Incidental Mutation 'R7861:Nup54'
ID 607500
Institutional Source Beutler Lab
Gene Symbol Nup54
Ensembl Gene ENSMUSG00000034826
Gene Name nucleoporin 54
Synonyms 3110079L04Rik, 54kDa
MMRRC Submission 045914-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R7861 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 92563399-92583078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92578952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 33 (T33A)
Ref Sequence ENSEMBL: ENSMUSP00000046540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038514] [ENSMUST00000135112] [ENSMUST00000146470]
AlphaFold Q8BTS4
Predicted Effect unknown
Transcript: ENSMUST00000038514
AA Change: T33A
SMART Domains Protein: ENSMUSP00000046540
Gene: ENSMUSG00000034826
AA Change: T33A

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 unknown
Transcript: ENSMUST00000130156
AA Change: T99A
SMART Domains Protein: ENSMUSP00000120937
Gene: ENSMUSG00000034826
AA Change: T99A

low complexity region 82 110 N/A INTRINSIC
low complexity region 112 123 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000135112
AA Change: T87A
SMART Domains Protein: ENSMUSP00000117237
Gene: ENSMUSG00000034826
AA Change: T87A

low complexity region 5 26 N/A INTRINSIC
internal_repeat_1 34 53 3.34e-6 PROSPERO
internal_repeat_1 49 68 3.34e-6 PROSPERO
low complexity region 69 97 N/A INTRINSIC
low complexity region 99 110 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000146470
SMART Domains Protein: ENSMUSP00000121171
Gene: ENSMUSG00000034826

