Incidental Mutation 'IGL03288:Nup153'
ID 415784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup153
Ensembl Gene ENSMUSG00000021374
Gene Name nucleoporin 153
Synonyms B130015D15Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # IGL03288
Quality Score
Status
Chromosome 13
Chromosomal Location 46833381-46881416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46858681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 410 (E410G)
Ref Sequence ENSEMBL: ENSMUSP00000021803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021803]
AlphaFold E9Q3G8
Predicted Effect possibly damaging
Transcript: ENSMUST00000021803
AA Change: E410G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374
AA Change: E410G

DomainStartEndE-ValueType
low complexity region 6 15 N/A INTRINSIC
Pfam:Nup153 114 627 6e-236 PFAM
ZnF_RBZ 656 680 6.56e-6 SMART
ZnF_RBZ 719 743 5.89e-8 SMART
low complexity region 756 775 N/A INTRINSIC
ZnF_RBZ 787 811 7.2e-3 SMART
low complexity region 815 830 N/A INTRINSIC
ZnF_RBZ 844 868 1.64e-6 SMART
low complexity region 898 911 N/A INTRINSIC
low complexity region 1078 1085 N/A INTRINSIC
low complexity region 1183 1207 N/A INTRINSIC
low complexity region 1248 1260 N/A INTRINSIC
low complexity region 1271 1296 N/A INTRINSIC
Pfam:Nup_retrotrp_bd 1372 1462 4.4e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183299
Predicted Effect probably benign
Transcript: ENSMUST00000224062
Predicted Effect unknown
Transcript: ENSMUST00000225894
AA Change: E27G
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,761,959 (GRCm39) K1589R probably benign Het
Armc3 T C 2: 19,240,293 (GRCm39) F17L probably damaging Het
Ccdc17 T A 4: 116,456,626 (GRCm39) L465H probably damaging Het
Cdh9 A T 15: 16,856,135 (GRCm39) D725V probably damaging Het
Cert1 T A 13: 96,770,700 (GRCm39) D536E probably benign Het
Chl1 C T 6: 103,652,058 (GRCm39) R309C probably damaging Het
Dbt T A 3: 116,341,847 (GRCm39) *483K probably null Het
Ddx46 A G 13: 55,785,907 (GRCm39) D29G unknown Het
Des T C 1: 75,338,985 (GRCm39) I222T possibly damaging Het
Dnah8 A G 17: 30,891,323 (GRCm39) N776S probably benign Het
Fbn1 A T 2: 125,145,103 (GRCm39) L2712Q probably benign Het
Glb1l3 A C 9: 26,729,601 (GRCm39) V622G probably damaging Het
Grin2a T C 16: 9,487,704 (GRCm39) D398G possibly damaging Het
Itgb3 T C 11: 104,524,293 (GRCm39) M143T probably damaging Het
Lama2 G A 10: 27,245,047 (GRCm39) R245C probably damaging Het
Lgals9 G A 11: 78,875,626 (GRCm39) A6V probably benign Het
Lman2l A T 1: 36,482,628 (GRCm39) Y83N probably damaging Het
Lrp2 T A 2: 69,256,383 (GRCm39) T4586S probably benign Het
Med10 T C 13: 69,963,816 (GRCm39) probably benign Het
Myo18b A C 5: 112,937,863 (GRCm39) L1754R probably damaging Het
Myom2 T C 8: 15,172,679 (GRCm39) L1202S probably damaging Het
Nav3 T C 10: 109,594,878 (GRCm39) E1441G probably damaging Het
Nme8 T C 13: 19,880,776 (GRCm39) E60G possibly damaging Het
