Incidental Mutation 'IGL00088:Nup58'
ID 953
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup58
Ensembl Gene ENSMUSG00000063895
Gene Name nucleoporin 58
Synonyms Nupl1, 1700017F11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # IGL00088
Quality Score
Status
Chromosome 14
Chromosomal Location 60442733-60488951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 60480026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 207 (I207L)
Ref Sequence ENSEMBL: ENSMUSP00000153642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041905] [ENSMUST00000225111] [ENSMUST00000225311] [ENSMUST00000225805]
AlphaFold Q8R332
Predicted Effect probably benign
Transcript: ENSMUST00000041905
AA Change: I207L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000038716
Gene: ENSMUSG00000114797
AA Change: I207L

DomainStartEndE-ValueType
Pfam:Nucleoporin_FG2 3 587 1.5e-299 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224575
Predicted Effect probably benign
Transcript: ENSMUST00000225111
AA Change: I207L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000225311
AA Change: I207L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225572
Predicted Effect probably benign
Transcript: ENSMUST00000225805
AA Change: I207L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
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 member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 A G 18: 36,798,512 (GRCm39) probably benign Het
Anpep A G 7: 79,475,484 (GRCm39) V879A possibly damaging Het
Asb13 T G 13: 3,693,476 (GRCm39) V78G probably null Het
Atad2b A G 12: 5,074,593 (GRCm39) R1051G probably damaging Het
Bdp1 T C 13: 100,235,018 (GRCm39) Y192C probably damaging Het
C1ql2 G T 1: 120,269,399 (GRCm39) G185C probably damaging Het
Catsperg2 A G 7: 29,404,829 (GRCm39) S745P possibly damaging Het
Col19a1 A T 1: 24,600,387 (GRCm39) S52T unknown Het
Col4a2 G T 8: 11,493,685 (GRCm39) G1418V probably damaging Het
Crnkl1 C T 2: 145,760,388 (GRCm39) D677N possibly damaging Het
Cyp2j8 T A 4: 96,392,079 (GRCm39) N125I probably benign Het
Cyp2t4 A T 7: 26,854,723 (GRCm39) M68L probably benign Het
Dclk2 T A 3: 86,706,397 (GRCm39) probably null Het
Dmxl2 T C 9: 54,308,988 (GRCm39) D1921G probably benign Het
Dnah10 G A 5: 124,905,667 (GRCm39) G4104S probably damaging Het
Echdc2 T C 4: 108,036,108 (GRCm39) I273T probably damaging Het
Extl1 T C 4: 134,085,330 (GRCm39) K596E probably damaging Het
Fads3 A T 19: 10,029,663 (GRCm39) D108V probably null Het
Fam135b A G 15: 71,322,343 (GRCm39) L1274P probably damaging Het
Fat1 T A 8: 45,477,639 (GRCm39) H2228Q possibly damaging Het
Gcc2 C T 10: 58,128,502 (GRCm39) H1341Y probably damaging Het
Gls2 A G 10: 128,036,840 (GRCm39) probably null Het
Gpr137 A C 19: 6,917,072 (GRCm39) V139G probably damaging Het
Ikbke A G 1: 131,197,749 (GRCm39) probably null Het
Irak2 A T 6: 113,655,636 (GRCm39) N285Y probably benign Het
Kcnu1 G A 8: 26,387,884 (GRCm39) C566Y probably benign Het
Klhl29 G A 12: 5,190,705 (GRCm39) P97S probably benign Het
Lama4 T C 10: 38,941,591 (GRCm39) probably benign Het
Lhx6 G A 2: 35,981,728 (GRCm39) probably benign Het
Mdn1 T C 4: 32,723,651 (GRCm39) L2529P probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Naa15 T A 3: 51,345,826 (GRCm39) V19D probably damaging Het
Ncbp3 A T 11: 72,964,355 (GRCm39) probably benign Het
Nckipsd G A 9: 108,692,168 (GRCm39) V530I probably benign Het
Neb A G 2: 52,198,759 (GRCm39) I394T possibly damaging Het
Nnmt A T 9: 48,503,224 (GRCm39) probably benign Het
Or14j2 A T 17: 37,885,808 (GRCm39) C169S probably damaging Het
Or5ae1 T A 7: 84,565,578 (GRCm39) M197K probably damaging Het
Or5k16 C T 16: 58,736,213 (GRCm39) E264K probably benign Het
Otud4 T A 8: 80,399,510 (GRCm39) N741K probably damaging Het
Pard6a T A 8: 106,429,833 (GRCm39) C264S probably benign Het
