Incidental Mutation 'IGL02159:Nup205'
ID 282368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup205
Ensembl Gene ENSMUSG00000038759
Gene Name nucleoporin 205
Synonyms 3830404O05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL02159
Quality Score
Status
Chromosome 6
Chromosomal Location 35154551-35224534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35166113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 244 (S244P)
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: S191P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: S191P

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 damaging
Transcript: ENSMUST00000170234
AA Change: S191P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130033
Gene: ENSMUSG00000038759
AA Change: S191P

DomainStartEndE-ValueType
Pfam:DUF3414 13 322 9.7e-98 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000201374
AA Change: S244P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: S244P

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: ENSMUST00000202898
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,446,527 (GRCm39) L257S probably damaging Het
Abca13 A G 11: 9,264,545 (GRCm39) S2976G probably benign Het
Afmid T C 11: 117,727,252 (GRCm39) W267R probably damaging Het
Ahi1 A G 10: 20,934,076 (GRCm39) K969R probably benign Het
Aldh1l1 A G 6: 90,571,638 (GRCm39) probably benign Het
Ank3 A G 10: 69,644,722 (GRCm39) H62R probably damaging Het
Arid2 T C 15: 96,256,793 (GRCm39) probably benign Het
Caps2 G A 10: 112,039,928 (GRCm39) V457M probably benign Het
Capza1 T C 3: 104,771,687 (GRCm39) D3G possibly damaging Het
Cav1 T A 6: 17,307,971 (GRCm39) V41E possibly damaging Het
Celf2 G T 2: 6,608,988 (GRCm39) C264* probably null Het
Clec4a2 C T 6: 123,116,285 (GRCm39) S150L probably benign Het
D7Ertd443e A T 7: 133,951,129 (GRCm39) D181E possibly damaging Het
Epyc A G 10: 97,506,493 (GRCm39) E100G probably benign Het
Hdac11 A G 6: 91,150,084 (GRCm39) I294M probably damaging Het
Hrob G A 11: 102,150,991 (GRCm39) probably null Het
Hsdl1 A G 8: 120,293,153 (GRCm39) V73A probably benign Het
Kmt2c A T 5: 25,516,341 (GRCm39) S2501T probably benign Het
Lrrc41 T A 4: 115,945,683 (GRCm39) F133I probably benign Het
Map3k19 C A 1: 127,750,907 (GRCm39) G815C probably benign Het
Muc13 C A 16: 33,619,849 (GRCm39) T199K unknown Het
Nif3l1 G T 1: 58,487,105 (GRCm39) probably null Het
Nlrp12 A T 7: 3,298,175 (GRCm39) probably benign Het
Or7a37 A T 10: 78,805,735 (GRCm39) N84I probably damaging Het
Parl G A 16: 20,098,838 (GRCm39) probably benign Het
Pax8 A G 2: 24,330,800 (GRCm39) I211T possibly damaging Het
Pglyrp4 A G 3: 90,638,160 (GRCm39) E158G possibly damaging Het
Plekhm1 A G 11: 103,271,057 (GRCm39) L478P probably benign Het
Prss3b T C 6: 41,009,891 (GRCm39) T148A probably benign Het
Serpina1a C T 12: 103,820,965 (GRCm39) G338R probably damaging Het
Serpina5 T C 12: 104,071,557 (GRCm39) L388P possibly damaging Het
Sorbs1 A G 19: 40,316,040 (GRCm39) V367A probably damaging Het
Srgap2 A G 1: 131,247,404 (GRCm39) probably benign Het
Surf1 A G 2: 26,805,663 (GRCm39) L26P probably damaging Het
Taf4 A G 2: 179,580,263 (GRCm39) S486P probably benign Het
Tdrd6 A T 17: 43,939,281 (GRCm39) V589E probably damaging Het
Tuba3b T G 6: 145,565,392 (GRCm39) S287A probably benign Het
Txnrd3 G A 6: 89,646,306 (GRCm39) R295H probably damaging Het
Ubr5 G T 15: 37,991,623 (GRCm39) probably benign Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Usp32 A G 11: 84,896,628 (GRCm39) probably null Het
Utp23 G A 15: 51,745,761 (GRCm39) R87K probably benign Het
Vps8 T C 16: 21,285,234 (GRCm39) I405T possibly damaging Het
Other mutations in Nup205
