Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02332:Nup133'

288745

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup133

Ensembl Gene

ENSMUSG00000039509

Gene Name

nucleoporin 133

Synonyms

mermaid, 4832420O05Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02332

Quality Score

Status

Chromosome

Chromosomal Location

123897123-123949265 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123907832 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1007 (L1007Q)

Ref Sequence

ENSEMBL: ENSMUSP00000048084 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000044795
AA Change: L1007Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: L1007Q

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: 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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B24Rik	A	G	3: 48,608,888		noncoding transcript	Het
Abca13	A	T	11: 9,291,482	Y1115F	probably damaging	Het
Adam29	T	A	8: 55,871,740	I560F	probably damaging	Het
Bivm	T	C	1: 44,128,720		probably benign	Het
Brinp1	C	A	4: 68,904,884	R24L	probably benign	Het
Cnga1	A	G	5: 72,604,486	Y562H	probably damaging	Het
Cr2	C	A	1: 195,160,322	Q256H	probably benign	Het
Dhcr7	A	T	7: 143,843,128	N119I	probably damaging	Het
Dio1	A	T	4: 107,293,781	Y169N	probably damaging	Het
Dmbt1	C	T	7: 131,066,613		probably benign	Het
Eogt	T	G	6: 97,125,605	H249P	probably damaging	Het
Ermard	A	C	17: 14,990,545		probably null	Het
Exoc4	T	C	6: 33,249,240		probably null	Het
Fxr2	G	T	11: 69,649,838		probably null	Het
Glyr1	G	T	16: 5,018,953	T443N	probably damaging	Het
Gm14137	T	G	2: 119,175,326	L122R	probably damaging	Het
Gm4845	C	A	1: 141,256,597		noncoding transcript	Het
Gm8258	A	G	5: 104,775,902		noncoding transcript	Het
Gmps	G	A	3: 63,990,569	R258H	probably benign	Het
Itga6	T	G	2: 71,838,373	L552R	possibly damaging	Het
Itgam	T	A	7: 128,085,674		probably null	Het
Itgb5	G	T	16: 33,920,130	E224*	probably null	Het
Itih4	C	A	14: 30,887,860	A49D	probably damaging	Het
Itpr2	A	T	6: 146,426,542	N64K	probably damaging	Het
Moap1	T	C	12: 102,742,807	Y161C	probably benign	Het
Mst1r	G	T	9: 107,907,826	G228*	probably null	Het
Myo1g	T	C	11: 6,520,766	D30G	possibly damaging	Het
Ndn	T	A	7: 62,348,825	C140S	probably damaging	Het
Nek5	G	T	8: 22,095,261	Q367K	probably benign	Het
Nrd1	A	T	4: 109,000,988	R52S	probably damaging	Het
Olfr1105	T	C	2: 87,034,212	D3G	probably benign	Het
Olfr633	T	C	7: 103,946,920	M118T	probably damaging	Het
Olfr74	A	T	2: 87,974,065	L200Q	probably damaging	Het
P2rx2	T	C	5: 110,341,805	S116G	probably benign	Het
Pcdhb13	G	A	18: 37,443,582	V338M	probably benign	Het
Pdcl2	A	T	5: 76,319,135	Y70*	probably null	Het
Ppm1e	T	C	11: 87,231,742	H463R	probably benign	Het
Ppm1f	T	A	16: 16,914,087	C134S	possibly damaging	Het
Ppp2r3a	A	G	9: 101,180,403	F180L	possibly damaging	Het
Pxn	A	G	5: 115,544,926	S96G	probably benign	Het
Rasa4	G	T	5: 136,095,599	Q167H	probably benign	Het
Rfx8	T	C	1: 39,718,480	I43V	possibly damaging	Het
Sez6	C	T	11: 77,954,742		probably benign	Het
Slc39a6	A	T	18: 24,589,823	D473E	probably benign	Het
Spocd1	A	G	4: 129,949,092	D68G	probably damaging	Het
Syt13	T	C	2: 92,940,804	F79L	probably benign	Het
Tas2r103	A	T	6: 133,036,512	M197K	probably benign	Het
Tbrg4	A	G	11: 6,618,492	V429A	probably damaging	Het
Tuft1	A	C	3: 94,615,768		probably null	Het
Uqcrc1	A	G	9: 108,947,869	T80A	probably damaging	Het
Vps18	A	G	2: 119,293,810	N406S	probably benign	Het
Xrn2	T	A	2: 147,026,590	W188R	probably damaging	Het
Zzef1	T	G	11: 72,916,509	S2738A	probably benign	Het

