Incidental Mutation 'IGL00939:Nup50'
ID29068
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup50
Ensembl Gene ENSMUSG00000016619
Gene Namenucleoporin 50
Synonyms1700030K07Rik, Npap60
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00939
Quality Score
Status
Chromosome15
Chromosomal Location84923411-84942963 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to G at 84938420 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 381 (L381*)
Ref Sequence ENSEMBL: ENSMUSP00000155656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165443] [ENSMUST00000230411]
Predicted Effect probably null
Transcript: ENSMUST00000165443
AA Change: L381*
SMART Domains Protein: ENSMUSP00000131457
Gene: ENSMUSG00000016619
AA Change: L381*

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 null
Transcript: ENSMUST00000230411
AA Change: L381*
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C A 5: 35,824,015 probably benign Het
Ash1l T C 3: 89,035,236 V2061A probably damaging Het
Csnk1a1 A G 18: 61,575,450 D194G probably damaging Het
Dopey2 T A 16: 93,774,083 S1657T possibly damaging Het
Hcn4 A G 9: 58,843,927 I279V probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lamb1 T C 12: 31,302,927 S828P probably damaging Het
Morc1 G A 16: 48,452,589 C193Y probably damaging Het
Nudt16l1 T C 16: 4,939,435 F71L probably benign Het
Pccb A G 9: 100,985,869 S372P probably damaging Het
Rnf19b A G 4: 129,071,789 R227G probably damaging Het
Ror1 A G 4: 100,441,226 I599V probably benign Het
Sipa1l2 A G 8: 125,464,435 probably benign Het
Sowahb A T 5: 93,043,842 D339E probably benign Het
Ssc5d C T 7: 4,936,281 T572I possibly damaging Het
Tnn A G 1: 160,147,530 L109P probably damaging Het
Ttn T C 2: 76,710,081 Q34187R possibly damaging Het
Ube2j2 A G 4: 155,956,447 E177G possibly damaging Het
Vmn2r103 A G 17: 19,794,965 T456A probably benign Het
Wdr1 T C 5: 38,535,323 T80A probably benign Het
Other mutations in Nup50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Nup50 APN 15 84935404 missense probably benign 0.33
R1483:Nup50 UTSW 15 84939727 missense probably damaging 1.00
R1545:Nup50 UTSW 15 84939792 missense possibly damaging 0.51
R2504:Nup50 UTSW 15 84933658 missense probably benign 0.00
R3005:Nup50 UTSW 15 84929460 splice site probably null
R3690:Nup50 UTSW 15 84939793 missense probably damaging 1.00
R4851:Nup50 UTSW 15 84939711 missense probably benign 0.03
R5902:Nup50 UTSW 15 84935440 missense probably benign 0.00
R7205:Nup50 UTSW 15 84933658 missense probably benign 0.00
R8350:Nup50 UTSW 15 84935275 missense probably benign 0.01
R8450:Nup50 UTSW 15 84935275 missense probably benign 0.01
Posted On2013-04-17