Incidental Mutation 'R7723:Nup35'
ID 595315
Institutional Source Beutler Lab
Gene Symbol Nup35
Ensembl Gene ENSMUSG00000026999
Gene Name nucleoporin 35
Synonyms 2310006I24Rik, 5330402E05Rik
MMRRC Submission 045779-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7723 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 80469156-80490415 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80486375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 230 (I230T)
Ref Sequence ENSEMBL: ENSMUSP00000028382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028382] [ENSMUST00000124377]
AlphaFold Q8R4R6
PDB Structure Crystal structure of the MPPN domain of mouse Nup35 [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028382
AA Change: I230T

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028382
Gene: ENSMUSG00000026999
AA Change: I230T

DomainStartEndE-ValueType
Pfam:Nup35_RRM 166 251 8.2e-30 PFAM
Pfam:Nup35_RRM_2 172 224 9.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124377
SMART Domains Protein: ENSMUSP00000122132
Gene: ENSMUSG00000026999

DomainStartEndE-ValueType
PDB:4LIR|B 150 179 3e-14 PDB
Meta Mutation Damage Score 0.3036 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous knockout through a point mutation in a critical functional domain leads to early death as a result of megacolon caused by colon myopathy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip G A 2: 22,761,574 (GRCm39) probably null Het
Brinp3 C T 1: 146,577,409 (GRCm39) T148I probably damaging Het
C1qa A T 4: 136,623,744 (GRCm39) C153* probably null Het
Camkk1 G T 11: 72,928,058 (GRCm39) R363L probably benign Het
Ccdc80 T G 16: 44,946,798 (GRCm39) probably null Het
Cenpu T C 8: 47,029,349 (GRCm39) S351P probably damaging Het
Chd9 C T 8: 91,741,837 (GRCm39) L1609F unknown Het
Cnr1 T A 4: 33,944,416 (GRCm39) I268N probably damaging Het
Cyp3a59 A T 5: 146,016,154 (GRCm39) I4F probably benign Het
Dph6 A G 2: 114,475,236 (GRCm39) V93A probably damaging Het
Egf T A 3: 129,499,786 (GRCm39) M785L probably benign Het
Fbn1 A T 2: 125,223,954 (GRCm39) C598* probably null Het
Fer T C 17: 64,203,273 (GRCm39) S68P probably damaging Het
Herc1 C T 9: 66,279,158 (GRCm39) T22I probably benign Het
Kat2b A G 17: 53,945,415 (GRCm39) D278G possibly damaging Het
Kdm1a C T 4: 136,285,060 (GRCm39) V520I probably benign Het
Lrrc4c G T 2: 97,460,999 (GRCm39) V542L possibly damaging Het
Lrrtm3 T C 10: 63,924,427 (GRCm39) T247A possibly damaging Het
Macf1 T C 4: 123,326,717 (GRCm39) S4929G probably benign Het
Mbd4 A T 6: 115,822,324 (GRCm39) H428Q possibly damaging Het
Mink1 C G 11: 70,503,736 (GRCm39) Q1183E probably benign Het
Myo9a C T 9: 59,687,141 (GRCm39) P82L probably damaging Het
Nts T C 10: 102,320,784 (GRCm39) T102A probably damaging Het
Nwd2 A T 5: 63,965,347 (GRCm39) T1644S possibly damaging Het
Nynrin T A 14: 56,109,502 (GRCm39) N1536K possibly damaging Het
Or10d5j A T 9: 39,867,920 (GRCm39) Y104N possibly damaging Het
Or13p10 A G 4: 118,522,914 (GRCm39) S67G probably benign Het
Or2at4 A G 7: 99,384,884 (GRCm39) Y178C possibly damaging Het
