Incidental Mutation 'R1168:Nup214'
ID 101240
Institutional Source Beutler Lab
Gene Symbol Nup214
Ensembl Gene ENSMUSG00000001855
Gene Name nucleoporin 214
Synonyms CAN, D2H9S46E
MMRRC Submission 039241-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1168 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 31864446-31943204 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31915313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1166 (N1166D)
Ref Sequence ENSEMBL: ENSMUSP00000066492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065398]
AlphaFold Q80U93
Predicted Effect probably benign
Transcript: ENSMUST00000065398
AA Change: N1166D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066492
Gene: ENSMUSG00000001855
AA Change: N1166D

DomainStartEndE-ValueType
WD40 138 178 2.48e0 SMART
WD40 182 220 2.67e-1 SMART
low complexity region 428 441 N/A INTRINSIC
low complexity region 449 467 N/A INTRINSIC
low complexity region 474 493 N/A INTRINSIC
low complexity region 529 546 N/A INTRINSIC
low complexity region 620 640 N/A INTRINSIC
low complexity region 645 656 N/A INTRINSIC
coiled coil region 853 881 N/A INTRINSIC
internal_repeat_1 969 993 1.13e-9 PROSPERO
internal_repeat_1 985 1009 1.13e-9 PROSPERO
low complexity region 1011 1026 N/A INTRINSIC
low complexity region 1049 1064 N/A INTRINSIC
low complexity region 1093 1111 N/A INTRINSIC
low complexity region 1201 1215 N/A INTRINSIC
low complexity region 1226 1248 N/A INTRINSIC
low complexity region 1279 1296 N/A INTRINSIC
low complexity region 1300 1311 N/A INTRINSIC
low complexity region 1391 1426 N/A INTRINSIC
low complexity region 1438 1454 N/A INTRINSIC
low complexity region 1458 1505 N/A INTRINSIC
low complexity region 1559 1573 N/A INTRINSIC
low complexity region 1611 1642 N/A INTRINSIC
low complexity region 1658 1670 N/A INTRINSIC
low complexity region 1686 1715 N/A INTRINSIC
low complexity region 1733 1748 N/A INTRINSIC
low complexity region 1771 1783 N/A INTRINSIC
low complexity region 1799 1832 N/A INTRINSIC
low complexity region 1853 1872 N/A INTRINSIC
low complexity region 1877 1886 N/A INTRINSIC
low complexity region 1898 1910 N/A INTRINSIC
low complexity region 1925 1934 N/A INTRINSIC
low complexity region 1969 1995 N/A INTRINSIC
low complexity region 2007 2032 N/A INTRINSIC
low complexity region 2048 2076 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123062
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency
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 are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Embryos homozygous for a null mutation die between 4.0 and 4.5 dpc, following depletion of maternally-derived gene product. In vitro, cultured 3.5-dpc mutant embryos arrest in the G2 phase, and show blastocoel contraction with defects in NLS-mediated protein import and polyadenylated RNA export. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,773,661 (GRCm39) V950A probably benign Het
Adgrb3 A T 1: 25,865,280 (GRCm39) S188T probably benign Het
Ahr A T 12: 35,554,531 (GRCm39) N529K possibly damaging Het
Akr1c21 A G 13: 4,633,836 (GRCm39) N302D probably benign Het
Aldh8a1 T A 10: 21,260,530 (GRCm39) probably null Het
Alpk3 A T 7: 80,753,105 (GRCm39) K1554M probably damaging Het
Arhgef5 T A 6: 43,250,330 (GRCm39) H360Q probably benign Het
Cacna1a A G 8: 85,306,130 (GRCm39) I1293V probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cd200r4 T A 16: 44,653,307 (GRCm39) W72R probably damaging Het
