Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Nup58'

192357

Institutional Source

Beutler Lab

Gene Symbol

Nup58

Ensembl Gene

ENSMUSG00000063895

Gene Name

nucleoporin 58

Synonyms

Nupl1, 1700017F11Rik

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60442733-60488951 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 60482119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041905] [ENSMUST00000225111] [ENSMUST00000225311] [ENSMUST00000225805]

AlphaFold

Q8R332

Predicted Effect

probably benign
Transcript: ENSMUST00000041905

SMART Domains

Protein: ENSMUSP00000038716
Gene: ENSMUSG00000114797

Domain	Start	End	E-Value	Type
Pfam:Nucleoporin_FG2	3	587	1.5e-299	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224575

Predicted Effect

probably benign
Transcript: ENSMUST00000225111

Predicted Effect

probably benign
Transcript: ENSMUST00000225311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225572

Predicted Effect

probably benign
Transcript: ENSMUST00000225805

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,992,928 (GRCm39)	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 124,968,201 (GRCm39)		noncoding transcript	Het
Acsl3	T	C	1: 78,683,114 (GRCm39)		probably benign	Het
Acsl6	C	A	11: 54,220,792 (GRCm39)	T244K	probably damaging	Het
Adam26b	T	A	8: 43,974,000 (GRCm39)	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,223,248 (GRCm39)	T608M	probably damaging	Het
Aldh2	A	G	5: 121,716,404 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,599,436 (GRCm39)	T1890A	possibly damaging	Het
Capn7	C	T	14: 31,082,117 (GRCm39)	T441M	probably damaging	Het
Cd9	A	T	6: 125,441,367 (GRCm39)	C85S	probably damaging	Het
Chrm3	T	C	13: 9,928,794 (GRCm39)	T81A	probably damaging	Het
Ctif	A	G	18: 75,757,376 (GRCm39)		probably benign	Het
Dcc	T	A	18: 71,503,808 (GRCm39)	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,498,530 (GRCm39)	V422A	probably damaging	Het
Enthd1	A	G	15: 80,337,124 (GRCm39)	S437P	probably damaging	Het
Fads1	A	G	19: 10,171,464 (GRCm39)		probably benign	Het
Fat3	T	A	9: 15,856,176 (GRCm39)	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,392,473 (GRCm39)	V85E	possibly damaging	Het
Fcgbpl1	T	A	7: 27,853,772 (GRCm39)	C1579S	probably damaging	Het
Fem1b	T	C	9: 62,704,456 (GRCm39)	D268G	possibly damaging	Het
Focad	T	C	4: 88,327,225 (GRCm39)	L1772P	probably damaging	Het
Gtf3a	C	A	5: 146,888,723 (GRCm39)	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,342,957 (GRCm39)		probably null	Het
Herc2	T	A	7: 55,803,653 (GRCm39)	F2229L	probably benign	Het
Hs3st4	A	T	7: 123,996,080 (GRCm39)	I249L	probably benign	Het
Iqsec1	A	T	6: 90,786,752 (GRCm39)	Y7*	probably null	Het
Irag2	A	G	6: 145,083,341 (GRCm39)		probably benign	Het
Klk1b1	T	A	7: 43,619,750 (GRCm39)	M103K	probably benign	Het
Krt5	A	G	15: 101,619,020 (GRCm39)	V287A	probably benign	Het
Lgals12	T	A	19: 7,581,530 (GRCm39)	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,593,379 (GRCm39)	V264A	possibly damaging	Het
Lrp1b	T	C	2: 40,712,695 (GRCm39)	D3099G	probably damaging	Het
Mical3	G	A	6: 120,984,369 (GRCm39)	T169I	possibly damaging	Het
Muc21	A	C	17: 35,931,540 (GRCm39)		probably benign	Het
Myef2l	G	A	3: 10,154,613 (GRCm39)	V461I	possibly damaging	Het
Myh7b	A	C	2: 155,462,054 (GRCm39)	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nsd1	A	T	13: 55,361,872 (GRCm39)		probably null	Het
Or1j17	C	T	2: 36,578,259 (GRCm39)	L82F	probably damaging	Het
Or2t49	A	T	11: 58,392,502 (GRCm39)	S293R	probably damaging	Het
Or5h22	A	G	16: 58,895,270 (GRCm39)	Y58H	probably damaging	Het
Or5i1	T	A	2: 87,612,929 (GRCm39)	I15N	possibly damaging	Het
Or6c2b	T	C	10: 128,947,737 (GRCm39)	T186A	probably benign	Het
Pcnx2	A	G	8: 126,577,087 (GRCm39)	Y982H	probably damaging	Het
Pias3	T	C	3: 96,609,541 (GRCm39)	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,267,710 (GRCm39)	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,512,057 (GRCm39)	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,527,906 (GRCm39)		probably benign	Het
Pramel29	A	C	4: 143,935,162 (GRCm39)	I193S	probably damaging	Het
Proser3	T	C	7: 30,239,446 (GRCm39)	M553V	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Smurf2	A	T	11: 106,715,514 (GRCm39)	D664E	possibly damaging	Het
Spag9	G	A	11: 93,887,391 (GRCm39)	A99T	probably benign	Het
Stim1	T	G	7: 102,003,713 (GRCm39)	C49G	probably damaging	Het
Stk32c	T	C	7: 138,701,740 (GRCm39)	I238V	probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,372,464 (GRCm39)	E133V	probably null	Het
Tmem209	A	T	6: 30,497,867 (GRCm39)	C143S	probably benign	Het
Tnr	T	G	1: 159,679,600 (GRCm39)	N191K	probably benign	Het
Vars1	C	T	17: 35,217,198 (GRCm39)	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,767,041 (GRCm39)	S819G	probably benign	Het
Wls	T	C	3: 159,602,995 (GRCm39)	V136A	probably benign	Het
Ybx2	C	T	11: 69,830,887 (GRCm39)	S217L	probably benign	Het
Zfp82	T	C	7: 29,756,779 (GRCm39)	D37G	probably benign	Het

