Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00507:Nup133'

4953

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 #

IGL00507

Quality Score

Status

Chromosome

Chromosomal Location

124623862-124676004 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 124645706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 626 (Y626*)

Ref Sequence

ENSEMBL: ENSMUSP00000048084 (fasta)

Gene Model

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

AlphaFold

Q8R0G9

Predicted Effect

probably null
Transcript: ENSMUST00000044795
AA Change: Y626*

SMART Domains

Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: Y626*

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	C	T	9: 54,529,712 (GRCm39)		probably benign	Het
Adgrb3	T	A	1: 25,113,796 (GRCm39)	R1450S	possibly damaging	Het
Apc	A	G	18: 34,449,979 (GRCm39)	I2258V	probably benign	Het
Atxn2l	C	A	7: 126,095,756 (GRCm39)	A374S	possibly damaging	Het
Cacna1a	T	A	8: 85,297,837 (GRCm39)	Y1182*	probably null	Het
Cc2d1b	G	T	4: 108,486,927 (GRCm39)	A647S	probably damaging	Het
Csn2	A	G	5: 87,842,632 (GRCm39)	S116P	probably benign	Het
Eya4	G	A	10: 23,033,434 (GRCm39)	Q163*	probably null	Het
Fam47c	A	T	X: 77,781,931 (GRCm39)	D171V	probably benign	Het
Fhdc1	A	T	3: 84,356,107 (GRCm39)	C446S	probably damaging	Het
Fkbp9	T	A	6: 56,827,686 (GRCm39)	V169E	probably damaging	Het
Fras1	A	T	5: 96,926,048 (GRCm39)	I3751F	probably damaging	Het
Gkn1	T	C	6: 87,323,321 (GRCm39)	Y164C	probably damaging	Het
Hs3st5	T	C	10: 36,708,918 (GRCm39)	I151T	probably benign	Het
Ighv8-6	A	T	12: 115,129,472 (GRCm39)	S95T	probably damaging	Het
Loxhd1	A	G	18: 77,420,263 (GRCm39)	I296V	probably benign	Het
Lrrc66	T	C	5: 73,764,457 (GRCm39)	E862G	probably benign	Het
Ltbp3	T	C	19: 5,806,044 (GRCm39)	V934A	probably damaging	Het
Mpp3	A	T	11: 101,892,929 (GRCm39)	I501K	possibly damaging	Het
Mroh2b	C	T	15: 4,991,609 (GRCm39)	T1569I	probably damaging	Het
Pak3	T	A	X: 142,572,329 (GRCm39)	N477K	probably damaging	Het
Plod3	A	G	5: 137,025,030 (GRCm39)	H714R	possibly damaging	Het
Ppil1	T	C	17: 29,470,675 (GRCm39)	N102S	probably damaging	Het
Rapgef6	A	T	11: 54,554,935 (GRCm39)	R996*	probably null	Het
Scd3	G	A	19: 44,224,273 (GRCm39)	D169N	probably damaging	Het
Sgo2a	T	A	1: 58,055,753 (GRCm39)	F646I	probably damaging	Het
Slc5a8	A	G	10: 88,743,902 (GRCm39)	Y346C	possibly damaging	Het
Slc7a15	A	T	12: 8,585,474 (GRCm39)	V49E	probably damaging	Het
Stard8	G	A	X: 98,112,941 (GRCm39)	E649K	probably damaging	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
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
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

2012-04-20