Or2l13b A T 16: 19,349,358 (GRCm39) L104* probably null Het
Or5d44 A C 2: 88,141,819 (GRCm39) V107G possibly damaging Het
Palld C T 8: 62,164,492 (GRCm39) V400I probably damaging Het
Pank2 T C 2: 131,122,258 (GRCm39) V261A probably damaging Het
Pcdhb3 C A 18: 37,435,565 (GRCm39) N510K probably damaging Het
Pfkfb2 A T 1: 130,635,325 (GRCm39) Y79N probably damaging Het
Phc2 C T 4: 128,616,882 (GRCm39) A385V probably benign Het
Prob1 T C 18: 35,785,942 (GRCm39) T771A possibly damaging Het
Psmb6 T C 11: 70,417,396 (GRCm39) V109A possibly damaging Het
Ptcd1 T C 5: 145,091,639 (GRCm39) T487A probably damaging Het
Ralgapa1 A T 12: 55,788,298 (GRCm39) M595K probably benign Het
Rps12 A T 10: 23,662,752 (GRCm39) V14D probably benign Het
Scn3b C A 9: 40,199,693 (GRCm39) S203* probably null Het
Serinc1 G A 10: 57,403,918 (GRCm39) P15L probably benign Het
Six2 A G 17: 85,995,103 (GRCm39) I93T probably benign Het
Slco1a1 T A 6: 141,854,795 (GRCm39) I619F probably damaging Het
Snx25 A C 8: 46,491,516 (GRCm39) V858G probably damaging Het
Sspo G A 6: 48,441,572 (GRCm39) C1903Y probably damaging Het
Tas2r116 T A 6: 132,832,867 (GRCm39) I156N probably benign Het
Tasp1 G T 2: 139,827,051 (GRCm39) T189K probably damaging Het
Tdrd6 A T 17: 43,936,851 (GRCm39) M1399K probably benign Het
Tecta C A 9: 42,278,232 (GRCm39) C1092F probably damaging Het
Tmem150a G A 6: 72,336,057 (GRCm39) V215I probably damaging Het
Tmem176b C T 6: 48,812,869 (GRCm39) V109I probably benign Het
Trav8d-1 T A 14: 53,016,321 (GRCm39) I69K probably damaging Het
Ttn A T 2: 76,638,419 (GRCm39) L13954I probably damaging Het
Veph1 C A 3: 66,113,093 (GRCm39) C237F possibly damaging Het
Vmn1r121 G A 7: 20,832,119 (GRCm39) T107I probably damaging Het
Zdhhc13 G A 7: 48,458,567 (GRCm39) M300I probably benign Het
Zfp608 T C 18: 55,030,673 (GRCm39) D1089G probably damaging Het
Other mutations in Nup35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00645:Nup35 APN 2 80,485,176 (GRCm39) missense probably damaging 1.00
IGL02039:Nup35 APN 2 80,473,119 (GRCm39) missense probably benign 0.04
IGL02538:Nup35 APN 2 80,474,563 (GRCm39) missense possibly damaging 0.83
IGL03167:Nup35 APN 2 80,488,660 (GRCm39) unclassified probably benign
R0540:Nup35 UTSW 2 80,472,984 (GRCm39) missense probably benign 0.11
R0607:Nup35 UTSW 2 80,472,984 (GRCm39) missense probably benign 0.11
R4029:Nup35 UTSW 2 80,483,318 (GRCm39) missense probably benign 0.04
R4050:Nup35 UTSW 2 80,486,320 (GRCm39) missense probably benign 0.30
R4130:Nup35 UTSW 2 80,486,443 (GRCm39) unclassified probably benign
R4131:Nup35 UTSW 2 80,486,443 (GRCm39) unclassified probably benign
R4477:Nup35 UTSW 2 80,487,487 (GRCm39) unclassified probably benign
R6374:Nup35 UTSW 2 80,488,730 (GRCm39) missense probably benign 0.00
R7191:Nup35 UTSW 2 80,488,723 (GRCm39) missense probably damaging 1.00
R8077:Nup35 UTSW 2 80,469,280 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- GAGAGGGAGTATAGAAGCTATTTCC -3'
(R):5'- AATGCCATTTCACAAACTAGGG -3'

Sequencing Primer
(F):5'- CTAATATGCAGCTTTTATAGGGGATC -3'
(R):5'- TGCCATTTCACAAACTAGGGAAAAG -3'
Posted On 2019-11-12