Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01621:Nup210'

92591

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup210

Ensembl Gene

ENSMUSG00000030091

Gene Name

nucleoporin 210

Synonyms

gp190, Pom210, gp210

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

91013068-91116829 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 91030117 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 572 (F572L)

Ref Sequence

ENSEMBL: ENSMUSP00000120098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032179] [ENSMUST00000113509] [ENSMUST00000142951]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032179
AA Change: F1359L

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032179
Gene: ENSMUSG00000030091
AA Change: F1359L

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Blast:BID_2	450	527	3e-29	BLAST
low complexity region	850	862	N/A	INTRINSIC
Blast:S1	937	1022	6e-37	BLAST
BID_2	1077	1152	8.36e-6	SMART
low complexity region	1159	1168	N/A	INTRINSIC
Blast:BID_2	1468	1551	3e-35	BLAST
transmembrane domain	1809	1831	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113509
AA Change: F1315L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109137
Gene: ENSMUSG00000030091
AA Change: F1315L

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Blast:BID_2	450	527	4e-29	BLAST
low complexity region	806	818	N/A	INTRINSIC
Blast:S1	893	978	4e-37	BLAST
BID_2	1033	1108	8.36e-6	SMART
low complexity region	1115	1124	N/A	INTRINSIC
Blast:BID_2	1424	1507	3e-35	BLAST
transmembrane domain	1765	1787	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141952

Predicted Effect

probably damaging
Transcript: ENSMUST00000142951
AA Change: F572L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120098
Gene: ENSMUSG00000030091
AA Change: F572L

Domain	Start	End	E-Value	Type
low complexity region	63	75	N/A	INTRINSIC
Blast:S1	150	235	3e-37	BLAST
BID_2	290	365	8.36e-6	SMART
low complexity region	372	381	N/A	INTRINSIC
Blast:BID_2	681	764	1e-35	BLAST
transmembrane domain	1022	1044	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153350

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. The protein encoded by this gene is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex. Multiple pseudogenes related to this gene are located on chromosome 3. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 63,898,383	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 90,064,502	M56K	possibly damaging	Het
5730559C18Rik	C	A	1: 136,219,775	A402S	probably damaging	Het
A730017C20Rik	A	G	18: 59,062,386	M1V	probably null	Het
Abca6	A	G	11: 110,184,708	L1319S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aloxe3	A	G	11: 69,130,013	N188S	probably benign	Het
Ap1s1	G	A	5: 137,041,804	R119*	probably null	Het
Apc2	T	G	10: 80,306,201	L318R	probably damaging	Het
Atg101	A	G	15: 101,287,095	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,015,868		probably benign	Het
Bpifb9b	C	A	2: 154,316,951		probably null	Het
Braf	A	T	6: 39,646,853		probably benign	Het
Cabp5	A	G	7: 13,401,264	D43G	probably damaging	Het
Cfap46	T	C	7: 139,606,607	N2462S	unknown	Het
Cit	C	T	5: 115,992,603		probably benign	Het
Cpa4	T	C	6: 30,574,416	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,629,554	I474V	probably benign	Het
Dennd1a	C	A	2: 37,844,809	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,148,221	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,680,840	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897		probably null	Het
E2f6	A	G	12: 16,825,368	D268G	probably benign	Het
Evi2b	T	A	11: 79,516,300	T150S	probably damaging	Het
F13b	A	G	1: 139,503,851	D53G	probably benign	Het
Fbxo38	G	A	18: 62,522,524		probably benign	Het
Flnb	C	T	14: 7,950,470	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Gm13023	T	C	4: 143,793,932	F85L	probably benign	Het
Gm21759	A	G	5: 8,179,775		probably benign	Het
Gtse1	A	G	15: 85,875,082	N597S	probably benign	Het
Hcn3	G	T	3: 89,147,723	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,299,992	N107I	probably damaging	Het
Iqub	T	C	6: 24,446,212	K738E	probably benign	Het
Itga6	A	T	2: 71,825,656	D308V	probably benign	Het
Klf12	T	C	14: 100,023,149	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,358,816	*351Q	probably null	Het
Krt40	A	T	11: 99,542,868	N97K	probably damaging	Het
Lrit1	A	C	14: 37,060,155	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,510,910	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 132,054,143	S149P	probably benign	Het
Mipep	A	G	14: 60,796,165		probably benign	Het
Mslnl	A	G	17: 25,743,667		probably benign	Het
N4bp2	A	T	5: 65,790,924	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221	P190S	probably benign	Het
Nos1	T	A	5: 117,945,884	I1253N	probably damaging	Het
Olfr1381	T	C	11: 49,552,137	L130P	probably damaging	Het
Olfr370	T	C	8: 83,541,618	V158A	probably benign	Het
Olfr390	T	C	11: 73,787,277	F113S	probably damaging	Het
P4htm	T	A	9: 108,583,736	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,504,807	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,685,422	E240G	probably benign	Het
Pex5l	T	C	3: 33,014,961		probably null	Het
Plcd1	T	C	9: 119,076,178	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,372,099	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,835,092	Q386L	possibly damaging	Het
Prpf40b	A	G	15: 99,310,045		probably benign	Het
Rdh11	C	T	12: 79,186,413		probably null	Het
Ripor3	A	T	2: 167,997,252	S110T	probably damaging	Het
Sec24d	G	A	3: 123,294,158		probably null	Het
Secisbp2l	T	C	2: 125,773,211	S165G	probably benign	Het
Shank1	C	T	7: 44,342,465	A698V	unknown	Het
Shank1	T	C	7: 44,351,599	M914T	unknown	Het
Slc22a3	T	C	17: 12,458,492	Q263R	probably benign	Het
Smc1a	C	A	X: 152,036,129	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,846,861		probably benign	Het
Tacc2	C	A	7: 130,729,768	T484K	probably damaging	Het
Ubr4	G	T	4: 139,440,783	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,308,605	M163I	probably benign	Het
Zfp69	T	A	4: 120,931,500	K206M	probably damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	probably damaging	Het