Other mutations in Nup58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Nup58	APN	14	60,480,026 (GRCm39)	missense	probably benign	0.01
IGL00693:Nup58	APN	14	60,475,969 (GRCm39)	missense	probably benign	0.10
IGL00725:Nup58	APN	14	60,480,889 (GRCm39)	missense	possibly damaging	0.84
IGL00969:Nup58	APN	14	60,466,365 (GRCm39)	splice site	probably benign
IGL03243:Nup58	APN	14	60,459,065 (GRCm39)	missense	probably benign	0.06
IGL03351:Nup58	APN	14	60,466,224 (GRCm39)	missense	probably benign	0.19
R0056:Nup58	UTSW	14	60,476,924 (GRCm39)	splice site	probably null
R0113:Nup58	UTSW	14	60,488,740 (GRCm39)	start gained	probably benign
R0201:Nup58	UTSW	14	60,482,065 (GRCm39)	missense	probably benign	0.32
R0830:Nup58	UTSW	14	60,480,931 (GRCm39)	missense	probably damaging	1.00
R0925:Nup58	UTSW	14	60,457,590 (GRCm39)	missense	probably damaging	0.99
R1004:Nup58	UTSW	14	60,484,930 (GRCm39)	splice site	probably benign
R1178:Nup58	UTSW	14	60,482,119 (GRCm39)	splice site	probably benign
R1181:Nup58	UTSW	14	60,482,119 (GRCm39)	splice site	probably benign
R1268:Nup58	UTSW	14	60,482,119 (GRCm39)	splice site	probably benign
R1388:Nup58	UTSW	14	60,482,119 (GRCm39)	splice site	probably benign
R1411:Nup58	UTSW	14	60,482,119 (GRCm39)	splice site	probably benign
R1442:Nup58	UTSW	14	60,469,992 (GRCm39)	splice site	probably benign
R1626:Nup58	UTSW	14	60,480,076 (GRCm39)	nonsense	probably null
R1756:Nup58	UTSW	14	60,482,119 (GRCm39)	splice site	probably benign
R1853:Nup58	UTSW	14	60,481,996 (GRCm39)	missense	possibly damaging	0.81
R1915:Nup58	UTSW	14	60,475,980 (GRCm39)	missense	probably benign	0.00
R2160:Nup58	UTSW	14	60,476,957 (GRCm39)	missense	probably benign	0.15
R2211:Nup58	UTSW	14	60,470,089 (GRCm39)	missense	probably damaging	0.99
R2213:Nup58	UTSW	14	60,476,945 (GRCm39)	missense	probably benign	0.01
R2518:Nup58	UTSW	14	60,470,109 (GRCm39)	missense	probably damaging	1.00
R2519:Nup58	UTSW	14	60,460,808 (GRCm39)	missense	probably benign	0.23
R3914:Nup58	UTSW	14	60,469,596 (GRCm39)	missense	possibly damaging	0.76
R4302:Nup58	UTSW	14	60,484,875 (GRCm39)	missense	probably benign	0.44
R4626:Nup58	UTSW	14	60,476,004 (GRCm39)	missense	probably benign	0.24
R4705:Nup58	UTSW	14	60,488,664 (GRCm39)	missense	unknown
R4772:Nup58	UTSW	14	60,457,471 (GRCm39)	missense	probably benign	0.00
R6151:Nup58	UTSW	14	60,482,065 (GRCm39)	missense	possibly damaging	0.71
R6187:Nup58	UTSW	14	60,478,256 (GRCm39)	splice site	probably null
R6546:Nup58	UTSW	14	60,460,672 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTCTCACCTGCTGGAGTTGATG -3'
(R):5'- GGGAATAAGTGCTACTGTACGAAAGCC -3'

Sequencing Primer
(F):5'- TGTCAGAGCAGATGAGAGAGTAAG -3'
(R):5'- gcttagcattcagagattgcc -3'

Posted On

2014-05-14