Incidental Mutation 'R8806:Nup88'
ID 672083
Institutional Source Beutler Lab
Gene Symbol Nup88
Ensembl Gene ENSMUSG00000040667
Gene Name nucleoporin 88
Synonyms Nup84, Prei2
MMRRC Submission 068612-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R8806 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 70833884-70860799 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 70834941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 692 (K692N)
Ref Sequence ENSEMBL: ENSMUSP00000048101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035283] [ENSMUST00000076270] [ENSMUST00000081362] [ENSMUST00000100928] [ENSMUST00000108530] [ENSMUST00000108531] [ENSMUST00000108533] [ENSMUST00000177731] [ENSMUST00000178245]
AlphaFold Q8CEC0
Predicted Effect probably benign
Transcript: ENSMUST00000035283
AA Change: K692N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000048101
Gene: ENSMUSG00000040667
AA Change: K692N

DomainStartEndE-ValueType
Pfam:Nup88 13 752 1.1e-306 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076270
SMART Domains Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817

DomainStartEndE-ValueType
Pfam:Rabaptin 89 195 8.8e-47 PFAM
low complexity region 314 327 N/A INTRINSIC
Pfam:Rabaptin 461 596 7.6e-39 PFAM
Pfam:Rab5-bind 612 807 5.7e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081362
SMART Domains Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817

DomainStartEndE-ValueType
Pfam:Rabaptin 89 198 2.4e-45 PFAM
low complexity region 274 287 N/A INTRINSIC
Pfam:Rabaptin 421 556 7.1e-39 PFAM
Pfam:Rab5-bind 572 767 5.2e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100928
SMART Domains Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817

DomainStartEndE-ValueType
Pfam:Rabaptin 89 195 8.3e-47 PFAM
low complexity region 314 327 N/A INTRINSIC
Pfam:Rabaptin 461 561 2.9e-27 PFAM
Pfam:Rab5-bind 577 772 5.3e-51 PFAM
low complexity region 803 817 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108530
AA Change: K681N

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104170
Gene: ENSMUSG00000040667
AA Change: K681N

DomainStartEndE-ValueType
Pfam:Nup88 11 742 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108531
AA Change: K686N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000104171
Gene: ENSMUSG00000040667
AA Change: K686N

DomainStartEndE-ValueType
Pfam:Nup88 11 747 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108533
SMART Domains Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817

DomainStartEndE-ValueType
Pfam:Rabaptin 9 495 2.8e-301 PFAM
Pfam:Rab5-bind 533 841 2e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177731
SMART Domains Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817

DomainStartEndE-ValueType
Pfam:Rabaptin 5 111 6.2e-47 PFAM
low complexity region 230 243 N/A INTRINSIC
Pfam:Rabaptin 377 512 5.3e-39 PFAM
Pfam:Rab5-bind 528 723 1.4e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178245
SMART Domains Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817

