Incidental Mutation 'IGL02552:Nup133'
ID298147
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Namenucleoporin 133
Synonymsmermaid, 4832420O05Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02552
Quality Score
Status
Chromosome8
Chromosomal Location123897123-123949265 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 123929255 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 496 (R496W)
Ref Sequence ENSEMBL: ENSMUSP00000048084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000127664]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044795
AA Change: R496W

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: R496W

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
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. 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,414,496 L178S probably damaging Het
2010005H15Rik A G 16: 36,253,089 E15G probably damaging Het
9130409I23Rik T A 1: 181,054,898 V75E possibly damaging Het
Abca12 A G 1: 71,294,747 Y1199H probably damaging Het
Abcc9 T C 6: 142,605,919 D1221G possibly damaging Het
Apc T A 18: 34,312,982 M977K possibly damaging Het
Arhgap30 T A 1: 171,407,756 L566Q probably damaging Het
Arhgap40 T A 2: 158,546,801 W552R probably benign Het
Astn1 C T 1: 158,505,395 S349F possibly damaging Het
Bard1 T C 1: 71,065,656 probably benign Het
Batf2 T A 19: 6,171,507 Y116N probably benign Het
Cbx6 T C 15: 79,828,893 H111R probably damaging Het
Cd44 T A 2: 102,848,731 N242I probably benign Het
Cdnf C T 2: 3,523,975 Q184* probably null Het
Chd2 C A 7: 73,447,320 probably benign Het
Cmtm6 G A 9: 114,737,306 V88M probably damaging Het
Col24a1 C A 3: 145,474,207 S1151R possibly damaging Het
Dnajc2 T C 5: 21,783,063 D6G probably damaging Het
Eif3a G A 19: 60,763,226 probably benign Het
Fbn1 C A 2: 125,412,713 C210F possibly damaging Het
Fmn2 T A 1: 174,695,720 D1380E probably damaging Het
Fry A T 5: 150,380,910 K588N probably damaging Het
Gm18856 G A 13: 13,965,220 probably benign Het
Gpr37 G T 6: 25,688,687 T137K probably benign Het
Gzmc T C 14: 56,234,582 M1V probably null Het
Htr5a T C 5: 27,842,960 V171A probably benign Het
Ints6l T C X: 56,455,197 probably benign Het
Kcnma1 C T 14: 23,386,259 probably null Het
Krt35 C T 11: 100,093,073 G367D probably benign Het
Nlrp1b C T 11: 71,182,052 V322I possibly damaging Het
Nlrp1b C T 11: 71,172,231 V668I possibly damaging Het
Ntf3 T C 6: 126,101,860 N228D probably damaging Het
Olfr1258 T C 2: 89,930,559 V250A probably benign Het
Olfr640 C A 7: 104,022,256 G21W probably damaging Het
Pah C T 10: 87,578,845 probably benign Het
Pan2 G T 10: 128,319,027 W1112L probably damaging Het
Pkn3 G A 2: 30,080,867 R209Q probably damaging Het
Plaa C T 4: 94,582,480 probably null Het
Qprt C T 7: 127,108,855 A135T probably damaging Het
Rbbp6 T G 7: 122,982,981 S108A probably damaging Het
Smg1 T A 7: 118,195,894 probably benign Het
Spink5 T A 18: 43,992,168 C368S possibly damaging Het
Sptan1 T A 2: 30,018,474 I1734N probably damaging Het
Stk38l C T 6: 146,767,533 L170F probably damaging Het
Tesmin C T 19: 3,402,483 probably benign Het
Tjp1 A T 7: 65,299,782 C1697* probably null Het
Tmco4 T C 4: 139,058,379 S587P probably benign Het
Tmem208 G A 8: 105,328,697 probably null Het
Trim30d T C 7: 104,472,416 Q224R probably damaging Het
Trpm7 T A 2: 126,840,779 D390V probably damaging Het
Uba7 A G 9: 107,981,390 I807V probably benign Het
Uhrf1bp1l T A 10: 89,806,743 L10* probably null Het
Utp18 C A 11: 93,868,334 C438F probably damaging Het
