Incidental Mutation 'IGL03328:Nup205'
ID 416738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup205
Ensembl Gene ENSMUSG00000038759
Gene Name nucleoporin 205
Synonyms 3830404O05Rik
Accession Numbers

NCBI RefSeq: NM_027513.1; MGI:2141625

Essential gene? Probably essential (E-score: 0.960) question?
Stock # IGL03328
Quality Score
Status
Chromosome 6
Chromosomal Location 35177421-35247596 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35232414 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1552 (L1552P)
Ref Sequence ENSEMBL: ENSMUSP00000144126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043815] [ENSMUST00000170234] [ENSMUST00000201374]
AlphaFold A0A0J9YUD5
Predicted Effect probably damaging
Transcript: ENSMUST00000043815
AA Change: L1499P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: L1499P

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Nup192 14 1684 N/A PFAM
low complexity region 1995 2005 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170234
SMART Domains Protein: ENSMUSP00000130033
Gene: ENSMUSG00000038759

DomainStartEndE-ValueType
Pfam:DUF3414 13 322 9.7e-98 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000201374
AA Change: L1552P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: L1552P

DomainStartEndE-ValueType
low complexity region 36 50 N/A INTRINSIC
Pfam:Nup192 67 1737 N/A PFAM
low complexity region 2048 2058 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201842
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 nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]
Allele List at MGI

All alleles(32) : Targeted(2) Gene trapped(30)

Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik A T 2: 23,212,805 (GRCm38) Y185F possibly damaging Het
Acaca A T 11: 84,320,529 (GRCm38) M1556L probably benign Het
Aicda T G 6: 122,562,437 (GRCm38) D187E probably benign Het
Arfgap3 A C 15: 83,343,081 (GRCm38) F43L probably damaging Het
AW551984 T C 9: 39,597,116 (GRCm38) E368G probably damaging Het
Bbs4 T C 9: 59,344,118 (GRCm38) E33G probably damaging Het
Bcas1 T A 2: 170,366,396 (GRCm38) K437* probably null Het
Brwd1 A T 16: 96,002,725 (GRCm38) W2082R probably damaging Het
Card6 A T 15: 5,105,445 (GRCm38) probably benign Het
Cd200r4 A G 16: 44,833,519 (GRCm38) I226M possibly damaging Het
Cep57l1 T C 10: 41,743,152 (GRCm38) E73G probably damaging Het
Chaf1a T G 17: 56,063,374 (GRCm38) F613C probably damaging Het
Clybl G T 14: 122,401,994 (GRCm38) K323N probably damaging Het
Coa7 A G 4: 108,338,282 (GRCm38) D136G probably damaging Het
Col5a2 C A 1: 45,376,146 (GRCm38) V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,847 (GRCm38) probably benign Het
Cyp4f17 T G 17: 32,520,626 (GRCm38) M174R probably damaging Het
Dnah10 A T 5: 124,754,290 (GRCm38) D794V probably benign Het
Eapp A G 12: 54,692,093 (GRCm38) S87P probably benign Het
Efnb3 A G 11: 69,557,205 (GRCm38) I137T probably damaging Het
Eif4e T A 3: 138,553,727 (GRCm38) probably benign Het
Fam83b T A 9: 76,493,042 (GRCm38) I260L probably benign Het
Fras1 A G 5: 96,781,760 (GRCm38) T4008A probably damaging Het
Fut8 A T 12: 77,365,229 (GRCm38) R118W probably damaging Het
Glt1d1 A C 5: 127,657,119 (GRCm38) D119A probably benign Het
Gm3727 T A 14: 7,261,685 (GRCm38) *206C probably null Het
Gmip G A 8: 69,811,611 (GRCm38) V174M possibly damaging Het
Gtf2ird1 A G 5: 134,389,129 (GRCm38) probably null Het
Haao C T 17: 83,846,649 (GRCm38) C23Y probably damaging Het
Hip1 A T 5: 135,424,874 (GRCm38) V400E probably damaging Het
Keg1 A G 19: 12,719,097 (GRCm38) N215S probably damaging Het
Lss T G 10: 76,540,951 (GRCm38) I334S probably damaging Het
Lyn A C 4: 3,745,327 (GRCm38) E77D probably benign Het
Myo3a A G 2: 22,578,198 (GRCm38) E1426G probably benign Het
Ncapg2 A G 12: 116,440,057 (GRCm38) E863G possibly damaging Het
Ncl T C 1: 86,352,597 (GRCm38) Y496C probably damaging Het
Nefm A T 14: 68,121,290 (GRCm38) S432T probably benign Het
Nipsnap1 A G 11: 4,884,096 (GRCm38) Y95C possibly damaging Het
Npc1l1 C A 11: 6,218,643 (GRCm38) E913* probably null Het
Olfr1217 G T 2: 89,023,855 (GRCm38) Y49* probably null Het
Olfr1356 C T 10: 78,847,367 (GRCm38) E183K probably benign Het
Olfr325 A G 11: 58,581,713 (GRCm38) N290D probably damaging Het
Olfr652 T A 7: 104,564,470 (GRCm38) V83D probably damaging Het
Osm A C 11: 4,238,426 (GRCm38) I18L unknown Het
Otoa T A 7: 121,110,994 (GRCm38) S254R probably damaging Het
Parp1 T C 1: 180,599,590 (GRCm38) probably benign Het
Pcdh17 A G 14: 84,533,111 (GRCm38) I1010V probably benign Het
Peli2 A T 14: 48,252,575 (GRCm38) probably null Het
Pkd1l3 T G 8: 109,662,106 (GRCm38) probably benign Het
Pkhd1 A G 1: 20,081,300 (GRCm38) probably benign Het
Polg2 A C 11: 106,768,337 (GRCm38) V450G probably benign Het
Ptpn13 A T 5: 103,516,348 (GRCm38) T401S probably benign Het
Rgs22 C T 15: 36,043,204 (GRCm38) probably null Het
Rttn T G 18: 89,043,028 (GRCm38) S1107A probably benign Het
Scn5a G T 9: 119,537,636 (GRCm38) N328K probably benign Het
Sned1 G A 1: 93,289,367 (GRCm38) A1325T probably benign Het
St8sia4 T A 1: 95,660,870 (GRCm38) E80V probably benign Het
Stard7 T C 2: 127,292,256 (GRCm38) probably benign Het
Suco G T 1: 161,820,421 (GRCm38) P1099T probably damaging Het
Syn2 G T 6: 115,274,260 (GRCm38) C459F probably damaging Het
Tas2r117 A C 6: 132,803,078 (GRCm38) I60L probably benign Het
Tcrg-C4 A G 13: 19,352,246 (GRCm38) Y158C unknown Het
Tomm70a T C 16: 57,144,787 (GRCm38) C445R probably damaging Het
