) E731V probably damaging Het
Cdca2 C T 14: 67,950,589 (GRCm39) R114Q probably damaging Het
Dock5 A G 14: 68,065,899 (GRCm39) I368T probably benign Het
Dse T A 10: 34,028,433 (GRCm39) M886L probably benign Het
Efcab11 A G 12: 99,820,861 (GRCm39) probably benign Het
Eri2 G A 7: 119,385,158 (GRCm39) P448S probably benign Het
Iffo1 A G 6: 125,122,329 (GRCm39) D37G possibly damaging Het
Lrrc39 A T 3: 116,371,923 (GRCm39) Q230L probably damaging Het
Macrod2 C A 2: 142,216,196 (GRCm39) S443Y possibly damaging Het
Map4 T A 9: 109,807,938 (GRCm39) M1K probably null Het
Misfa T C 7: 46,633,572 (GRCm39) probably benign Het
Myh4 G A 11: 67,142,760 (GRCm39) A974T possibly damaging Het
Or14j1 T C 17: 38,146,415 (GRCm39) F175S probably damaging Het
P3h4 T C 11: 100,304,901 (GRCm39) N162S probably damaging Het
Pcnx2 G T 8: 126,478,894 (GRCm39) T2118N probably benign Het
Pla2r1 G T 2: 60,258,932 (GRCm39) P1152Q possibly damaging Het
Pole2 C T 12: 69,269,936 (GRCm39) E63K possibly damaging Het
Polr3e T A 7: 120,531,363 (GRCm39) F151I probably damaging Het
Prdm2 T C 4: 142,862,313 (GRCm39) T326A probably benign Het
Prdm8 G T 5: 98,331,324 (GRCm39) A59S possibly damaging Het
Reps1 A G 10: 17,994,770 (GRCm39) N538S probably damaging Het
Scube1 T C 15: 83,587,741 (GRCm39) D76G probably damaging Het
Senp6 T C 9: 80,021,225 (GRCm39) F302L probably damaging Het
Skic2 A T 17: 35,060,651 (GRCm39) I822N probably damaging Het
Slc17a7 T C 7: 44,820,367 (GRCm39) I299T probably damaging Het
Slc25a26 T A 6: 94,484,520 (GRCm39) V20E probably damaging Het
Spem2 T C 11: 69,708,089 (GRCm39) probably null Het
Stat5b A C 11: 100,695,739 (GRCm39) F81C probably damaging Het
Taf6 A T 5: 138,179,169 (GRCm39) V423E probably damaging Het
Tcaf2 T A 6: 42,606,020 (GRCm39) Y551F probably damaging Het
Tgm6 A T 2: 129,977,790 (GRCm39) D43V probably benign Het
Tubb3 G T 8: 124,147,603 (GRCm39) V179L probably damaging Het
Ubr1 G A 2: 120,776,830 (GRCm39) H304Y probably benign Het
Vmn2r56 T G 7: 12,449,408 (GRCm39) M277L probably benign Het
Wdr72 G A 9: 74,064,581 (GRCm39) V538M probably damaging Het
Other mutations in Npm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0329:Npm3 UTSW 19 45,737,965 (GRCm39) missense probably benign 0.06
R0375:Npm3 UTSW 19 45,736,668 (GRCm39) missense probably damaging 1.00
R4044:Npm3 UTSW 19 45,736,692 (GRCm39) missense possibly damaging 0.90
R5810:Npm3 UTSW 19 45,736,644 (GRCm39) missense possibly damaging 0.74
R7049:Npm3 UTSW 19 45,737,994 (GRCm39) start codon destroyed probably null 0.02
R8032:Npm3 UTSW 19 45,736,682 (GRCm39) missense probably benign
R9187:Npm3 UTSW 19 45,737,941 (GRCm39) nonsense probably null
Posted On 2015-04-16