Incidental Mutation 'IGL00091:Nup50'
ID 896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup50
Ensembl Gene ENSMUSG00000016619
Gene Name nucleoporin 50
Synonyms Npap60, 1700030K07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00091
Quality Score
Status
Chromosome 15
Chromosomal Location 84807612-84827164 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84819605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 293 (F293Y)
Ref Sequence ENSEMBL: ENSMUSP00000155656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165443] [ENSMUST00000230411]
AlphaFold Q9JIH2
Predicted Effect probably benign
Transcript: ENSMUST00000165443
AA Change: F293Y

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131457
Gene: ENSMUSG00000016619
AA Change: F293Y

DomainStartEndE-ValueType
Pfam:NUP50 2 80 1.2e-22 PFAM
low complexity region 277 302 N/A INTRINSIC
RanBD 340 463 4.83e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000230411
AA Change: F293Y

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation die perinatally, displaying neural tube defects, exencephaly, and intrauterine growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,485,157 (GRCm39) Y400F probably benign Het
Adamts8 C A 9: 30,864,796 (GRCm39) T429K probably damaging Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Ano7 A T 1: 93,329,888 (GRCm39) H775L probably benign Het
Apoo-ps A T 13: 107,551,134 (GRCm39) noncoding transcript Het
Arid2 T C 15: 96,270,183 (GRCm39) V1432A probably benign Het
Atoh1 T C 6: 64,706,568 (GRCm39) S88P possibly damaging Het
C130050O18Rik A G 5: 139,400,601 (GRCm39) E218G probably damaging Het
Cacna2d1 T A 5: 16,417,942 (GRCm39) F155L probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Cyp1a2 G T 9: 57,589,352 (GRCm39) S154* probably null Het
Cyp3a25 A T 5: 145,938,273 (GRCm39) Y68* probably null Het
Dmbt1 C A 7: 130,681,270 (GRCm39) probably benign Het
Dnajc22 T A 15: 98,999,059 (GRCm39) F81L possibly damaging Het
Eml5 G A 12: 98,839,468 (GRCm39) probably benign Het
Fpgs A T 2: 32,576,559 (GRCm39) probably benign Het
Gab2 T C 7: 96,951,650 (GRCm39) S537P possibly damaging Het
Gmds G A 13: 32,418,373 (GRCm39) S37L probably damaging Het
Ipo13 T C 4: 117,760,602 (GRCm39) E626G probably benign Het
Kcng1 T C 2: 168,110,684 (GRCm39) H160R probably benign Het
Lama3 A G 18: 12,713,349 (GRCm39) T1608A probably benign Het
Lama4 A C 10: 38,948,801 (GRCm39) S855R probably damaging Het
Ltbp1 C T 17: 75,532,333 (GRCm39) H454Y probably damaging Het
Map3k14 C A 11: 103,118,405 (GRCm39) G594C probably damaging Het
Mcph1 A G 8: 18,682,636 (GRCm39) N591S possibly damaging Het
Moxd1 G A 10: 24,155,762 (GRCm39) V289I probably damaging Het
Mptx2 T G 1: 173,102,455 (GRCm39) N78T probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Ogn A G 13: 49,774,514 (GRCm39) Y219C probably damaging Het
Pdia3 T C 2: 121,244,659 (GRCm39) L47P probably damaging Het
Piwil4 A T 9: 14,614,393 (GRCm39) D786E probably damaging Het
Pspc1 A G 14: 57,009,168 (GRCm39) L222P probably damaging Het
Ptchd3 T A 11: 121,721,972 (GRCm39) Y282N probably damaging Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Serpini2 T C 3: 75,156,549 (GRCm39) Y327C probably damaging Het
Spire2 A G 8: 124,080,798 (GRCm39) D14G probably damaging Het
Stab2 A T 10: 86,705,070 (GRCm39) probably null Het
Timeless T C 10: 128,077,577 (GRCm39) L219P probably damaging Het
Tmem63a C T 1: 180,790,653 (GRCm39) T437M probably damaging Het
Tslp A G 18: 32,948,448 (GRCm39) probably benign Het
Ttbk2 C A 2: 120,579,314 (GRCm39) G534* probably null Het
Uggt1 T C 1: 36,218,633 (GRCm39) probably benign Het
Vmn2r118 T C 17: 55,899,708 (GRCm39) E732G probably damaging Het
Zfhx2 G A 14: 55,304,022 (GRCm39) P1321S possibly damaging Het
Zfp58 A G 13: 67,639,114 (GRCm39) V459A probably benign Het
Zfp831 T C 2: 174,487,451 (GRCm39) S709P possibly damaging Het
Other mutations in Nup50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00939:Nup50 APN 15 84,822,621 (GRCm39) nonsense probably null
R1483:Nup50 UTSW 15 84,823,928 (GRCm39) missense probably damaging 1.00
R1545:Nup50 UTSW 15 84,823,993 (GRCm39) missense possibly damaging 0.51
R2504:Nup50 UTSW 15 84,817,859 (GRCm39) missense probably benign 0.00
R3005:Nup50 UTSW 15 84,813,661 (GRCm39) splice site probably null
R3690:Nup50 UTSW 15 84,823,994 (GRCm39) missense probably damaging 1.00
R4851:Nup50 UTSW 15 84,823,912 (GRCm39) missense probably benign 0.03
R5902:Nup50 UTSW 15 84,819,641 (GRCm39) missense probably benign 0.00
R7205:Nup50 UTSW 15 84,817,859 (GRCm39) missense probably benign 0.00
R8350:Nup50 UTSW 15 84,819,476 (GRCm39) missense probably benign 0.01
R8450:Nup50 UTSW 15 84,819,476 (GRCm39) missense probably benign 0.01
R9241:Nup50 UTSW 15 84,822,611 (GRCm39) missense possibly damaging 0.53
R9677:Nup50 UTSW 15 84,819,479 (GRCm39) missense possibly damaging 0.72
R9706:Nup50 UTSW 15 84,811,648 (GRCm39) critical splice donor site probably null
Posted On 2011-07-12