low complexity region 6 22 N/A INTRINSIC
low complexity region 46 66 N/A INTRINSIC
low complexity region 75 97 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,797,360 (GRCm39) I50F possibly damaging Het
Abcc3 T C 11: 94,248,075 (GRCm39) D1175G probably null Het
Accs C A 2: 93,666,077 (GRCm39) *503L probably null Het
Adgra2 A G 8: 27,604,485 (GRCm39) E520G probably damaging Het
Aldh7a1 C A 18: 56,681,525 (GRCm39) C215F probably benign Het
Apbb1ip A C 2: 22,706,990 (GRCm39) D9A unknown Het
Atad2 G A 15: 57,989,176 (GRCm39) A228V probably benign Het
Atp10a T C 7: 58,438,107 (GRCm39) S430P probably damaging Het
Atp1a3 T C 7: 24,700,573 (GRCm39) D6G unknown Het
Brca1 A T 11: 101,417,248 (GRCm39) N295K possibly damaging Het
Caly C A 7: 139,661,301 (GRCm39) probably benign Het
Ces1h A G 8: 94,084,053 (GRCm39) Y386H unknown Het
Col14a1 A G 15: 55,308,012 (GRCm39) D1044G unknown Het
Csf2rb A G 15: 78,233,357 (GRCm39) D888G probably damaging Het
Cux1 T C 5: 136,281,458 (GRCm39) E568G possibly damaging Het
Dhrs7b T A 11: 60,746,568 (GRCm39) L219Q probably damaging Het
Dlg5 G A 14: 24,295,280 (GRCm39) P80L probably damaging Het
Dnah14 C T 1: 181,444,324 (GRCm39) P545S probably damaging Het
Dnajc24 A T 2: 105,832,380 (GRCm39) M1K probably null Het
Dusp12 C T 1: 170,702,095 (GRCm39) W301* probably null Het
Dyrk1a G T 16: 94,492,575 (GRCm39) G603* probably null Het
Eif4g1 T A 16: 20,498,452 (GRCm39) V403E probably benign Het
Epn3 T C 11: 94,387,100 (GRCm39) E90G probably damaging Het
Etl4 A G 2: 20,810,721 (GRCm39) S1303G probably benign Het
Evpl A T 11: 116,118,895 (GRCm39) Y627N probably damaging Het
Fbxw25 A T 9: 109,493,625 (GRCm39) L22* probably null Het
Fcamr T A 1: 130,742,375 (GRCm39) N587K probably benign Het
Fgd6 A G 10: 93,939,193 (GRCm39) N946S probably benign Het
Fndc3b A T 3: 27,523,148 (GRCm39) I477N possibly damaging Het
Grifin C T 5: 140,550,280 (GRCm39) A54T probably benign Het
Gtf2b A G 3: 142,487,105 (GRCm39) I180M probably damaging Het
Invs A T 4: 48,397,559 (GRCm39) D378V possibly damaging Het
Itgb6 T C 2: 60,458,788 (GRCm39) E378G probably damaging Het
Khdc1a T C 1: 21,420,623 (GRCm39) I81T possibly damaging Het
Kif20b T A 19: 34,917,322 (GRCm39) D617E probably damaging Het
Kifc3 T A 8: 95,834,165 (GRCm39) probably null Het
Kirrel3 C T 9: 34,931,419 (GRCm39) H403Y possibly damaging Het
Klf15 G A 6: 90,443,820 (GRCm39) V132I probably benign Het
Kmt2a A G 9: 44,730,031 (GRCm39) S3429P unknown Het
Lama1 T G 17: 68,116,216 (GRCm39) L2361R Het
Lrp1b T C 2: 40,587,570 (GRCm39) D3895G Het
Mcoln3 A C 3: 145,830,546 (GRCm39) E92A possibly damaging Het
Myo3b T C 2: 69,939,032 (GRCm39) M135T probably damaging Het
Mysm1 A G 4: 94,835,204 (GRCm39) *820Q probably null Het
Ncoa7 A G 10: 30,567,056 (GRCm39) S541P probably benign Het
Or10al2 C A 17: 37,983,408 (GRCm39) Q165K possibly damaging Het
Or13a17 T G 7: 140,271,484 (GRCm39) I222S probably damaging Het
Or1s2 T C 19: 13,758,810 (GRCm39) V276A possibly damaging Het
Or4k42 T A 2: 111,320,369 (GRCm39) I45F probably damaging Het
Or51a5 T A 7: 102,771,899 (GRCm39) I27F probably benign Het
Otud6b A G 4: 14,826,414 (GRCm39) C18R probably benign Het
Pde4d A G 13: 110,071,858 (GRCm39) E284G probably damaging Het
Pidd1 C A 7: 141,020,055 (GRCm39) W598L probably damaging Het
Pira2 A T 7: 3,847,543 (GRCm39) C49S probably damaging Het
Pramel11 T C 4: 143,624,288 (GRCm39) M70V possibly damaging Het
Prdx1 T G 4: 116,550,935 (GRCm39) D135E probably benign Het
Rab15 T A 12: 76,849,903 (GRCm39) Y88F probably damaging Het
Rem2 C A 14: 54,715,256 (GRCm39) H144Q probably damaging Het
Sel1l3 T C 5: 53,301,406 (GRCm39) D737G probably damaging Het
Srd5a3 C T 5: 76,295,666 (GRCm39) Q119* probably null Het
Suclg2 G T 6: 95,571,703 (GRCm39) Q120K probably benign Het
Tacc2 T A 7: 130,227,161 (GRCm39) M1282K probably benign Het
Tbc1d5 T A 17: 51,063,720 (GRCm39) Q620L probably damaging Het
Tdrd3 G T 14: 87,709,590 (GRCm39) A91S probably damaging Het
Thsd7b T A 1: 130,087,435 (GRCm39) F1184Y probably benign Het
Trim28 T A 7: 12,762,339 (GRCm39) V321E possibly damaging Het
Trim5 C A 7: 103,915,675 (GRCm39) probably null Het
Ugt2b37 A T 5: 87,390,299 (GRCm39) Y382* probably null Het
Usp40 C T 1: 87,909,852 (GRCm39) G534D probably damaging Het
Usp53 A T 3: 122,728,112 (GRCm39) H823Q probably benign Het
Vmn2r12 T A 5: 109,235,829 (GRCm39) M508L probably benign Het
Vmn2r56 T A 7: 12,449,351 (GRCm39) I296F probably benign Het
Vps13a T C 19: 16,632,668 (GRCm39) S2563G probably damaging Het
Wdr59 A G 8: 112,220,912 (GRCm39) F207L Het
Zan A G 5: 137,405,295 (GRCm39) S3777P unknown Het
Zfp277 T C 12: 40,365,880 (GRCm39) N530D possibly damaging Het
Zfp365 G A 10: 67,745,749 (GRCm39) R10W probably damaging Het
Zfp384 A T 6: 125,013,288 (GRCm39) H452L probably damaging Het
Zftraf1 C T 15: 76,532,386 (GRCm39) D241N probably benign Het
Zfyve28 A T 5: 34,374,487 (GRCm39) L509Q probably damaging 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
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
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

Sequencing Primer
Posted On 2019-12-20