Incidental Mutation 'IGL01323:Nup43'
ID 74119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup43
Ensembl Gene ENSMUSG00000040034
Gene Name nucleoporin 43
Synonyms 2610529I12Rik, 2610016K01Rik, 43kDa, p42
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL01323
Quality Score
Status
Chromosome 10
Chromosomal Location 7543267-7554645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7545320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 83 (F83I)
Ref Sequence ENSEMBL: ENSMUSP00000046732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040135] [ENSMUST00000159977] [ENSMUST00000162682]
AlphaFold P59235
Predicted Effect probably benign
Transcript: ENSMUST00000040135
AA Change: F83I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046732
Gene: ENSMUSG00000040034
AA Change: F83I

DomainStartEndE-ValueType
Blast:WD40 1 48 1e-15 BLAST
WD40 64 101 3.57e0 SMART
WD40 124 157 2.45e2 SMART
WD40 160 199 9.55e0 SMART
WD40 206 246 2.15e-4 SMART
WD40 250 290 2.19e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162527
Predicted Effect probably benign
Transcript: ENSMUST00000162682
SMART Domains Protein: ENSMUSP00000124246
Gene: ENSMUSG00000019795

DomainStartEndE-ValueType
Pfam:PCMT 1 66 7.5e-26 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,713,415 (GRCm39) D1272G probably damaging Het
Ascl2 A G 7: 142,522,125 (GRCm39) S108P probably benign Het
B3gat1 T C 9: 26,667,206 (GRCm39) V146A possibly damaging Het
Barhl1 C T 2: 28,805,558 (GRCm39) S45N probably benign Het
Birc6 C T 17: 74,929,920 (GRCm39) A2370V probably damaging Het
C1qtnf7 A G 5: 43,766,602 (GRCm39) D67G possibly damaging Het
Cand2 A G 6: 115,762,086 (GRCm39) T171A probably benign Het
Ccdc77 T C 6: 120,311,757 (GRCm39) Q247R probably benign Het
Cenpp A T 13: 49,801,118 (GRCm39) V100D probably damaging Het
Cep135 A G 5: 76,739,612 (GRCm39) T3A probably benign Het
Eef2k T C 7: 120,484,038 (GRCm39) probably benign Het
Fga T C 3: 82,937,518 (GRCm39) S132P probably damaging Het
Gpr6 T A 10: 40,947,555 (GRCm39) N9I possibly damaging Het
Gvin2 A G 7: 105,546,009 (GRCm39) S2348P possibly damaging Het
Hacd3 A G 9: 64,905,587 (GRCm39) F184L probably damaging Het
Heatr1 T C 13: 12,413,819 (GRCm39) I132T possibly damaging Het
Igfbp7 A G 5: 77,499,884 (GRCm39) probably benign Het
Ighv8-6 T C 12: 115,129,477 (GRCm39) D93G possibly damaging Het
Izumo3 A G 4: 92,034,627 (GRCm39) probably benign Het
Jade2 T C 11: 51,716,165 (GRCm39) T347A possibly damaging Het
Kif18a A G 2: 109,128,787 (GRCm39) T419A probably benign Het
Krt34 A G 11: 99,929,606 (GRCm39) S267P possibly damaging Het
Krt4 T G 15: 101,828,716 (GRCm39) K383Q probably damaging Het
Lgals7 G T 7: 28,564,989 (GRCm39) E42D probably benign Het
Morc2b A G 17: 33,356,293 (GRCm39) V493A possibly damaging Het
Mtif2 T A 11: 29,491,447 (GRCm39) S557R probably damaging Het
Oosp2 A G 19: 11,624,825 (GRCm39) L155S probably damaging Het
Or1o1 G T 17: 37,717,031 (GRCm39) M197I probably benign Het
Plxnd1 T A 6: 115,943,760 (GRCm39) T1180S possibly damaging Het
Prpf39 T A 12: 65,089,498 (GRCm39) F79I possibly damaging Het
Prph G A 15: 98,956,517 (GRCm39) S465N possibly damaging Het
Purg A T 8: 33,876,631 (GRCm39) I90L probably damaging Het
Pxdn C A 12: 30,037,136 (GRCm39) Q305K probably benign Het
R3hdm1 G A 1: 128,144,280 (GRCm39) S816N probably benign Het
Src G A 2: 157,311,423 (GRCm39) G461R probably damaging Het
Tmem201 G A 4: 149,804,045 (GRCm39) probably benign Het
Tnfrsf22 G A 7: 143,197,111 (GRCm39) P76L probably damaging Het
Triml1 T C 8: 43,591,600 (GRCm39) probably null Het
Upp1 A G 11: 9,086,100 (GRCm39) *312W probably null Het
Wdfy3 G T 5: 102,042,930 (GRCm39) S1940R probably damaging Het
Xpc T C 6: 91,469,335 (GRCm39) Y804C probably damaging Het
Xrn2 C T 2: 146,876,767 (GRCm39) probably benign Het
Zfp106 A T 2: 120,354,945 (GRCm39) D1275E possibly damaging Het
Other mutations in Nup43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02029:Nup43 APN 10 7,543,347 (GRCm39) missense possibly damaging 0.87
IGL02375:Nup43 APN 10 7,549,358 (GRCm39) missense probably damaging 1.00
R0413:Nup43 UTSW 10 7,546,791 (GRCm39) missense probably benign 0.05
R1061:Nup43 UTSW 10 7,543,435 (GRCm39) missense probably damaging 0.99
R1892:Nup43 UTSW 10 7,549,373 (GRCm39) missense probably damaging 0.99
R2960:Nup43 UTSW 10 7,546,713 (GRCm39) missense probably benign
R3551:Nup43 UTSW 10 7,550,778 (GRCm39) missense possibly damaging 0.93
R4772:Nup43 UTSW 10 7,554,433 (GRCm39) nonsense probably null
R6179:Nup43 UTSW 10 7,554,437 (GRCm39) missense probably benign 0.40
R6346:Nup43 UTSW 10 7,550,826 (GRCm39) missense probably damaging 1.00
R8073:Nup43 UTSW 10 7,546,713 (GRCm39) missense probably benign
R8220:Nup43 UTSW 10 7,552,097 (GRCm39) missense probably benign
Posted On 2013-10-07