Npffr2 G T 5: 89,731,020 (GRCm39) A317S probably damaging Het
Nrxn2 A G 19: 6,540,726 (GRCm39) D893G probably damaging Het
Or11h7 T C 14: 50,890,832 (GRCm39) I46T possibly damaging Het
Or7e178 A G 9: 20,247,207 (GRCm39) probably null Het
Pcdhb10 A G 18: 37,546,358 (GRCm39) D478G probably damaging Het
Phf13 T C 4: 152,076,826 (GRCm39) D122G possibly damaging Het
Pkhd1 A T 1: 20,271,243 (GRCm39) H3103Q probably benign Het
Prr11 A C 11: 86,987,787 (GRCm39) probably null Het
Rac3 C T 11: 120,614,092 (GRCm39) T118M possibly damaging Het
Rad54b T C 4: 11,569,833 (GRCm39) S50P possibly damaging Het
Rp1 T C 1: 4,419,747 (GRCm39) Q455R possibly damaging Het
Semp2l1 T A 1: 32,584,841 (GRCm39) E356D probably benign Het
Sorl1 T C 9: 41,944,858 (GRCm39) probably benign Het
Spink5 A T 18: 44,147,827 (GRCm39) I858F possibly damaging Het
Stxbp5 A T 10: 9,742,447 (GRCm39) probably null Het
Svep1 A C 4: 58,116,532 (GRCm39) V906G probably benign Het
Tlr4 A G 4: 66,757,990 (GRCm39) E261G probably damaging Het
Zfp704 C T 3: 9,504,951 (GRCm39) probably benign Het
Zfyve9 A T 4: 108,580,996 (GRCm39) probably benign Het
Other mutations in Nup153
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00657:Nup153 APN 13 46,834,626 (GRCm39) unclassified probably benign
IGL01312:Nup153 APN 13 46,840,300 (GRCm39) missense probably benign 0.03
IGL01459:Nup153 APN 13 46,866,402 (GRCm39) missense possibly damaging 0.84
IGL01646:Nup153 APN 13 46,837,583 (GRCm39) missense possibly damaging 0.80
IGL03064:Nup153 APN 13 46,847,315 (GRCm39) missense probably benign
IGL03369:Nup153 APN 13 46,854,459 (GRCm39) splice site probably null
IGL03371:Nup153 APN 13 46,836,628 (GRCm39) missense probably benign 0.34
R0193:Nup153 UTSW 13 46,863,130 (GRCm39) missense probably benign 0.01
R0244:Nup153 UTSW 13 46,847,412 (GRCm39) missense probably benign 0.03
R0448:Nup153 UTSW 13 46,870,657 (GRCm39) missense probably benign 0.00
R0943:Nup153 UTSW 13 46,850,248 (GRCm39) splice site probably benign
R1219:Nup153 UTSW 13 46,840,695 (GRCm39) missense probably benign 0.01
R1381:Nup153 UTSW 13 46,842,657 (GRCm39) missense probably damaging 1.00
R1709:Nup153 UTSW 13 46,847,450 (GRCm39) missense probably damaging 1.00
R1727:Nup153 UTSW 13 46,847,261 (GRCm39) missense probably damaging 1.00
R1818:Nup153 UTSW 13 46,835,113 (GRCm39) missense possibly damaging 0.94
R1824:Nup153 UTSW 13 46,867,223 (GRCm39) missense probably damaging 1.00
R1928:Nup153 UTSW 13 46,854,502 (GRCm39) missense probably damaging 0.98
R2108:Nup153 UTSW 13 46,846,986 (GRCm39) critical splice donor site probably null
R2110:Nup153 UTSW 13 46,837,404 (GRCm39) missense probably benign 0.00
R2111:Nup153 UTSW 13 46,837,404 (GRCm39) missense probably benign 0.00
R2173:Nup153 UTSW 13 46,855,076 (GRCm39) splice site probably benign
R2231:Nup153 UTSW 13 46,863,103 (GRCm39) critical splice donor site probably null
R3879:Nup153 UTSW 13 46,837,436 (GRCm39) missense probably damaging 1.00