Ces2e A T 8: 105,653,646 (GRCm39) D28V possibly damaging Het
Cfap20dc T C 14: 8,442,939 (GRCm38) N610S probably benign Het
Cfap45 T C 1: 172,373,264 (GRCm39) Y534H probably damaging Het
Cfap54 A T 10: 92,773,782 (GRCm39) C87S probably damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Chrna4 T A 2: 180,675,931 (GRCm39) M67L possibly damaging Het
Cplx3 G A 9: 57,515,595 (GRCm39) R427C probably benign Het
Cts7 T A 13: 61,501,631 (GRCm39) N290Y probably damaging Het
Enpp6 A T 8: 47,483,489 (GRCm39) M94L probably damaging Het
Fam83d C T 2: 158,610,443 (GRCm39) A137V probably benign Het
Foxd2 C T 4: 114,764,875 (GRCm39) A382T possibly damaging Het
Galnt11 T G 5: 25,455,244 (GRCm39) S193R probably damaging Het
Gapvd1 A T 2: 34,594,481 (GRCm39) D856E probably damaging Het
Gclm T A 3: 122,056,337 (GRCm39) H86Q possibly damaging Het
Gipc2 T C 3: 151,813,634 (GRCm39) T220A probably benign Het
Gm12185 G T 11: 48,806,182 (GRCm39) N336K possibly damaging Het
Gm5431 A T 11: 48,786,191 (GRCm39) S61R probably benign Het
Gorasp2 C T 2: 70,518,744 (GRCm39) P260S probably damaging Het
H2-M10.6 A G 17: 37,124,052 (GRCm39) Q172R probably benign Het
Ibsp A G 5: 104,450,018 (GRCm39) I6V probably damaging Het
Iqsec1 T C 6: 90,666,658 (GRCm39) Y593C probably damaging Het
Irag1 T C 7: 110,495,138 (GRCm39) K429R probably damaging Het
Itln1 G T 1: 171,359,119 (GRCm39) Y61* probably null Het
Kif21a G A 15: 90,877,956 (GRCm39) T284I probably damaging Het
Kif3a G A 11: 53,489,139 (GRCm39) G621R probably damaging Het
Klb A G 5: 65,536,317 (GRCm39) Y549C probably damaging Het
Lrrc37 T C 11: 103,509,776 (GRCm39) probably benign Het
Map4 T C 9: 109,864,032 (GRCm39) V419A probably benign Het
Mastl A T 2: 23,023,144 (GRCm39) D526E probably benign Het
Mtif2 A G 11: 29,486,914 (GRCm39) D308G probably benign Het
Ncald A G 15: 37,397,578 (GRCm39) F34S probably damaging Het
Ndc1 A G 4: 107,253,009 (GRCm39) T593A probably benign Het
Ndst3 C T 3: 123,400,617 (GRCm39) V15I probably benign Het
Or1a1 A G 11: 74,087,247 (GRCm39) H306R probably benign Het
Or2ad1 A G 13: 21,326,787 (GRCm39) S147P probably benign Het
Or4a68 G A 2: 89,270,213 (GRCm39) Q137* probably null Het
Or5m8 A T 2: 85,823,028 (GRCm39) Y289F probably damaging Het
Pcdhb8 T C 18: 37,489,780 (GRCm39) I486T probably benign Het
Pdzrn4 A T 15: 92,668,152 (GRCm39) Y768F probably benign Het
Pgf A G 12: 85,218,541 (GRCm39) S70P probably benign Het
Plcl2 G A 17: 50,914,100 (GRCm39) A370T possibly damaging Het
Pnkp T A 7: 44,511,961 (GRCm39) W115R probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prag1 A G 8: 36,613,799 (GRCm39) E1117G probably damaging Het
Prr12 T A 7: 44,678,471 (GRCm39) Q1919L unknown Het
Ret G T 6: 118,150,519 (GRCm39) H666N possibly damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Robo2 C T 16: 73,745,184 (GRCm39) G864S probably damaging Het
Rpa2 T G 4: 132,499,171 (GRCm39) I80S probably damaging Het
Ryk A T 9: 102,775,674 (GRCm39) D428V probably damaging Het
Slc29a1 A T 17: 45,901,204 (GRCm39) N30K probably damaging Het
Stbd1 A G 5: 92,752,795 (GRCm39) N95S probably benign Het
Tbc1d22a A G 15: 86,176,335 (GRCm39) E212G probably benign Het
Tex14 A G 11: 87,427,568 (GRCm39) T7A probably benign Het
Tmc8 T C 11: 117,683,389 (GRCm39) V648A possibly damaging Het
Tmem132b G T 5: 125,864,083 (GRCm39) V730F probably damaging Het