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Nup205 APN 6 35,191,737 (GRCm39) missense probably damaging 1.00
IGL01086:Nup205 APN 6 35,185,871 (GRCm39) splice site probably benign
IGL01138:Nup205 APN 6 35,185,019 (GRCm39) nonsense probably null
IGL01333:Nup205 APN 6 35,217,998 (GRCm39) missense probably benign
IGL01399:Nup205 APN 6 35,196,624 (GRCm39) missense possibly damaging 0.80
IGL01466:Nup205 APN 6 35,176,894 (GRCm39) missense probably benign 0.08
IGL01913:Nup205 APN 6 35,204,365 (GRCm39) missense probably benign 0.10
IGL02442:Nup205 APN 6 35,167,003 (GRCm39) missense probably benign 0.01
IGL02447:Nup205 APN 6 35,204,511 (GRCm39) splice site probably null
IGL02558:Nup205 APN 6 35,166,859 (GRCm39) missense probably damaging 1.00
IGL03306:Nup205 APN 6 35,185,104 (GRCm39) missense probably damaging 0.98
IGL03328:Nup205 APN 6 35,209,349 (GRCm39) missense probably damaging 0.99
Figaro UTSW 6 35,173,649 (GRCm39) splice site probably null
Marcellina UTSW 6 35,160,904 (GRCm39) missense probably damaging 1.00
Spirit UTSW 6 35,209,343 (GRCm39) missense probably damaging 0.98
Susanna UTSW 6 35,185,044 (GRCm39) missense possibly damaging 0.94
voyager UTSW 6 35,166,820 (GRCm39) missense possibly damaging 0.80
BB007:Nup205 UTSW 6 35,171,511 (GRCm39) missense probably damaging 0.98
BB017:Nup205 UTSW 6 35,171,511 (GRCm39) missense probably damaging 0.98
P0012:Nup205 UTSW 6 35,173,478 (GRCm39) missense possibly damaging 0.90
R0102:Nup205 UTSW 6 35,202,715 (GRCm39) splice site probably benign
R0102:Nup205 UTSW 6 35,202,715 (GRCm39) splice site probably benign
R0362:Nup205 UTSW 6 35,173,649 (GRCm39) splice site probably null
R0374:Nup205 UTSW 6 35,185,772 (GRCm39) missense probably damaging 1.00
R0415:Nup205 UTSW 6 35,191,569 (GRCm39) splice site probably benign
R0427:Nup205 UTSW 6 35,171,398 (GRCm39) missense probably benign 0.01
R0543:Nup205 UTSW 6 35,175,904 (GRCm39) missense probably benign
R0611:Nup205 UTSW 6 35,202,903 (GRCm39) missense probably null 1.00
R0761:Nup205 UTSW 6 35,173,363 (GRCm39) splice site probably benign
R0828:Nup205 UTSW 6 35,171,501 (GRCm39) missense probably benign
R0906:Nup205 UTSW 6 35,213,827 (GRCm39) missense probably damaging 1.00
R1023:Nup205 UTSW 6 35,211,641 (GRCm39) missense probably damaging 0.98
R1033:Nup205 UTSW 6 35,204,377 (GRCm39) missense probably benign
R1375:Nup205 UTSW 6 35,177,006 (GRCm39) splice site probably benign
R1447:Nup205 UTSW 6 35,192,120 (GRCm39) missense probably benign 0.00
R1468:Nup205 UTSW 6 35,202,917 (GRCm39) critical splice donor site probably null
R1468:Nup205 UTSW 6 35,202,917 (GRCm39) critical splice donor site probably null
R1625:Nup205 UTSW 6 35,168,878 (GRCm39) missense probably benign 0.31
R1652:Nup205 UTSW 6 35,215,901 (GRCm39) missense probably benign
R1659:Nup205 UTSW 6 35,211,723 (GRCm39) missense probably benign 0.02
R1693:Nup205 UTSW 6 35,187,906 (GRCm39) missense probably benign 0.05
R1769:Nup205 UTSW 6 35,182,366 (GRCm39) missense probably damaging 1.00
R1839:Nup205 UTSW 6 35,196,649 (GRCm39) missense probably benign 0.00
R1959:Nup205 UTSW 6 35,210,301 (GRCm39) missense probably benign 0.16
R2051:Nup205 UTSW 6 35,207,451 (GRCm39) missense probably benign 0.29
R2267:Nup205 UTSW 6 35,218,284 (GRCm39) missense possibly damaging 0.67
R2401:Nup205 UTSW 6 35,185,069 (GRCm39) nonsense probably null
R3697:Nup205 UTSW 6 35,165,646 (GRCm39) missense probably benign 0.15
R3938:Nup205 UTSW 6 35,196,677 (GRCm39) missense probably damaging 1.00
R4074:Nup205 UTSW 6 35,168,975 (GRCm39) critical splice donor site probably null
R4117:Nup205 UTSW 6 35,217,947 (GRCm39) nonsense probably null
R4364:Nup205 UTSW 6 35,168,962 (GRCm39) missense probably benign 0.38
