Incidental Mutation 'IGL00645:Nup35'
ID12809
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup35
Ensembl Gene ENSMUSG00000026999
Gene Namenucleoporin 35
Synonyms2310006I24Rik, 5330402E05Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00645
Quality Score
Status
Chromosome2
Chromosomal Location80617236-80658906 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80654832 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 192 (F192L)
Ref Sequence ENSEMBL: ENSMUSP00000028382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028382] [ENSMUST00000124377]
PDB Structure Crystal structure of the MPPN domain of mouse Nup35 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000028382
AA Change: F192L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028382
Gene: ENSMUSG00000026999
AA Change: F192L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127926
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135305
Coding Region Coverage
Validation Efficiency
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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c21 A G 13: 4,576,313 D112G probably damaging Het
Cd2 T C 3: 101,283,223 N135D probably damaging Het
Coq10b A G 1: 55,061,309 T51A probably benign Het
Cst10 T A 2: 149,409,979 C125S probably damaging Het
Fam135b A G 15: 71,462,546 V933A probably damaging Het
Fbn1 A G 2: 125,317,103 probably benign Het
Kcna10 G A 3: 107,195,465 E471K possibly damaging Het
Msl1 T A 11: 98,805,421 C598S probably damaging Het
Sec16b T A 1: 157,566,719 V1026D probably damaging Het
Serpina3f T C 12: 104,217,340 F154L probably benign Het
Other mutations in Nup35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02039:Nup35 APN 2 80642775 missense probably benign 0.04
IGL02538:Nup35 APN 2 80644219 missense possibly damaging 0.83
IGL03167:Nup35 APN 2 80658316 unclassified probably benign
R0540:Nup35 UTSW 2 80642640 missense probably benign 0.11
R0607:Nup35 UTSW 2 80642640 missense probably benign 0.11
R4029:Nup35 UTSW 2 80652974 missense probably benign 0.04
R4050:Nup35 UTSW 2 80655976 missense probably benign 0.30
R4130:Nup35 UTSW 2 80656099 unclassified probably benign
R4131:Nup35 UTSW 2 80656099 unclassified probably benign
R4477:Nup35 UTSW 2 80657143 unclassified probably benign
R6374:Nup35 UTSW 2 80658386 missense probably benign 0.00
R7191:Nup35 UTSW 2 80658379 missense probably damaging 1.00
R7723:Nup35 UTSW 2 80656031 missense possibly damaging 0.81
R8077:Nup35 UTSW 2 80638936 splice site probably null
Posted On2012-12-06