DomainStartEndE-ValueType
Pfam:Rabaptin 46 152 8.2e-47 PFAM
low complexity region 271 284 N/A INTRINSIC
Pfam:Rabaptin 418 553 7e-39 PFAM
Pfam:Rab5-bind 569 764 5.2e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178253
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,084,520 (GRCm39) M586V probably benign Het
Adam6b G A 12: 113,455,418 (GRCm39) R745H possibly damaging Het
Afg3l1 A G 8: 124,220,657 (GRCm39) D462G probably damaging Het
Anapc1 T A 2: 128,464,333 (GRCm39) Q1721L possibly damaging Het
Arhgap11a T C 2: 113,665,107 (GRCm39) Y497C possibly damaging Het
Bcl7b T G 5: 135,208,824 (GRCm39) S96A possibly damaging Het
Birc6 T C 17: 74,949,311 (GRCm39) V3111A probably damaging Het
Cbx1 A G 11: 96,692,383 (GRCm39) D90G possibly damaging Het
Cdkl3 T C 11: 51,923,295 (GRCm39) F524S possibly damaging Het
Cops7b G A 1: 86,517,031 (GRCm39) G44R probably damaging Het
D130043K22Rik A G 13: 25,083,618 (GRCm39) S1028G probably benign Het
Decr1 T A 4: 15,945,351 (GRCm39) M1L probably benign Het
Dmtn T C 14: 70,852,388 (GRCm39) I167V probably benign Het
Dnah9 A G 11: 65,750,309 (GRCm39) L3932P probably damaging Het
Ece1 T A 4: 137,672,452 (GRCm39) I365N probably damaging Het
Efcab3 T A 11: 104,928,695 (GRCm39) M4815K probably benign Het
Exo5 T C 4: 120,779,602 (GRCm39) T88A probably benign Het
Frem3 T C 8: 81,390,064 (GRCm39) Y1772H probably benign Het
Gm5160 A G 18: 14,557,931 (GRCm39) N3D possibly damaging Het
Gm7138 T A 10: 77,612,717 (GRCm39) D21V unknown Het
Gm7298 C A 6: 121,761,641 (GRCm39) silent Het
Gucy2e A G 11: 69,126,942 (GRCm39) V177A probably benign Het
Islr C A 9: 58,064,256 (GRCm39) G417V unknown Het
Kif13a A T 13: 46,914,813 (GRCm39) M1458K possibly damaging Het
Mcm7 T C 5: 138,163,347 (GRCm39) D642G possibly damaging Het
Med24 A T 11: 98,595,970 (GRCm39) I941N probably damaging Het
Mrgprb8 C T 7: 48,038,976 (GRCm39) P216S possibly damaging Het
Myo5c T A 9: 75,150,054 (GRCm39) V13D probably damaging Het
N4bp2 T A 5: 65,965,551 (GRCm39) I1200K possibly damaging Het
Naip6 G A 13: 100,437,161 (GRCm39) T454M possibly damaging Het
Nfkb1 T C 3: 135,295,213 (GRCm39) Y877C probably damaging Het
Nolc1 C A 19: 46,071,471 (GRCm39) S473R unknown Het
Nop16 A C 13: 54,737,672 (GRCm39) probably benign Het
Nr3c2 T C 8: 77,969,092 (GRCm39) I959T probably damaging Het
Nvl C A 1: 180,922,619 (GRCm39) G818V probably benign Het
Or1i2 G T 10: 78,447,974 (GRCm39) T167N probably benign Het
Or4k6 T A 14: 50,475,376 (GRCm39) E322V probably benign Het
Or4n4 A G 14: 50,519,236 (GRCm39) I158T probably benign Het
Or4s2b T C 2: 88,508,955 (GRCm39) V245A probably benign Het
Or8b49 A T 9: 38,506,405 (GRCm39) D296V probably damaging Het
Or8k1 T C 2: 86,047,200 (GRCm39) I285V probably damaging Het
Plxnc1 G A 10: 94,635,140 (GRCm39) S1362L probably damaging Het
Ppfia2 C T 10: 106,694,114 (GRCm39) A696V probably damaging Het
Prl A G 13: 27,243,515 (GRCm39) Y62C probably damaging Het
Rnf135 A G 11: 80,089,762 (GRCm39) D366G probably damaging Het
Rrp8 A G 7: 105,384,244 (GRCm39) L86P probably damaging Het
Rsph4a T C 10: 33,785,445 (GRCm39) V452A probably damaging Het
Runx2 C A 17: 44,950,570 (GRCm39) V410L probably benign Het
Samd9l T C 6: 3,376,665 (GRCm39) T199A probably damaging Het
Sik3 T C 9: 46,120,365 (GRCm39) S745P probably damaging Het
Slc35e1 T A 8: 73,241,973 (GRCm39) S250C probably damaging Het
Snx31 A G 15: 36,537,698 (GRCm39) F160S probably damaging Het
Spata31g1 A G 4: 42,971,261 (GRCm39) D198G probably benign Het
Stim2 T A 5: 54,156,257 (GRCm39) V11E probably benign Het
