Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02563:Nup214'

298737

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup214

Ensembl Gene

ENSMUSG00000001855

Gene Name

nucleoporin 214

Synonyms

CAN, D2H9S46E

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02563

Quality Score

Status

Chromosome

Chromosomal Location

31864446-31943204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31867872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 113 (S113F)

Ref Sequence

ENSEMBL: ENSMUSP00000066492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001920] [ENSMUST00000065398]

AlphaFold

Q80U93

Predicted Effect

probably benign
Transcript: ENSMUST00000001920

SMART Domains

Protein: ENSMUSP00000001920
Gene: ENSMUSG00000001864

Domain	Start	End	E-Value	Type
PDB:2VTG\|A	1	150	1e-103	PDB
SCOP:d1el4a_	35	115	2e-9	SMART
Blast:EFh	51	79	3e-11	BLAST
Blast:EFh	87	115	1e-10	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000065398
AA Change: S113F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066492
Gene: ENSMUSG00000001855
AA Change: S113F

Domain	Start	End	E-Value	Type
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: ENSMUST00000129496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130975

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	T	2: 35,270,410 (GRCm39)	V97E	probably damaging	Het
Abhd16a	C	T	17: 35,320,221 (GRCm39)	T362M	probably damaging	Het
Adam23	T	G	1: 63,607,136 (GRCm39)		probably benign	Het
Apeh	C	A	9: 107,970,908 (GRCm39)	R87L	possibly damaging	Het
Arid3a	T	A	10: 79,786,717 (GRCm39)	M490K	probably damaging	Het
Atp6v1b1	T	A	6: 83,732,433 (GRCm39)	V251D	probably benign	Het
Cog8	C	T	8: 107,783,055 (GRCm39)	R78Q	possibly damaging	Het
Cyld	T	C	8: 89,462,522 (GRCm39)	I701T	probably damaging	Het
Dmgdh	A	G	13: 93,811,047 (GRCm39)		probably benign	Het
Dnm1	T	C	2: 32,205,931 (GRCm39)		probably null	Het
Dop1b	T	A	16: 93,574,293 (GRCm39)	V2D	probably damaging	Het
Dusp22	A	T	13: 30,889,628 (GRCm39)	S70C	possibly damaging	Het
Dync2h1	T	C	9: 7,035,700 (GRCm39)	Q3415R	possibly damaging	Het
Dysf	T	C	6: 84,163,498 (GRCm39)		probably benign	Het
Fam114a1	G	A	5: 65,163,491 (GRCm39)		probably null	Het
Fam20a	T	A	11: 109,568,620 (GRCm39)	Q302L	possibly damaging	Het
Fancm	T	A	12: 65,139,236 (GRCm39)	L374H	probably damaging	Het
Fcgbpl1	G	A	7: 27,857,317 (GRCm39)	E2222K	probably benign	Het
Fgf17	G	A	14: 70,874,178 (GRCm39)	Q204*	probably null	Het
Gap43	T	C	16: 42,112,495 (GRCm39)	T89A	probably benign	Het
Gm5069	A	G	1: 180,155,464 (GRCm39)		probably benign	Het
Gm9913	C	T	2: 125,348,254 (GRCm39)		probably benign	Het
Gpr174	T	C	X: 106,336,854 (GRCm39)	L222P	probably benign	Het
Grid2	A	T	6: 64,322,857 (GRCm39)	Q619L	possibly damaging	Het
Hoxc13	A	G	15: 102,830,233 (GRCm39)	D204G	possibly damaging	Het
Itgav	T	C	2: 83,601,580 (GRCm39)	V317A	probably benign	Het
Keg1	A	T	19: 12,696,521 (GRCm39)	N288I	probably damaging	Het
Ksr1	C	T	11: 78,935,684 (GRCm39)	V234I	possibly damaging	Het
Lrp1	T	A	10: 127,387,555 (GRCm39)	D3365V	probably damaging	Het
Luc7l3	A	T	11: 94,190,894 (GRCm39)		probably null	Het
Mta2	T	C	19: 8,925,415 (GRCm39)	I348T	probably benign	Het
Nphp4	A	G	4: 152,640,677 (GRCm39)	I1015V	probably benign	Het
Or4f7	T	C	2: 111,644,162 (GRCm39)	K303R	probably benign	Het
Pabpn1l	T	A	8: 123,347,122 (GRCm39)	T228S	probably damaging	Het
Paxx	T	C	2: 25,349,674 (GRCm39)	*206W	probably null	Het
Pcdhb10	A	G	18: 37,546,126 (GRCm39)	T401A	probably benign	Het
Ppp1r3a	A	C	6: 14,719,761 (GRCm39)	D384E	probably benign	Het
Rif1	T	C	2: 51,967,077 (GRCm39)	V122A	probably damaging	Het
Scn4b	T	C	9: 45,057,980 (GRCm39)	L24P	probably damaging	Het
Sec22c	T	C	9: 121,513,716 (GRCm39)		probably benign	Het
Sh3rf2	A	G	18: 42,289,207 (GRCm39)	D676G	probably damaging	Het
Slc20a1	A	G	2: 129,049,604 (GRCm39)	T289A	probably benign	Het
Tekt2	T	C	4: 126,218,418 (GRCm39)	D84G	possibly damaging	Het
Tgfbr2	T	A	9: 115,959,066 (GRCm39)	N116I	probably benign	Het
Tmem196	A	G	12: 119,910,209 (GRCm39)	M1V	probably null	Het
Tnn	A	G	1: 159,942,123 (GRCm39)	V1125A	probably damaging	Het
Vmn2r51	A	T	7: 9,834,243 (GRCm39)	M265K	probably benign	Het
Zfp319	T	C	8: 96,050,362 (GRCm39)		probably benign	Het
Zfp65	A	T	13: 67,856,184 (GRCm39)	V365E	possibly damaging	Het
Zp3	T	A	5: 136,016,464 (GRCm39)		probably null	Het

Other mutations in Nup214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16