Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01553:Nup133'

90642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup133

Ensembl Gene

ENSMUSG00000039509

Gene Name

nucleoporin 133

Synonyms

4832420O05Rik, mermaid

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01553

Quality Score

Status

Chromosome

Chromosomal Location

124623862-124676004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124642063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 800 (V800A)

Ref Sequence

ENSEMBL: ENSMUSP00000048084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000127664]

AlphaFold

Q8R0G9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044795
AA Change: V800A

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: V800A

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
PDB:1XKS\|A	66	513	N/A	PDB
Pfam:Nucleoporin_C	593	1052	1.2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213089

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 envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality prior to E10.5, abnormal somitogenesis, pericardial edema, growth retardation, and abnormal neural development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c13	T	A	13: 4,244,774 (GRCm39)	H117Q	probably damaging	Het
Arhgap44	T	C	11: 64,943,944 (GRCm39)	N188S	probably damaging	Het
Bach1	T	A	16: 87,519,393 (GRCm39)	I561N	probably damaging	Het
Bsph2	G	T	7: 13,290,645 (GRCm39)	T78K	probably damaging	Het
Ccdc178	A	G	18: 22,048,063 (GRCm39)	Y776H	probably damaging	Het
Ccdc7a	T	C	8: 129,753,072 (GRCm39)		probably benign	Het
Cenpp	C	T	13: 49,618,252 (GRCm39)	V218M	probably damaging	Het
Dnmt3l	A	G	10: 77,899,082 (GRCm39)	S94G	probably benign	Het
Dock7	A	T	4: 98,833,803 (GRCm39)	Y1839*	probably null	Het
Gabra6	T	A	11: 42,206,023 (GRCm39)	T278S	probably damaging	Het
Galnt11	G	A	5: 25,452,718 (GRCm39)	D77N	probably benign	Het
Gm17175	T	C	14: 51,808,279 (GRCm39)	D171G	probably benign	Het
Iqch	T	C	9: 63,408,199 (GRCm39)	N655S	probably benign	Het
Kdm1b	T	A	13: 47,234,024 (GRCm39)	I786N	probably damaging	Het
Macf1	G	A	4: 123,386,956 (GRCm39)	Q976*	probably null	Het
Mbtd1	T	A	11: 93,814,040 (GRCm39)	C228S	probably benign	Het
Myo10	T	C	15: 25,776,415 (GRCm39)	L46P	probably damaging	Het
Niban3	G	T	8: 72,055,546 (GRCm39)	A319S	possibly damaging	Het
Or5h23	G	T	16: 58,906,685 (GRCm39)	H54N	probably benign	Het
Prkca	C	T	11: 107,948,660 (GRCm39)	G110R	probably benign	Het
Samd9l	A	T	6: 3,375,566 (GRCm39)	M565K	probably damaging	Het
Scgn	T	C	13: 24,143,662 (GRCm39)	Q77R	probably benign	Het
Serpinb6b	T	C	13: 33,158,931 (GRCm39)	L44P	probably damaging	Het
Tfrc	T	C	16: 32,447,403 (GRCm39)	V673A	probably benign	Het
Tsfm	G	A	10: 126,864,259 (GRCm39)	T152M	probably benign	Het
Wdfy3	A	T	5: 102,047,897 (GRCm39)	C1803S	probably benign	Het