Tpsab1 T A 17: 25,345,128 (GRCm38) D87V probably benign Het
Trpm6 A T 19: 18,838,082 (GRCm38) E1177D possibly damaging Het
Vmn2r71 A T 7: 85,624,291 (GRCm38) D771V probably damaging Het
Vmn2r93 A T 17: 18,304,958 (GRCm38) T293S probably damaging Het
Other mutations in Nup205
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Nup205 APN 6 35,214,802 (GRCm38) missense probably damaging 1.00
IGL01086:Nup205 APN 6 35,208,936 (GRCm38) splice site probably benign
IGL01138:Nup205 APN 6 35,208,084 (GRCm38) nonsense probably null
IGL01333:Nup205 APN 6 35,241,063 (GRCm38) missense probably benign
IGL01399:Nup205 APN 6 35,219,689 (GRCm38) missense possibly damaging 0.80
IGL01466:Nup205 APN 6 35,199,959 (GRCm38) missense probably benign 0.08
IGL01913:Nup205 APN 6 35,227,430 (GRCm38) missense probably benign 0.10
IGL02159:Nup205 APN 6 35,189,178 (GRCm38) missense probably damaging 1.00
IGL02442:Nup205 APN 6 35,190,068 (GRCm38) missense probably benign 0.01
IGL02447:Nup205 APN 6 35,227,576 (GRCm38) splice site probably null
IGL02558:Nup205 APN 6 35,189,924 (GRCm38) missense probably damaging 1.00
IGL03306:Nup205 APN 6 35,208,169 (GRCm38) missense probably damaging 0.98
Figaro UTSW 6 35,196,714 (GRCm38) splice site probably null
Marcellina UTSW 6 35,183,969 (GRCm38) missense probably damaging 1.00
Spirit UTSW 6 35,232,408 (GRCm38) missense probably damaging 0.98
Susanna UTSW 6 35,208,109 (GRCm38) missense possibly damaging 0.94
voyager UTSW 6 35,189,885 (GRCm38) missense possibly damaging 0.80
BB007:Nup205 UTSW 6 35,194,576 (GRCm38) missense probably damaging 0.98
BB017:Nup205 UTSW 6 35,194,576 (GRCm38) missense probably damaging 0.98
P0012:Nup205 UTSW 6 35,196,543 (GRCm38) missense possibly damaging 0.90
R0102:Nup205 UTSW 6 35,225,780 (GRCm38) splice site probably benign
R0102:Nup205 UTSW 6 35,225,780 (GRCm38) splice site probably benign
R0362:Nup205 UTSW 6 35,196,714 (GRCm38) splice site probably null
R0374:Nup205 UTSW 6 35,208,837 (GRCm38) missense probably damaging 1.00
R0415:Nup205 UTSW 6 35,214,634 (GRCm38) splice site probably benign
R0427:Nup205 UTSW 6 35,194,463 (GRCm38) missense probably benign 0.01
R0543:Nup205 UTSW 6 35,198,969 (GRCm38) missense probably benign
R0611:Nup205 UTSW 6 35,225,968 (GRCm38) missense probably null 1.00
R0761:Nup205 UTSW 6 35,196,428 (GRCm38) splice site probably benign
R0828:Nup205 UTSW 6 35,194,566 (GRCm38) missense probably benign
R0906:Nup205 UTSW 6 35,236,892 (GRCm38) missense probably damaging 1.00
R1023:Nup205 UTSW 6 35,234,706 (GRCm38) missense probably damaging 0.98
R1033:Nup205 UTSW 6 35,227,442 (GRCm38) missense probably benign
R1375:Nup205 UTSW 6 35,200,071 (GRCm38) splice site probably benign
R1447:Nup205 UTSW 6 35,215,185 (GRCm38) missense probably benign 0.00
R1468:Nup205 UTSW 6 35,225,982 (GRCm38) critical splice donor site probably null
R1468:Nup205 UTSW 6 35,225,982 (GRCm38) critical splice donor site probably null
R1625:Nup205 UTSW 6 35,191,943 (GRCm38) missense probably benign 0.31
R1652:Nup205 UTSW 6 35,238,966 (GRCm38) missense probably benign
R1659:Nup205 UTSW 6 35,234,788 (GRCm38) missense probably benign 0.02
R1693:Nup205 UTSW 6 35,210,971 (GRCm38) missense probably benign 0.05
R1769:Nup205 UTSW 6 35,205,431 (GRCm38) missense probably damaging 1.00
R1839:Nup205 UTSW 6 35,219,714 (GRCm38) missense probably benign 0.00
R1959:Nup205 UTSW 6 35,233,366 (GRCm38) missense probably benign 0.16
R2051:Nup205 UTSW 6 35,230,516 (GRCm38) missense probably benign 0.29
R2267:Nup205 UTSW 6 35,241,349 (GRCm38) missense possibly damaging 0.67
R2401:Nup205 UTSW 6 35,208,134 (GRCm38) nonsense probably null
R3697:Nup205 UTSW 6 35,188,711 (GRCm38) missense probably benign 0.15
R3938:Nup205 UTSW 6 35,219,742 (GRCm38) missense probably damaging 1.00
R4074:Nup205 UTSW 6 35,192,040 (GRCm38) critical splice donor site probably null
