Incidental Mutation 'R0139:Nup133'
ID 22187
Institutional Source Beutler Lab
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
MMRRC Submission 038424-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0139 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124656082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 466 (N466K)
Ref Sequence ENSEMBL: ENSMUSP00000048084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000127664]
AlphaFold Q8R0G9
Predicted Effect probably benign
Transcript: ENSMUST00000044795
AA Change: N466K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: N466K

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
PDB:1XKS|A 66 513 N/A PDB
Pfam:Nucleoporin_C 593 1052 1.2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212133
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 97% (89/92)
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. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality prior to E10.5, abnormal somitogenesis, pericardial edema, growth retardation, and abnormal neural development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik C T 8: 12,329,899 (GRCm39) S118L unknown Het
Adprs A G 4: 126,211,947 (GRCm39) Y122H probably damaging Het
Ankrd52 T C 10: 128,222,007 (GRCm39) S544P probably benign Het
Aopep A G 13: 63,338,298 (GRCm39) N558S probably benign Het
Arhgef7 A G 8: 11,850,503 (GRCm39) E111G probably damaging Het
Atp11a A G 8: 12,896,054 (GRCm39) M755V probably benign Het
Atp2a2 A G 5: 122,629,778 (GRCm39) I97T probably damaging Het
Bmp3 G A 5: 99,027,768 (GRCm39) D463N possibly damaging Het
Cacna2d4 T C 6: 119,255,230 (GRCm39) probably benign Het
Ccdc28a G A 10: 18,106,188 (GRCm39) S46F possibly damaging Het
Ccdc40 G A 11: 119,155,125 (GRCm39) G1122S probably benign Het
Cenpw T G 10: 30,076,455 (GRCm39) T8P probably benign Het
Cfap44 G C 16: 44,253,785 (GRCm39) G893R possibly damaging Het
Cimap3 A T 3: 105,906,886 (GRCm39) M171K possibly damaging Het
Cops7a A T 6: 124,938,323 (GRCm39) C110S probably damaging Het
Cstl1 A G 2: 148,597,245 (GRCm39) N134S probably damaging Het
Cyp2s1 G T 7: 25,511,114 (GRCm39) probably null Het
Dio2 T A 12: 90,696,617 (GRCm39) N124Y probably damaging Het
Ecel1 C A 1: 87,082,248 (GRCm39) G155V possibly damaging Het
Efr3a G T 15: 65,717,830 (GRCm39) V337F possibly damaging Het
Eva1b A C 4: 126,043,446 (GRCm39) H162P probably damaging Het
Exoc5 C T 14: 49,273,493 (GRCm39) E301K probably damaging Het
F13b G A 1: 139,435,941 (GRCm39) S249N probably damaging Het
Fam120b C T 17: 15,646,446 (GRCm39) probably benign Het
Gbf1 T C 19: 46,250,231 (GRCm39) L396S probably damaging Het
Gck T A 11: 5,859,139 (GRCm39) K143* probably null Het
Gck C A 11: 5,860,370 (GRCm39) V91L probably damaging Het
Glt8d2 T C 10: 82,496,644 (GRCm39) N138S probably damaging Het
Gm4884 T C 7: 40,692,387 (GRCm39) F119L probably benign Het
Igsf11 T C 16: 38,829,240 (GRCm39) S45P probably damaging Het
Iho1 T C 9: 108,289,695 (GRCm39) T176A probably damaging Het
Il10 G A 1: 130,950,271 (GRCm39) V142M probably damaging Het
Insc A T 7: 114,368,237 (GRCm39) H9L probably damaging Het
Iqsec1 G T 6: 90,786,740 (GRCm39) probably benign Het
Katnb1 A G 8: 95,825,050 (GRCm39) S611G possibly damaging Het
Kcnb1 A G 2: 166,947,459 (GRCm39) I463T possibly damaging Het
Lao1 A G 4: 118,821,399 (GRCm39) N90S probably benign Het
Med16 T A 10: 79,732,635 (GRCm39) M710L probably benign Het
Mroh2a G C 1: 88,185,524 (GRCm39) E1510D probably damaging Het
Mtus1 G A 8: 41,469,233 (GRCm39) probably benign Het
Mybpc3 A G 2: 90,950,682 (GRCm39) probably benign Het
Ndor1 C T 2: 25,138,366 (GRCm39) V405M possibly damaging Het
Nell2 A G 15: 95,330,782 (GRCm39) V213A probably benign Het
Nme8 T C 13: 19,862,018 (GRCm39) I204V probably benign Het
