Incidental Mutation 'IGL00491:Nup54'
ID 5589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup54
Ensembl Gene ENSMUSG00000034826
Gene Name nucleoporin 54
Synonyms 3110079L04Rik, 54kDa
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL00491
Quality Score
Status
Chromosome 5
Chromosomal Location 92563399-92583078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92565344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 458 (I458L)
Ref Sequence ENSEMBL: ENSMUSP00000046540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038514] [ENSMUST00000113083] [ENSMUST00000117108] [ENSMUST00000118106] [ENSMUST00000119587] [ENSMUST00000120193] [ENSMUST00000120416] [ENSMUST00000152041] [ENSMUST00000121096]
AlphaFold Q8BTS4
Predicted Effect probably benign
Transcript: ENSMUST00000038514
AA Change: I458L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000046540
Gene: ENSMUSG00000034826
AA Change: I458L

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 probably benign
Transcript: ENSMUST00000113083
SMART Domains Protein: ENSMUSP00000108706
Gene: ENSMUSG00000034842

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 4.4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117108
SMART Domains Protein: ENSMUSP00000113041
Gene: ENSMUSG00000034842

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 1.9e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118106
SMART Domains Protein: ENSMUSP00000114083
Gene: ENSMUSG00000034842

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 9e-66 PFAM
low complexity region 298 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119587
SMART Domains Protein: ENSMUSP00000112648
Gene: ENSMUSG00000034842

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120193
SMART Domains Protein: ENSMUSP00000113074
Gene: ENSMUSG00000034842

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 8.4e-66 PFAM
low complexity region 298 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120416
SMART Domains Protein: ENSMUSP00000113493
Gene: ENSMUSG00000034842

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 3.1e-65 PFAM
low complexity region 298 309 N/A INTRINSIC
low complexity region 366 373 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123694
Predicted Effect probably benign
Transcript: ENSMUST00000138003
Predicted Effect probably benign
Transcript: ENSMUST00000152041
Predicted Effect probably benign
Transcript: ENSMUST00000121096
SMART Domains Protein: ENSMUSP00000113510
Gene: ENSMUSG00000034842

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 1.8e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126281
SMART Domains Protein: ENSMUSP00000116110
Gene: ENSMUSG00000034842

DomainStartEndE-ValueType
Pfam:ART 1 190 3e-53 PFAM
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 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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,171,113 (GRCm39) S1870Y possibly damaging Het
Bcorl1 T G X: 47,494,919 (GRCm39) V1730G probably damaging Het
Ccdc7a A G 8: 129,753,235 (GRCm39) probably benign Het
Col13a1 T A 10: 61,699,784 (GRCm39) probably null Het
Dgkq A G 5: 108,802,448 (GRCm39) S417P possibly damaging Het
Dnah1 A G 14: 30,983,796 (GRCm39) Y4016H probably damaging Het
Dnajc1 A G 2: 18,313,713 (GRCm39) V136A possibly damaging Het
Fcgbp A G 7: 27,792,827 (GRCm39) T944A probably damaging Het
Gm10351 A T 7: 42,749,217 (GRCm39) noncoding transcript Het
Mettl9 T A 7: 120,651,336 (GRCm39) V17E probably damaging Het
Msh5 A G 17: 35,249,706 (GRCm39) V613A probably damaging Het
Oxct1 A G 15: 4,125,996 (GRCm39) N365D probably damaging Het
Patl1 T A 19: 11,907,251 (GRCm39) N378K probably benign Het
Plcl1 T C 1: 55,752,657 (GRCm39) probably null Het
Polk A T 13: 96,633,268 (GRCm39) D258E probably benign Het
Ppm1f T C 16: 16,741,777 (GRCm39) L417P probably benign Het
Rnf133 T C 6: 23,649,255 (GRCm39) I225V probably benign Het
Robo4 A T 9: 37,317,231 (GRCm39) K463N possibly damaging Het
Slc12a2 T A 18: 58,069,477 (GRCm39) D1019E probably damaging Het
Spock1 C A 13: 57,704,619 (GRCm39) R116S possibly damaging Het
Stambp G T 6: 83,533,280 (GRCm39) L328I probably damaging Het
Tdrd7 T C 4: 46,010,889 (GRCm39) C598R probably damaging Het
Tmem87a A G 2: 120,210,261 (GRCm39) probably benign Het
Tpra1 A G 6: 88,887,390 (GRCm39) probably benign Het
Vps13c A G 9: 67,800,418 (GRCm39) E544G probably damaging Het
Other mutations in Nup54
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6003:Nup54 UTSW 5 92,570,853 (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
Posted On 2012-04-20