Incidental Mutation 'R0925:Nup58'
ID 83162
Institutional Source Beutler Lab
Gene Symbol Nup58
Ensembl Gene ENSMUSG00000063895
Gene Name nucleoporin 58
Synonyms Nupl1, 1700017F11Rik
MMRRC Submission 039072-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R0925 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 60442733-60488951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60457590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 538 (T538A)
Ref Sequence ENSEMBL: ENSMUSP00000038716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041905] [ENSMUST00000225111] [ENSMUST00000225311] [ENSMUST00000225805]
AlphaFold Q8R332
Predicted Effect probably damaging
Transcript: ENSMUST00000041905
AA Change: T538A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038716
Gene: ENSMUSG00000114797
AA Change: T538A

DomainStartEndE-ValueType
Pfam:Nucleoporin_FG2 3 587 1.5e-299 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223713
Predicted Effect probably benign
Transcript: ENSMUST00000225111
Predicted Effect probably benign
Transcript: ENSMUST00000225311
Predicted Effect probably benign
Transcript: ENSMUST00000225805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225931
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.7%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T C 8: 44,079,340 (GRCm39) I295V probably benign Het
Adam5 T C 8: 25,302,441 (GRCm39) Q101R probably benign Het
C2cd4c T C 10: 79,448,584 (GRCm39) N188D probably benign Het
Cdc27 A G 11: 104,416,875 (GRCm39) probably null Het
Cdh11 T A 8: 103,361,356 (GRCm39) I661L probably damaging Het
Cimip1 T A 2: 173,367,867 (GRCm39) S47T probably benign Het
Csmd1 A G 8: 16,760,634 (GRCm39) I167T probably benign Het
Dennd3 T G 15: 73,405,284 (GRCm39) F346V probably damaging Het
Dis3l A T 9: 64,248,412 (GRCm39) M1K probably null Het
Dnajb6 A T 5: 29,957,398 (GRCm39) K60I probably damaging Het
Dock10 T A 1: 80,514,657 (GRCm39) H1421L probably benign Het
Elmod3 A T 6: 72,545,921 (GRCm39) C274S probably damaging Het
Eme1 T C 11: 94,541,558 (GRCm39) E88G probably damaging Het
Fam227a A T 15: 79,505,006 (GRCm39) M475K probably benign Het
Frem2 T C 3: 53,561,394 (GRCm39) I1038V probably benign Het
Gabpb1 T A 2: 126,494,185 (GRCm39) N147Y probably damaging Het
Gmnc A G 16: 26,779,173 (GRCm39) L278P probably benign Het
Gpr153 A G 4: 152,366,331 (GRCm39) T299A probably benign Het
H2-M11 T C 17: 36,858,353 (GRCm39) V49A probably benign Het
Hemgn T A 4: 46,397,049 (GRCm39) K62N probably damaging Het
Hormad2 G A 11: 4,377,297 (GRCm39) T47M probably damaging Het
Iqcf6 A G 9: 106,504,500 (GRCm39) T55A probably benign Het
Itgam T C 7: 127,711,410 (GRCm39) F705L probably benign Het
Klk1 T A 7: 43,878,240 (GRCm39) probably null Het
Myo1f A T 17: 33,797,107 (GRCm39) I123F probably damaging Het
Or52j3 T A 7: 102,836,030 (GRCm39) L74* probably null Het
Or5p81 C T 7: 108,267,400 (GRCm39) T259I probably benign Het
Pdzd2 C T 15: 12,399,356 (GRCm39) R790H probably damaging Het
Pigv T C 4: 133,389,960 (GRCm39) K74R probably benign Het
Prmt8 T C 6: 127,674,776 (GRCm39) K284R probably benign Het
Rsl1d1 A T 16: 11,017,553 (GRCm39) Y138N probably damaging Het
Scara5 AC ACC 14: 66,000,167 (GRCm39) probably benign Het
Smc4 T A 3: 68,913,548 (GRCm39) probably benign Het
Spta1 G A 1: 174,001,992 (GRCm39) V41I possibly damaging Het
Tdrd7 C A 4: 46,025,758 (GRCm39) N859K probably damaging Het
Vps13d T G 4: 144,883,121 (GRCm39) D824A probably damaging Het
Wdfy2 A T 14: 63,167,675 (GRCm39) probably null Het
Other mutations in Nup58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Nup58 APN 14 60,480,026 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- ATCATAGAATGAGCGGCAGCCAGC -3'
(R):5'- GCCCAGATGCCTTGAGTGTGTTTTC -3'

Sequencing Primer
(F):5'- GGCAGCCAGCTAAGCAC -3'
(R):5'- CAGACAAAGTTTCTGGTAGCTTG -3'
Posted On 2013-11-08