Incidental Mutation 'R6870:Nup133'
ID 536144
Institutional Source Beutler Lab
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
MMRRC Submission 044967-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6870 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124626246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1112 (I1112T)
Ref Sequence ENSEMBL: ENSMUSP00000048084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034453] [ENSMUST00000044795] [ENSMUST00000127664] [ENSMUST00000212584]
AlphaFold Q8R0G9
Predicted Effect probably benign
Transcript: ENSMUST00000034453
SMART Domains Protein: ENSMUSP00000034453
Gene: ENSMUSG00000031972

DomainStartEndE-ValueType
ACTIN 7 377 8.06e-237 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000044795
AA Change: I1112T

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: I1112T

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 probably benign
Transcript: ENSMUST00000212584
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 72% (39/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,020,608 (GRCm39) Y62C probably benign Het
A1bg T C 15: 60,791,564 (GRCm39) T291A probably damaging Het
Abcb11 A G 2: 69,115,642 (GRCm39) I574T possibly damaging Het
Abcb5 T A 12: 118,929,000 (GRCm39) Y17F possibly damaging Het
Arfgef3 A T 10: 18,522,478 (GRCm39) L516* probably null Het
Arhgap21 A G 2: 20,885,321 (GRCm39) S619P probably damaging Het
Atp2c1 A G 9: 105,347,261 (GRCm39) V65A probably benign Het
Calm3 T A 7: 16,653,568 (GRCm39) Q9L probably benign Het
Cd300c2 C T 11: 114,891,503 (GRCm39) D124N probably damaging Het
Celsr3 A G 9: 108,706,390 (GRCm39) T958A probably benign Het
Cemip2 T C 19: 21,809,487 (GRCm39) S956P possibly damaging Het
Cfap69 T C 5: 5,671,958 (GRCm39) T317A probably benign Het
Cluh T A 11: 74,556,210 (GRCm39) I887K probably damaging Het
Dag1 A T 9: 108,086,457 (GRCm39) V228E probably damaging Het
Dhtkd1 T C 2: 5,924,248 (GRCm39) probably null Het
Dnah1 T A 14: 30,993,018 (GRCm39) K2959* probably null Het
Dnttip2 T A 3: 122,069,457 (GRCm39) V224E probably damaging Het
Drosha C T 15: 12,907,479 (GRCm39) P1071L probably benign Het
E030025P04Rik T A 11: 109,030,993 (GRCm39) H84L unknown Het
Elac2 A T 11: 64,890,589 (GRCm39) S698C probably null Het
Elf2 A T 3: 51,201,586 (GRCm39) *88R probably null Het
Fastkd1 T A 2: 69,538,958 (GRCm39) I143L probably benign Het
Fbxw10 C T 11: 62,746,193 (GRCm39) R366C probably damaging Het
Frg2f1 T C 4: 119,388,329 (GRCm39) M57V probably benign Het
Gbp4 T C 5: 105,273,444 (GRCm39) S129G probably damaging Het
Gnat2 A C 3: 108,002,947 (GRCm39) probably benign Het
Golgb1 C A 16: 36,738,565 (GRCm39) F2301L probably damaging Het
Il18bp T C 7: 101,666,518 (GRCm39) T2A possibly damaging Het
Kpna2 T C 11: 106,883,520 (GRCm39) probably null Het
Lrrfip2 A T 9: 111,045,187 (GRCm39) probably benign Het
Map4k1 T G 7: 28,701,096 (GRCm39) probably null Het
Mcm3ap T C 10: 76,306,049 (GRCm39) V54A probably benign Het
Or8b1 A C 9: 38,399,382 (GRCm39) D19A probably benign Het
Pcdhac1 T A 18: 37,225,140 (GRCm39) V651D probably damaging Het
Pde10a A G 17: 9,186,356 (GRCm39) T571A possibly damaging Het
Phc3 A G 3: 30,990,910 (GRCm39) S403P probably damaging Het
Prl7b1 T C 13: 27,788,516 (GRCm39) E113G probably damaging Het
Psmd2 T G 16: 20,480,593 (GRCm39) M744R probably benign Het
Qrich2 T C 11: 116,346,156 (GRCm39) D1556G probably damaging Het
Septin1 C T 7: 126,816,876 (GRCm39) V46M probably benign Het
Shank2 C A 7: 143,606,197 (GRCm39) Q127K probably damaging Het
Siah1a A G 8: 87,451,653 (GRCm39) V277A possibly damaging Het
Slc4a7 T A 14: 14,733,846 (GRCm38) D85E probably damaging Het
Slc5a12 A T 2: 110,472,155 (GRCm39) I526F probably damaging Het
Svil T C 18: 5,063,231 (GRCm39) V834A possibly damaging Het
Sycp1 T A 3: 102,842,919 (GRCm39) S17C probably damaging Het
Tssk6 G A 8: 70,355,673 (GRCm39) R239Q probably benign Het
Txnrd1 A G 10: 82,709,042 (GRCm39) D80G probably benign Het
Tyk2 A G 9: 21,036,250 (GRCm39) F79S probably damaging Het
Tyrp1 T C 4: 80,769,014 (GRCm39) S503P probably benign Het
Upf1 A T 8: 70,794,211 (GRCm39) C232S probably benign Het
Zeb2 G A 2: 44,878,922 (GRCm39) T1080I 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
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
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'- AGACTTCAGGTTGATCCAGACC -3'
(R):5'- AATAGGAACCTGCAGGGCTC -3'

Sequencing Primer
(F):5'- GTCACATCTGTCCTTGGA -3'
(R):5'- GGCTCTGAGGCTCTGAAGAG -3'
Posted On 2018-10-18