Other mutations in Nup210

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Nup210	APN	6	91030097	missense	possibly damaging	0.92
IGL01532:Nup210	APN	6	91085999	splice site	probably benign
IGL01574:Nup210	APN	6	91040564	missense	probably benign	0.35
IGL01976:Nup210	APN	6	91053614	missense	possibly damaging	0.89
IGL02089:Nup210	APN	6	91076698	missense	probably benign	0.04
IGL02291:Nup210	APN	6	91101268	missense	probably damaging	1.00
IGL03013:Nup210	APN	6	91053379	missense	probably benign	0.00
IGL03046:Nup210	APN	6	91018996	splice site	probably benign
IGL03136:Nup210	APN	6	91028861	missense	probably benign	0.32
IGL03139:Nup210	APN	6	91020239	missense	probably benign	0.08
IGL03195:Nup210	APN	6	91015850	missense	probably benign	0.32
IGL03344:Nup210	APN	6	91021429	missense	possibly damaging	0.53
brotherhood	UTSW	6	91036469	missense	possibly damaging	0.81
equality	UTSW	6	91021395	critical splice donor site	probably null
Liberty	UTSW	6	91020180	missense	probably benign	0.04
unity	UTSW	6	91031668	nonsense	probably null
IGL03134:Nup210	UTSW	6	91030190	missense	probably damaging	0.99
PIT4810001:Nup210	UTSW	6	91030124	missense	probably damaging	1.00
R0100:Nup210	UTSW	6	91069193	missense	probably benign	0.04
R0348:Nup210	UTSW	6	91074310	missense	probably benign	0.27
R0385:Nup210	UTSW	6	91028795	missense	possibly damaging	0.77
R0551:Nup210	UTSW	6	91021484	missense	possibly damaging	0.85
R0606:Nup210	UTSW	6	91026929	missense	possibly damaging	0.89
R1053:Nup210	UTSW	6	91028811	missense	probably benign	0.41
R1301:Nup210	UTSW	6	91042347	missense	possibly damaging	0.47
R1381:Nup210	UTSW	6	91075960	missense	probably damaging	0.99
R1464:Nup210	UTSW	6	91053569	missense	possibly damaging	0.82
R1464:Nup210	UTSW	6	91053569	missense	possibly damaging	0.82
R1487:Nup210	UTSW	6	91042576	missense	probably damaging	1.00
R1522:Nup210	UTSW	6	91069166	missense	possibly damaging	0.85
R1529:Nup210	UTSW	6	91036376	missense	probably damaging	1.00
R1531:Nup210	UTSW	6	91034841	missense	probably benign	0.05
R1668:Nup210	UTSW	6	91028805	missense	possibly damaging	0.89
R1694:Nup210	UTSW	6	91062803	missense	probably benign	0.09
R1803:Nup210	UTSW	6	91074282	missense	probably damaging	0.99
R1851:Nup210	UTSW	6	91016054	missense	probably damaging	1.00
R2145:Nup210	UTSW	6	91028876	missense	possibly damaging	0.81
R2196:Nup210	UTSW	6	91055244	missense	probably benign	0.02
R2308:Nup210	UTSW	6	91040868	missense	probably benign	0.19
R2419:Nup210	UTSW	6	91017556	splice site	probably benign
