Mutagenetix > Incidental Mutation

Incidental Mutation 'R5507:Nup214'

430957

Institutional Source

Beutler Lab

Gene Symbol

Nup214

Ensembl Gene

ENSMUSG00000001855

Gene Name

nucleoporin 214

Synonyms

CAN, D2H9S46E

MMRRC Submission

043068-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5507 (G1)

Quality Score

101

Status

Validated

Chromosome

Chromosomal Location

31864446-31943204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31878188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 285 (E285G)

Ref Sequence

ENSEMBL: ENSMUSP00000066492 (fasta)

Gene Model

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

AlphaFold

Q80U93

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065398
AA Change: E285G

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066492
Gene: ENSMUSG00000001855
AA Change: E285G

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: ENSMUST00000121807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129496

Meta Mutation Damage Score

0.1272

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.2%

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 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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,451,084 (GRCm39)	T97A	probably damaging	Het
1700017N19Rik	T	C	10: 100,445,095 (GRCm39)	S27P	probably benign	Het
Acoxl	C	A	2: 127,726,394 (GRCm39)	A256E	probably damaging	Het
Akap9	A	G	5: 4,018,683 (GRCm39)	E1088G	probably benign	Het
Alox12	T	C	11: 70,145,238 (GRCm39)	T112A	possibly damaging	Het
Ampd2	A	G	3: 107,984,929 (GRCm39)	V379A	probably damaging	Het
Ap4e1	C	A	2: 126,850,818 (GRCm39)	H49N	probably damaging	Het
Arhgap11a	T	C	2: 113,672,023 (GRCm39)	T260A	probably benign	Het
Atg2a	T	C	19: 6,295,100 (GRCm39)	F171S	possibly damaging	Het
Bpifb9b	A	T	2: 154,158,947 (GRCm39)	Y488F	possibly damaging	Het
C2cd2	T	C	16: 97,682,820 (GRCm39)	T139A	probably benign	Het
Cct8l1	A	T	5: 25,721,377 (GRCm39)	T31S	probably benign	Het
Cdhr1	A	T	14: 36,804,802 (GRCm39)	N469K	probably damaging	Het
Chga	T	C	12: 102,528,868 (GRCm39)	S282P	probably benign	Het
Chrnb4	T	G	9: 54,942,296 (GRCm39)	H326P	probably damaging	Het
Cntnap1	A	G	11: 101,074,303 (GRCm39)	T748A	probably benign	Het
Cpsf3	T	A	12: 21,347,929 (GRCm39)	L250H	probably damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dppa5a	T	A	9: 78,275,353 (GRCm39)	D10V	possibly damaging	Het
Dsc2	G	A	18: 20,179,336 (GRCm39)	T244I	probably damaging	Het
Elavl4	T	C	4: 110,070,403 (GRCm39)	T144A	probably benign	Het
Ephb1	C	T	9: 101,813,315 (GRCm39)	V776M	probably damaging	Het
Fcrl1	C	T	3: 87,298,549 (GRCm39)	S348F	probably benign	Het
Fga	T	A	3: 82,940,643 (GRCm39)	W766R	probably damaging	Het
Galnt14	A	G	17: 73,802,661 (GRCm39)	V477A	probably damaging	Het
Gcdh	A	G	8: 85,619,486 (GRCm39)	L103P	probably damaging	Het
Gm27013	G	A	6: 130,652,942 (GRCm39)	T840I	probably damaging	Het
Gpr179	A	T	11: 97,229,156 (GRCm39)	W1000R	probably damaging	Het
Hectd4	C	T	5: 121,419,164 (GRCm39)	A581V	unknown	Het
Ints12	T	A	3: 132,814,921 (GRCm39)	V376E	probably damaging	Het
Krt77	T	C	15: 101,769,665 (GRCm39)	I402V	probably benign	Het
Marchf1	T	C	8: 66,871,542 (GRCm39)	V102A	probably damaging	Het
Meis1	A	T	11: 18,966,168 (GRCm39)	N68K	probably benign	Het
Mthfd1l	A	G	10: 4,056,432 (GRCm39)	E916G	probably benign	Het
Muc5ac	T	C	7: 141,361,569 (GRCm39)	F1627L	possibly damaging	Het
Myef2	A	T	2: 124,958,623 (GRCm39)	M102K	probably benign	Het
Naip6	A	C	13: 100,435,423 (GRCm39)	H1033Q	probably benign	Het
Nid1	T	A	13: 13,663,622 (GRCm39)	C760*	probably null	Het
Nt5dc1	A	T	10: 34,273,226 (GRCm39)	C191S	probably benign	Het
Nvl	A	G	1: 180,962,601 (GRCm39)	L123P	probably damaging	Het
Or5t9	T	A	2: 86,659,661 (GRCm39)	H188Q	probably damaging	Het
Otog	A	G	7: 45,911,123 (GRCm39)	E658G	probably damaging	Het
Pam16	G	T	16: 4,435,880 (GRCm39)		probably benign	Het
Psg17	T	C	7: 18,553,851 (GRCm39)	D133G	probably benign	Het
Rabgap1l	A	G	1: 160,178,898 (GRCm39)	S21P	possibly damaging	Het
Rgs22	T	A	15: 36,099,798 (GRCm39)	M306L	probably damaging	Het
Ruvbl1	A	G	6: 88,444,582 (GRCm39)	K59R	probably benign	Het
Samd9l	T	C	6: 3,373,898 (GRCm39)	E1121G	possibly damaging	Het
Serpinb13	A	G	1: 106,926,332 (GRCm39)	N169S	probably benign	Het
Setbp1	T	A	18: 79,129,927 (GRCm39)	T102S	probably damaging	Het
Syn3	A	T	10: 85,916,090 (GRCm39)	S299T	probably benign	Het
Taar7a	A	G	10: 23,868,529 (GRCm39)	L284P	probably damaging	Het
Tlr6	C	A	5: 65,110,749 (GRCm39)	Q719H	probably damaging	Het
Tmem131	T	A	1: 36,928,361 (GRCm39)	D76V	probably damaging	Het
Tradd	T	G	8: 105,986,257 (GRCm39)	D145A	possibly damaging	Het
Usp20	A	T	2: 30,900,238 (GRCm39)	M251L	probably benign	Het
Vmn2r96	T	A	17: 18,818,091 (GRCm39)	L556Q	probably damaging	Het
Xrcc2	A	G	5: 25,897,317 (GRCm39)	S211P	probably benign	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
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
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

PCR Primer
(F):5'- TGCACCTTCAGAGCTCATCC -3'
(R):5'- AAGTTGCCTCCCTAGCCAAAG -3'

Sequencing Primer
(F):5'- CAGAGCTCATCCCTATGTGTGTG -3'
(R):5'- ATCCACTCGTCACACTGAGGG -3'

Posted On

2016-10-05