Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03369:Nup153'

420242

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup153

Ensembl Gene

ENSMUSG00000021374

Gene Name

nucleoporin 153

Synonyms

B130015D15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

IGL03369

Quality Score

Status

Chromosome

Chromosomal Location

46833381-46881416 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 46854459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021803]

AlphaFold

E9Q3G8

Predicted Effect

probably null
Transcript: ENSMUST00000021803

SMART Domains

Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
Pfam:Nup153	114	627	6e-236	PFAM
ZnF_RBZ	656	680	6.56e-6	SMART
ZnF_RBZ	719	743	5.89e-8	SMART
low complexity region	756	775	N/A	INTRINSIC
ZnF_RBZ	787	811	7.2e-3	SMART
low complexity region	815	830	N/A	INTRINSIC
ZnF_RBZ	844	868	1.64e-6	SMART
low complexity region	898	911	N/A	INTRINSIC
low complexity region	1078	1085	N/A	INTRINSIC
low complexity region	1183	1207	N/A	INTRINSIC
low complexity region	1248	1260	N/A	INTRINSIC
low complexity region	1271	1296	N/A	INTRINSIC
Pfam:Nup_retrotrp_bd	1372	1462	4.4e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224186

Predicted Effect

probably null
Transcript: ENSMUST00000225894

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,333,380 (GRCm39)	N72S	possibly damaging	Het
A2m	G	A	6: 121,653,862 (GRCm39)		probably null	Het
Angptl3	A	T	4: 98,923,057 (GRCm39)		probably benign	Het
Aox4	A	G	1: 58,301,746 (GRCm39)	D1106G	probably benign	Het
Capn13	G	A	17: 73,648,149 (GRCm39)		probably benign	Het
Cep250	A	G	2: 155,832,191 (GRCm39)	H1371R	probably benign	Het
Chrna1	A	T	2: 73,400,789 (GRCm39)	F247Y	probably benign	Het
Col2a1	T	C	15: 97,879,923 (GRCm39)	T813A	unknown	Het
Dab2	T	C	15: 6,464,790 (GRCm39)	V414A	possibly damaging	Het
Dach2	T	C	X: 112,465,937 (GRCm39)		probably benign	Het
Fap	A	G	2: 62,333,699 (GRCm39)		probably benign	Het
Fgd5	T	A	6: 91,965,396 (GRCm39)	V385D	probably damaging	Het
Fmnl1	A	G	11: 103,088,008 (GRCm39)		probably null	Het
Gorasp2	G	A	2: 70,513,336 (GRCm39)	G201D	probably damaging	Het
Gp2	T	A	7: 119,050,783 (GRCm39)	Q316L	probably damaging	Het
Gpx8	T	C	13: 113,179,696 (GRCm39)	I202V	probably damaging	Het
Gsta3	A	G	1: 21,335,173 (GRCm39)	K218R	probably benign	Het
Lama3	C	T	18: 12,686,340 (GRCm39)	T1195I	probably benign	Het
Map3k12	T	C	15: 102,410,514 (GRCm39)	R488G	possibly damaging	Het
Mapt	A	T	11: 104,173,259 (GRCm39)	Y18F	probably damaging	Het
Med21	T	C	6: 146,544,143 (GRCm39)	V12A	probably benign	Het
Mgat4b	A	G	11: 50,124,936 (GRCm39)	E457G	possibly damaging	Het
Mybl1	T	A	1: 9,742,780 (GRCm39)	K609N	probably damaging	Het
Ncaph2	T	G	15: 89,247,858 (GRCm39)	V75G	probably benign	Het
Neb	A	G	2: 52,068,049 (GRCm39)	Y5795H	probably benign	Het
Or6c215	T	C	10: 129,638,340 (GRCm39)	D18G	probably damaging	Het
Or6y1	T	A	1: 174,276,435 (GRCm39)	I82N	probably damaging	Het
Plekhf2	G	T	4: 10,990,703 (GRCm39)	T213K	probably benign	Het
Plekho2	C	A	9: 65,466,776 (GRCm39)	G105W	probably damaging	Het
Polr3b	G	A	10: 84,512,816 (GRCm39)	G566D	probably damaging	Het
Rasgrf1	T	C	9: 89,892,504 (GRCm39)	I1068T	probably damaging	Het
Rnf213	A	T	11: 119,312,294 (GRCm39)	E907V	probably benign	Het
Runx1t1	C	T	4: 13,881,107 (GRCm39)	S469F	probably damaging	Het
Spata31e4	G	T	13: 50,857,200 (GRCm39)	C946F	possibly damaging	Het
Top1	A	T	2: 160,535,647 (GRCm39)	D182V	unknown	Het
Uckl1	T	C	2: 181,211,982 (GRCm39)	T375A	probably benign	Het
Usp53	A	T	3: 122,727,370 (GRCm39)		probably benign	Het
Vmn2r61	T	A	7: 41,909,517 (GRCm39)	I14N	probably benign	Het
Wbp4	A	T	14: 79,707,558 (GRCm39)	N184K	probably damaging	Het

