Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Nup133'

8077

Institutional Source

Beutler Lab

Gene Symbol

Nup133

Ensembl Gene

ENSMUSG00000039509

Gene Name

nucleoporin 133

Synonyms

4832420O05Rik, mermaid

MMRRC Submission

038305-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

124623862-124676004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124631318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1072 (I1072N)

Ref Sequence

ENSEMBL: ENSMUSP00000048084 (fasta)

Gene Model

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

AlphaFold

Q8R0G9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044795
AA Change: I1072N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: I1072N

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: ENSMUST00000212751

Meta Mutation Damage Score

0.9227

Coding Region Coverage

1x: 79.6%
3x: 70.9%
10x: 47.0%
20x: 26.4%

Validation Efficiency

91% (78/86)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	T	5: 81,940,250 (GRCm39)	A1320V	possibly damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,942,143 (GRCm39)	H124L	probably benign	Het
Cdk5rap2	T	C	4: 70,161,696 (GRCm39)	E270G	probably benign	Het
Cldnd1	T	A	16: 58,551,622 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,803,997 (GRCm39)	L1112P	probably benign	Het
Evc2	T	A	5: 37,574,793 (GRCm39)	L1016Q	probably damaging	Het
Fam135b	T	C	15: 71,493,881 (GRCm39)	K16R	probably damaging	Het
Frem1	T	C	4: 82,918,335 (GRCm39)	I536V	probably benign	Het
Ginm1	T	C	10: 7,651,138 (GRCm39)		probably benign	Het
Glrb	A	T	3: 80,767,622 (GRCm39)		probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10320	T	C	13: 98,626,054 (GRCm39)	Y110C	probably damaging	Het
Intu	T	C	3: 40,608,702 (GRCm39)		probably benign	Het
Ltbp1	A	G	17: 75,670,386 (GRCm39)	T1476A	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Mitf	A	G	6: 97,784,242 (GRCm39)	K33R	probably benign	Het
Nlgn1	G	T	3: 25,490,006 (GRCm39)		probably benign	Het
Rock1	T	A	18: 10,084,380 (GRCm39)	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,643,774 (GRCm39)	E55D	probably damaging	Het
Scn8a	T	C	15: 100,911,454 (GRCm39)	V958A	probably damaging	Het
Sgk1	G	A	10: 21,873,337 (GRCm39)		probably null	Het
Shprh	C	T	10: 11,027,675 (GRCm39)	T94I	probably benign	Het
Smg1	A	T	7: 117,771,082 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,045,509 (GRCm39)	V1556I	probably benign	Het
Trappc14	T	C	5: 138,258,555 (GRCm39)		probably null	Het
Trappc4	G	A	9: 44,316,528 (GRCm39)		probably benign	Het
Txlna	T	G	4: 129,522,879 (GRCm39)	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,978,502 (GRCm39)	F51S	possibly damaging	Het
Wdfy3	T	C	5: 101,996,215 (GRCm39)	T3234A	probably damaging	Het
Zbtb41	T	G	1: 139,351,268 (GRCm39)	V127G	probably damaging	Het
Zfp608	A	T	18: 55,028,286 (GRCm39)		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
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
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

2012-11-20