R2912:Nup210	UTSW	6	91026974	missense	probably damaging	1.00
R3413:Nup210	UTSW	6	91025242	missense	probably benign	0.00
R3718:Nup210	UTSW	6	91020180	missense	probably benign	0.04
R3753:Nup210	UTSW	6	91021395	critical splice donor site	probably null
R4058:Nup210	UTSW	6	91060620	missense	probably benign	0.02
R4840:Nup210	UTSW	6	91031668	nonsense	probably null
R4912:Nup210	UTSW	6	91017529	missense	probably benign	0.01
R4967:Nup210	UTSW	6	91036469	missense	possibly damaging	0.81
R4996:Nup210	UTSW	6	91053436	missense	probably benign	0.16
R5074:Nup210	UTSW	6	91055327	missense	probably benign	0.16
R5233:Nup210	UTSW	6	91026969	missense	probably damaging	1.00
R5352:Nup210	UTSW	6	91069316	missense	probably damaging	1.00
R5490:Nup210	UTSW	6	91085988	missense	probably damaging	0.98
R5511:Nup210	UTSW	6	91026963	missense	probably damaging	0.97
R5773:Nup210	UTSW	6	91085883	missense	probably damaging	0.96
R6064:Nup210	UTSW	6	91055291	missense	probably benign	0.01
R6209:Nup210	UTSW	6	91025355	missense	probably benign
R6299:Nup210	UTSW	6	91074288	missense	possibly damaging	0.68
R6705:Nup210	UTSW	6	91087960	missense	possibly damaging	0.50
R6855:Nup210	UTSW	6	91040853	missense	probably benign	0.13
R6856:Nup210	UTSW	6	91087913	nonsense	probably null
R6911:Nup210	UTSW	6	91030130	missense	probably damaging	0.98
R6955:Nup210	UTSW	6	91087927	missense	probably damaging	1.00
R7045:Nup210	UTSW	6	91054451	missense	probably damaging	1.00
R7081:Nup210	UTSW	6	91060665	missense	possibly damaging	0.50
R7163:Nup210	UTSW	6	91073331	missense	probably damaging	1.00
R7305:Nup210	UTSW	6	91087966	missense	probably damaging	1.00
R7387:Nup210	UTSW	6	91021396	critical splice donor site	probably null
R7404:Nup210	UTSW	6	91073245	missense	probably benign	0.01
R7469:Nup210	UTSW	6	91018892	missense	probably benign	0.08
R7603:Nup210	UTSW	6	91076697	missense	probably benign	0.00
R7731:Nup210	UTSW	6	91071888	missense	possibly damaging	0.50
R7822:Nup210	UTSW	6	91018777	missense	possibly damaging	0.71
R7944:Nup210	UTSW	6	91073197	missense	probably damaging	0.99
R8032:Nup210	UTSW	6	91074349	missense	probably benign	0.02
R8039:Nup210	UTSW	6	91070233	missense	probably benign	0.09
R8081:Nup210	UTSW	6	91076675	missense	probably benign	0.00
R8177:Nup210	UTSW	6	91014488	missense	probably benign
R8331:Nup210	UTSW	6	91053666	missense	possibly damaging	0.49
X0067:Nup210	UTSW	6	91074280	missense	probably damaging	1.00
Z1177:Nup210	UTSW	6	91020185	missense	probably benign
Z1177:Nup210	UTSW	6	91087907	missense	possibly damaging	0.91

Posted On

2013-12-09