Nxt1 A G 2: 148,517,390 (GRCm39) T44A probably benign Het
Or14c46 T C 7: 85,918,187 (GRCm39) E270G probably benign Het
Or2ag15 A T 7: 106,340,832 (GRCm39) I103N probably benign Het
Or2y12 C T 11: 49,426,401 (GRCm39) L130F probably benign Het
Or4e1 T C 14: 52,700,669 (GRCm39) T239A probably damaging Het
Or4f7 A T 2: 111,644,699 (GRCm39) I124K possibly damaging Het
Or7e168 C T 9: 19,720,165 (GRCm39) L184F probably damaging Het
Pced1a T C 2: 130,263,827 (GRCm39) K275R probably benign Het
Pdcd11 A G 19: 47,099,398 (GRCm39) probably null Het
Phldb2 A C 16: 45,591,029 (GRCm39) probably benign Het
Piwil1 C A 5: 128,824,387 (GRCm39) S490Y probably damaging Het
Plekhh3 T C 11: 101,054,501 (GRCm39) probably benign Het
Ppargc1b A T 18: 61,449,034 (GRCm39) probably benign Het
Psg19 C T 7: 18,530,942 (GRCm39) V71I possibly damaging Het
Ptk6 T C 2: 180,838,724 (GRCm39) probably benign Het
Pus7 A G 5: 23,983,090 (GRCm39) S126P probably damaging Het
Rab6b T A 9: 103,017,576 (GRCm39) probably null Het
Ranbp3 G A 17: 57,016,272 (GRCm39) R347Q possibly damaging Het
Sanbr A T 11: 23,570,214 (GRCm39) probably benign Het
Sbf1 A T 15: 89,186,701 (GRCm39) L866Q probably damaging Het
Slc25a34 A G 4: 141,349,663 (GRCm39) V164A possibly damaging Het
Smg1 A G 7: 117,751,898 (GRCm39) probably null Het
Spin1 G T 13: 51,303,048 (GRCm39) V214L probably benign Het
Spmip2 A T 3: 79,313,142 (GRCm39) Y72F probably damaging Het
Sptbn1 T C 11: 30,092,289 (GRCm39) N492S probably benign Het
Stk-ps2 A G 1: 46,068,955 (GRCm39) noncoding transcript Het
Taar7f T C 10: 23,926,312 (GRCm39) I302T probably benign Het
Tdrd1 C A 19: 56,831,630 (GRCm39) H340Q probably benign Het
Thumpd3 A G 6: 113,044,762 (GRCm39) D498G probably benign Het
Tpgs2 A G 18: 25,282,242 (GRCm39) L103P probably damaging Het
Trip10 A G 17: 57,568,633 (GRCm39) probably null Het
Trip6 A T 5: 137,310,436 (GRCm39) H269Q probably benign Het
Trmt12 T C 15: 58,744,743 (GRCm39) V47A possibly damaging Het
Trpm7 A T 2: 126,654,691 (GRCm39) S1416T probably benign Het
Tsks G A 7: 44,603,883 (GRCm39) A438T probably benign Het
Ttn T C 2: 76,727,630 (GRCm39) probably benign Het
Twf2 G A 9: 106,090,155 (GRCm39) V136M possibly damaging Het
Uty A C Y: 1,197,223 (GRCm39) Y115D probably damaging Het
Vcan A G 13: 89,839,380 (GRCm39) S2055P probably damaging Het
Yes1 A G 5: 32,842,039 (GRCm39) Q521R possibly damaging Het
Zfp114 A T 7: 23,880,685 (GRCm39) T344S possibly damaging Het
Zfp661 A T 2: 127,420,532 (GRCm39) V89D possibly damaging Het
Zfp91 A T 19: 12,747,834 (GRCm39) Y430N probably damaging Het
Other mutations in Nup133
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Nup133 APN 8 124,665,822 (GRCm39) missense probably damaging 0.98
IGL00507:Nup133 APN 8 124,645,706 (GRCm39) nonsense probably null
IGL00585:Nup133 APN 8 124,636,733 (GRCm39) missense probably damaging 1.00
IGL00676:Nup133 APN 8 124,633,037 (GRCm39) intron probably benign
IGL00966:Nup133 APN 8 124,638,645 (GRCm39) missense probably damaging 0.98
IGL01069:Nup133 APN 8 124,657,721 (GRCm39) nonsense probably null
IGL01553:Nup133 APN 8 124,642,063 (GRCm39) missense possibly damaging 0.58
IGL01669:Nup133 APN 8 124,665,869 (GRCm39) nonsense probably null
IGL01730:Nup133 APN 8 124,664,972 (GRCm39) missense probably benign 0.00
IGL01996:Nup133 APN 8 124,673,334 (GRCm39) missense probably benign 0.00
IGL02332:Nup133 APN 8 124,634,571 (GRCm39) missense probably damaging 1.00
IGL02552:Nup133 APN 8 124,655,994 (GRCm39) missense possibly damaging 0.75
IGL02956:Nup133 APN 8 124,675,822 (GRCm39) missense probably benign 0.00
IGL03009:Nup133 APN 8 124,660,239 (GRCm39) missense possibly damaging 0.46
IGL03036:Nup133 APN 8 124,673,333 (GRCm39) missense probably benign 0.11
Cadenza UTSW 8 124,638,627 (GRCm39) frame shift probably null
