Incidental Mutation 'IGL00585:Nup133'
ID 12804
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 # IGL00585
Quality Score
Status
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 124636733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 956 (A956V)
Ref Sequence ENSEMBL: ENSMUSP00000048084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000127664]
AlphaFold Q8R0G9
Predicted Effect probably damaging
Transcript: ENSMUST00000044795
AA Change: A956V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: A956V

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: ENSMUST00000213089
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,519,294 (GRCm39) I664F probably damaging Het
Abcg4 A T 9: 44,192,920 (GRCm39) M142K probably benign Het
Afdn A G 17: 14,104,890 (GRCm39) T1198A probably damaging Het
Angptl2 T C 2: 33,136,239 (GRCm39) S475P probably damaging Het
Ap3s2 T C 7: 79,565,824 (GRCm39) E34G probably benign Het
C1qtnf9 T C 14: 61,017,442 (GRCm39) F324S probably damaging Het
Cacng7 A G 7: 3,414,547 (GRCm39) Y170C probably damaging Het
Ceacam18 G A 7: 43,286,435 (GRCm39) V103M possibly damaging Het
Chrnb1 G A 11: 69,684,742 (GRCm39) P144S probably damaging Het
Chuk T C 19: 44,066,751 (GRCm39) H652R probably damaging Het
Ckap5 C T 2: 91,450,170 (GRCm39) L1948F probably damaging Het
Clstn1 A T 4: 149,722,769 (GRCm39) H469L probably benign Het
Csf2rb2 C T 15: 78,169,047 (GRCm39) G594S possibly damaging Het
Ctsq A T 13: 61,184,941 (GRCm39) D248E probably benign Het
Ep400 A T 5: 110,903,771 (GRCm39) I276K possibly damaging Het
Gbf1 G A 19: 46,272,688 (GRCm39) probably null Het
Gldn T A 9: 54,245,748 (GRCm39) I433N probably damaging Het
Gm136 T A 4: 34,752,322 (GRCm39) E69V probably damaging Het
Gm28177 T C 1: 52,121,738 (GRCm39) probably null Het
Gtf2h2 A G 13: 100,617,506 (GRCm39) probably benign Het
Ints12 T C 3: 132,806,570 (GRCm39) probably null Het
Ltbp4 T C 7: 27,026,158 (GRCm39) D615G probably damaging Het
Mgme1 C T 2: 144,113,909 (GRCm39) P4S probably benign Het
Nae1 A G 8: 105,252,910 (GRCm39) probably null Het
Oacyl T A 18: 65,882,711 (GRCm39) M529K possibly damaging Het
Osbpl1a T A 18: 12,890,683 (GRCm39) E519V possibly damaging Het
Pacs1 A T 19: 5,203,726 (GRCm39) V333E probably damaging Het
Pik3c3 T G 18: 30,436,131 (GRCm39) probably benign Het
Polh C T 17: 46,483,169 (GRCm39) probably benign Het
Ppp6r3 A G 19: 3,540,826 (GRCm39) C431R probably damaging Het
Pprc1 T C 19: 46,051,087 (GRCm39) S206P possibly damaging Het
Rab20 A G 8: 11,504,212 (GRCm39) Y163H probably benign Het
Sde2 T A 1: 180,683,383 (GRCm39) C46S possibly damaging Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Spata20 T G 11: 94,369,943 (GRCm39) L784F probably damaging Het
Tnnt1 A C 7: 4,510,549 (GRCm39) M224R possibly damaging Het
Trank1 T C 9: 111,178,358 (GRCm39) F349L possibly damaging Het
Ttf1 T C 2: 28,963,895 (GRCm39) probably benign Het
Usp54 T A 14: 20,623,905 (GRCm39) S651C probably damaging Het
Vps45 A G 3: 95,907,378 (GRCm39) *571R probably null Het
Yod1 G A 1: 130,646,870 (GRCm39) G249E probably damaging Het
Ythdc2 A G 18: 44,997,428 (GRCm39) Y340C probably damaging Het
Zfp366 G A 13: 99,383,080 (GRCm39) probably benign Het
Zfp648 T A 1: 154,079,935 (GRCm39) D31E possibly 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
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
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 2012-12-06