Incidental Mutation 'IGL02538:Nup35'
ID 297611
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 # IGL02538
Quality Score
Status
Chromosome 2
Chromosomal Location 80469156-80490415 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80474563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 93 (S93R)
Ref Sequence ENSEMBL: ENSMUSP00000122132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028382] [ENSMUST00000124377]
AlphaFold Q8R4R6
Predicted Effect possibly damaging
Transcript: ENSMUST00000028382
AA Change: S93R

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028382
Gene: ENSMUSG00000026999
AA Change: S93R

DomainStartEndE-ValueType
Pfam:Nup35_RRM 166 251 8.2e-30 PFAM
Pfam:Nup35_RRM_2 172 224 9.5e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000124377
AA Change: S93R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122132
Gene: ENSMUSG00000026999
AA Change: S93R

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,136,949 (GRCm39) I171L possibly damaging Het
Amdhd1 C T 10: 93,363,108 (GRCm39) V327I probably damaging Het
Ankrd1 T C 19: 36,092,456 (GRCm39) H257R probably damaging Het
Ano5 G A 7: 51,233,523 (GRCm39) R595H probably damaging Het
Atg2a A G 19: 6,307,658 (GRCm39) T1531A probably benign Het
Bsn A G 9: 107,982,435 (GRCm39) S1001P unknown Het
Btn1a1 T C 13: 23,643,385 (GRCm39) T355A possibly damaging Het
Cd22 G T 7: 30,576,985 (GRCm39) N107K probably benign Het
Ceacam10 A G 7: 24,477,908 (GRCm39) H141R probably damaging Het
Chil3 T C 3: 106,071,445 (GRCm39) D73G probably damaging Het
Cit C T 5: 116,125,048 (GRCm39) Q1536* probably null Het
Dmgdh T A 13: 93,845,261 (GRCm39) I418K possibly damaging Het
Efcab6 T A 15: 83,938,722 (GRCm39) probably benign Het
Eif4g2 T C 7: 110,678,523 (GRCm39) I110V probably benign Het
Fam217a T C 13: 35,095,096 (GRCm39) Y221C probably damaging Het
Fezf1 T A 6: 23,246,557 (GRCm39) K342N probably damaging Het
Git2 A T 5: 114,869,047 (GRCm39) probably benign Het
Gm8126 A T 14: 43,117,047 (GRCm39) R63W probably benign Het
Ica1l T C 1: 60,049,345 (GRCm39) K203E probably benign Het
Iigp1c A T 18: 60,378,944 (GRCm39) K160* probably null Het
Inpp5d A G 1: 87,623,088 (GRCm39) M393V probably null Het
Kbtbd11 A G 8: 15,078,841 (GRCm39) D480G probably damaging Het
Klhl1 T C 14: 96,477,649 (GRCm39) N473S probably benign Het
Krt1c A G 15: 101,719,589 (GRCm39) S694P unknown Het
Lhfpl6 C T 3: 52,950,732 (GRCm39) A2V probably benign Het
Lipk T A 19: 34,024,279 (GRCm39) L354Q probably damaging Het
Luzp2 T A 7: 54,861,546 (GRCm39) L225* probably null Het
Mknk1 C T 4: 115,717,288 (GRCm39) Q58* probably null Het
Mmut A T 17: 41,249,510 (GRCm39) I162F probably damaging Het
Nol11 T A 11: 107,064,199 (GRCm39) M518L probably benign Het
Nubpl T C 12: 52,357,477 (GRCm39) probably benign Het
Or2t48 T C 11: 58,420,816 (GRCm39) probably benign Het
Or5ak22 T A 2: 85,230,647 (GRCm39) I77F probably damaging Het
Pex3 T C 10: 13,411,344 (GRCm39) E178G possibly damaging Het
Rad23b C A 4: 55,370,457 (GRCm39) P161Q possibly damaging Het
Sipa1l2 A G 8: 126,178,716 (GRCm39) S1128P probably damaging Het
Terb2 T C 2: 122,035,289 (GRCm39) probably benign Het
Trim72 A G 7: 127,603,942 (GRCm39) Y96C probably damaging Het
Tyk2 T C 9: 21,022,339 (GRCm39) D830G possibly damaging Het
Uri1 A G 7: 37,664,916 (GRCm39) S259P probably benign Het
Usp38 A T 8: 81,712,187 (GRCm39) L616H probably damaging Het
Uspl1 T A 5: 149,125,269 (GRCm39) C73S probably damaging Het
Wdr7 C A 18: 63,929,306 (GRCm39) D1047E probably benign 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
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 2015-04-16