Tektl1 A G 10: 78,588,306 (GRCm39) V168A probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tox4 T C 14: 52,524,318 (GRCm39) S151P probably damaging Het
Trim34b A T 7: 103,985,319 (GRCm39) D318V probably damaging Het
Ubtd1 T C 19: 42,022,195 (GRCm39) S156P probably damaging Het
Usp34 C A 11: 23,434,143 (GRCm39) L3240M Het
Vmn1r56 T C 7: 5,198,805 (GRCm39) S271G probably damaging Het
Vps13b T C 15: 35,472,212 (GRCm39) probably benign Het
Vps13c T C 9: 67,853,110 (GRCm39) F2401S probably damaging Het
Zbtb11 G A 16: 55,802,637 (GRCm39) V216I probably damaging Het
Zfp931 T C 2: 177,709,589 (GRCm39) T266A possibly damaging Het
Zfp956 A G 6: 47,933,042 (GRCm39) M106V probably benign Het
Other mutations in Nup88
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02081:Nup88 APN 11 70,845,480 (GRCm39) splice site probably benign
IGL02219:Nup88 APN 11 70,860,518 (GRCm39) missense probably benign 0.45
IGL02433:Nup88 APN 11 70,860,714 (GRCm39) missense probably benign 0.13
IGL02666:Nup88 APN 11 70,834,695 (GRCm39) intron probably benign
IGL02669:Nup88 APN 11 70,847,110 (GRCm39) missense probably damaging 0.99
IGL02951:Nup88 APN 11 70,835,698 (GRCm39) missense possibly damaging 0.94
unholy UTSW 11 70,847,018 (GRCm39) missense probably damaging 1.00
PIT4515001:Nup88 UTSW 11 70,835,547 (GRCm39) missense probably benign 0.00
R0445:Nup88 UTSW 11 70,838,555 (GRCm39) missense probably benign 0.44
R0737:Nup88 UTSW 11 70,860,776 (GRCm39) start codon destroyed probably null 0.90
R0920:Nup88 UTSW 11 70,847,146 (GRCm39) missense possibly damaging 0.80
R1337:Nup88 UTSW 11 70,835,716 (GRCm39) missense probably damaging 1.00
R2208:Nup88 UTSW 11 70,856,545 (GRCm39) missense probably damaging 1.00
R3735:Nup88 UTSW 11 70,847,018 (GRCm39) missense probably damaging 1.00
R4577:Nup88 UTSW 11 70,860,543 (GRCm39) missense probably damaging 0.96
R4600:Nup88 UTSW 11 70,860,522 (GRCm39) nonsense probably null
R4663:Nup88 UTSW 11 70,856,672 (GRCm39) splice site probably null
R4812:Nup88 UTSW 11 70,856,552 (GRCm39) missense probably damaging 1.00
R4824:Nup88 UTSW 11 70,852,450 (GRCm39) missense probably benign 0.10
R5333:Nup88 UTSW 11 70,835,842 (GRCm39) intron probably benign
R5338:Nup88 UTSW 11 70,835,734 (GRCm39) missense probably damaging 0.98
R5443:Nup88 UTSW 11 70,849,256 (GRCm39) nonsense probably null
R5605:Nup88 UTSW 11 70,834,896 (GRCm39) intron probably benign
R5869:Nup88 UTSW 11 70,860,497 (GRCm39) missense probably benign
R6287:Nup88 UTSW 11 70,856,581 (GRCm39) missense probably benign 0.39
R6364:Nup88 UTSW 11 70,838,612 (GRCm39) missense probably benign
R6409:Nup88 UTSW 11 70,835,798 (GRCm39) missense probably null 0.71
R6555:Nup88 UTSW 11 70,835,006 (GRCm39) missense possibly damaging 0.62
R7203:Nup88 UTSW 11 70,836,080 (GRCm39) missense probably benign 0.20
R7606:Nup88 UTSW 11 70,852,441 (GRCm39) missense possibly damaging 0.89
R7620:Nup88 UTSW 11 70,860,605 (GRCm39) missense probably benign 0.00
R7681:Nup88 UTSW 11 70,860,711 (GRCm39) missense probably benign 0.05
R8283:Nup88 UTSW 11 70,849,166 (GRCm39) missense probably benign
R8379:Nup88 UTSW 11 70,860,607 (GRCm39) missense possibly damaging 0.72
R8684:Nup88 UTSW 11 70,860,687 (GRCm39) missense probably benign
R9368:Nup88 UTSW 11 70,858,756 (GRCm39) missense probably damaging 0.99
R9748:Nup88 UTSW 11 70,860,497 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTTTCGCTGGTAGGCACTG -3'
(R):5'- CCTCACCAAATTCTTGAGCTAC -3'

Sequencing Primer
(F):5'- CTGGTAGGCACTGAGAGTAATG -3'
(R):5'- TGAGCTACAAACTTTGTTTCTCTTG -3'
Posted On 2021-04-30