Mutagenetix > Incidental Mutation

Incidental Mutation 'R2065:Nup133'

229094

Institutional Source

Beutler Lab

Gene Symbol

Nup133

Ensembl Gene

ENSMUSG00000039509

Gene Name

nucleoporin 133

Synonyms

mermaid, 4832420O05Rik

MMRRC Submission

040070-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2065 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123897123-123949265 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 123914575 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 869 (D869Y)

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: D869Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: D869Y

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

Meta Mutation Damage Score

0.5513

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 67,920,702	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,689,322		probably benign	Het
Adh6a	T	A	3: 138,325,237	D162E	probably benign	Het
Afap1l1	A	T	18: 61,739,122		probably null	Het
AI182371	A	G	2: 35,086,429		probably null	Het
Amy2a1	T	C	3: 113,530,568	I108V	probably benign	Het
Aox1	T	C	1: 58,059,192		probably null	Het
Ap3b2	A	G	7: 81,463,774	S896P	unknown	Het
Ascc2	A	T	11: 4,681,496	M646L	probably benign	Het
Atp11b	T	A	3: 35,839,074	Y859N	probably damaging	Het
Bag3	T	A	7: 128,545,774	V371D	probably damaging	Het
Bhmt	T	C	13: 93,617,612	Y363C	probably benign	Het
Btbd6	T	C	12: 112,978,135	Y356H	probably damaging	Het
C2cd2l	C	T	9: 44,316,335	R172Q	probably benign	Het
Ccnt1	A	T	15: 98,551,942	H156Q	probably benign	Het
Clptm1l	C	T	13: 73,607,723	Q153*	probably null	Het
Cnep1r1	G	T	8: 88,118,817		probably benign	Het
Cnksr2	A	C	X: 157,945,306	S224R	possibly damaging	Het
Cyp26b1	T	C	6: 84,576,555	M206V	probably benign	Het
Dtx2	C	T	5: 136,030,577	S493F	probably damaging	Het
Ece1	A	T	4: 137,958,082	M628L	probably benign	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Epha1	G	T	6: 42,366,053	H187Q	probably benign	Het
Erich6b	T	C	14: 75,658,911	I79T	probably benign	Het
F7	T	A	8: 13,035,183	V403D	probably damaging	Het
Fbln7	G	T	2: 128,877,466	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,478,471	W577*	probably null	Het
Fbxw28	T	C	9: 109,328,224	K319E	probably benign	Het
Fgb	C	A	3: 83,049,689	D25Y	probably benign	Het
Flg2	A	G	3: 93,202,231	E522G	unknown	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Gm12695	T	C	4: 96,769,726	T69A	probably benign	Het
Gm7361	A	T	5: 26,262,151	D256V	probably damaging	Het
Hpse	A	G	5: 100,698,931	S211P	probably damaging	Het
Ifnb1	T	A	4: 88,522,759	I6F	possibly damaging	Het
Il2rg	A	G	X: 101,267,810	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287	L320Q	probably damaging	Het
Iqca	T	C	1: 90,130,231	S249G	probably benign	Het
Itpr3	G	A	17: 27,098,076	M768I	probably benign	Het
Khdc1a	T	A	1: 21,350,972	M127K	probably benign	Het
Klhl42	T	A	6: 147,101,663	W312R	probably damaging	Het
L3mbtl4	C	A	17: 68,425,692	Q56K	probably benign	Het
Lce1k	G	A	3: 92,806,857	Q7*	probably null	Het
Lonp2	A	G	8: 86,665,775	T490A	probably damaging	Het
Mbd1	C	A	18: 74,276,884	T373K	probably damaging	Het
Mpp4	G	A	1: 59,143,782	P322L	possibly damaging	Het
Mrto4	T	C	4: 139,349,023	K86E	probably benign	Het
Naf1	A	G	8: 66,887,780	D414G	probably damaging	Het
Nbas	T	A	12: 13,566,157	L2232Q	probably damaging	Het
Ncr1	T	C	7: 4,338,207	F29L	probably benign	Het
Olfr1295	A	G	2: 111,564,712	I244T	probably damaging	Het
Olfr324	A	G	11: 58,597,570	N58S	probably damaging	Het
Olfr487	T	C	7: 108,212,340	Y63C	probably damaging	Het
Olfr498	T	A	7: 108,465,668	C115S	possibly damaging	Het
Olfr705	T	A	7: 106,714,166	R172W	probably benign	Het
Olfr709-ps1	T	G	7: 106,926,955	Y168S	probably damaging	Het
Orc2	A	G	1: 58,469,695	V431A	probably damaging	Het
Phc2	T	C	4: 128,747,136	F672S	probably damaging	Het
Pigr	G	A	1: 130,850,880	G767D	probably benign	Het
Plxnb3	T	A	X: 73,771,751	Y1845*	probably null	Het
Prl7a2	T	A	13: 27,660,887	Y172F	probably damaging	Het
Prokr1	T	C	6: 87,588,713	E50G	probably damaging	Het
Prph	A	T	15: 99,056,133	D196V	probably damaging	Het
Rapgef5	C	A	12: 117,584,119	C234*	probably null	Het
Sin3a	T	A	9: 57,110,800	D834E	possibly damaging	Het
Skint1	T	A	4: 112,025,533	V258D	probably benign	Het
Slc22a16	A	G	10: 40,585,020	I273V	possibly damaging	Het
Snx13	T	C	12: 35,138,066	M781T	possibly damaging	Het
Spag17	A	G	3: 100,013,208	I420V	probably benign	Het
Synj1	T	C	16: 90,991,649		probably null	Het
Tatdn2	A	G	6: 113,704,142	K379E	probably benign	Het
Tcaf2	T	A	6: 42,628,047	N601I	probably benign	Het
Thrap3	T	C	4: 126,175,396	Y654C	possibly damaging	Het
Tmcc1	C	CAT	6: 116,042,870		probably null	Het
Tmem132d	T	C	5: 127,784,441	D872G	probably benign	Het
Troap	T	C	15: 99,082,463	L508P	probably benign	Het
Trpd52l3	T	C	19: 30,003,962	V39A	probably benign	Het
Ttn	T	C	2: 76,714,373	N32795S	probably damaging	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Ubr5	T	C	15: 38,040,842	D266G	probably damaging	Het
Ugt2b36	T	C	5: 87,092,241	E95G	probably benign	Het
Vmn2r120	T	A	17: 57,524,553	H412L	possibly damaging	Het
Zgrf1	T	C	3: 127,613,350	C1589R	probably damaging	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
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
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'- GCCCAACAAGACAATGTAATGTG -3'
(R):5'- TGAGTAGTGGGAGTCTCCTC -3'

Sequencing Primer
(F):5'- ATGTGAAAATCTGTCATGTTCCCC -3'
(R):5'- TCTGGGGAGCCAGCAATG -3'

Posted On

2014-09-17