Incidental Mutation 'R2213:Nup58'
ID 239550
Institutional Source Beutler Lab
Gene Symbol Nup58
Ensembl Gene ENSMUSG00000063895
Gene Name nucleoporin 58
Synonyms Nupl1, 1700017F11Rik
MMRRC Submission 040215-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R2213 (G1)
Quality Score 175
Status Not validated
Chromosome 14
Chromosomal Location 60442733-60488951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60476945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 242 (D242G)
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: D242G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000038716
Gene: ENSMUSG00000114797
AA Change: D242G

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: D242G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000225311
AA Change: D242G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225572
Predicted Effect probably benign
Transcript: ENSMUST00000225805
AA Change: D242G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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
Akr1c12 T C 13: 4,326,247 (GRCm39) D78G probably damaging Het
Anxa1 C T 19: 20,360,239 (GRCm39) R124H probably damaging Het
Arhgef4 G A 1: 34,846,230 (GRCm39) probably null Het
C87436 G A 6: 86,422,455 (GRCm39) V10I probably benign Het
Ces1a G T 8: 93,751,853 (GRCm39) P427Q probably damaging Het
Cpm T C 10: 117,495,744 (GRCm39) Y78H probably damaging Het
Csmd3 G A 15: 47,683,843 (GRCm39) T1663I possibly damaging Het
Cul7 T C 17: 46,962,398 (GRCm39) F10L probably damaging Het
Cyp2j5 T C 4: 96,547,852 (GRCm39) N130S probably benign Het
Dclk1 G A 3: 55,387,854 (GRCm39) C100Y probably damaging Het
Ddb1 T C 19: 10,585,691 (GRCm39) L135P probably damaging Het
Dixdc1 A G 9: 50,613,245 (GRCm39) S211P probably benign Het
Dnah12 G T 14: 26,460,485 (GRCm39) K970N probably benign Het
Eps15 A G 4: 109,218,417 (GRCm39) K391E probably damaging Het
Fabp9 A G 3: 10,259,860 (GRCm39) V51A probably damaging Het
Flg T C 3: 93,200,335 (GRCm39) probably benign Het
Flnb AAGGAG AAG 14: 7,881,652 (GRCm38) probably benign Het
Fscb A T 12: 64,520,890 (GRCm39) I192N possibly damaging Het
Galntl5 A G 5: 25,422,527 (GRCm39) I333V probably benign Het
Gcnt3 A T 9: 69,941,989 (GRCm39) V193E probably benign Het
Gle1 T C 2: 29,839,313 (GRCm39) F535S probably damaging Het
Gpr87 A T 3: 59,086,465 (GRCm39) S347T probably damaging Het
Gstm2 C T 3: 107,893,409 (GRCm39) R18H probably damaging Het
H1f7 T A 15: 98,154,219 (GRCm39) Q310L unknown Het
Haus6 C T 4: 86,500,229 (GRCm39) E927K possibly damaging Het
Hunk A G 16: 90,229,505 (GRCm39) N122S probably damaging Het
Itih4 T A 14: 30,612,670 (GRCm39) V232E probably damaging Het
Jag1 G T 2: 136,931,812 (GRCm39) D586E probably benign Het
Klk1b1 T C 7: 43,619,905 (GRCm39) S155P probably damaging Het
Lama1 G T 17: 68,084,029 (GRCm39) G1424* probably null Het
Lrp1 T A 10: 127,376,571 (GRCm39) N4279I probably damaging Het
Lrrc43 G A 5: 123,641,640 (GRCm39) V525I possibly damaging Het
Lrrc4c G A 2: 97,460,816 (GRCm39) V481M probably benign Het
Mecr T A 4: 131,581,126 (GRCm39) probably null Het
Megf10 T A 18: 57,421,081 (GRCm39) Y906* probably null Het
Mpdz A G 4: 81,228,409 (GRCm39) F1319L probably damaging Het
Mtf2 A G 5: 108,248,780 (GRCm39) E364G possibly damaging Het
Nelfe T A 17: 35,072,859 (GRCm39) D160E probably benign Het
Nin A G 12: 70,092,128 (GRCm39) L727P probably damaging Het
Npat A G 9: 53,463,681 (GRCm39) T155A probably benign Het
Or4a78 A T 2: 89,497,891 (GRCm39) L113Q probably damaging Het
Pnlip T C 19: 58,662,202 (GRCm39) V116A probably benign Het
Prl7a2 T A 13: 27,849,051 (GRCm39) L79F probably benign Het
Rbm25 A T 12: 83,722,856 (GRCm39) I760L probably benign Het
Rbms3 A T 9: 116,788,534 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rps10 C A 17: 27,849,473 (GRCm39) probably benign Het
Slc35e4 T C 11: 3,863,159 (GRCm39) E10G possibly damaging Het
Smad2 A T 18: 76,437,697 (GRCm39) T434S probably damaging Het
Sox30 C T 11: 45,875,679 (GRCm39) S477F probably damaging Het
Speer4a3 G T 5: 26,158,175 (GRCm39) T59K probably benign Het
Stat4 A T 1: 52,053,014 (GRCm39) D65V probably damaging Het
Strip2 A G 6: 29,931,147 (GRCm39) D366G probably damaging Het
Syngap1 C A 17: 27,172,043 (GRCm39) R84S probably damaging Het
Synpo2l A G 14: 20,710,734 (GRCm39) Y629H probably damaging Het
Taf4 A T 2: 179,577,683 (GRCm39) probably null Het
Ttc21a A G 9: 119,769,527 (GRCm39) H68R probably benign Het
Txndc8 T A 4: 57,984,199 (GRCm39) Q144L probably benign Het
Tyr T G 7: 87,142,086 (GRCm39) Q158P probably damaging Het
Uchl3 T A 14: 101,904,106 (GRCm39) probably null Het
Vwa5b1 T C 4: 138,332,123 (GRCm39) K298R probably benign Het
Wrn T C 8: 33,747,043 (GRCm39) N891S probably benign Het
Ylpm1 A G 12: 85,116,492 (GRCm39) S2125G probably benign 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
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
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'- GGTCATGGTGTAAAATTTGAAAACTT -3'
(R):5'- TCTTTGGTAAGAAATATTGGTGTCAA -3'

Sequencing Primer
(F):5'- GAACTCTATTTGTACACCAGGCTGG -3'
(R):5'- CAGTTCTTAAGCTCCGGAT -3'
Posted On 2014-10-15