Mutagenetix > Incidental Mutation

Incidental Mutation 'R4771:Nup133'

367515

Institutional Source

Beutler Lab

Gene Symbol

Nup133

Ensembl Gene

ENSMUSG00000039509

Gene Name

nucleoporin 133

Synonyms

mermaid, 4832420O05Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4771 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123897123-123949265 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123929398 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 448 (D448V)

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: D448V

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

SMART Domains

Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: D448V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028P14Rik	A	G	19: 23,558,973 (GRCm38)	L190P	probably damaging	Het
2310022B05Rik	T	C	8: 124,639,561 (GRCm38)	T148A	probably benign	Het
Abcc4	G	T	14: 118,484,384 (GRCm38)	N1234K	probably benign	Het
Adamts20	C	T	15: 94,351,635 (GRCm38)		probably null	Het
Aqp9	C	T	9: 71,122,870 (GRCm38)	G212S	probably damaging	Het
Asb15	A	T	6: 24,570,622 (GRCm38)	N533I	probably damaging	Het
Brwd1	A	G	16: 96,003,318 (GRCm38)	V1884A	probably benign	Het
Casc4	T	A	2: 121,925,645 (GRCm38)	V352E	probably damaging	Het
Ccdc106	G	A	7: 5,057,522 (GRCm38)		probably null	Het
Cfap46	A	T	7: 139,630,608 (GRCm38)	L1774Q	probably null	Het
Clec2h	G	A	6: 128,674,155 (GRCm38)	E133K	probably damaging	Het
Cntn1	T	A	15: 92,305,091 (GRCm38)	F751L	possibly damaging	Het
Col20a1	A	T	2: 180,989,124 (GRCm38)	M62L	probably benign	Het
Col7a1	T	C	9: 108,971,925 (GRCm38)	V1899A	probably damaging	Het
Cpa5	T	A	6: 30,612,685 (GRCm38)	L28*	probably null	Het
Crb1	T	A	1: 139,328,204 (GRCm38)	E264D	probably damaging	Het
Creb3l2	A	T	6: 37,334,577 (GRCm38)	S426T	probably benign	Het
Cspg5	T	A	9: 110,251,127 (GRCm38)	N373K	probably damaging	Het
Ctso	T	C	3: 81,932,740 (GRCm38)	S26P	probably benign	Het
Depdc1b	A	C	13: 108,382,900 (GRCm38)	D348A	probably benign	Het
Diaph1	A	T	18: 37,853,551 (GRCm38)	M1127K	probably damaging	Het
Dlgap1	A	T	17: 70,593,380 (GRCm38)	K397*	probably null	Het
Dock3	T	A	9: 106,952,358 (GRCm38)	H1119L	possibly damaging	Het
Dok4	G	T	8: 94,865,167 (GRCm38)		probably null	Het
Dram2	A	G	3: 106,573,045 (GRCm38)	T225A	probably damaging	Het
Dst	G	A	1: 34,249,484 (GRCm38)	R5603H	probably damaging	Het
Ehbp1l1	A	G	19: 5,725,968 (GRCm38)	F18S	probably damaging	Het
Epha5	A	G	5: 84,150,419 (GRCm38)	V427A	probably damaging	Het
Exoc4	A	T	6: 33,441,949 (GRCm38)		probably null	Het
Exph5	C	T	9: 53,373,665 (GRCm38)	T682I	possibly damaging	Het
Fam35a	G	A	14: 34,268,706 (GRCm38)	T81M	probably damaging	Het
Fam92a	T	A	4: 12,155,689 (GRCm38)	Q311L	probably benign	Het
Fnbp1l	A	T	3: 122,558,103 (GRCm38)	S264T	possibly damaging	Het
Ggnbp2	A	T	11: 84,834,488 (GRCm38)	D580E	probably benign	Het
Gm10277	G	A	11: 77,785,708 (GRCm38)		probably benign	Het
Gtf2a1l	C	A	17: 88,690,020 (GRCm38)	P93Q	probably benign	Het
Hydin	A	T	8: 110,532,883 (GRCm38)	I2496F	probably benign	Het
Ighv7-2	A	C	12: 113,912,467 (GRCm38)	I6S	probably benign	Het
Irs1	A	G	1: 82,287,975 (GRCm38)	V840A	probably benign	Het
Itgal	A	G	7: 127,328,233 (GRCm38)	E965G	probably damaging	Het
Izumo1	T	A	7: 45,622,810 (GRCm38)	F5Y	probably damaging	Het
Izumo1	T	G	7: 45,622,809 (GRCm38)	F5V	probably benign	Het
Kif13a	A	G	13: 46,825,211 (GRCm38)	S175P	probably damaging	Het
Klf14	A	G	6: 30,958,025 (GRCm38)	F225L	probably damaging	Het
Kpna1	T	C	16: 36,033,403 (GRCm38)	Y468H	probably damaging	Het
Krt5	T	A	15: 101,709,059 (GRCm38)	Q413L	probably damaging	Het
Lbr	T	C	1: 181,838,421 (GRCm38)	Y41C	probably damaging	Het
Lmcd1	A	T	6: 112,315,873 (GRCm38)	N229Y	probably damaging	Het
March3	T	A	18: 56,783,098 (GRCm38)	H175L	probably benign	Het
