Incidental Mutation 'R4050:Nup35'
ID 314089
Institutional Source Beutler Lab
Gene Symbol Nup35
Ensembl Gene ENSMUSG00000026999
Gene Name nucleoporin 35
Synonyms 2310006I24Rik, 5330402E05Rik
MMRRC Submission 040968-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4050 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 80469156-80490415 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80486320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 212 (I212V)
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 probably benign
Transcript: ENSMUST00000028382
AA Change: I212V

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028382
Gene: ENSMUSG00000026999
AA Change: I212V

DomainStartEndE-ValueType
Pfam:Nup35_RRM 166 251 8.2e-30 PFAM
Pfam:Nup35_RRM_2 172 224 9.5e-15 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000124377
AA Change: I188M
SMART Domains Protein: ENSMUSP00000122132
Gene: ENSMUSG00000026999
AA Change: I188M

DomainStartEndE-ValueType
PDB:4LIR|B 150 179 3e-14 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127926
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135305
Meta Mutation Damage Score 0.0736 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 97% (58/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,029,449 (GRCm39) D473G probably damaging Het
Abca1 T A 4: 53,044,144 (GRCm39) Q1826L probably damaging Het
Apob G A 12: 8,065,390 (GRCm39) V4087I probably benign Het
Atp10b G A 11: 43,150,363 (GRCm39) A1354T probably benign Het
Baz1a A G 12: 54,976,404 (GRCm39) V424A probably benign Het
Cdc20b G A 13: 113,200,819 (GRCm39) D180N probably benign Het
Cep57l1 G T 10: 41,605,356 (GRCm39) R130S probably damaging Het
Ddb1 A G 19: 10,605,171 (GRCm39) D1053G probably benign Het
Ddx39a T A 8: 84,448,863 (GRCm39) M246K probably benign Het
Dip2a G A 10: 76,114,441 (GRCm39) T1013M probably damaging Het
Edar G T 10: 58,445,769 (GRCm39) T265N possibly damaging Het
Fcgbpl1 T C 7: 27,852,410 (GRCm39) V1311A possibly damaging Het
Gbp8 T A 5: 105,179,104 (GRCm39) I132F probably damaging Het
Gga1 A G 15: 78,775,691 (GRCm39) D382G probably benign Het
Ggps1 T C 13: 14,228,284 (GRCm39) K300E probably benign Het
Gm10518 C A 1: 179,631,378 (GRCm39) probably benign Het
Gm8074 G A 9: 78,229,618 (GRCm39) noncoding transcript Het
H2-Eb1 T A 17: 34,533,342 (GRCm39) L188Q probably damaging Het
Heatr6 A G 11: 83,646,599 (GRCm39) S95G probably damaging Het
Hnf1a T A 5: 115,108,633 (GRCm39) N91Y probably damaging Het
Ints10 C T 8: 69,280,003 (GRCm39) S710F probably damaging Het
Kazn C T 4: 141,834,215 (GRCm39) E614K unknown Het
Kif26a T A 12: 112,146,350 (GRCm39) M1812K probably benign Het
Lmo7 A T 14: 102,139,713 (GRCm39) K488* probably null Het
Mad1l1 A G 5: 140,118,571 (GRCm39) S457P probably damaging Het
Met A G 6: 17,533,983 (GRCm39) T645A probably benign Het
Mpp4 T C 1: 59,185,903 (GRCm39) probably null Het
Mycl A T 4: 122,890,632 (GRCm39) probably null Het
Ncbp1 G A 4: 46,147,483 (GRCm39) R110H probably damaging Het
Nfasc G T 1: 132,538,043 (GRCm39) probably benign Het
Or2y8 T G 11: 52,035,961 (GRCm39) Y132S probably damaging Het
Or4p20 A G 2: 88,253,967 (GRCm39) M134T probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Ovgp1 A G 3: 105,893,912 (GRCm39) probably benign Het
Pcgf5 G A 19: 36,420,311 (GRCm39) S181N probably damaging Het
Plk2 C T 13: 110,536,400 (GRCm39) T617I probably damaging Het
Polq A T 16: 36,913,182 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,440,881 (GRCm39) L92P probably damaging Het
Pramel24 T C 4: 143,453,692 (GRCm39) S267P probably benign Het
Prg4 G C 1: 150,330,510 (GRCm39) probably benign Het
Prune1 T C 3: 95,169,542 (GRCm39) K220R possibly damaging Het
Rab3gap2 G A 1: 185,004,840 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall3 G A 18: 81,014,697 (GRCm39) A1005V probably benign Het
Samd15 T G 12: 87,247,406 (GRCm39) N30K probably benign Het
Scn8a A T 15: 100,911,294 (GRCm39) K905* probably null Het
Scrib G A 15: 75,923,322 (GRCm39) R1245W possibly damaging Het
Skint4 C T 4: 111,981,811 (GRCm39) S260L probably benign Het
Slc29a2 A T 19: 5,079,481 (GRCm39) M339L possibly damaging Het
Slx9 T C 10: 77,350,164 (GRCm39) R75G possibly damaging Het
Spire1 G T 18: 67,662,101 (GRCm39) probably null Het
Synpo2 T C 3: 122,907,927 (GRCm39) D463G possibly damaging Het
Taf4 C A 2: 179,573,805 (GRCm39) G688C probably damaging Het
Tasor2 A G 13: 3,623,507 (GRCm39) S2148P probably benign Het
Tpte T A 8: 22,856,000 (GRCm39) V600E probably damaging Het
Ttn A G 2: 76,651,510 (GRCm39) V10953A probably benign Het
Vav2 T C 2: 27,178,691 (GRCm39) Y333C probably benign Het
Vav2 A G 2: 27,181,415 (GRCm39) S311P probably damaging Het
Zbtb26 A C 2: 37,327,000 (GRCm39) M1R probably null Het
Zfp26 G A 9: 20,353,525 (GRCm39) P88L probably benign Het
Zfp324 T C 7: 12,704,794 (GRCm39) F328L 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
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
R7723:Nup35 UTSW 2 80,486,375 (GRCm39) missense possibly damaging 0.81
R8077:Nup35 UTSW 2 80,469,280 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TCAGGGAGTATTTGCCACATG -3'
(R):5'- GCCATTTCACAAACTAGGGAAAAG -3'

Sequencing Primer
(F):5'- CAGGGAGTATTTGCCACATGTTTTG -3'
(R):5'- TGAGGCTAAAGGACAAACACTAATG -3'
Posted On 2015-04-30