Incidental Mutation 'R1607:Nup133'
ID 176556
Institutional Source Beutler Lab
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
MMRRC Submission 039644-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1607 (G1)
Quality Score 126
Status Not validated
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124675774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 48 (F48L)
Ref Sequence ENSEMBL: ENSMUSP00000048084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000075578] [ENSMUST00000127664]
AlphaFold Q8R0G9
Predicted Effect probably benign
Transcript: ENSMUST00000044795
AA Change: F48L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: F48L

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: ENSMUST00000075578
SMART Domains Protein: ENSMUSP00000075011
Gene: ENSMUSG00000031974

DomainStartEndE-ValueType
Pfam:ABC_membrane 136 407 1.7e-60 PFAM
AAA 484 675 1.68e-18 SMART
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212250
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.5%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C T 7: 119,850,514 (GRCm39) P789S probably damaging Het
Adam17 T A 12: 21,384,139 (GRCm39) probably null Het
Afdn C T 17: 14,030,763 (GRCm39) R224W probably damaging Het
Als2 A G 1: 59,219,306 (GRCm39) Y1215H probably damaging Het
Anks1b A T 10: 89,878,410 (GRCm39) D73V probably damaging Het
Bpifb6 T C 2: 153,748,781 (GRCm39) F259S probably damaging Het
Cenpv A T 11: 62,416,002 (GRCm39) M249K probably benign Het
Ces1d C T 8: 93,912,746 (GRCm39) V231I probably benign Het
Clasp1 G A 1: 118,432,689 (GRCm39) V460I probably damaging Het
Cnot10 A T 9: 114,458,163 (GRCm39) Y114* probably null Het
Cpb1 G T 3: 20,317,946 (GRCm39) R193S probably benign Het
Ctc1 T C 11: 68,926,976 (GRCm39) S1207P possibly damaging Het
Cttnbp2 T A 6: 18,435,432 (GRCm39) K142M probably damaging Het
Dhrs7b T G 11: 60,742,717 (GRCm39) D136E probably benign Het
Dnah7b T C 1: 46,329,806 (GRCm39) S3217P probably damaging Het
Eif4g3 C T 4: 137,853,874 (GRCm39) S480L probably benign Het
Enah A T 1: 181,744,762 (GRCm39) probably null Het
Epx T C 11: 87,759,538 (GRCm39) D517G probably damaging Het
Gabrg2 T A 11: 41,867,490 (GRCm39) D43V probably damaging Het
Gdf9 A T 11: 53,328,338 (GRCm39) E431D possibly damaging Het
Ghr T C 15: 3,350,056 (GRCm39) D374G probably damaging Het
Gin1 A T 1: 97,713,875 (GRCm39) I392F probably damaging Het
Greb1l A G 18: 10,529,703 (GRCm39) E786G possibly damaging Het
Grk4 T C 5: 34,888,882 (GRCm39) V342A probably benign Het
Hhipl2 A T 1: 183,204,432 (GRCm39) Y135F possibly damaging Het
Insig1 C T 5: 28,276,706 (GRCm39) R91W probably damaging Het
Kcnf1 C G 12: 17,225,733 (GRCm39) D163H probably benign Het
Kif11 A T 19: 37,375,648 (GRCm39) K190* probably null Het
Ldb2 T G 5: 44,630,814 (GRCm39) E309A probably damaging Het
Lipo4 T G 19: 33,490,073 (GRCm39) D143A probably damaging Het
Map3k6 T G 4: 132,979,784 (GRCm39) I1261S probably damaging Het
Mtus1 C T 8: 41,468,446 (GRCm39) V27I possibly damaging Het
Ndufaf2 C T 13: 108,228,107 (GRCm39) V60I probably benign Het
Or1i2 G T 10: 78,447,974 (GRCm39) T167N probably benign Het
Or2w4 A C 13: 21,795,934 (GRCm39) F68L probably benign Het
Or5w11 T A 2: 87,459,321 (GRCm39) N171K probably benign Het
Pcdhb21 A T 18: 37,648,532 (GRCm39) N554Y probably damaging Het
Pcx A T 19: 4,653,187 (GRCm39) D284V possibly damaging Het
Pcyt1a T C 16: 32,285,937 (GRCm39) S203P probably damaging Het
Pdlim3 A T 8: 46,349,896 (GRCm39) I69F probably damaging Het
Pkp4 T C 2: 59,152,898 (GRCm39) V598A probably benign Het
Plbd1 T C 6: 136,589,304 (GRCm39) I509V probably benign Het
Polr3b C A 10: 84,488,647 (GRCm39) T319N probably benign Het
Ptprj T C 2: 90,293,664 (GRCm39) D380G probably benign Het
Ralgapa1 T G 12: 55,788,321 (GRCm39) R587S probably damaging Het
Scn5a C A 9: 119,315,158 (GRCm39) R1850L probably damaging Het
Ssc5d C A 7: 4,947,042 (GRCm39) T1132K probably benign Het
Stard7 T A 2: 127,137,406 (GRCm39) N285K possibly damaging Het
Tcp11l2 C T 10: 84,449,351 (GRCm39) R439W probably damaging Het
Tecrl T C 5: 83,428,355 (GRCm39) probably null Het
Tep1 A T 14: 51,062,020 (GRCm39) L2570Q probably null Het
Tex14 A T 11: 87,445,754 (GRCm39) D191V probably damaging Het
Tm7sf2 A G 19: 6,113,049 (GRCm39) probably null Het
Tmem132e A G 11: 82,328,196 (GRCm39) K408R probably benign Het
Tube1 A G 10: 39,020,762 (GRCm39) D216G possibly damaging Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Vmn2r82 A G 10: 79,215,253 (GRCm39) H412R possibly damaging Het
Wtip T C 7: 33,816,020 (GRCm39) E352G probably damaging Het
Xirp2 T A 2: 67,340,639 (GRCm39) L960* probably null Het
Zc3h11a A C 1: 133,552,425 (GRCm39) S561A probably benign Het
Zfhx2 A T 14: 55,300,442 (GRCm39) D2436E probably damaging Het
Zfp763 T C 17: 33,238,881 (GRCm39) H88R 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
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
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'- AACGAGGGCCACCATTAAGCAG -3'
(R):5'- AATCGGGTCGCAGGACTCCAAATC -3'

Sequencing Primer
(F):5'- CATTAAGCAGCGACAATAAAACG -3'
(R):5'- TCAGGTGTTCAAGCTCCG -3'
Posted On 2014-04-24