Mutagenetix > Incidental Mutation

Incidental Mutation 'R1168:Nup214'

101240

Institutional Source

Beutler Lab

Gene Symbol

Nup214

Ensembl Gene

ENSMUSG00000001855

Gene Name

nucleoporin 214

Synonyms

CAN, D2H9S46E

MMRRC Submission

039241-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1168 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31974436-32053975 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32025301 bp (GRCm38)

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

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: 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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,067,900	V950A	probably benign	Het
4930452B06Rik	T	C	14: 8,442,939	N610S	probably benign	Het
Adgrb3	A	T	1: 25,826,199	S188T	probably benign	Het
Ahr	A	T	12: 35,504,532	N529K	possibly damaging	Het
Akr1c21	A	G	13: 4,583,837	N302D	probably benign	Het
Aldh8a1	T	A	10: 21,384,631		probably null	Het
Alpk3	A	T	7: 81,103,357	K1554M	probably damaging	Het
Arhgef5	T	A	6: 43,273,396	H360Q	probably benign	Het
Cacna1a	A	G	8: 84,579,501	I1293V	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cd200r4	T	A	16: 44,832,944	W72R	probably damaging	Het
Ces2e	A	T	8: 104,927,014	D28V	possibly damaging	Het
Cfap45	T	C	1: 172,545,697	Y534H	probably damaging	Het
Cfap54	A	T	10: 92,937,920	C87S	probably damaging	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Chrna4	T	A	2: 181,034,138	M67L	possibly damaging	Het
Cts7	T	A	13: 61,353,817	N290Y	probably damaging	Het
Enpp6	A	T	8: 47,030,454	M94L	probably damaging	Het
Fam83d	C	T	2: 158,768,523	A137V	probably benign	Het
Foxd2	C	T	4: 114,907,678	A382T	possibly damaging	Het
Galnt11	T	G	5: 25,250,246	S193R	probably damaging	Het
Gapvd1	A	T	2: 34,704,469	D856E	probably damaging	Het
Gclm	T	A	3: 122,262,688	H86Q	possibly damaging	Het
Gipc2	T	C	3: 152,107,997	T220A	probably benign	Het
Gm12185	G	T	11: 48,915,355	N336K	possibly damaging	Het
Gm5431	A	T	11: 48,895,364	S61R	probably benign	Het
Gm884	T	C	11: 103,618,950		probably benign	Het
Gorasp2	C	T	2: 70,688,400	P260S	probably damaging	Het
H2-M10.6	A	G	17: 36,813,160	Q172R	probably benign	Het
Ibsp	A	G	5: 104,302,152	I6V	probably damaging	Het
Iqsec1	T	C	6: 90,689,676	Y593C	probably damaging	Het
Itln1	G	T	1: 171,531,551	Y61*	probably null	Het
Kif21a	G	A	15: 90,993,753	T284I	probably damaging	Het
Kif3a	G	A	11: 53,598,312	G621R	probably damaging	Het
Klb	A	G	5: 65,378,974	Y549C	probably damaging	Het
Lman1l	G	A	9: 57,608,312	R427C	probably benign	Het
Map4	T	C	9: 110,034,964	V419A	probably benign	Het
Mastl	A	T	2: 23,133,132	D526E	probably benign	Het
Mrvi1	T	C	7: 110,895,931	K429R	probably damaging	Het
Mtif2	A	G	11: 29,536,914	D308G	probably benign	Het
Ncald	A	G	15: 37,397,334	F34S	probably damaging	Het
Ndc1	A	G	4: 107,395,812	T593A	probably benign	Het
Ndst3	C	T	3: 123,606,968	V15I	probably benign	Het
Olfr1031	A	T	2: 85,992,684	Y289F	probably damaging	Het
Olfr1240	G	A	2: 89,439,869	Q137*	probably null	Het
Olfr1368	A	G	13: 21,142,617	S147P	probably benign	Het
Olfr403	A	G	11: 74,196,421	H306R	probably benign	Het
Pcdhb8	T	C	18: 37,356,727	I486T	probably benign	Het
Pdzrn4	A	T	15: 92,770,271	Y768F	probably benign	Het
Pgf	A	G	12: 85,171,767	S70P	probably benign	Het
Plcl2	G	A	17: 50,607,072	A370T	possibly damaging	Het
Pnkp	T	A	7: 44,862,537	W115R	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prag1	A	G	8: 36,146,645	E1117G	probably damaging	Het
Prr12	T	A	7: 45,029,047	Q1919L	unknown	Het
Ret	G	T	6: 118,173,558	H666N	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Robo2	C	T	16: 73,948,296	G864S	probably damaging	Het
Rpa2	T	G	4: 132,771,860	I80S	probably damaging	Het
Ryk	A	T	9: 102,898,475	D428V	probably damaging	Het
Slc29a1	A	T	17: 45,590,278	N30K	probably damaging	Het
Stbd1	A	G	5: 92,604,936	N95S	probably benign	Het
Tbc1d22a	A	G	15: 86,292,134	E212G	probably benign	Het
Tex14	A	G	11: 87,536,742	T7A	probably benign	Het
Tmc8	T	C	11: 117,792,563	V648A	possibly damaging	Het
Tmem132b	G	T	5: 125,787,019	V730F	probably damaging	Het
Tmub2	G	A	11: 102,287,370	G33D	possibly damaging	Het
Trak1	G	A	9: 121,440,679	D124N	probably damaging	Het
Ttc28	A	T	5: 111,231,111	Y1154F	probably damaging	Het
Ttn	T	C	2: 76,909,369	T3609A	probably benign	Het
Tulp2	A	G	7: 45,517,842	T99A	probably benign	Het
Ugt2a2	A	T	5: 87,465,568		probably null	Het
Ush2a	G	A	1: 188,678,411	V2419I	probably benign	Het
Vill	C	A	9: 119,070,321	P343Q	probably damaging	Het
Vmn2r66	T	A	7: 85,006,854	H318L	possibly damaging	Het
Wdr3	A	C	3: 100,142,219	N800K	probably benign	Het
Wdr93	A	G	7: 79,749,174	K19E	probably damaging	Het
Wrn	A	G	8: 33,316,408	S333P	probably damaging	Het
Zfp418	T	C	7: 7,182,501	S488P	possibly damaging	Het
Zfp804a	A	G	2: 82,256,697	E290G	probably benign	Het