Mcmbp	A	G	7: 128,698,400 (GRCm38)		probably null	Het
Med27	T	A	2: 29,413,503 (GRCm38)	L16Q	probably damaging	Het
Mex3b	A	T	7: 82,869,065 (GRCm38)	Q196L	possibly damaging	Het
Mga	T	C	2: 119,964,294 (GRCm38)	S2820P	probably damaging	Het
Mroh2a	C	T	1: 88,251,365 (GRCm38)	L1104F	probably damaging	Het
Mta3	A	G	17: 83,755,674 (GRCm38)	E166G	probably damaging	Het
Mthfd2l	A	G	5: 90,948,868 (GRCm38)	E116G	possibly damaging	Het
Musk	A	G	4: 58,301,706 (GRCm38)	I155V	probably benign	Het
Myh7b	G	A	2: 155,626,394 (GRCm38)	W834*	probably null	Het
Myo18b	T	A	5: 112,692,227 (GRCm38)	R2567*	probably null	Het
Nars2	A	T	7: 97,035,245 (GRCm38)	E325V	probably damaging	Het
Nploc4	A	G	11: 120,421,434 (GRCm38)	V106A	possibly damaging	Het
Nudcd1	A	T	15: 44,405,482 (GRCm38)	S167R	probably damaging	Het
Olfr1042	G	T	2: 86,160,073 (GRCm38)	T99N	probably benign	Het
Olfr495	A	T	7: 108,396,022 (GRCm38)	K301*	probably null	Het
Pax6	C	A	2: 105,696,502 (GRCm38)	P251Q	probably benign	Het
Pcdh8	C	T	14: 79,768,270 (GRCm38)	A893T	possibly damaging	Het
Per3	A	T	4: 151,009,259 (GRCm38)	V1033E	probably damaging	Het
Polr1e	T	C	4: 45,019,282 (GRCm38)	S44P	probably damaging	Het
Pou4f2	T	A	8: 78,435,236 (GRCm38)	H246L	possibly damaging	Het
Psmd2	G	A	16: 20,662,679 (GRCm38)	R828Q	probably damaging	Het
Ptprq	A	G	10: 107,688,427 (GRCm38)	S482P	probably benign	Het
Rbm14	G	T	19: 4,802,643 (GRCm38)		probably benign	Het
Reln	T	C	5: 22,049,700 (GRCm38)	D557G	probably damaging	Het
Rhobtb2	A	G	14: 69,797,050 (GRCm38)	I242T	probably benign	Het
Runx1	C	A	16: 92,695,741 (GRCm38)	V5L	possibly damaging	Het
Slc13a1	A	T	6: 24,100,340 (GRCm38)	Y381*	probably null	Het
Smyd3	A	T	1: 179,094,396 (GRCm38)	C180S	probably damaging	Het
Sntg2	T	A	12: 30,276,659 (GRCm38)		probably null	Het
Snx19	G	A	9: 30,433,638 (GRCm38)	V678I	probably damaging	Het
Spag5	G	A	11: 78,304,766 (GRCm38)	A300T	probably damaging	Het
Spdl1	T	A	11: 34,813,327 (GRCm38)	R560W	probably damaging	Het
Spen	T	C	4: 141,472,596 (GRCm38)	T2884A	probably benign	Het
Spg11	G	A	2: 122,065,482 (GRCm38)	Q1752*	probably null	Het
Srrm4	C	A	5: 116,475,175 (GRCm38)		probably null	Het
Ssc4d	A	G	5: 135,970,220 (GRCm38)	L43P	probably damaging	Het
Sspo	A	G	6: 48,460,879 (GRCm38)	D1324G	probably damaging	Het
Tkt	T	G	14: 30,567,025 (GRCm38)	I238S	probably damaging	Het
Tmem184b	A	T	15: 79,377,177 (GRCm38)	N76K	probably benign	Het
Trpm6	A	G	19: 18,813,493 (GRCm38)	M631V	probably damaging	Het
Ttll6	A	C	11: 96,133,829 (GRCm38)	E15A	possibly damaging	Het
Ttn	T	C	2: 76,738,952 (GRCm38)	D27199G	probably damaging	Het
Ubn2	A	T	6: 38,487,153 (GRCm38)		probably null	Het
Ubr5	A	C	15: 38,018,297 (GRCm38)	I866M	possibly damaging	Het
Urb1	T	C	16: 90,753,518 (GRCm38)	T2149A	probably benign	Het
Ush2a	G	T	1: 188,797,769 (GRCm38)	V3252L	possibly damaging	Het
Usp24	A	G	4: 106,362,180 (GRCm38)		probably null	Het
Vill	T	A	9: 119,068,434 (GRCm38)	M259K	probably damaging	Het
Vldlr	T	C	19: 27,239,890 (GRCm38)	I411T	probably damaging	Het
Vmn2r120	A	T	17: 57,524,887 (GRCm38)	W301R	probably damaging	Het
Vps13b	G	A	15: 35,910,800 (GRCm38)	S3570N	probably damaging	Het
Vps13c	T	C	9: 67,929,539 (GRCm38)	V1773A	probably benign	Het
Vtn	A	G	11: 78,501,574 (GRCm38)	D326G	probably benign	Het
Wdr93	A	T	7: 79,776,763 (GRCm38)	H592L	probably damaging	Het
Zdhhc19	A	G	16: 32,499,135 (GRCm38)	D94G	probably damaging	Het
Zfand4	A	T	6: 116,314,350 (GRCm38)	E188V	probably damaging	Het
Zfp523	C	A	17: 28,201,338 (GRCm38)		probably null	Het
Zfp536	T	C	7: 37,568,884 (GRCm38)	D369G	probably damaging	Het
Zfp608	T	A	18: 54,988,300 (GRCm38)	T72S	probably benign	Het
Zfp804a	T	A	2: 82,257,942 (GRCm38)	V705E	probably benign	Het
Zfp974	T	C	7: 27,926,308 (GRCm38)	T46A	probably damaging	Het
Zkscan4	C	T	13: 21,479,246 (GRCm38)	Q52*	probably null	Het

