Mutagenetix > Incidental Mutation

Incidental Mutation 'R4910:Nup133'

439508

Institutional Source

Beutler Lab

Gene Symbol

Nup133

Ensembl Gene

ENSMUSG00000039509

Gene Name

nucleoporin 133

Synonyms

mermaid, 4832420O05Rik

MMRRC Submission

042512-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4910 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

123897123-123949265 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123927131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 530 (R530G)

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: R530G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: R530G

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

Meta Mutation Damage Score

0.3832

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.6%
20x: 86.1%

Validation Efficiency

95% (144/151)

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	A	3: 36,998,199	T3016K	probably damaging	Het
Adam3	T	A	8: 24,694,305	I560L	probably benign	Het
Agxt	T	C	1: 93,135,714	F113L	probably benign	Het
Aknad1	T	A	3: 108,781,252		probably null	Het
Alpk2	T	A	18: 65,266,286	K2074*	probably null	Het
Apob	A	G	12: 8,007,848	Y2077C	probably damaging	Het
Arhgap17	A	T	7: 123,308,377	L254Q	probably damaging	Het
Arhgap26	T	A	18: 38,993,637		probably benign	Het
Arhgef5	A	G	6: 43,272,828	D171G	probably benign	Het
Arid1b	T	A	17: 5,342,203	S2003T	probably damaging	Het
Armc5	T	G	7: 128,240,728	L406R	possibly damaging	Het
Arsb	T	C	13: 93,771,977	V67A	probably benign	Het
Aspm	A	G	1: 139,491,543	Y2982C	probably damaging	Het
Btbd7	A	G	12: 102,808,048	L487P	probably damaging	Het
Card11	C	G	5: 140,874,414	D1063H	probably damaging	Het
Ccdc186	G	A	19: 56,798,691	T615M	probably damaging	Het
Cd101	T	A	3: 100,993,889	T960S	probably benign	Het
Cdca7l	C	A	12: 117,873,785	S191*	probably null	Het
Cemip	A	T	7: 83,997,411	I143N	probably damaging	Het
Cep170	C	T	1: 176,782,263	E161K	possibly damaging	Het
Chrm2	A	T	6: 36,524,233	T342S	probably benign	Het
Cib2	A	G	9: 54,549,879	F34L	probably benign	Het
Cnot1	A	T	8: 95,733,231	I1836N	probably benign	Het
Col4a3	C	A	1: 82,672,679	P552Q	unknown	Het
Cp	T	A	3: 19,989,224		probably benign	Het
Cul3	C	T	1: 80,290,089	V112I	probably benign	Het
Dcdc5	A	G	2: 106,365,550		noncoding transcript	Het
Disp1	A	T	1: 183,135,463	V133E	probably damaging	Het
Dlg4	A	G	11: 70,030,925	D30G	probably damaging	Het
Dopey1	C	T	9: 86,492,061	T191I	probably damaging	Het
Enam	T	G	5: 88,502,314	S561A	probably benign	Het
Fbxw8	G	T	5: 118,125,027		probably null	Het
Filip1	A	G	9: 79,817,932	V1135A	probably benign	Het
Galnt6	T	C	15: 100,716,178	T81A	probably benign	Het
Ghdc	T	C	11: 100,766,988	K472E	probably benign	Het
Gm10568	T	G	1: 3,680,941		noncoding transcript	Het
Gm4788	T	G	1: 139,774,563	D61A	probably damaging	Het
Gm4953	T	A	1: 159,168,359		noncoding transcript	Het
Gm6871	T	A	7: 41,573,592	H24L	probably benign	Het
Gm8298	T	A	3: 59,869,014		probably null	Het
Gpr155	G	A	2: 73,367,538	Q413*	probably null	Het
Grhl2	A	G	15: 37,291,676		probably null	Het
Ighv1-31	G	C	12: 114,829,508	S36*	probably null	Het
Ighv8-5	A	G	12: 115,067,842	S26P	probably damaging	Het
Igkv17-134	A	C	6: 67,720,926		probably benign	Het
Igkv5-48	A	C	6: 69,726,849	L24R	probably damaging	Het
Isg20l2	T	A	3: 87,939,263	V340E	probably damaging	Het
Lrrtm1	A	G	6: 77,244,901	Y447C	probably damaging	Het
Ltbp1	T	C	17: 75,327,292	S855P	probably damaging	Het
Mgat4e	A	T	1: 134,541,864	N147K	probably damaging	Het
Mlc1	A	G	15: 88,958,212	L315P	possibly damaging	Het
Mrgpra2a	A	G	7: 47,426,544	V322A	probably benign	Het
Mroh7	T	C	4: 106,709,955		probably null	Het
Mybpc1	T	A	10: 88,555,724	K304*	probably null	Het
Nlrp14	A	C	7: 107,186,583	D622A	possibly damaging	Het
Nlrp1b	T	A	11: 71,217,277	H466L	probably benign	Het
Nlrp4d	T	A	7: 10,378,409		noncoding transcript	Het
Nrxn3	A	G	12: 89,260,360	E628G	possibly damaging	Het
Nup98	A	G	7: 102,195,800	S21P	unknown	Het
Olfr1307	A	T	2: 111,945,078	I126K	possibly damaging	Het
Olfr168	T	C	16: 19,530,018	T301A	probably benign	Het
Olfr173	T	A	16: 58,797,442	T135S	probably benign	Het
Olfr251	T	A	9: 38,378,742	V287E	probably null	Het
Olfr671	G	A	7: 104,975,479	P169S	possibly damaging	Het
Olfr753-ps1	T	C	17: 37,170,043	I202V	probably benign	Het