Tmub2 G A 11: 102,178,196 (GRCm39) G33D possibly damaging Het
Trak1 G A 9: 121,269,745 (GRCm39) D124N probably damaging Het
Ttc28 A T 5: 111,378,977 (GRCm39) Y1154F probably damaging Het
Ttn T C 2: 76,739,713 (GRCm39) T3609A probably benign Het
Tulp2 A G 7: 45,167,266 (GRCm39) T99A probably benign Het
Ugt2a2 A T 5: 87,613,427 (GRCm39) probably null Het
Ush2a G A 1: 188,410,608 (GRCm39) V2419I probably benign Het
Vill C A 9: 118,899,389 (GRCm39) P343Q probably damaging Het
Vmn2r66 T A 7: 84,656,062 (GRCm39) H318L possibly damaging Het
Wdr3 A C 3: 100,049,535 (GRCm39) N800K probably benign Het
Wdr93 A G 7: 79,398,922 (GRCm39) K19E probably damaging Het
Wrn A G 8: 33,806,436 (GRCm39) S333P probably damaging Het
Zfp418 T C 7: 7,185,500 (GRCm39) S488P possibly damaging Het
Zfp804a A G 2: 82,087,041 (GRCm39) E290G probably benign Het
Other mutations in Nup214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Nup214 APN 2 31,923,991 (GRCm39) missense probably damaging 1.00
IGL00649:Nup214 APN 2 31,896,733 (GRCm39) missense probably benign 0.27
IGL01149:Nup214 APN 2 31,924,712 (GRCm39) missense probably damaging 1.00
IGL01360:Nup214 APN 2 31,928,190 (GRCm39) unclassified probably benign
IGL01409:Nup214 APN 2 31,916,943 (GRCm39) splice site probably null
IGL01530:Nup214 APN 2 31,923,733 (GRCm39) missense probably benign
IGL01554:Nup214 APN 2 31,941,084 (GRCm39) nonsense probably null
IGL01944:Nup214 APN 2 31,924,971 (GRCm39) nonsense probably null
IGL02296:Nup214 APN 2 31,878,200 (GRCm39) missense possibly damaging 0.65
IGL02563:Nup214 APN 2 31,867,872 (GRCm39) missense probably damaging 1.00
IGL02688:Nup214 APN 2 31,921,287 (GRCm39) missense probably benign
IGL02858:Nup214 APN 2 31,900,384 (GRCm39) splice site probably benign
IGL02953:Nup214 APN 2 31,878,241 (GRCm39) missense possibly damaging 0.87
IGL03090:Nup214 APN 2 31,908,254 (GRCm39) missense probably benign 0.01
IGL03124:Nup214 APN 2 31,886,452 (GRCm39) missense probably benign 0.27
IGL03225:Nup214 APN 2 31,924,423 (GRCm39) missense probably damaging 1.00
IGL03375:Nup214 APN 2 31,900,233 (GRCm39) missense probably damaging 0.97
Des_moines UTSW 2 31,870,596 (GRCm39) splice site probably null
ANU74:Nup214 UTSW 2 31,924,978 (GRCm39) missense probably damaging 0.99
R0035:Nup214 UTSW 2 31,880,379 (GRCm39) splice site probably null
R0243:Nup214 UTSW 2 31,888,069 (GRCm39) splice site probably benign
R0270:Nup214 UTSW 2 31,924,826 (GRCm39) missense probably damaging 0.96
R0358:Nup214 UTSW 2 31,894,312 (GRCm39) splice site probably null
R1242:Nup214 UTSW 2 31,867,782 (GRCm39) missense probably benign 0.00
R1481:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R1482:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R1579:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R1580:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R1581:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R1610:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R1894:Nup214 UTSW 2 31,886,392 (GRCm39) missense possibly damaging 0.66
R2146:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R2149:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R2293:Nup214 UTSW 2 31,916,887 (GRCm39) missense probably benign
R2924:Nup214 UTSW 2 31,888,015 (GRCm39) missense probably damaging 1.00
R2925:Nup214 UTSW 2 31,888,015 (GRCm39) missense probably damaging 1.00
R3037:Nup214 UTSW 2 31,866,632 (GRCm39) missense probably benign 0.00
