Incidental Mutation 'R5695:Nup214'
ID 443855
Institutional Source Beutler Lab
Gene Symbol Nup214
Ensembl Gene ENSMUSG00000001855
Gene Name nucleoporin 214
Synonyms CAN, D2H9S46E
MMRRC Submission 043326-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5695 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 31864446-31943204 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31924385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1638 (T1638K)
Ref Sequence ENSEMBL: ENSMUSP00000066492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065398] [ENSMUST00000138012]
AlphaFold Q80U93
Predicted Effect probably damaging
Transcript: ENSMUST00000065398
AA Change: T1638K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000066492
Gene: ENSMUSG00000001855
AA Change: T1638K

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000138012
AA Change: T133K

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115665
Gene: ENSMUSG00000001855
AA Change: T133K

DomainStartEndE-ValueType
low complexity region 54 68 N/A INTRINSIC
low complexity region 106 137 N/A INTRINSIC
low complexity region 153 165 N/A INTRINSIC
low complexity region 181 210 N/A INTRINSIC
low complexity region 228 243 N/A INTRINSIC
low complexity region 266 278 N/A INTRINSIC
low complexity region 294 327 N/A INTRINSIC
low complexity region 348 368 N/A INTRINSIC
low complexity region 373 382 N/A INTRINSIC
low complexity region 394 406 N/A INTRINSIC
low complexity region 421 430 N/A INTRINSIC
low complexity region 465 491 N/A INTRINSIC
low complexity region 503 528 N/A INTRINSIC
low complexity region 544 572 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 98% (58/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T A 12: 84,660,745 (GRCm39) H116L probably damaging Het
Anapc4 C T 5: 53,019,581 (GRCm39) S581L probably benign Het
Ano8 A C 8: 71,935,887 (GRCm39) D276E probably damaging Het
Aspm G A 1: 139,407,407 (GRCm39) R2098H probably benign Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Bpifb4 G A 2: 153,784,843 (GRCm39) G184S probably damaging Het
Cbx8 T C 11: 118,930,137 (GRCm39) D152G probably benign Het
Cdca2 A G 14: 67,943,078 (GRCm39) probably null Het
Cgn G A 3: 94,680,945 (GRCm39) A531V probably benign Het
Cmya5 C A 13: 93,182,374 (GRCm39) probably null Het
Cntnap3 A G 13: 64,935,769 (GRCm39) S365P probably damaging Het
Crnn A G 3: 93,056,330 (GRCm39) Q372R probably damaging Het
Ehf T A 2: 103,097,124 (GRCm39) E276V probably damaging Het
Eif4g3 T A 4: 137,890,744 (GRCm39) probably null Het
Enpep C T 3: 129,102,748 (GRCm39) D403N probably damaging Het
Enpp1 T C 10: 24,530,806 (GRCm39) E550G probably damaging Het
Entpd8 A G 2: 24,974,346 (GRCm39) D377G probably benign Het
Epc2 T A 2: 49,437,619 (GRCm39) probably null Het
Erich3 G T 3: 154,439,210 (GRCm39) G481V probably damaging Het
Fank1 A G 7: 133,471,075 (GRCm39) Y156C probably damaging Het
Fras1 A G 5: 96,929,203 (GRCm39) D3869G probably damaging Het
Gcnt2 A G 13: 41,071,675 (GRCm39) D106G probably benign Het
Gm20830 A T Y: 6,916,501 (GRCm39) V206E probably benign Het
Gmpr2 T C 14: 55,914,691 (GRCm39) V228A possibly damaging Het
Gon4l TGAGCA TGAGCAGAGCA 3: 88,803,523 (GRCm39) probably null Het
Gtpbp1 G A 15: 79,596,375 (GRCm39) probably null Het
Hhat A T 1: 192,399,327 (GRCm39) M271K probably damaging Het
Hipk2 A T 6: 38,795,810 (GRCm39) M153K possibly damaging Het
Hydin A T 8: 111,261,915 (GRCm39) H2672L probably benign Het
Igfbpl1 A T 4: 45,826,374 (GRCm39) D140E probably damaging Het
Kctd1 T G 18: 15,196,573 (GRCm39) probably benign Het
Lax1 A T 1: 133,608,316 (GRCm39) Y142N probably damaging Het
Lpin2 C T 17: 71,551,798 (GRCm39) R733C probably damaging Het
Morn4 A G 19: 42,064,556 (GRCm39) L144P possibly damaging Het
Nyap1 C T 5: 137,733,246 (GRCm39) A596T probably damaging Het
Oas1d T C 5: 121,053,074 (GRCm39) M43T probably benign Het
Or4l15 T C 14: 50,198,080 (GRCm39) T150A probably benign Het
Or6x1 T C 9: 40,098,897 (GRCm39) V162A probably benign Het
Or8b42 A G 9: 38,342,472 (GRCm39) H298R probably benign Het
Pacs1 A G 19: 5,186,819 (GRCm39) F851S probably damaging Het
Pcdh17 A G 14: 84,683,800 (GRCm39) Q89R probably damaging Het
Phrf1 A G 7: 140,838,378 (GRCm39) probably benign Het
Plekhb1 A T 7: 100,304,602 (GRCm39) I34N probably damaging Het
Ralgapa2 T C 2: 146,175,397 (GRCm39) E1800G probably damaging Het
Rbm33 A T 5: 28,544,010 (GRCm39) I89F probably damaging Het
Rtl1 T A 12: 109,560,531 (GRCm39) E436V probably damaging Het
Slc2a4 G T 11: 69,837,217 (GRCm39) P73Q probably damaging Het
Sorbs2 A T 8: 46,245,912 (GRCm39) T311S probably benign Het
Sulf2 G A 2: 165,974,678 (GRCm39) A2V probably benign Het
Supt16 A T 14: 52,411,601 (GRCm39) probably null Het
Vmn1r26 A T 6: 57,985,738 (GRCm39) N150K probably damaging Het
Vmn2r39 T A 7: 9,028,150 (GRCm39) H407L possibly damaging Het
Vmn2r84 T A 10: 130,225,064 (GRCm39) Y482F probably benign Het
Vps9d1 T C 8: 123,973,655 (GRCm39) E376G probably benign Het
Wrn C A 8: 33,814,346 (GRCm39) G366V 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
R1168:Nup214 UTSW 2 31,915,313 (GRCm39) missense probably benign
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
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 PCR Primer
(F):5'- TCTGCCAGCTTTGTGGCATC -3'
(R):5'- TGCCAAACCCTGAACTGCTG -3'

Sequencing Primer
(F):5'- TGGCATCCACAGAGTCCATG -3'
(R):5'- AACCCTGAACTGCTGGCCTG -3'
Posted On 2016-11-09