R4366:Nup205 UTSW 6 35,168,962 (GRCm39) missense probably benign 0.38
R4594:Nup205 UTSW 6 35,173,424 (GRCm39) missense probably benign 0.00
R4706:Nup205 UTSW 6 35,178,943 (GRCm39) missense probably damaging 1.00
R4787:Nup205 UTSW 6 35,178,996 (GRCm39) missense probably damaging 1.00
R4849:Nup205 UTSW 6 35,207,505 (GRCm39) missense possibly damaging 0.90
R4850:Nup205 UTSW 6 35,207,465 (GRCm39) missense probably benign 0.16
R4943:Nup205 UTSW 6 35,201,574 (GRCm39) missense probably damaging 1.00
R4966:Nup205 UTSW 6 35,220,784 (GRCm39) missense probably benign 0.00
R5138:Nup205 UTSW 6 35,202,801 (GRCm39) missense probably damaging 1.00
R5251:Nup205 UTSW 6 35,173,417 (GRCm39) splice site probably null
R5444:Nup205 UTSW 6 35,166,124 (GRCm39) missense probably damaging 0.98
R5760:Nup205 UTSW 6 35,224,278 (GRCm39) missense probably damaging 1.00
R5762:Nup205 UTSW 6 35,207,483 (GRCm39) missense probably damaging 0.96
R5762:Nup205 UTSW 6 35,204,615 (GRCm39) missense probably damaging 1.00
R5941:Nup205 UTSW 6 35,209,343 (GRCm39) missense probably damaging 0.98
R5969:Nup205 UTSW 6 35,154,513 (GRCm39) unclassified probably benign
R6003:Nup205 UTSW 6 35,189,751 (GRCm39) missense probably benign
R6178:Nup205 UTSW 6 35,220,778 (GRCm39) missense possibly damaging 0.85
R6315:Nup205 UTSW 6 35,213,804 (GRCm39) missense probably damaging 1.00
R6392:Nup205 UTSW 6 35,166,820 (GRCm39) missense possibly damaging 0.80
R6710:Nup205 UTSW 6 35,224,308 (GRCm39) missense probably benign 0.00
R6954:Nup205 UTSW 6 35,185,044 (GRCm39) missense possibly damaging 0.94
R7022:Nup205 UTSW 6 35,220,871 (GRCm39) missense probably benign 0.45
R7041:Nup205 UTSW 6 35,201,470 (GRCm39) missense possibly damaging 0.49
R7052:Nup205 UTSW 6 35,192,077 (GRCm39) missense possibly damaging 0.81
R7310:Nup205 UTSW 6 35,202,904 (GRCm39) missense possibly damaging 0.78
R7363:Nup205 UTSW 6 35,209,508 (GRCm39) missense probably benign 0.28
R7399:Nup205 UTSW 6 35,191,611 (GRCm39) missense probably damaging 0.99
R7428:Nup205 UTSW 6 35,204,494 (GRCm39) missense probably damaging 1.00
R7553:Nup205 UTSW 6 35,178,934 (GRCm39) missense probably damaging 1.00
R7665:Nup205 UTSW 6 35,154,555 (GRCm39) missense possibly damaging 0.46
R7841:Nup205 UTSW 6 35,224,372 (GRCm39) missense unknown
R7930:Nup205 UTSW 6 35,171,511 (GRCm39) missense probably damaging 0.98
R7973:Nup205 UTSW 6 35,222,274 (GRCm39) missense probably benign
R7976:Nup205 UTSW 6 35,175,888 (GRCm39) missense probably damaging 1.00
R8073:Nup205 UTSW 6 35,179,104 (GRCm39) critical splice donor site probably null
R8080:Nup205 UTSW 6 35,204,311 (GRCm39) missense probably damaging 1.00
R8118:Nup205 UTSW 6 35,207,451 (GRCm39) missense probably benign 0.29
R8213:Nup205 UTSW 6 35,202,138 (GRCm39) missense probably benign 0.26
R8237:Nup205 UTSW 6 35,204,438 (GRCm39) missense possibly damaging 0.89
R8408:Nup205 UTSW 6 35,202,182 (GRCm39) missense probably damaging 1.00
R8807:Nup205 UTSW 6 35,160,904 (GRCm39) missense probably damaging 1.00
R8812:Nup205 UTSW 6 35,191,269 (GRCm39) missense probably damaging 1.00
R9061:Nup205 UTSW 6 35,196,808 (GRCm39) intron probably benign
R9261:Nup205 UTSW 6 35,176,792 (GRCm39) missense probably benign 0.00
R9403:Nup205 UTSW 6 35,176,909 (GRCm39) missense probably benign 0.45
R9648:Nup205 UTSW 6 35,202,746 (GRCm39) missense probably benign 0.00
R9744:Nup205 UTSW 6 35,209,510 (GRCm39) missense probably damaging 0.99
R9800:Nup205 UTSW 6 35,163,468 (GRCm39) missense possibly damaging 0.85
Z1177:Nup205 UTSW 6 35,185,728 (GRCm39) critical splice acceptor site probably null
Z1177:Nup205 UTSW 6 35,154,540 (GRCm39) missense unknown
Posted On 2015-04-16