Gangen UTSW 8 124,643,021 (GRCm39) critical splice donor site probably null
hochzeit UTSW 8 124,656,082 (GRCm39) missense probably benign 0.00
low_road UTSW 8 124,631,318 (GRCm39) missense probably damaging 1.00
Pathway UTSW 8 124,644,185 (GRCm39) missense possibly damaging 0.82
Slant UTSW 8 124,643,020 (GRCm39) splice site probably null
R0010:Nup133 UTSW 8 124,631,318 (GRCm39) missense probably damaging 1.00
R0010:Nup133 UTSW 8 124,631,318 (GRCm39) missense probably damaging 1.00
R0344:Nup133 UTSW 8 124,644,185 (GRCm39) missense possibly damaging 0.82
R0730:Nup133 UTSW 8 124,675,747 (GRCm39) missense probably benign 0.00
R1301:Nup133 UTSW 8 124,644,156 (GRCm39) intron probably benign
R1453:Nup133 UTSW 8 124,642,114 (GRCm39) missense probably benign 0.00
R1570:Nup133 UTSW 8 124,675,915 (GRCm39) start codon destroyed possibly damaging 0.82
R1607:Nup133 UTSW 8 124,675,774 (GRCm39) missense probably benign 0.02
R1773:Nup133 UTSW 8 124,657,722 (GRCm39) nonsense probably null
R1992:Nup133 UTSW 8 124,632,960 (GRCm39) missense possibly damaging 0.80
R2062:Nup133 UTSW 8 124,641,314 (GRCm39) missense probably damaging 1.00
R2065:Nup133 UTSW 8 124,641,314 (GRCm39) missense probably damaging 1.00
R2066:Nup133 UTSW 8 124,641,314 (GRCm39) missense probably damaging 1.00
R2068:Nup133 UTSW 8 124,641,314 (GRCm39) missense probably damaging 1.00
R4397:Nup133 UTSW 8 124,671,040 (GRCm39) missense probably benign 0.04
R4683:Nup133 UTSW 8 124,657,721 (GRCm39) nonsense probably null
R4771:Nup133 UTSW 8 124,656,137 (GRCm39) missense probably damaging 1.00
R4910:Nup133 UTSW 8 124,653,870 (GRCm39) missense possibly damaging 0.91
R4911:Nup133 UTSW 8 124,653,870 (GRCm39) missense possibly damaging 0.91
R4968:Nup133 UTSW 8 124,641,935 (GRCm39) missense probably benign 0.07
R5411:Nup133 UTSW 8 124,653,945 (GRCm39) missense probably benign
R5470:Nup133 UTSW 8 124,657,705 (GRCm39) missense probably benign 0.00
R5664:Nup133 UTSW 8 124,633,020 (GRCm39) missense probably benign 0.01
R5907:Nup133 UTSW 8 124,643,038 (GRCm39) missense possibly damaging 0.90
R6003:Nup133 UTSW 8 124,665,031 (GRCm39) missense probably damaging 0.98
R6059:Nup133 UTSW 8 124,641,335 (GRCm39) missense probably damaging 1.00
R6219:Nup133 UTSW 8 124,663,612 (GRCm39) missense possibly damaging 0.90
R6292:Nup133 UTSW 8 124,644,176 (GRCm39) missense probably benign 0.01
R6672:Nup133 UTSW 8 124,643,020 (GRCm39) splice site probably null
R6737:Nup133 UTSW 8 124,633,030 (GRCm39) missense probably damaging 0.99
R6763:Nup133 UTSW 8 124,671,017 (GRCm39) missense possibly damaging 0.95
R6870:Nup133 UTSW 8 124,626,246 (GRCm39) missense probably benign 0.08
R6975:Nup133 UTSW 8 124,642,057 (GRCm39) missense probably damaging 0.99
R7101:Nup133 UTSW 8 124,632,966 (GRCm39) missense possibly damaging 0.89
R7114:Nup133 UTSW 8 124,642,112 (GRCm39) missense probably benign 0.00
R7271:Nup133 UTSW 8 124,649,153 (GRCm39) missense probably benign 0.34
R7501:Nup133 UTSW 8 124,649,153 (GRCm39) missense probably benign 0.34
R8054:Nup133 UTSW 8 124,675,956 (GRCm39) intron probably benign
R8397:Nup133 UTSW 8 124,649,156 (GRCm39) missense probably benign 0.17
R8703:Nup133 UTSW 8 124,643,021 (GRCm39) critical splice donor site probably null
R8811:Nup133 UTSW 8 124,638,627 (GRCm39) frame shift probably null
R8813:Nup133 UTSW 8 124,638,627 (GRCm39) frame shift probably null
R8952:Nup133 UTSW 8 124,634,500 (GRCm39) missense probably damaging 1.00
R9116:Nup133 UTSW 8 124,660,155 (GRCm39) missense probably benign 0.00
R9340:Nup133 UTSW 8 124,664,881 (GRCm39) missense probably benign 0.38
X0023:Nup133 UTSW 8 124,636,727 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTATGTGATGCCACAAGTGCCC -3'
(R):5'- AAGTGGAAAGGCCGTCTGCTTC -3'

Sequencing Primer
(F):5'- GAAGCATGAATTGTCCCAAGTC -3'
(R):5'- TGCTTCATGGAGTAGGAGCA -3'
Posted On 2013-04-16