Other mutations in Nup153

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Nup153	APN	13	46,834,626 (GRCm39)	unclassified	probably benign
IGL01312:Nup153	APN	13	46,840,300 (GRCm39)	missense	probably benign	0.03
IGL01459:Nup153	APN	13	46,866,402 (GRCm39)	missense	possibly damaging	0.84
IGL01646:Nup153	APN	13	46,837,583 (GRCm39)	missense	possibly damaging	0.80
IGL03064:Nup153	APN	13	46,847,315 (GRCm39)	missense	probably benign
IGL03288:Nup153	APN	13	46,858,681 (GRCm39)	missense	possibly damaging	0.71
IGL03371:Nup153	APN	13	46,836,628 (GRCm39)	missense	probably benign	0.34
R0193:Nup153	UTSW	13	46,863,130 (GRCm39)	missense	probably benign	0.01
R0244:Nup153	UTSW	13	46,847,412 (GRCm39)	missense	probably benign	0.03
R0448:Nup153	UTSW	13	46,870,657 (GRCm39)	missense	probably benign	0.00
R0943:Nup153	UTSW	13	46,850,248 (GRCm39)	splice site	probably benign
R1219:Nup153	UTSW	13	46,840,695 (GRCm39)	missense	probably benign	0.01
R1381:Nup153	UTSW	13	46,842,657 (GRCm39)	missense	probably damaging	1.00
R1709:Nup153	UTSW	13	46,847,450 (GRCm39)	missense	probably damaging	1.00
R1727:Nup153	UTSW	13	46,847,261 (GRCm39)	missense	probably damaging	1.00
R1818:Nup153	UTSW	13	46,835,113 (GRCm39)	missense	possibly damaging	0.94
R1824:Nup153	UTSW	13	46,867,223 (GRCm39)	missense	probably damaging	1.00
R1928:Nup153	UTSW	13	46,854,502 (GRCm39)	missense	probably damaging	0.98
R2108:Nup153	UTSW	13	46,846,986 (GRCm39)	critical splice donor site	probably null
R2110:Nup153	UTSW	13	46,837,404 (GRCm39)	missense	probably benign	0.00
R2111:Nup153	UTSW	13	46,837,404 (GRCm39)	missense	probably benign	0.00
R2173:Nup153	UTSW	13	46,855,076 (GRCm39)	splice site	probably benign
R2231:Nup153	UTSW	13	46,863,103 (GRCm39)	critical splice donor site	probably null
R3879:Nup153	UTSW	13	46,837,436 (GRCm39)	missense	probably damaging	1.00
R4634:Nup153	UTSW	13	46,840,706 (GRCm39)	missense	possibly damaging	0.49
R4662:Nup153	UTSW	13	46,840,750 (GRCm39)	missense	possibly damaging	0.68
R4932:Nup153	UTSW	13	46,866,213 (GRCm39)	nonsense	probably null
R5011:Nup153	UTSW	13	46,840,879 (GRCm39)	missense	possibly damaging	0.62
R5023:Nup153	UTSW	13	46,834,585 (GRCm39)	unclassified	probably benign
R5069:Nup153	UTSW	13	46,863,268 (GRCm39)	missense	probably benign	0.05
R5137:Nup153	UTSW	13	46,837,629 (GRCm39)	missense	probably damaging	0.99