Other mutations in Nup214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Nup214	APN	2	32033979	missense	probably damaging	1.00
IGL00649:Nup214	APN	2	32006721	missense	probably benign	0.27
IGL01149:Nup214	APN	2	32034700	missense	probably damaging	1.00
IGL01360:Nup214	APN	2	32038178	unclassified	probably benign
IGL01409:Nup214	APN	2	32026931	splice site	probably null
IGL01530:Nup214	APN	2	32033721	missense	probably benign
IGL01554:Nup214	APN	2	32051072	nonsense	probably null
IGL01944:Nup214	APN	2	32034959	nonsense	probably null
IGL02296:Nup214	APN	2	31988188	missense	possibly damaging	0.65
IGL02563:Nup214	APN	2	31977860	missense	probably damaging	1.00
IGL02688:Nup214	APN	2	32031275	missense	probably benign
IGL02858:Nup214	APN	2	32010372	splice site	probably benign
IGL02953:Nup214	APN	2	31988229	missense	possibly damaging	0.87
IGL03090:Nup214	APN	2	32018242	missense	probably benign	0.01
IGL03124:Nup214	APN	2	31996440	missense	probably benign	0.27
IGL03225:Nup214	APN	2	32034411	missense	probably damaging	1.00
IGL03375:Nup214	APN	2	32010221	missense	probably damaging	0.97
Des_moines	UTSW	2	31980584	splice site	probably null
ANU74:Nup214	UTSW	2	32034966	missense	probably damaging	0.99
R0035:Nup214	UTSW	2	31990367	splice site	probably null
R0243:Nup214	UTSW	2	31998057	splice site	probably benign
R0270:Nup214	UTSW	2	32034814	missense	probably damaging	0.96
R0358:Nup214	UTSW	2	32004300	splice site	probably null
R1242:Nup214	UTSW	2	31977770	missense	probably benign	0.00
R1481:Nup214	UTSW	2	32034466	missense	probably damaging	1.00
R1482:Nup214	UTSW	2	32034466	missense	probably damaging	1.00
R1579:Nup214	UTSW	2	32034466	missense	probably damaging	1.00
R1580:Nup214	UTSW	2	32034466	missense	probably damaging	1.00
R1581:Nup214	UTSW	2	32034466	missense	probably damaging	1.00
R1610:Nup214	UTSW	2	32034466	missense	probably damaging	1.00
R1894:Nup214	UTSW	2	31996380	missense	possibly damaging	0.66
R2146:Nup214	UTSW	2	32034466	missense	probably damaging	1.00
R2149:Nup214	UTSW	2	32034466	missense	probably damaging	1.00
R2293:Nup214	UTSW	2	32026875	missense	probably benign
R2924:Nup214	UTSW	2	31998003	missense	probably damaging	1.00
R2925:Nup214	UTSW	2	31998003	missense	probably damaging	1.00
R3037:Nup214	UTSW	2	31976620	missense	probably benign	0.00
R3426:Nup214	UTSW	2	32033403	missense	probably damaging	0.97
R3799:Nup214	UTSW	2	32034682	missense	probably damaging	1.00
R3843:Nup214	UTSW	2	32051100	missense	probably damaging	1.00
R4323:Nup214	UTSW	2	31994684	missense	probably benign
R4353:Nup214	UTSW	2	31977917	critical splice donor site	probably null