R4117:Nup205 UTSW 6 35,241,012 (GRCm38) nonsense probably null
R4364:Nup205 UTSW 6 35,192,027 (GRCm38) missense probably benign 0.38
R4366:Nup205 UTSW 6 35,192,027 (GRCm38) missense probably benign 0.38
R4594:Nup205 UTSW 6 35,196,489 (GRCm38) missense probably benign 0.00
R4706:Nup205 UTSW 6 35,202,008 (GRCm38) missense probably damaging 1.00
R4787:Nup205 UTSW 6 35,202,061 (GRCm38) missense probably damaging 1.00
R4849:Nup205 UTSW 6 35,230,570 (GRCm38) missense possibly damaging 0.90
R4850:Nup205 UTSW 6 35,230,530 (GRCm38) missense probably benign 0.16
R4943:Nup205 UTSW 6 35,224,639 (GRCm38) missense probably damaging 1.00
R4966:Nup205 UTSW 6 35,243,849 (GRCm38) missense probably benign 0.00
R5138:Nup205 UTSW 6 35,225,866 (GRCm38) missense probably damaging 1.00
R5251:Nup205 UTSW 6 35,196,482 (GRCm38) splice site probably null
R5444:Nup205 UTSW 6 35,189,189 (GRCm38) missense probably damaging 0.98
R5760:Nup205 UTSW 6 35,247,343 (GRCm38) missense probably damaging 1.00
R5762:Nup205 UTSW 6 35,230,548 (GRCm38) missense probably damaging 0.96
R5762:Nup205 UTSW 6 35,227,680 (GRCm38) missense probably damaging 1.00
R5941:Nup205 UTSW 6 35,232,408 (GRCm38) missense probably damaging 0.98
R5969:Nup205 UTSW 6 35,177,578 (GRCm38) unclassified probably benign
R6003:Nup205 UTSW 6 35,212,816 (GRCm38) missense probably benign
R6178:Nup205 UTSW 6 35,243,843 (GRCm38) missense possibly damaging 0.85
R6315:Nup205 UTSW 6 35,236,869 (GRCm38) missense probably damaging 1.00
R6392:Nup205 UTSW 6 35,189,885 (GRCm38) missense possibly damaging 0.80
R6710:Nup205 UTSW 6 35,247,373 (GRCm38) missense probably benign 0.00
R6954:Nup205 UTSW 6 35,208,109 (GRCm38) missense possibly damaging 0.94
R7022:Nup205 UTSW 6 35,243,936 (GRCm38) missense probably benign 0.45
R7041:Nup205 UTSW 6 35,224,535 (GRCm38) missense possibly damaging 0.49
R7052:Nup205 UTSW 6 35,215,142 (GRCm38) missense possibly damaging 0.81
R7310:Nup205 UTSW 6 35,225,969 (GRCm38) missense possibly damaging 0.78
R7363:Nup205 UTSW 6 35,232,573 (GRCm38) missense probably benign 0.28
R7399:Nup205 UTSW 6 35,214,676 (GRCm38) missense probably damaging 0.99
R7428:Nup205 UTSW 6 35,227,559 (GRCm38) missense probably damaging 1.00
R7553:Nup205 UTSW 6 35,201,999 (GRCm38) missense probably damaging 1.00
R7665:Nup205 UTSW 6 35,177,620 (GRCm38) missense possibly damaging 0.46
R7841:Nup205 UTSW 6 35,247,437 (GRCm38) missense unknown
R7930:Nup205 UTSW 6 35,194,576 (GRCm38) missense probably damaging 0.98
R7973:Nup205 UTSW 6 35,245,339 (GRCm38) missense probably benign
R7976:Nup205 UTSW 6 35,198,953 (GRCm38) missense probably damaging 1.00
R8073:Nup205 UTSW 6 35,202,169 (GRCm38) critical splice donor site probably null
R8080:Nup205 UTSW 6 35,227,376 (GRCm38) missense probably damaging 1.00
R8118:Nup205 UTSW 6 35,230,516 (GRCm38) missense probably benign 0.29
R8213:Nup205 UTSW 6 35,225,203 (GRCm38) missense probably benign 0.26
R8237:Nup205 UTSW 6 35,227,503 (GRCm38) missense possibly damaging 0.89
R8408:Nup205 UTSW 6 35,225,247 (GRCm38) missense probably damaging 1.00
R8807:Nup205 UTSW 6 35,183,969 (GRCm38) missense probably damaging 1.00
R8812:Nup205 UTSW 6 35,214,334 (GRCm38) missense probably damaging 1.00
R9061:Nup205 UTSW 6 35,219,873 (GRCm38) intron probably benign
R9261:Nup205 UTSW 6 35,199,857 (GRCm38) missense probably benign 0.00
R9403:Nup205 UTSW 6 35,199,974 (GRCm38) missense probably benign 0.45
R9648:Nup205 UTSW 6 35,225,811 (GRCm38) missense probably benign 0.00
R9744:Nup205 UTSW 6 35,232,575 (GRCm38) missense probably damaging 0.99
R9800:Nup205 UTSW 6 35,186,533 (GRCm38) missense possibly damaging 0.85
Z1177:Nup205 UTSW 6 35,208,793 (GRCm38) critical splice acceptor site probably null
Z1177:Nup205 UTSW 6 35,177,605 (GRCm38) missense unknown
Posted On 2016-08-02