Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00676:Nup133'

13654

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 #

IGL00676

Quality Score

Status

Chromosome

Chromosomal Location

124623862-124676004 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to G at 124633037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118564 (fasta)

Gene Model

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

AlphaFold

Q8R0G9

Predicted Effect

probably benign
Transcript: ENSMUST00000044795

SMART Domains

Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509

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

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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bub1b	A	G	2: 118,460,619 (GRCm39)	H650R	probably benign	Het
Gpcpd1	G	A	2: 132,395,931 (GRCm39)	S140F	probably damaging	Het
Isl1	T	C	13: 116,439,589 (GRCm39)	D253G	probably benign	Het
Mt4	A	G	8: 94,863,904 (GRCm39)		probably null	Het
Naip2	T	C	13: 100,289,140 (GRCm39)	N1197D	probably damaging	Het
Nfu1	C	A	6: 86,992,581 (GRCm39)	P65Q	probably damaging	Het
Slc4a10	G	T	2: 62,120,345 (GRCm39)	C824F	probably damaging	Het
Snapc1	A	T	12: 74,018,687 (GRCm39)	D39V	probably damaging	Het
Tnfsf14	T	C	17: 57,499,562 (GRCm39)	T97A	possibly damaging	Het
Ythdc1	T	A	5: 86,979,670 (GRCm39)	V588D	probably damaging	Het
Zfp292	A	C	4: 34,807,827 (GRCm39)	I1739S	probably damaging	Het
Zfp882	A	G	8: 72,667,671 (GRCm39)	E166G	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
IGL00966:Nup133	APN	8	124,638,645 (GRCm39)	missense	probably damaging	0.98
IGL01069:Nup133	APN	8	124,657,721 (GRCm39)	nonsense	probably null
IGL01553:Nup133	APN	8	124,642,063 (GRCm39)	missense	possibly damaging	0.58
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

2012-12-06