Incidental Mutation 'R8703:Nup133'
ID 669155
Institutional Source Beutler Lab
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
MMRRC Submission 068557-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8703 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 124643021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000044795] [ENSMUST00000044795] [ENSMUST00000127664]
AlphaFold Q8R0G9
Predicted Effect probably null
Transcript: ENSMUST00000044795
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509

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 null
Transcript: ENSMUST00000044795
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509

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 null
Transcript: ENSMUST00000044795
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509

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
Meta Mutation Damage Score 0.9503 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (44/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,676,792 (GRCm39) T2013I probably damaging Het
Ak9 A T 10: 41,201,120 (GRCm39) N137Y Het
Apol10b T A 15: 77,472,897 (GRCm39) E52D probably damaging Het
Calr3 A T 8: 73,192,291 (GRCm39) Y128N probably damaging Het
Dnah14 T A 1: 181,493,576 (GRCm39) L1669* probably null Het
Dppa3 A T 6: 122,605,737 (GRCm39) D97V probably damaging Het
Dync1li1 C A 9: 114,552,329 (GRCm39) P490T probably damaging Het
Eya4 A G 10: 23,039,340 (GRCm39) S85P probably benign Het
Fpr-rs4 T A 17: 18,242,332 (GRCm39) I113N probably damaging Het
Fryl T C 5: 73,247,997 (GRCm39) D1040G probably damaging Het
Fsip2 A T 2: 82,821,871 (GRCm39) D5868V probably damaging Het
Gpr75 A C 11: 30,841,890 (GRCm39) Q265P probably damaging Het
Iqcm G T 8: 76,615,271 (GRCm39) G451C probably damaging Het
Lgr5 A G 10: 115,288,610 (GRCm39) L678P probably benign Het
Mcm9 G A 10: 53,506,073 (GRCm39) P67L probably damaging Het
Naalad2 A C 9: 18,290,008 (GRCm39) Y207D probably damaging Het
Nrap C T 19: 56,323,703 (GRCm39) D1325N probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or4b1b T A 2: 90,126,837 (GRCm39) I123F probably damaging Het
Or8k28 C A 2: 86,286,244 (GRCm39) V124L possibly damaging Het
Or9i14 G T 19: 13,792,105 (GRCm39) P283H probably damaging Het
Per2 T A 1: 91,351,767 (GRCm39) N913I possibly damaging Het
Rab9 C T X: 165,240,754 (GRCm39) D186N probably benign Het
Reps1 C T 10: 17,968,990 (GRCm39) R183C probably damaging Het
Rims1 A T 1: 22,496,137 (GRCm39) C134S Het
Rpl10-ps3 A G 9: 50,256,184 (GRCm39) S20P probably benign Het
Sash1 C A 10: 8,605,595 (GRCm39) G932C probably damaging Het
Sema4d T C 13: 51,854,959 (GRCm39) Q46R Het
Sh3d19 A G 3: 86,014,568 (GRCm39) E453G probably damaging Het
Sirt6 A G 10: 81,461,548 (GRCm39) probably benign Het
Sis A T 3: 72,867,657 (GRCm39) F129L probably damaging Het
Skint5 T A 4: 113,733,207 (GRCm39) I399F unknown Het
Slc22a7 T C 17: 46,744,951 (GRCm39) D365G probably damaging Het
Slc6a12 A G 6: 121,324,447 (GRCm39) M38V probably benign Het
Slc9b2 C A 3: 135,031,924 (GRCm39) Y261* probably null Het
Spata21 A G 4: 140,832,218 (GRCm39) I460V probably benign Het
Tes C G 6: 17,099,788 (GRCm39) P261R probably damaging Het
Tex15 T C 8: 34,062,724 (GRCm39) L718P probably benign Het
Tmem135 G A 7: 88,808,170 (GRCm39) A202V probably benign Het
Usp29 T C 7: 6,964,321 (GRCm39) F55L probably benign Het
Usp9y A G Y: 1,356,317 (GRCm39) L1128P probably damaging Het
Zdhhc5 T C 2: 84,520,596 (GRCm39) E527G probably benign Het
Zfand4 A G 6: 116,250,604 (GRCm39) I11M probably damaging Het
Zfp110 T A 7: 12,582,888 (GRCm39) I512K probably benign Het
Zfp638 T A 6: 83,954,143 (GRCm39) F1416Y 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
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
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'- CTGGCAGGTGCATCATAAGTC -3'
(R):5'- CCCTTAGGCACAGTGTATGAC -3'

Sequencing Primer
(F):5'- ATCTCTGAGATTGAGGCCAGC -3'
(R):5'- CCTTAGGCACAGTGTATGACAGAAAG -3'
Posted On 2021-04-30