Other mutations in Nup133

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Nup133	APN	8	123,939,083 (GRCm38)	missense	probably damaging	0.98
IGL00507:Nup133	APN	8	123,918,967 (GRCm38)	nonsense	probably null
IGL00585:Nup133	APN	8	123,909,994 (GRCm38)	missense	probably damaging	1.00
IGL00676:Nup133	APN	8	123,906,298 (GRCm38)	intron	probably benign
IGL00966:Nup133	APN	8	123,911,906 (GRCm38)	missense	probably damaging	0.98
IGL01069:Nup133	APN	8	123,930,982 (GRCm38)	nonsense	probably null
IGL01553:Nup133	APN	8	123,915,324 (GRCm38)	missense	possibly damaging	0.58
IGL01669:Nup133	APN	8	123,939,130 (GRCm38)	nonsense	probably null
IGL01730:Nup133	APN	8	123,938,233 (GRCm38)	missense	probably benign	0.00
IGL01996:Nup133	APN	8	123,946,595 (GRCm38)	missense	probably benign	0.00
IGL02332:Nup133	APN	8	123,907,832 (GRCm38)	missense	probably damaging	1.00
IGL02552:Nup133	APN	8	123,929,255 (GRCm38)	missense	possibly damaging	0.75
IGL02956:Nup133	APN	8	123,949,083 (GRCm38)	missense	probably benign	0.00
IGL03009:Nup133	APN	8	123,933,500 (GRCm38)	missense	possibly damaging	0.46
IGL03036:Nup133	APN	8	123,946,594 (GRCm38)	missense	probably benign	0.11
Cadenza	UTSW	8	123,911,888 (GRCm38)	frame shift	probably null
Gangen	UTSW	8	123,916,282 (GRCm38)	critical splice donor site	probably null
hochzeit	UTSW	8	123,929,343 (GRCm38)	missense	probably benign	0.00
low_road	UTSW	8	123,904,579 (GRCm38)	missense	probably damaging	1.00
Pathway	UTSW	8	123,917,446 (GRCm38)	missense	possibly damaging	0.82
Slant	UTSW	8	123,916,281 (GRCm38)	splice site	probably null
R0010:Nup133	UTSW	8	123,904,579 (GRCm38)	missense	probably damaging	1.00
R0010:Nup133	UTSW	8	123,904,579 (GRCm38)	missense	probably damaging	1.00
R0139:Nup133	UTSW	8	123,929,343 (GRCm38)	missense	probably benign	0.00
R0344:Nup133	UTSW	8	123,917,446 (GRCm38)	missense	possibly damaging	0.82
R0730:Nup133	UTSW	8	123,949,008 (GRCm38)	missense	probably benign	0.00
R1301:Nup133	UTSW	8	123,917,417 (GRCm38)	intron	probably benign
R1453:Nup133	UTSW	8	123,915,375 (GRCm38)	missense	probably benign	0.00
R1570:Nup133	UTSW	8	123,949,176 (GRCm38)	start codon destroyed	possibly damaging	0.82
R1607:Nup133	UTSW	8	123,949,035 (GRCm38)	missense	probably benign	0.02
R1773:Nup133	UTSW	8	123,930,983 (GRCm38)	nonsense	probably null
R1992:Nup133	UTSW	8	123,906,221 (GRCm38)	missense	possibly damaging	0.80
R2062:Nup133	UTSW	8	123,914,575 (GRCm38)	missense	probably damaging	1.00
R2065:Nup133	UTSW	8	123,914,575 (GRCm38)	missense	probably damaging	1.00