R4634:Nup153 UTSW 13 46,840,706 (GRCm39) missense possibly damaging 0.49
R4662:Nup153 UTSW 13 46,840,750 (GRCm39) missense possibly damaging 0.68
R4932:Nup153 UTSW 13 46,866,213 (GRCm39) nonsense probably null
R5011:Nup153 UTSW 13 46,840,879 (GRCm39) missense possibly damaging 0.62
R5023:Nup153 UTSW 13 46,834,585 (GRCm39) unclassified probably benign
R5069:Nup153 UTSW 13 46,863,268 (GRCm39) missense probably benign 0.05
R5137:Nup153 UTSW 13 46,837,629 (GRCm39) missense probably damaging 0.99
R5323:Nup153 UTSW 13 46,870,682 (GRCm39) missense probably benign 0.19
R5345:Nup153 UTSW 13 46,840,341 (GRCm39) nonsense probably null
R5536:Nup153 UTSW 13 46,836,485 (GRCm39) missense probably benign 0.01
R5613:Nup153 UTSW 13 46,840,747 (GRCm39) missense possibly damaging 0.64
R5620:Nup153 UTSW 13 46,837,482 (GRCm39) nonsense probably null
R5764:Nup153 UTSW 13 46,840,803 (GRCm39) missense probably damaging 0.97
R5849:Nup153 UTSW 13 46,840,452 (GRCm39) missense probably damaging 0.99
R6454:Nup153 UTSW 13 46,863,136 (GRCm39) splice site probably null
R6701:Nup153 UTSW 13 46,840,541 (GRCm39) missense probably benign 0.00
R6721:Nup153 UTSW 13 46,854,502 (GRCm39) missense probably damaging 0.98
R6737:Nup153 UTSW 13 46,842,682 (GRCm39) missense probably benign 0.08
R6789:Nup153 UTSW 13 46,870,792 (GRCm39) missense probably damaging 1.00
R6820:Nup153 UTSW 13 46,863,459 (GRCm39) missense probably benign 0.09
R6837:Nup153 UTSW 13 46,847,527 (GRCm39) missense probably damaging 1.00
R6913:Nup153 UTSW 13 46,853,192 (GRCm39) missense probably damaging 1.00
R7052:Nup153 UTSW 13 46,840,949 (GRCm39) missense probably benign 0.09
R7091:Nup153 UTSW 13 46,837,404 (GRCm39) missense probably benign
R7357:Nup153 UTSW 13 46,870,642 (GRCm39) missense probably benign 0.32
R7389:Nup153 UTSW 13 46,854,463 (GRCm39) critical splice donor site probably null
R7423:Nup153 UTSW 13 46,850,120 (GRCm39) critical splice donor site probably null
R7453:Nup153 UTSW 13 46,834,657 (GRCm39) missense probably damaging 1.00
R7611:Nup153 UTSW 13 46,840,798 (GRCm39) missense probably benign 0.01
R7876:Nup153 UTSW 13 46,835,084 (GRCm39) missense probably benign
R7909:Nup153 UTSW 13 46,847,056 (GRCm39) missense probably damaging 1.00
R7938:Nup153 UTSW 13 46,842,855 (GRCm39) splice site probably null
R8735:Nup153 UTSW 13 46,881,027 (GRCm39) start gained probably benign
R8804:Nup153 UTSW 13 46,840,635 (GRCm39) missense probably benign 0.04
R8916:Nup153 UTSW 13 46,863,462 (GRCm39) nonsense probably null
R9025:Nup153 UTSW 13 46,837,709 (GRCm39) missense probably benign 0.36
R9217:Nup153 UTSW 13 46,835,138 (GRCm39) missense probably damaging 1.00
R9390:Nup153 UTSW 13 46,840,642 (GRCm39) missense probably damaging 1.00
R9701:Nup153 UTSW 13 46,840,211 (GRCm39) missense probably benign 0.01
R9714:Nup153 UTSW 13 46,866,435 (GRCm39) missense possibly damaging 0.55
Posted On 2016-08-02