Vps13d T C 4: 145,173,137 K191E possibly damaging Het
Wdr27 A G 17: 14,926,191 S181P probably damaging Het
Zfp462 T C 4: 55,010,613 Y860H probably damaging Het
Other mutations in Nup133
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Nup133 APN 8 123939083 missense probably damaging 0.98
IGL00507:Nup133 APN 8 123918967 nonsense probably null
IGL00585:Nup133 APN 8 123909994 missense probably damaging 1.00
IGL00676:Nup133 APN 8 123906298 intron probably benign
IGL00966:Nup133 APN 8 123911906 missense probably damaging 0.98
IGL01069:Nup133 APN 8 123930982 nonsense probably null
IGL01553:Nup133 APN 8 123915324 missense possibly damaging 0.58
IGL01669:Nup133 APN 8 123939130 nonsense probably null
IGL01730:Nup133 APN 8 123938233 missense probably benign 0.00
IGL01996:Nup133 APN 8 123946595 missense probably benign 0.00
IGL02332:Nup133 APN 8 123907832 missense probably damaging 1.00
IGL02956:Nup133 APN 8 123949083 missense probably benign 0.00
IGL03009:Nup133 APN 8 123933500 missense possibly damaging 0.46
IGL03036:Nup133 APN 8 123946594 missense probably benign 0.11
Slant UTSW 8 123916281 splice site probably null
R0010:Nup133 UTSW 8 123904579 missense probably damaging 1.00
R0010:Nup133 UTSW 8 123904579 missense probably damaging 1.00
R0139:Nup133 UTSW 8 123929343 missense probably benign 0.00
R0344:Nup133 UTSW 8 123917446 missense possibly damaging 0.82
R0730:Nup133 UTSW 8 123949008 missense probably benign 0.00
R1301:Nup133 UTSW 8 123917417 intron probably benign
R1453:Nup133 UTSW 8 123915375 missense probably benign 0.00
R1570:Nup133 UTSW 8 123949176 start codon destroyed possibly damaging 0.82
R1607:Nup133 UTSW 8 123949035 missense probably benign 0.02
R1773:Nup133 UTSW 8 123930983 nonsense probably null
R1992:Nup133 UTSW 8 123906221 missense possibly damaging 0.80
R2062:Nup133 UTSW 8 123914575 missense probably damaging 1.00
R2065:Nup133 UTSW 8 123914575 missense probably damaging 1.00
R2066:Nup133 UTSW 8 123914575 missense probably damaging 1.00
R2068:Nup133 UTSW 8 123914575 missense probably damaging 1.00
R4397:Nup133 UTSW 8 123944301 missense probably benign 0.04
R4683:Nup133 UTSW 8 123930982 nonsense probably null
R4771:Nup133 UTSW 8 123929398 missense probably damaging 1.00
R4910:Nup133 UTSW 8 123927131 missense possibly damaging 0.91
R4911:Nup133 UTSW 8 123927131 missense possibly damaging 0.91
R4968:Nup133 UTSW 8 123915196 missense probably benign 0.07
R5411:Nup133 UTSW 8 123927206 missense probably benign
R5470:Nup133 UTSW 8 123930966 missense probably benign 0.00
R5664:Nup133 UTSW 8 123906281 missense probably benign 0.01
R5907:Nup133 UTSW 8 123916299 missense possibly damaging 0.90
R6003:Nup133 UTSW 8 123938292 missense probably damaging 0.98
R6059:Nup133 UTSW 8 123914596 missense probably damaging 1.00
R6219:Nup133 UTSW 8 123936873 missense possibly damaging 0.90
R6292:Nup133 UTSW 8 123917437 missense probably benign 0.01
R6672:Nup133 UTSW 8 123916281 splice site probably null
R6737:Nup133 UTSW 8 123906291 missense probably damaging 0.99
R6763:Nup133 UTSW 8 123944278 missense possibly damaging 0.95
R6870:Nup133 UTSW 8 123899507 missense probably benign 0.08
R6975:Nup133 UTSW 8 123915318 missense probably damaging 0.99
R7101:Nup133 UTSW 8 123906227 missense possibly damaging 0.89
R7114:Nup133 UTSW 8 123915373 missense probably benign 0.00
R7271:Nup133 UTSW 8 123922414 missense probably benign 0.34
R7501:Nup133 UTSW 8 123922414 missense probably benign 0.34
X0023:Nup133 UTSW 8 123909988 missense probably benign
Posted On2015-04-16