Incidental Mutation 'IGL03167:Nup35'
ID 411701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup35
Ensembl Gene ENSMUSG00000026999
Gene Name nucleoporin 35
Synonyms 2310006I24Rik, 5330402E05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03167
Quality Score
Status
Chromosome 2
Chromosomal Location 80469156-80490415 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 80488660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028382] [ENSMUST00000124377]
AlphaFold Q8R4R6
Predicted Effect probably benign
Transcript: ENSMUST00000028382
SMART Domains Protein: ENSMUSP00000028382
Gene: ENSMUSG00000026999

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A C 6: 34,834,594 (GRCm39) K921T possibly damaging Het
Agtpbp1 A T 13: 59,679,894 (GRCm39) probably benign Het
Ankrd22 A T 19: 34,143,174 (GRCm39) M1K probably null Het
Ano5 G A 7: 51,235,259 (GRCm39) V698I probably damaging Het
Ccnh A G 13: 85,345,685 (GRCm39) probably benign Het
Col15a1 A T 4: 47,282,635 (GRCm39) I771F probably damaging Het
Dmrt1 T C 19: 25,523,257 (GRCm39) S203P possibly damaging Het
Exoc5 A T 14: 49,288,802 (GRCm39) V82E probably damaging Het
Ffar3 A T 7: 30,554,780 (GRCm39) V180E probably damaging Het
Fhad1 T C 4: 141,700,108 (GRCm39) S381G probably benign Het
Foxf1 C A 8: 121,811,647 (GRCm39) Y170* probably null Het
Glis1 A G 4: 107,293,102 (GRCm39) D75G possibly damaging Het
Gpr151 T C 18: 42,711,439 (GRCm39) H413R probably benign Het
Gtf3c1 T C 7: 125,269,752 (GRCm39) probably null Het
Htt T A 5: 34,976,330 (GRCm39) F711I probably damaging Het
Il1rapl1 A G X: 85,790,867 (GRCm39) I691T possibly damaging Het
Iqgap2 T C 13: 95,821,406 (GRCm39) Y579C probably benign Het
Lingo3 A G 10: 80,671,178 (GRCm39) S251P probably damaging Het
Mbl1 T A 14: 40,880,543 (GRCm39) S144T probably benign Het
Musk A T 4: 58,366,821 (GRCm39) R462W possibly damaging Het
Mynn T C 3: 30,663,191 (GRCm39) L373P probably damaging Het
Myoz2 G A 3: 122,800,139 (GRCm39) R230* probably null Het
Or14a259 C T 7: 86,013,128 (GRCm39) C139Y probably damaging Het
Or2d4 A G 7: 106,543,852 (GRCm39) S119P probably damaging Het
Or5ak4 C T 2: 85,161,664 (GRCm39) D193N probably benign Het
Or5m3 T A 2: 85,838,511 (GRCm39) Y130* probably null Het
Pira2 A T 7: 3,843,919 (GRCm39) S618T probably damaging Het
Plch1 G A 3: 63,630,165 (GRCm39) probably benign Het
Pparg T G 6: 115,450,188 (GRCm39) F396V probably damaging Het
Scaper T C 9: 55,767,108 (GRCm39) E441G probably damaging Het
Serpinb2 T A 1: 107,450,485 (GRCm39) C161S probably benign Het
Skint5 C T 4: 113,751,047 (GRCm39) E333K unknown Het
Slc22a8 C T 19: 8,587,322 (GRCm39) P461S probably damaging Het
Slc38a6 C T 12: 73,397,311 (GRCm39) Q318* probably null Het
Sycp2 T C 2: 178,021,291 (GRCm39) K512E probably damaging Het
Tas2r103 T A 6: 133,013,623 (GRCm39) N148Y probably damaging Het
Tcf7l1 A G 6: 72,609,979 (GRCm39) M257T possibly damaging Het
Tert T A 13: 73,788,119 (GRCm39) N792K probably damaging Het
Thada A T 17: 84,766,277 (GRCm39) V43E probably damaging Het
Trabd2b T C 4: 114,467,195 (GRCm39) S475P probably benign Het
Vmn2r117 A G 17: 23,696,681 (GRCm39) V242A probably damaging Het
Ypel3 A T 7: 126,379,247 (GRCm39) I107F probably damaging Het
Zfp352 T C 4: 90,112,939 (GRCm39) S360P 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
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
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
Posted On 2016-08-02