Incidental Mutation 'IGL02039:Nup35'
ID 184656
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 # IGL02039
Quality Score
Status
Chromosome 2
Chromosomal Location 80469156-80490415 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80473119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 64 (M64T)
Ref Sequence ENSEMBL: ENSMUSP00000122132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028382] [ENSMUST00000124377]
AlphaFold Q8R4R6
Predicted Effect probably benign
Transcript: ENSMUST00000028382
AA Change: M64T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028382
Gene: ENSMUSG00000026999
AA Change: M64T

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
AA Change: M64T

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000122132
Gene: ENSMUSG00000026999
AA Change: M64T

DomainStartEndE-ValueType
PDB:4LIR|B 150 179 3e-14 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127926
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144697
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,247,193 (GRCm39) Y2313* probably null Het
Arhgef12 A G 9: 42,883,563 (GRCm39) I1323T probably benign Het
C87436 A G 6: 86,430,677 (GRCm39) M366V probably benign Het
Cep290 T C 10: 100,350,464 (GRCm39) probably null Het
Cpsf3 T C 12: 21,351,457 (GRCm39) M326T probably damaging Het
Cpxm2 A G 7: 131,649,482 (GRCm39) V64A probably damaging Het
Csnka2ip G A 16: 64,298,957 (GRCm39) S25F probably damaging Het
Cyfip1 T C 7: 55,524,769 (GRCm39) F168L possibly damaging Het
Dhx8 T C 11: 101,654,853 (GRCm39) probably null Het
Dnah2 T A 11: 69,390,038 (GRCm39) I736F probably damaging Het
Erf T C 7: 24,943,969 (GRCm39) E454G possibly damaging Het
Flnc T C 6: 29,450,718 (GRCm39) V1482A probably benign Het
Fmn1 T C 2: 113,195,425 (GRCm39) L375P unknown Het
Foxm1 T C 6: 128,346,323 (GRCm39) Y85H probably damaging Het
Frem3 A G 8: 81,339,600 (GRCm39) E631G probably damaging Het
Fsip1 T C 2: 118,070,895 (GRCm39) D265G probably damaging Het
Gprc5c C T 11: 114,755,312 (GRCm39) Q330* probably null Het
Grin1 C T 2: 25,195,354 (GRCm39) V246M probably damaging Het
Ifitm3 C A 7: 140,590,563 (GRCm39) probably benign Het
Igdcc3 G A 9: 65,091,162 (GRCm39) V648I probably benign Het
Ighv5-2 A G 12: 113,542,214 (GRCm39) I87T probably benign Het
Imp4 G A 1: 34,482,849 (GRCm39) probably null Het
Ino80 T C 2: 119,210,554 (GRCm39) N1327D probably damaging Het
Kif5a T C 10: 127,069,736 (GRCm39) I830V possibly damaging Het
Muc5b A G 7: 141,424,901 (GRCm39) Y4696C possibly damaging Het
Nrl T C 14: 55,759,567 (GRCm39) E120G probably benign Het
Nsmaf T A 4: 6,424,995 (GRCm39) probably benign Het
Nxpe2 T A 9: 48,230,959 (GRCm39) N470I probably benign Het
Oga A T 19: 45,762,142 (GRCm39) V237E probably damaging Het
Or12d17 T A 17: 37,777,340 (GRCm39) I81N possibly damaging Het
Or9i1 C T 19: 13,840,083 (GRCm39) Q309* probably null Het
Os9 G A 10: 126,932,160 (GRCm39) P604S possibly damaging Het
Pitpnm1 A G 19: 4,155,032 (GRCm39) T287A probably benign Het
Pkd2l2 G T 18: 34,568,421 (GRCm39) probably null Het
Pola2 A T 19: 5,998,497 (GRCm39) I355N probably damaging Het
Pp2d1 T A 17: 53,823,022 (GRCm39) R15* probably null Het
Prpf40a T C 2: 53,034,815 (GRCm39) D749G probably damaging Het
Rhoh T C 5: 66,049,981 (GRCm39) S84P probably damaging Het
Slc12a7 T C 13: 73,957,213 (GRCm39) probably null Het
Slc37a2 A G 9: 37,144,980 (GRCm39) I454T probably damaging Het
Smarca2 A G 19: 26,693,537 (GRCm39) D28G probably damaging Het
Socs4 T C 14: 47,527,650 (GRCm39) I195T probably benign Het
Svep1 A G 4: 58,123,980 (GRCm39) probably null Het
Thbd T C 2: 148,248,462 (GRCm39) T469A probably benign Het
Thoc5 T C 11: 4,872,027 (GRCm39) probably null Het
Vmn1r173 G T 7: 23,402,321 (GRCm39) M185I probably benign Het
Vmn1r59 T C 7: 5,457,380 (GRCm39) S127G probably benign Het
Vmn2r6 T C 3: 64,463,610 (GRCm39) E408G probably damaging Het
Yars1 A T 4: 129,109,052 (GRCm39) I428F probably damaging Het
Zglp1 T C 9: 20,978,335 (GRCm39) E14G possibly damaging Het
Other mutations in Nup35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00645:Nup35 APN 2 80,485,176 (GRCm39) missense probably damaging 1.00
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
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 2014-05-07