Incidental Mutation 'IGL02375:Nup43'
ID 291084
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 # IGL02375
Quality Score
Status
Chromosome 10
Chromosomal Location 7543267-7554645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7549358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 171 (D171G)
Ref Sequence ENSEMBL: ENSMUSP00000046732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040135] [ENSMUST00000159977] [ENSMUST00000162682]
AlphaFold P59235
Predicted Effect probably damaging
Transcript: ENSMUST00000040135
AA Change: D171G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046732
Gene: ENSMUSG00000040034
AA Change: D171G

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: 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,854,813 (GRCm39) K76N possibly damaging Het
Agxt A G 1: 93,063,425 (GRCm39) E109G probably damaging Het
Alcam T C 16: 52,109,299 (GRCm39) T325A probably benign Het
Apol7c T C 15: 77,413,049 (GRCm39) E67G probably damaging Het
Bco1 C A 8: 117,840,178 (GRCm39) S232Y probably benign Het
Cacna1c A T 6: 118,652,884 (GRCm39) V763D probably damaging Het
Ccdc15 T C 9: 37,215,628 (GRCm39) D618G probably damaging Het
Cimip1 A G 2: 173,364,496 (GRCm39) M14V probably benign Het
Col6a5 T C 9: 105,783,312 (GRCm39) N1603S unknown Het
Cyp4v3 A G 8: 45,761,411 (GRCm39) probably null Het
Eml5 A T 12: 98,810,346 (GRCm39) V870E probably damaging Het
Epn2 A G 11: 61,410,497 (GRCm39) V512A probably damaging Het
Farp2 A G 1: 93,504,185 (GRCm39) R321G probably damaging Het
Garin3 G T 11: 46,297,379 (GRCm39) V228L probably damaging Het
Gprasp1 T C X: 134,701,552 (GRCm39) S582P probably damaging Het
Grhl2 T C 15: 37,291,821 (GRCm39) V303A probably damaging Het
Grik1 A T 16: 87,743,444 (GRCm39) F594L probably damaging Het
Hivep1 A G 13: 42,309,925 (GRCm39) K722E probably benign Het
Htr5b G A 1: 121,455,564 (GRCm39) R119C probably damaging Het
Ifit2 T C 19: 34,551,737 (GRCm39) S426P probably benign Het
Kif13a T C 13: 46,978,698 (GRCm39) Y234C probably damaging Het
Mios T A 6: 8,222,598 (GRCm39) F511I probably benign Het
Mtfmt T C 9: 65,346,849 (GRCm39) W148R probably damaging Het
Myo1c C A 11: 75,552,400 (GRCm39) T391N probably benign Het
Nlrp1a A T 11: 71,004,339 (GRCm39) L710* probably null Het
Nlrp1b A G 11: 71,052,506 (GRCm39) I971T probably damaging Het
Or5b12b A G 19: 12,861,305 (GRCm39) E20G probably benign Het
P2rx7 T C 5: 122,811,719 (GRCm39) probably benign Het
Pgap6 T A 17: 26,338,473 (GRCm39) Y512N probably benign Het
Poli C T 18: 70,656,363 (GRCm39) G155R probably damaging Het
Rad9b T C 5: 122,471,405 (GRCm39) S220G possibly damaging Het
Rgn C T X: 20,416,700 (GRCm39) S28L probably damaging Het
Tcp11l2 G A 10: 84,440,932 (GRCm39) probably null Het
Tenm4 G A 7: 96,353,344 (GRCm39) V379I possibly damaging Het
Thsd7a A T 6: 12,343,264 (GRCm39) C1118S probably damaging Het
Trpm7 A G 2: 126,667,664 (GRCm39) Y776H probably damaging Het
Trpv4 T C 5: 114,774,418 (GRCm39) N222S probably benign Het
Tut1 C T 19: 8,941,403 (GRCm39) R397C probably damaging Het
Vmn1r72 T A 7: 11,403,672 (GRCm39) T259S probably benign Het
Wdr17 A G 8: 55,149,423 (GRCm39) S2P possibly damaging Het
Other mutations in Nup43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Nup43 APN 10 7,545,320 (GRCm39) missense probably benign
IGL02029:Nup43 APN 10 7,543,347 (GRCm39) missense possibly damaging 0.87
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 2015-04-16