Olfr798	T	C	10: 129,625,807	T85A	probably damaging	Het
Otog	A	T	7: 46,264,062	Y773F	probably damaging	Het
Otog	A	T	7: 46,298,534	I2320F	probably damaging	Het
Otogl	T	C	10: 107,879,517	S433G	probably benign	Het
Pcdhb17	A	T	18: 37,485,159	M1L	possibly damaging	Het
Pde7b	T	A	10: 20,724,734		probably benign	Het
Pgm2	T	C	4: 99,963,527	V207A	probably damaging	Het
Pkd1	T	A	17: 24,572,687	V1116E	probably damaging	Het
Pkd1l1	T	A	11: 8,929,360	Y497F	possibly damaging	Het
Pomgnt2	T	C	9: 121,982,947	N256S	probably benign	Het
Pot1a	A	T	6: 25,746,021		probably benign	Het
Prdm9	T	C	17: 15,544,323	T732A	probably benign	Het
Prg4	T	A	1: 150,455,823		probably benign	Het
Ptpro	T	C	6: 137,368,338	V114A	probably damaging	Het
Pyurf	A	G	6: 57,691,948	S20P	unknown	Het
Rasgrf1	A	G	9: 89,976,752	T488A	probably benign	Het
Rassf8	A	T	6: 145,815,280	K111*	probably null	Het
Reps1	A	T	10: 18,107,688	E426D	probably damaging	Het
Robo2	T	C	16: 73,933,778	K982R	probably damaging	Het
Rps23	T	C	13: 90,923,752		probably null	Het
Scamp4	T	A	10: 80,609,671	V56E	probably damaging	Het
Serpina1c	C	T	12: 103,895,032	V408I	probably benign	Het
Sigirr	A	G	7: 141,093,788	W49R	probably damaging	Het
Slc17a6	A	T	7: 51,658,741	H271L	possibly damaging	Het
Slc7a5	G	T	8: 121,885,122	T389K	probably damaging	Het
Slf1	T	A	13: 77,043,880	H945L	probably benign	Het
Slit3	T	C	11: 35,632,722	S662P	probably damaging	Het
Snta1	C	A	2: 154,377,018	E466*	probably null	Het
Sowaha	A	G	11: 53,478,445	L488P	probably damaging	Het
Spata17	C	A	1: 187,194,011	V41F	probably damaging	Het
Spta1	T	A	1: 174,217,863		probably null	Het
Srrm2	T	A	17: 23,815,388		probably benign	Het
Stard13	T	C	5: 151,062,527	N388S	probably benign	Het
Stmn3	T	C	2: 181,308,837	K59E	probably damaging	Het
Sval1	A	G	6: 41,955,444	N76S	probably benign	Het
Svep1	T	C	4: 58,096,276	H1448R	possibly damaging	Het
Sycp2	A	T	2: 178,358,224	D986E	probably benign	Het
Sytl5	C	T	X: 9,915,602	P181L	possibly damaging	Het
Tbkbp1	G	A	11: 97,139,130	S400L	probably benign	Het
Tesc	G	T	5: 118,056,466		probably benign	Het
Tjp1	C	T	7: 65,343,727	G33R	probably damaging	Het
Tlr11	C	A	14: 50,362,889	F777L	probably benign	Het
Tmem156	A	G	5: 65,091,462		probably benign	Het
Top3a	A	G	11: 60,752,378		probably benign	Het
Tpcn1	A	G	5: 120,556,519	W162R	probably damaging	Het
Tpd52l2	A	T	2: 181,515,212		probably benign	Het
Trim80	G	A	11: 115,446,455	G381D	probably damaging	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Vmn2r117	TC	T	17: 23,479,513		probably null	Het
Vmn2r56	T	A	7: 12,715,535	I259F	possibly damaging	Het
Vmn2r59	T	C	7: 42,043,653	T508A	probably benign	Het
Wdr73	A	G	7: 80,891,708	V362A	probably damaging	Het
Zdhhc21	G	T	4: 82,820,331	T207K	possibly damaging	Het
Zfp120	T	A	2: 150,117,952	Q150L	probably damaging	Het
Zfp212	C	A	6: 47,931,499	Q471K	possibly damaging	Het
Zfp804b	C	T	5: 6,770,540	G841D	possibly damaging	Het
Znfx1	A	T	2: 167,036,804	M1884K	probably damaging	Het
Znfx1	G	T	2: 167,037,482	A1658D	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
IGL02332:Nup133	APN	8	123907832	missense	probably damaging	1.00
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
Cadenza	UTSW	8	123911888	frame shift	probably null
Gangen	UTSW	8	123916282	critical splice donor site	probably null
hochzeit	UTSW	8	123929343	missense	probably benign	0.00
low_road	UTSW	8	123904579	missense	probably damaging	1.00
Pathway	UTSW	8	123917446	missense	possibly damaging	0.82
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
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
R8397:Nup133	UTSW	8	123922417	missense	probably benign	0.17
R8703:Nup133	UTSW	8	123916282	critical splice donor site	probably null
R8811:Nup133	UTSW	8	123911888	frame shift	probably null
R8813:Nup133	UTSW	8	123911888	frame shift	probably null
R8952:Nup133	UTSW	8	123907761	missense	probably damaging	1.00
R9116:Nup133	UTSW	8	123933416	missense	probably benign	0.00
R9340:Nup133	UTSW	8	123938142	missense	probably benign	0.38
X0023:Nup133	UTSW	8	123909988	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAGTTACACAGCAAGACCC -3'
(R):5'- TCTGGCTGTGTGATCTACCG -3'

Sequencing Primer
(F):5'- TGAGTTACACAGCAAGACCCATAAAG -3'
(R):5'- CGCAGGATCACCTTTCAGG -3'

Posted On

2016-11-08