Plch2 T C 4: 155,091,099 (GRCm39) N276S probably damaging Het
Pramel31 T A 4: 144,089,100 (GRCm39) H139Q possibly damaging Het
Pramel32 T A 4: 88,547,307 (GRCm39) K121N probably benign Het
Racgap1 T C 15: 99,534,003 (GRCm39) probably benign Het
Rad51d T C 11: 82,780,572 (GRCm39) D70G probably damaging Het
Recql4 C T 15: 76,591,536 (GRCm39) A484T possibly damaging Het
Reg3g A T 6: 78,443,762 (GRCm39) S149T probably benign Het
Rpl13a C A 7: 44,776,495 (GRCm39) probably null Het
Scn10a T C 9: 119,501,292 (GRCm39) Y164C probably damaging Het
Scn2a A G 2: 65,594,784 (GRCm39) I1878V probably benign Het
Sgcg T A 14: 61,477,796 (GRCm39) R98* probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tas2r140 A T 6: 40,468,274 (GRCm39) I35F probably benign Het
Tex19.2 A G 11: 121,007,638 (GRCm39) F270S possibly damaging Het
Traip C T 9: 107,847,749 (GRCm39) R391W probably benign Het
Trim7 A G 11: 48,736,398 (GRCm39) N251D probably damaging Het
Trmt2a T A 16: 18,067,351 (GRCm39) V8D probably benign Het
Tut7 T C 13: 59,964,512 (GRCm39) E221G probably damaging Het
Ubr3 A C 2: 69,819,154 (GRCm39) I9L probably benign Het
Usp42 A G 5: 143,702,897 (GRCm39) S575P probably benign Het
Vmn2r52 G T 7: 9,903,023 (GRCm39) H468Q probably benign Het
Vmn2r59 T A 7: 41,661,488 (GRCm39) T776S possibly damaging Het
Other mutations in Nup58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Nup58 APN 14 60,475,969 (GRCm39) missense probably benign 0.10
IGL00725:Nup58 APN 14 60,480,889 (GRCm39) missense possibly damaging 0.84
IGL00969:Nup58 APN 14 60,466,365 (GRCm39) splice site probably benign
IGL03243:Nup58 APN 14 60,459,065 (GRCm39) missense probably benign 0.06
IGL03351:Nup58 APN 14 60,466,224 (GRCm39) missense probably benign 0.19
R0056:Nup58 UTSW 14 60,476,924 (GRCm39) splice site probably null
R0113:Nup58 UTSW 14 60,488,740 (GRCm39) start gained probably benign
R0201:Nup58 UTSW 14 60,482,065 (GRCm39) missense probably benign 0.32
R0830:Nup58 UTSW 14 60,480,931 (GRCm39) missense probably damaging 1.00
R0925:Nup58 UTSW 14 60,457,590 (GRCm39) missense probably damaging 0.99
R1004:Nup58 UTSW 14 60,484,930 (GRCm39) splice site probably benign
R1178:Nup58 UTSW 14 60,482,119 (GRCm39) splice site probably benign
R1181:Nup58 UTSW 14 60,482,119 (GRCm39) splice site probably benign
R1268:Nup58 UTSW 14 60,482,119 (GRCm39) splice site probably benign
R1388:Nup58 UTSW 14 60,482,119 (GRCm39) splice site probably benign
R1411:Nup58 UTSW 14 60,482,119 (GRCm39) splice site probably benign
R1442:Nup58 UTSW 14 60,469,992 (GRCm39) splice site probably benign
R1626:Nup58 UTSW 14 60,480,076 (GRCm39) nonsense probably null
R1697:Nup58 UTSW 14 60,482,119 (GRCm39) splice site probably benign
R1756:Nup58 UTSW 14 60,482,119 (GRCm39) splice site probably benign
R1853:Nup58 UTSW 14 60,481,996 (GRCm39) missense possibly damaging 0.81
R1915:Nup58 UTSW 14 60,475,980 (GRCm39) missense probably benign 0.00
R2160:Nup58 UTSW 14 60,476,957 (GRCm39) missense probably benign 0.15
R2211:Nup58 UTSW 14 60,470,089 (GRCm39) missense probably damaging 0.99
R2213:Nup58 UTSW 14 60,476,945 (GRCm39) missense probably benign 0.01
R2518:Nup58 UTSW 14 60,470,109 (GRCm39) missense probably damaging 1.00
R2519:Nup58 UTSW 14 60,460,808 (GRCm39) missense probably benign 0.23
R3914:Nup58 UTSW 14 60,469,596 (GRCm39) missense possibly damaging 0.76
R4302:Nup58 UTSW 14 60,484,875 (GRCm39) missense probably benign 0.44
R4626:Nup58 UTSW 14 60,476,004 (GRCm39) missense probably benign 0.24
R4705:Nup58 UTSW 14 60,488,664 (GRCm39) missense unknown
R4772:Nup58 UTSW 14 60,457,471 (GRCm39) missense probably benign 0.00
R6151:Nup58 UTSW 14 60,482,065 (GRCm39) missense possibly damaging 0.71
R6187:Nup58 UTSW 14 60,478,256 (GRCm39) splice site probably null
R6546:Nup58 UTSW 14 60,460,672 (GRCm39) splice site probably null
Posted On 2011-07-12