R4601:Nup214	UTSW	2	31997965	missense	probably benign	0.36
R4626:Nup214	UTSW	2	32033404	missense	possibly damaging	0.92
R4874:Nup214	UTSW	2	31980584	splice site	probably null
R4938:Nup214	UTSW	2	31983159	missense	probably benign	0.00
R4939:Nup214	UTSW	2	31983159	missense	probably benign	0.00
R5027:Nup214	UTSW	2	31991317	missense	probably damaging	1.00
R5358:Nup214	UTSW	2	32017146	missense	unknown
R5406:Nup214	UTSW	2	32002607	missense	probably damaging	0.96
R5507:Nup214	UTSW	2	31988176	missense	possibly damaging	0.87
R5695:Nup214	UTSW	2	32034373	missense	probably damaging	1.00
R5744:Nup214	UTSW	2	32010296	missense	probably damaging	0.97
R5908:Nup214	UTSW	2	31991341	missense	probably benign	0.03
R5967:Nup214	UTSW	2	31979778	missense	possibly damaging	0.52
R6140:Nup214	UTSW	2	32051796	missense	possibly damaging	0.92
R6243:Nup214	UTSW	2	32002932	missense	possibly damaging	0.81
R6488:Nup214	UTSW	2	31991372	missense	possibly damaging	0.93
R6934:Nup214	UTSW	2	31982671	nonsense	probably null
R6970:Nup214	UTSW	2	32051798	missense	probably damaging	1.00
R7028:Nup214	UTSW	2	32034156	missense	probably benign	0.22
R7114:Nup214	UTSW	2	32025244	missense	possibly damaging	0.83
R7120:Nup214	UTSW	2	32051042	missense	probably benign	0.07
R7249:Nup214	UTSW	2	31988233	missense	possibly damaging	0.92
R7821:Nup214	UTSW	2	32026905	missense	possibly damaging	0.83
R8026:Nup214	UTSW	2	32033350	missense	possibly damaging	0.55
R8264:Nup214	UTSW	2	31994726	missense	possibly damaging	0.79
R8284:Nup214	UTSW	2	31996446	missense	possibly damaging	0.83
R8356:Nup214	UTSW	2	32039360	missense	probably benign	0.05
R8397:Nup214	UTSW	2	31990254	missense	probably damaging	0.96
R8456:Nup214	UTSW	2	32039360	missense	probably benign	0.05
R8785:Nup214	UTSW	2	32034453	missense	probably damaging	0.97
R9257:Nup214	UTSW	2	32033335	missense	possibly damaging	0.92
R9291:Nup214	UTSW	2	31977794	missense	probably benign	0.00
R9376:Nup214	UTSW	2	32034232	missense	probably benign	0.00
R9408:Nup214	UTSW	2	32047511	missense	probably damaging	1.00
R9613:Nup214	UTSW	2	32011023	missense	possibly damaging	0.90
R9789:Nup214	UTSW	2	32017215	missense	possibly damaging	0.46
RF015:Nup214	UTSW	2	32034706	missense	probably benign	0.00
X0026:Nup214	UTSW	2	32020306	missense	possibly damaging	0.46
X0065:Nup214	UTSW	2	32042476	missense	probably damaging	1.00
Z1088:Nup214	UTSW	2	32011223	missense	probably benign	0.27
Z1176:Nup214	UTSW	2	32010258	missense	possibly damaging	0.66
Z1176:Nup214	UTSW	2	32034225	nonsense	probably null
Z1177:Nup214	UTSW	2	31997959	missense	possibly damaging	0.83

Predicted Primers

Posted On

2014-01-15