R3426:Nup214 UTSW 2 31,923,415 (GRCm39) missense probably damaging 0.97
R3799:Nup214 UTSW 2 31,924,694 (GRCm39) missense probably damaging 1.00
R3843:Nup214 UTSW 2 31,941,112 (GRCm39) missense probably damaging 1.00
R4323:Nup214 UTSW 2 31,884,696 (GRCm39) missense probably benign
R4353:Nup214 UTSW 2 31,867,929 (GRCm39) critical splice donor site probably null
R4601:Nup214 UTSW 2 31,887,977 (GRCm39) missense probably benign 0.36
R4626:Nup214 UTSW 2 31,923,416 (GRCm39) missense possibly damaging 0.92
R4874:Nup214 UTSW 2 31,870,596 (GRCm39) splice site probably null
R4938:Nup214 UTSW 2 31,873,171 (GRCm39) missense probably benign 0.00
R4939:Nup214 UTSW 2 31,873,171 (GRCm39) missense probably benign 0.00
R5027:Nup214 UTSW 2 31,881,329 (GRCm39) missense probably damaging 1.00
R5358:Nup214 UTSW 2 31,907,158 (GRCm39) missense unknown
R5406:Nup214 UTSW 2 31,892,619 (GRCm39) missense probably damaging 0.96
R5507:Nup214 UTSW 2 31,878,188 (GRCm39) missense possibly damaging 0.87
R5695:Nup214 UTSW 2 31,924,385 (GRCm39) missense probably damaging 1.00
R5744:Nup214 UTSW 2 31,900,308 (GRCm39) missense probably damaging 0.97
R5908:Nup214 UTSW 2 31,881,353 (GRCm39) missense probably benign 0.03
R5967:Nup214 UTSW 2 31,869,790 (GRCm39) missense possibly damaging 0.52
R6140:Nup214 UTSW 2 31,941,808 (GRCm39) missense possibly damaging 0.92
R6243:Nup214 UTSW 2 31,892,944 (GRCm39) missense possibly damaging 0.81
R6488:Nup214 UTSW 2 31,881,384 (GRCm39) missense possibly damaging 0.93
R6934:Nup214 UTSW 2 31,872,683 (GRCm39) nonsense probably null
R6970:Nup214 UTSW 2 31,941,810 (GRCm39) missense probably damaging 1.00
R7028:Nup214 UTSW 2 31,924,168 (GRCm39) missense probably benign 0.22
R7114:Nup214 UTSW 2 31,915,256 (GRCm39) missense possibly damaging 0.83
R7120:Nup214 UTSW 2 31,941,054 (GRCm39) missense probably benign 0.07
R7249:Nup214 UTSW 2 31,878,245 (GRCm39) missense possibly damaging 0.92
R7821:Nup214 UTSW 2 31,916,917 (GRCm39) missense possibly damaging 0.83
R8026:Nup214 UTSW 2 31,923,362 (GRCm39) missense possibly damaging 0.55
R8264:Nup214 UTSW 2 31,884,738 (GRCm39) missense possibly damaging 0.79
R8284:Nup214 UTSW 2 31,886,458 (GRCm39) missense possibly damaging 0.83
R8356:Nup214 UTSW 2 31,929,372 (GRCm39) missense probably benign 0.05
R8397:Nup214 UTSW 2 31,880,266 (GRCm39) missense probably damaging 0.96
R8456:Nup214 UTSW 2 31,929,372 (GRCm39) missense probably benign 0.05
R8785:Nup214 UTSW 2 31,924,465 (GRCm39) missense probably damaging 0.97
R9257:Nup214 UTSW 2 31,923,347 (GRCm39) missense possibly damaging 0.92
R9291:Nup214 UTSW 2 31,867,806 (GRCm39) missense probably benign 0.00
R9376:Nup214 UTSW 2 31,924,244 (GRCm39) missense probably benign 0.00
R9408:Nup214 UTSW 2 31,937,523 (GRCm39) missense probably damaging 1.00
R9613:Nup214 UTSW 2 31,901,035 (GRCm39) missense possibly damaging 0.90
R9789:Nup214 UTSW 2 31,907,227 (GRCm39) missense possibly damaging 0.46
RF015:Nup214 UTSW 2 31,924,718 (GRCm39) missense probably benign 0.00
X0026:Nup214 UTSW 2 31,910,318 (GRCm39) missense possibly damaging 0.46
X0065:Nup214 UTSW 2 31,932,488 (GRCm39) missense probably damaging 1.00
Z1088:Nup214 UTSW 2 31,901,235 (GRCm39) missense probably benign 0.27
Z1176:Nup214 UTSW 2 31,924,237 (GRCm39) nonsense probably null
Z1176:Nup214 UTSW 2 31,900,270 (GRCm39) missense possibly damaging 0.66
Z1177:Nup214 UTSW 2 31,887,971 (GRCm39) missense possibly damaging 0.83
Predicted Primers
Posted On 2014-01-15