Incidental Mutation 'R3551:Nup43'
ID 268345
Institutional Source Beutler Lab
Gene Symbol Nup43
Ensembl Gene ENSMUSG00000040034
Gene Name nucleoporin 43
Synonyms 2610529I12Rik, 2610016K01Rik, 43kDa, p42
MMRRC Submission 040668-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R3551 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 7543267-7554645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7550778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 216 (D216G)
Ref Sequence ENSEMBL: ENSMUSP00000046732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040135] [ENSMUST00000159977] [ENSMUST00000162682]
AlphaFold P59235
Predicted Effect possibly damaging
Transcript: ENSMUST00000040135
AA Change: D216G

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046732
Gene: ENSMUSG00000040034
AA Change: D216G

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,152,450 (GRCm39) Y866N probably damaging Het
Adam24 G C 8: 41,132,632 (GRCm39) W33C probably benign Het
Adgrl2 A T 3: 148,564,599 (GRCm39) V327E probably damaging Het
Aqp7 T A 4: 41,045,329 (GRCm39) N17I probably benign Het
Bicra T A 7: 15,713,658 (GRCm39) Q848L probably benign Het
C4b T C 17: 34,960,846 (GRCm39) E240G possibly damaging Het
Ccni T C 5: 93,335,620 (GRCm39) S173G probably benign Het
Clca3a2 T A 3: 144,508,842 (GRCm39) N50I probably damaging Het
Dcaf7 A G 11: 105,945,622 (GRCm39) T324A probably benign Het
Dnah12 G A 14: 26,492,929 (GRCm39) R1230H probably benign Het
Dsg4 G A 18: 20,584,813 (GRCm39) V176M probably damaging Het
Ect2l A G 10: 18,039,141 (GRCm39) I339T probably damaging Het
Edc4 A T 8: 106,612,126 (GRCm39) I138F probably damaging Het
Ercc6l2 T A 13: 63,992,409 (GRCm39) V401E probably damaging Het
Gm3269 T A 14: 16,033,003 (GRCm39) V260D possibly damaging Het
Gm4076 C T 13: 85,275,269 (GRCm39) noncoding transcript Het
Gm4922 A T 10: 18,660,244 (GRCm39) N159K probably benign Het
Gm5134 G T 10: 75,836,281 (GRCm39) A421S probably benign Het
Hrc G C 7: 44,985,757 (GRCm39) E303Q possibly damaging Het
Ipo4 A G 14: 55,870,560 (GRCm39) V288A probably benign Het
Kng2 A G 16: 22,830,745 (GRCm39) probably null Het
Lrfn1 T C 7: 28,159,479 (GRCm39) L466P possibly damaging Het
Magi1 T A 6: 93,676,610 (GRCm39) K916N probably damaging Het
Mms19 T C 19: 41,938,237 (GRCm39) T720A probably benign Het
Muc5b A G 7: 141,415,072 (GRCm39) T2673A possibly damaging Het
Myo15a C T 11: 60,400,489 (GRCm39) A1767V possibly damaging Het
Npas2 A T 1: 39,326,643 (GRCm39) M43L probably benign Het
Or1e19 T C 11: 73,316,678 (GRCm39) I44V probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pcdhga6 G T 18: 37,841,270 (GRCm39) R330L probably benign Het
Pear1 A G 3: 87,665,439 (GRCm39) F145L probably benign Het
Pgap1 A G 1: 54,569,302 (GRCm39) S355P possibly damaging Het
Prr14l A T 5: 32,985,963 (GRCm39) probably null Het
Ptpn12 T C 5: 21,194,047 (GRCm39) K742E possibly damaging Het
Ryr1 T A 7: 28,756,422 (GRCm39) Q3464L probably damaging Het
Sema4c G C 1: 36,592,804 (GRCm39) T138S probably benign Het
Slc4a2 C T 5: 24,635,099 (GRCm39) T168M probably benign Het
Slco1a7 T C 6: 141,654,322 (GRCm39) K647E probably benign Het
Spice1 G T 16: 44,178,232 (GRCm39) S85I probably damaging Het
Thrb T A 14: 17,963,214 (GRCm38) I59N probably damaging Het
Trav7-1 A G 14: 52,892,756 (GRCm39) D103G probably damaging Het
Ubap2l G T 3: 89,922,758 (GRCm39) T766N unknown Het
Zfp692 C T 11: 58,200,254 (GRCm39) T170I possibly damaging Het
Zfp704 A G 3: 9,539,585 (GRCm39) V255A probably damaging Het
Zfp759 T C 13: 67,287,031 (GRCm39) V194A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AGACTATGTATTGGCGTGGC -3'
(R):5'- ATGCAAGCTTTGTGTCCCCAC -3'

Sequencing Primer
(F):5'- ATGTGATTGCAGGTACCCAC -3'
(R):5'- CAATACTTACTTTCAGCCTCATGAG -3'
Posted On 2015-02-19