Incidental Mutation 'R6003:Nup54'
ID 478457
Institutional Source Beutler Lab
Gene Symbol Nup54
Ensembl Gene ENSMUSG00000034826
Gene Name nucleoporin 54
Synonyms 3110079L04Rik, 54kDa
MMRRC Submission 043252-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R6003 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 92563399-92583078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92570853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 318 (D318E)
Ref Sequence ENSEMBL: ENSMUSP00000046540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038514]
AlphaFold Q8BTS4
Predicted Effect probably damaging
Transcript: ENSMUST00000038514
AA Change: D318E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000046540
Gene: ENSMUSG00000034826
AA Change: D318E

DomainStartEndE-ValueType
low complexity region 5 109 N/A INTRINSIC
Pfam:Nup54 303 441 4.8e-49 PFAM
PDB:3T98|C 445 494 2e-26 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201228
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,312 (GRCm39) E157G probably benign Het
Abcb11 T C 2: 69,073,811 (GRCm39) K1238R probably benign Het
Ankar T A 1: 72,738,046 (GRCm39) E45D probably damaging Het
Antxrl G T 14: 33,797,592 (GRCm39) K522N possibly damaging Het
Ap1m1 A G 8: 73,003,011 (GRCm39) Y93C probably damaging Het
As3mt C T 19: 46,696,567 (GRCm39) T35M possibly damaging Het
Aspg T C 12: 112,079,476 (GRCm39) S85P probably damaging Het
Cachd1 T C 4: 100,809,216 (GRCm39) S234P possibly damaging Het
Ccdc3 T C 2: 5,146,218 (GRCm39) probably null Het
Cnpy1 T C 5: 28,450,759 (GRCm39) T16A probably benign Het
Cope T C 8: 70,757,285 (GRCm39) L43P probably benign Het
E2f8 T C 7: 48,520,525 (GRCm39) M599V probably benign Het
Eif3a A T 19: 60,755,319 (GRCm39) D954E unknown Het
Gfpt1 T A 6: 87,065,230 (GRCm39) probably null Het
Ggps1 T G 13: 14,228,587 (GRCm39) S145R probably benign Het
Gon4l A G 3: 88,803,400 (GRCm39) D1337G probably damaging Het
Gtf2a1l G T 17: 89,001,531 (GRCm39) G82V probably damaging Het
Gucy1b1 C A 3: 81,965,584 (GRCm39) L87F probably damaging Het
Hoxc9 T C 15: 102,890,311 (GRCm39) V76A probably benign Het
Ints2 T C 11: 86,129,294 (GRCm39) E460G probably damaging Het
Kdm4b C T 17: 56,703,916 (GRCm39) R756W probably damaging Het
Lax1 T A 1: 133,611,834 (GRCm39) I34F probably benign Het
Marveld3 A T 8: 110,680,960 (GRCm39) C312S probably damaging Het
Ncoa2 T C 1: 13,237,254 (GRCm39) D824G possibly damaging Het
Nrxn2 C A 19: 6,548,358 (GRCm39) A17D possibly damaging Het
Nup133 A T 8: 124,665,031 (GRCm39) I220N probably damaging Het
Nup205 T C 6: 35,189,751 (GRCm39) V984A probably benign Het
Obp2a A T 2: 25,591,151 (GRCm39) K94N probably damaging Het
Or2ak5 A T 11: 58,611,196 (GRCm39) I226N probably benign Het
Or5b3 T C 19: 13,388,403 (GRCm39) S157P probably benign Het
Pappa2 T C 1: 158,763,820 (GRCm39) I564V probably benign Het
Parpbp A G 10: 87,969,020 (GRCm39) V142A possibly damaging Het
Rdh16f2 A T 10: 127,712,201 (GRCm39) R219S probably benign Het
Rfx6 C T 10: 51,584,683 (GRCm39) R228C probably damaging Het
Rpap2 A G 5: 107,749,767 (GRCm39) probably null Het
Rskr T G 11: 78,183,846 (GRCm39) probably null Het
Slc15a2 T C 16: 36,574,910 (GRCm39) I531V probably benign Het
Srebf1 T C 11: 60,097,930 (GRCm39) E58G possibly damaging Het
Tmem214 C A 5: 31,028,068 (GRCm39) T96K possibly damaging Het
Usp19 T C 9: 108,373,579 (GRCm39) Y691H probably damaging Het
Vmn1r86 C T 7: 12,836,125 (GRCm39) W200* probably null Het
Vmn2r8 A T 5: 108,945,248 (GRCm39) S786R probably damaging Het
Vps52 T A 17: 34,175,068 (GRCm39) M1K probably null Het
Zzef1 T A 11: 72,714,891 (GRCm39) probably null Het
Other mutations in Nup54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Nup54 APN 5 92,565,344 (GRCm39) missense probably benign 0.00
IGL01526:Nup54 APN 5 92,565,334 (GRCm39) missense probably benign 0.12
IGL01924:Nup54 APN 5 92,572,294 (GRCm39) missense probably benign 0.02
IGL02248:Nup54 APN 5 92,576,188 (GRCm39) splice site probably null
IGL02253:Nup54 APN 5 92,565,310 (GRCm39) critical splice donor site probably null
IGL02508:Nup54 APN 5 92,565,398 (GRCm39) nonsense probably null
IGL02721:Nup54 APN 5 92,565,716 (GRCm39) missense possibly damaging 0.96
IGL03150:Nup54 APN 5 92,576,023 (GRCm39) missense probably damaging 1.00
R0189:Nup54 UTSW 5 92,570,423 (GRCm39) missense probably damaging 1.00
R1401:Nup54 UTSW 5 92,576,080 (GRCm39) missense probably damaging 1.00
R1862:Nup54 UTSW 5 92,567,426 (GRCm39) missense possibly damaging 0.75
R3938:Nup54 UTSW 5 92,565,388 (GRCm39) missense probably damaging 1.00
R4171:Nup54 UTSW 5 92,565,343 (GRCm39) missense possibly damaging 0.64
R4574:Nup54 UTSW 5 92,573,641 (GRCm39) missense probably benign 0.17
R5372:Nup54 UTSW 5 92,565,716 (GRCm39) missense probably damaging 1.00
R6191:Nup54 UTSW 5 92,572,153 (GRCm39) missense probably damaging 0.99
R6197:Nup54 UTSW 5 92,578,663 (GRCm39) utr 3 prime probably benign
R7861:Nup54 UTSW 5 92,578,952 (GRCm39) missense unknown
R8005:Nup54 UTSW 5 92,576,006 (GRCm39) missense probably benign 0.00
R8016:Nup54 UTSW 5 92,582,176 (GRCm39) missense unknown
R8439:Nup54 UTSW 5 92,573,605 (GRCm39) missense probably benign 0.22
R8709:Nup54 UTSW 5 92,570,267 (GRCm39) intron probably benign
R9711:Nup54 UTSW 5 92,582,218 (GRCm39) missense unknown
Z1177:Nup54 UTSW 5 92,582,138 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGCATGCTGCCTTACCATGG -3'
(R):5'- CCCAAAGGTATTAATTCCACTGTCTG -3'

Sequencing Primer
(F):5'- ATGCTGCCTTACCATGGTAGAACTG -3'
(R):5'- AATTCCACTGTCTGTTGCAGATAC -3'
Posted On 2017-06-26