R5323:Nup153	UTSW	13	46,870,682 (GRCm39)	missense	probably benign	0.19
R5345:Nup153	UTSW	13	46,840,341 (GRCm39)	nonsense	probably null
R5536:Nup153	UTSW	13	46,836,485 (GRCm39)	missense	probably benign	0.01
R5613:Nup153	UTSW	13	46,840,747 (GRCm39)	missense	possibly damaging	0.64
R5620:Nup153	UTSW	13	46,837,482 (GRCm39)	nonsense	probably null
R5764:Nup153	UTSW	13	46,840,803 (GRCm39)	missense	probably damaging	0.97
R5849:Nup153	UTSW	13	46,840,452 (GRCm39)	missense	probably damaging	0.99
R6454:Nup153	UTSW	13	46,863,136 (GRCm39)	splice site	probably null
R6701:Nup153	UTSW	13	46,840,541 (GRCm39)	missense	probably benign	0.00
R6721:Nup153	UTSW	13	46,854,502 (GRCm39)	missense	probably damaging	0.98
R6737:Nup153	UTSW	13	46,842,682 (GRCm39)	missense	probably benign	0.08
R6789:Nup153	UTSW	13	46,870,792 (GRCm39)	missense	probably damaging	1.00
R6820:Nup153	UTSW	13	46,863,459 (GRCm39)	missense	probably benign	0.09
R6837:Nup153	UTSW	13	46,847,527 (GRCm39)	missense	probably damaging	1.00
R6913:Nup153	UTSW	13	46,853,192 (GRCm39)	missense	probably damaging	1.00
R7052:Nup153	UTSW	13	46,840,949 (GRCm39)	missense	probably benign	0.09
R7091:Nup153	UTSW	13	46,837,404 (GRCm39)	missense	probably benign
R7357:Nup153	UTSW	13	46,870,642 (GRCm39)	missense	probably benign	0.32
R7389:Nup153	UTSW	13	46,854,463 (GRCm39)	critical splice donor site	probably null
R7423:Nup153	UTSW	13	46,850,120 (GRCm39)	critical splice donor site	probably null
R7453:Nup153	UTSW	13	46,834,657 (GRCm39)	missense	probably damaging	1.00
R7611:Nup153	UTSW	13	46,840,798 (GRCm39)	missense	probably benign	0.01
R7876:Nup153	UTSW	13	46,835,084 (GRCm39)	missense	probably benign
R7909:Nup153	UTSW	13	46,847,056 (GRCm39)	missense	probably damaging	1.00
R7938:Nup153	UTSW	13	46,842,855 (GRCm39)	splice site	probably null
R8735:Nup153	UTSW	13	46,881,027 (GRCm39)	start gained	probably benign
R8804:Nup153	UTSW	13	46,840,635 (GRCm39)	missense	probably benign	0.04
R8916:Nup153	UTSW	13	46,863,462 (GRCm39)	nonsense	probably null
R9025:Nup153	UTSW	13	46,837,709 (GRCm39)	missense	probably benign	0.36
R9217:Nup153	UTSW	13	46,835,138 (GRCm39)	missense	probably damaging	1.00
R9390:Nup153	UTSW	13	46,840,642 (GRCm39)	missense	probably damaging	1.00
R9701:Nup153	UTSW	13	46,840,211 (GRCm39)	missense	probably benign	0.01
R9714:Nup153	UTSW	13	46,866,435 (GRCm39)	missense	possibly damaging	0.55

Posted On

2016-08-02