Other mutations in Nup133

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Nup133	APN	8	123939083	missense	probably damaging	0.98
IGL00507:Nup133	APN	8	123918967	nonsense	probably null
IGL00585:Nup133	APN	8	123909994	missense	probably damaging	1.00
IGL00676:Nup133	APN	8	123906298	intron	probably benign
IGL00966:Nup133	APN	8	123911906	missense	probably damaging	0.98
IGL01069:Nup133	APN	8	123930982	nonsense	probably null
IGL01553:Nup133	APN	8	123915324	missense	possibly damaging	0.58
IGL01669:Nup133	APN	8	123939130	nonsense	probably null
IGL01730:Nup133	APN	8	123938233	missense	probably benign	0.00
IGL01996:Nup133	APN	8	123946595	missense	probably benign	0.00
IGL02552:Nup133	APN	8	123929255	missense	possibly damaging	0.75
IGL02956:Nup133	APN	8	123949083	missense	probably benign	0.00
IGL03009:Nup133	APN	8	123933500	missense	possibly damaging	0.46
IGL03036:Nup133	APN	8	123946594	missense	probably benign	0.11
Slant	UTSW	8	123916281	splice site	probably null
R0010:Nup133	UTSW	8	123904579	missense	probably damaging	1.00
R0010:Nup133	UTSW	8	123904579	missense	probably damaging	1.00
R0139:Nup133	UTSW	8	123929343	missense	probably benign	0.00
R0344:Nup133	UTSW	8	123917446	missense	possibly damaging	0.82
R0730:Nup133	UTSW	8	123949008	missense	probably benign	0.00
R1301:Nup133	UTSW	8	123917417	intron	probably benign
R1453:Nup133	UTSW	8	123915375	missense	probably benign	0.00
R1570:Nup133	UTSW	8	123949176	start codon destroyed	possibly damaging	0.82
R1607:Nup133	UTSW	8	123949035	missense	probably benign	0.02
R1773:Nup133	UTSW	8	123930983	nonsense	probably null
R1992:Nup133	UTSW	8	123906221	missense	possibly damaging	0.80
R2062:Nup133	UTSW	8	123914575	missense	probably damaging	1.00
R2065:Nup133	UTSW	8	123914575	missense	probably damaging	1.00
R2066:Nup133	UTSW	8	123914575	missense	probably damaging	1.00
R2068:Nup133	UTSW	8	123914575	missense	probably damaging	1.00
R4397:Nup133	UTSW	8	123944301	missense	probably benign	0.04
R4683:Nup133	UTSW	8	123930982	nonsense	probably null
R4771:Nup133	UTSW	8	123929398	missense	probably damaging	1.00
R4910:Nup133	UTSW	8	123927131	missense	possibly damaging	0.91
R4911:Nup133	UTSW	8	123927131	missense	possibly damaging	0.91
R4968:Nup133	UTSW	8	123915196	missense	probably benign	0.07
R5411:Nup133	UTSW	8	123927206	missense	probably benign
R5470:Nup133	UTSW	8	123930966	missense	probably benign	0.00
R5664:Nup133	UTSW	8	123906281	missense	probably benign	0.01
R5907:Nup133	UTSW	8	123916299	missense	possibly damaging	0.90
R6003:Nup133	UTSW	8	123938292	missense	probably damaging	0.98
R6059:Nup133	UTSW	8	123914596	missense	probably damaging	1.00
R6219:Nup133	UTSW	8	123936873	missense	possibly damaging	0.90
R6292:Nup133	UTSW	8	123917437	missense	probably benign	0.01
R6672:Nup133	UTSW	8	123916281	splice site	probably null
R6737:Nup133	UTSW	8	123906291	missense	probably damaging	0.99
R6763:Nup133	UTSW	8	123944278	missense	possibly damaging	0.95
R6870:Nup133	UTSW	8	123899507	missense	probably benign	0.08
R6975:Nup133	UTSW	8	123915318	missense	probably damaging	0.99
R7101:Nup133	UTSW	8	123906227	missense	possibly damaging	0.89
R7114:Nup133	UTSW	8	123915373	missense	probably benign	0.00
R7271:Nup133	UTSW	8	123922414	missense	probably benign	0.34
R7501:Nup133	UTSW	8	123922414	missense	probably benign	0.34
R8054:Nup133	UTSW	8	123949217	intron	probably benign
X0023:Nup133	UTSW	8	123909988	missense	probably benign

Posted On

2015-04-16