Other mutations in Nup133

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Nup133	APN	8	124,665,822 (GRCm39)	missense	probably damaging	0.98
IGL00507:Nup133	APN	8	124,645,706 (GRCm39)	nonsense	probably null
IGL00585:Nup133	APN	8	124,636,733 (GRCm39)	missense	probably damaging	1.00
IGL00676:Nup133	APN	8	124,633,037 (GRCm39)	intron	probably benign
IGL00966:Nup133	APN	8	124,638,645 (GRCm39)	missense	probably damaging	0.98
IGL01069:Nup133	APN	8	124,657,721 (GRCm39)	nonsense	probably null
IGL01669:Nup133	APN	8	124,665,869 (GRCm39)	nonsense	probably null
IGL01730:Nup133	APN	8	124,664,972 (GRCm39)	missense	probably benign	0.00
IGL01996:Nup133	APN	8	124,673,334 (GRCm39)	missense	probably benign	0.00
IGL02332:Nup133	APN	8	124,634,571 (GRCm39)	missense	probably damaging	1.00
IGL02552:Nup133	APN	8	124,655,994 (GRCm39)	missense	possibly damaging	0.75
IGL02956:Nup133	APN	8	124,675,822 (GRCm39)	missense	probably benign	0.00
IGL03009:Nup133	APN	8	124,660,239 (GRCm39)	missense	possibly damaging	0.46
IGL03036:Nup133	APN	8	124,673,333 (GRCm39)	missense	probably benign	0.11
Cadenza	UTSW	8	124,638,627 (GRCm39)	frame shift	probably null
Gangen	UTSW	8	124,643,021 (GRCm39)	critical splice donor site	probably null
hochzeit	UTSW	8	124,656,082 (GRCm39)	missense	probably benign	0.00
low_road	UTSW	8	124,631,318 (GRCm39)	missense	probably damaging	1.00
Pathway	UTSW	8	124,644,185 (GRCm39)	missense	possibly damaging	0.82
Slant	UTSW	8	124,643,020 (GRCm39)	splice site	probably null
R0010:Nup133	UTSW	8	124,631,318 (GRCm39)	missense	probably damaging	1.00
R0010:Nup133	UTSW	8	124,631,318 (GRCm39)	missense	probably damaging	1.00
R0139:Nup133	UTSW	8	124,656,082 (GRCm39)	missense	probably benign	0.00
R0344:Nup133	UTSW	8	124,644,185 (GRCm39)	missense	possibly damaging	0.82
R0730:Nup133	UTSW	8	124,675,747 (GRCm39)	missense	probably benign	0.00
R1301:Nup133	UTSW	8	124,644,156 (GRCm39)	intron	probably benign
R1453:Nup133	UTSW	8	124,642,114 (GRCm39)	missense	probably benign	0.00
R1570:Nup133	UTSW	8	124,675,915 (GRCm39)	start codon destroyed	possibly damaging	0.82
R1607:Nup133	UTSW	8	124,675,774 (GRCm39)	missense	probably benign	0.02
R1773:Nup133	UTSW	8	124,657,722 (GRCm39)	nonsense	probably null
R1992:Nup133	UTSW	8	124,632,960 (GRCm39)	missense	possibly damaging	0.80
R2062:Nup133	UTSW	8	124,641,314 (GRCm39)	missense	probably damaging	1.00
R2065:Nup133	UTSW	8	124,641,314 (GRCm39)	missense	probably damaging	1.00
R2066:Nup133	UTSW	8	124,641,314 (GRCm39)	missense	probably damaging	1.00
R2068:Nup133	UTSW	8	124,641,314 (GRCm39)	missense	probably damaging	1.00
R4397:Nup133	UTSW	8	124,671,040 (GRCm39)	missense	probably benign	0.04
R4683:Nup133	UTSW	8	124,657,721 (GRCm39)	nonsense	probably null
R4771:Nup133	UTSW	8	124,656,137 (GRCm39)	missense	probably damaging	1.00
R4910:Nup133	UTSW	8	124,653,870 (GRCm39)	missense	possibly damaging	0.91
R4911:Nup133	UTSW	8	124,653,870 (GRCm39)	missense	possibly damaging	0.91
R4968:Nup133	UTSW	8	124,641,935 (GRCm39)	missense	probably benign	0.07
R5411:Nup133	UTSW	8	124,653,945 (GRCm39)	missense	probably benign
R5470:Nup133	UTSW	8	124,657,705 (GRCm39)	missense	probably benign	0.00
R5664:Nup133	UTSW	8	124,633,020 (GRCm39)	missense	probably benign	0.01
R5907:Nup133	UTSW	8	124,643,038 (GRCm39)	missense	possibly damaging	0.90
R6003:Nup133	UTSW	8	124,665,031 (GRCm39)	missense	probably damaging	0.98
R6059:Nup133	UTSW	8	124,641,335 (GRCm39)	missense	probably damaging	1.00
R6219:Nup133	UTSW	8	124,663,612 (GRCm39)	missense	possibly damaging	0.90
R6292:Nup133	UTSW	8	124,644,176 (GRCm39)	missense	probably benign	0.01
R6672:Nup133	UTSW	8	124,643,020 (GRCm39)	splice site	probably null
R6737:Nup133	UTSW	8	124,633,030 (GRCm39)	missense	probably damaging	0.99
R6763:Nup133	UTSW	8	124,671,017 (GRCm39)	missense	possibly damaging	0.95
R6870:Nup133	UTSW	8	124,626,246 (GRCm39)	missense	probably benign	0.08
R6975:Nup133	UTSW	8	124,642,057 (GRCm39)	missense	probably damaging	0.99
R7101:Nup133	UTSW	8	124,632,966 (GRCm39)	missense	possibly damaging	0.89
R7114:Nup133	UTSW	8	124,642,112 (GRCm39)	missense	probably benign	0.00
R7271:Nup133	UTSW	8	124,649,153 (GRCm39)	missense	probably benign	0.34
R7501:Nup133	UTSW	8	124,649,153 (GRCm39)	missense	probably benign	0.34
R8054:Nup133	UTSW	8	124,675,956 (GRCm39)	intron	probably benign
R8397:Nup133	UTSW	8	124,649,156 (GRCm39)	missense	probably benign	0.17
R8703:Nup133	UTSW	8	124,643,021 (GRCm39)	critical splice donor site	probably null
R8811:Nup133	UTSW	8	124,638,627 (GRCm39)	frame shift	probably null
R8813:Nup133	UTSW	8	124,638,627 (GRCm39)	frame shift	probably null
R8952:Nup133	UTSW	8	124,634,500 (GRCm39)	missense	probably damaging	1.00
R9116:Nup133	UTSW	8	124,660,155 (GRCm39)	missense	probably benign	0.00
R9340:Nup133	UTSW	8	124,664,881 (GRCm39)	missense	probably benign	0.38
X0023:Nup133	UTSW	8	124,636,727 (GRCm39)	missense	probably benign

Posted On

2013-12-09