Incidental Mutation 'IGL03036:Nup133'
ID 408684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03036
Quality Score
Status
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124673333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 66 (I66K)
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: I66K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: I66K

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: ENSMUST00000212043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212356
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a A T 10: 80,421,534 (GRCm39) Y145* probably null Het
Afdn T G 17: 14,108,350 (GRCm39) I1291S probably benign Het
Arfgap3 T G 15: 83,191,127 (GRCm39) I16L possibly damaging Het
Bbs12 T A 3: 37,373,343 (GRCm39) H45Q possibly damaging Het
Brpf3 T C 17: 29,043,022 (GRCm39) L1021P possibly damaging Het
Cep170 A G 1: 176,596,903 (GRCm39) S485P possibly damaging Het
Cgref1 A T 5: 31,090,937 (GRCm39) N292K probably damaging Het
Chst3 A T 10: 60,022,261 (GRCm39) Y195* probably null Het
Clmn T C 12: 104,740,782 (GRCm39) Y125C probably damaging Het
Col13a1 A G 10: 61,729,692 (GRCm39) probably null Het
Cpeb3 A T 19: 37,002,348 (GRCm39) I688N probably damaging Het
Cpn2 A T 16: 30,079,647 (GRCm39) L18H probably benign Het
Crybg3 T A 16: 59,375,542 (GRCm39) H1904L possibly damaging Het
Csde1 C T 3: 102,951,155 (GRCm39) P249S probably damaging Het
Dcaf1 T C 9: 106,721,339 (GRCm39) L377P probably damaging Het
Dmwd A T 7: 18,815,054 (GRCm39) K568M probably damaging Het
Dsg2 T C 18: 20,712,134 (GRCm39) I90T probably damaging Het
Dytn A G 1: 63,680,281 (GRCm39) I426T probably damaging Het
Edc4 G A 8: 106,613,943 (GRCm39) probably null Het
Elac1 G T 18: 73,871,985 (GRCm39) Q337K probably benign Het
Exd2 G T 12: 80,536,185 (GRCm39) A272S probably damaging Het
F13b A G 1: 139,435,853 (GRCm39) I220V possibly damaging Het
Fblim1 G T 4: 141,310,435 (GRCm39) R276S possibly damaging Het
Fn1 A C 1: 71,668,932 (GRCm39) L671R probably damaging Het
Frem1 A T 4: 82,877,576 (GRCm39) F1334I possibly damaging Het
H2-T23 T A 17: 36,343,249 (GRCm39) I43F possibly damaging Het
Hp1bp3 G A 4: 137,956,043 (GRCm39) G202D probably damaging Het
Kdm5b A G 1: 134,536,675 (GRCm39) M632V probably damaging Het
Klra5 T A 6: 129,885,830 (GRCm39) S20C probably damaging Het
Lancl1 A T 1: 67,046,074 (GRCm39) C276S probably damaging Het
Lect2 A G 13: 56,690,520 (GRCm39) *152Q probably null Het
Maff C A 15: 79,241,658 (GRCm39) S25* probably null Het
Mtr A G 13: 12,262,263 (GRCm39) L171P probably damaging Het
Ndufs1 A T 1: 63,202,855 (GRCm39) Y236* probably null Het
Neb A C 2: 52,134,165 (GRCm39) Y3273D probably damaging Het
Or4c110 T C 2: 88,832,459 (GRCm39) M58V possibly damaging Het
Psmd14 A G 2: 61,614,205 (GRCm39) Y200C probably damaging Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Ptk2b T A 14: 66,411,344 (GRCm39) probably benign Het
Pum3 G A 19: 27,398,713 (GRCm39) T279M probably damaging Het
Rabl6 C T 2: 25,474,868 (GRCm39) G614D probably benign Het
Ripk3 T C 14: 56,024,796 (GRCm39) D128G probably benign Het
Serinc4 A T 2: 121,270,039 (GRCm39) probably benign Het
Slco1a8 T G 6: 141,954,333 (GRCm39) I47L possibly damaging Het
Sorbs2 T C 8: 46,235,902 (GRCm39) S322P probably benign Het
Spmap2l A C 5: 77,164,197 (GRCm39) K67Q possibly damaging Het
Srebf1 A T 11: 60,111,284 (GRCm39) I29N possibly damaging Het
Stk38l T C 6: 146,670,372 (GRCm39) L238S probably damaging Het
Supt20 T A 3: 54,616,723 (GRCm39) C298* probably null Het
Tbc1d19 A G 5: 54,054,389 (GRCm39) D459G probably damaging Het
Ulk2 A T 11: 61,725,660 (GRCm39) L139M probably damaging Het
Unc13b A G 4: 43,235,249 (GRCm39) N3279S probably damaging Het
Ush2a A G 1: 188,596,818 (GRCm39) R3853G possibly damaging Het
Usp7 C T 16: 8,556,078 (GRCm39) M24I probably benign Het
Vil1 A G 1: 74,458,771 (GRCm39) T131A probably damaging Het
Vmn2r2 C T 3: 64,024,321 (GRCm39) M753I probably benign Het
Vmn2r74 A T 7: 85,601,900 (GRCm39) Y579* probably null Het
Zdhhc3 A T 9: 122,929,582 (GRCm39) Y18N probably damaging Het
Zfp609 C T 9: 65,609,927 (GRCm39) S1012N possibly damaging Het
Zfr2 A T 10: 81,077,985 (GRCm39) M271L probably benign 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
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
R0139:Nup133 UTSW 8 124,656,082 (GRCm39) missense probably benign 0.00
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
Posted On 2016-08-02