Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01976:Nup210'

182685

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 #

IGL01976

Quality Score

Status

Chromosome

Chromosomal Location

91013068-91116829 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91053614 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 108 (V108A)

Ref Sequence

ENSEMBL: ENSMUSP00000120098 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032179
AA Change: V895A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032179
Gene: ENSMUSG00000030091
AA Change: V895A

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: V851A

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109137
Gene: ENSMUSG00000030091
AA Change: V851A

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: ENSMUST00000139051

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142951
AA Change: V108A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120098
Gene: ENSMUSG00000030091
AA Change: V108A

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	T	C	6: 85,622,665	V1960A	possibly damaging	Het
Asph	A	T	4: 9,475,471	N537K	probably damaging	Het
Bnip2	T	C	9: 70,000,834		probably benign	Het
Cc2d2a	C	A	5: 43,683,115	Q104K	probably benign	Het
Cd300ld	A	G	11: 114,987,444	S81P	probably damaging	Het
Clec4a1	T	C	6: 122,928,074		probably benign	Het
Dnajb8	T	C	6: 88,222,526	S15P	probably damaging	Het
Erp27	C	A	6: 136,919,989	V72L	probably damaging	Het
Gm13103	A	G	4: 143,852,793	N316S	probably benign	Het
Gpr156	A	G	16: 37,979,033	T131A	probably damaging	Het
Grk1	T	C	8: 13,415,993	V479A	probably damaging	Het
Hist1h2ba	T	A	13: 23,933,999	D53V	possibly damaging	Het
Hspg2	A	G	4: 137,561,926	D3784G	probably damaging	Het
Irf2	A	T	8: 46,807,225	K26M	probably damaging	Het
Irx6	C	A	8: 92,676,089	C27*	probably null	Het
Izumo1r	C	T	9: 14,901,679	C99Y	probably damaging	Het
Klrb1a	T	A	6: 128,618,109	T132S	probably benign	Het
Mmp13	C	T	9: 7,278,974		probably benign	Het
Myo5b	G	A	18: 74,698,277	R766Q	probably damaging	Het
Myt1	T	C	2: 181,795,739	L81P	probably damaging	Het
Nfat5	G	A	8: 107,367,559	V793I	probably damaging	Het
Olfr32	A	G	2: 90,138,924	S72P	probably damaging	Het
Omd	T	A	13: 49,589,643	Y56*	probably null	Het
Psmd9	A	G	5: 123,234,634	E60G	probably damaging	Het
Rab11fip1	T	C	8: 27,152,797	E658G	possibly damaging	Het
Smchd1	T	A	17: 71,394,725	K1091*	probably null	Het
Supt16	A	T	14: 52,182,307	N111K	possibly damaging	Het
Trrap	A	G	5: 144,856,989	T3666A	probably benign	Het
Ttn	T	C	2: 76,785,751	D8289G	probably damaging	Het
Ush2a	T	A	1: 188,911,241	S4267T	probably benign	Het
Usp50	T	A	2: 126,709,466	E31V	probably benign	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
IGL01621:Nup210	APN	6	91030117	missense	probably damaging	1.00
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

2014-05-07