R2066:Nup133	UTSW	8	123,914,575 (GRCm38)	missense	probably damaging	1.00
R2068:Nup133	UTSW	8	123,914,575 (GRCm38)	missense	probably damaging	1.00
R4397:Nup133	UTSW	8	123,944,301 (GRCm38)	missense	probably benign	0.04
R4683:Nup133	UTSW	8	123,930,982 (GRCm38)	nonsense	probably null
R4910:Nup133	UTSW	8	123,927,131 (GRCm38)	missense	possibly damaging	0.91
R4911:Nup133	UTSW	8	123,927,131 (GRCm38)	missense	possibly damaging	0.91
R4968:Nup133	UTSW	8	123,915,196 (GRCm38)	missense	probably benign	0.07
R5411:Nup133	UTSW	8	123,927,206 (GRCm38)	missense	probably benign
R5470:Nup133	UTSW	8	123,930,966 (GRCm38)	missense	probably benign	0.00
R5664:Nup133	UTSW	8	123,906,281 (GRCm38)	missense	probably benign	0.01
R5907:Nup133	UTSW	8	123,916,299 (GRCm38)	missense	possibly damaging	0.90
R6003:Nup133	UTSW	8	123,938,292 (GRCm38)	missense	probably damaging	0.98
R6059:Nup133	UTSW	8	123,914,596 (GRCm38)	missense	probably damaging	1.00
R6219:Nup133	UTSW	8	123,936,873 (GRCm38)	missense	possibly damaging	0.90
R6292:Nup133	UTSW	8	123,917,437 (GRCm38)	missense	probably benign	0.01
R6672:Nup133	UTSW	8	123,916,281 (GRCm38)	splice site	probably null
R6737:Nup133	UTSW	8	123,906,291 (GRCm38)	missense	probably damaging	0.99
R6763:Nup133	UTSW	8	123,944,278 (GRCm38)	missense	possibly damaging	0.95
R6870:Nup133	UTSW	8	123,899,507 (GRCm38)	missense	probably benign	0.08
R6975:Nup133	UTSW	8	123,915,318 (GRCm38)	missense	probably damaging	0.99
R7101:Nup133	UTSW	8	123,906,227 (GRCm38)	missense	possibly damaging	0.89
R7114:Nup133	UTSW	8	123,915,373 (GRCm38)	missense	probably benign	0.00
R7271:Nup133	UTSW	8	123,922,414 (GRCm38)	missense	probably benign	0.34
R7501:Nup133	UTSW	8	123,922,414 (GRCm38)	missense	probably benign	0.34
R8054:Nup133	UTSW	8	123,949,217 (GRCm38)	intron	probably benign
R8397:Nup133	UTSW	8	123,922,417 (GRCm38)	missense	probably benign	0.17
R8703:Nup133	UTSW	8	123,916,282 (GRCm38)	critical splice donor site	probably null
R8811:Nup133	UTSW	8	123,911,888 (GRCm38)	frame shift	probably null
R8813:Nup133	UTSW	8	123,911,888 (GRCm38)	frame shift	probably null
R8952:Nup133	UTSW	8	123,907,761 (GRCm38)	missense	probably damaging	1.00
R9116:Nup133	UTSW	8	123,933,416 (GRCm38)	missense	probably benign	0.00
R9340:Nup133	UTSW	8	123,938,142 (GRCm38)	missense	probably benign	0.38
X0023:Nup133	UTSW	8	123,909,988 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTTAAACGATCTTCGATCCTTACC -3'
(R):5'- TTATCTGTGCAGGGACAGGG -3'

Sequencing Primer
(F):5'- AACGATCTTCGATCCTTACCTCACTG -3'
(R):5'- CTAAGAACTGAACTCGTCGTGTGC -3'

Posted On

2015-12-29