Mutagenetix > Incidental Mutation

Incidental Mutation 'R1442:Nup58'

161564

Institutional Source

Beutler Lab

Gene Symbol

Nup58

Ensembl Gene

ENSMUSG00000063895

Gene Name

nucleoporin 58

Synonyms

Nupl1, 1700017F11Rik

MMRRC Submission

039497-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R1442 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60442733-60488951 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 60469992 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: ENSMUST00000102315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223713

Predicted Effect

probably benign
Transcript: ENSMUST00000225111

Predicted Effect

probably benign
Transcript: ENSMUST00000225311

Predicted Effect

probably benign
Transcript: ENSMUST00000225805

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.4%

Validation Efficiency

100% (71/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,839,833 (GRCm39)		probably benign	Het
Adamts7	T	A	9: 90,070,823 (GRCm39)	I648N	probably damaging	Het
Akap13	T	A	7: 75,385,526 (GRCm39)	F2252I	probably damaging	Het
Akr1c6	A	T	13: 4,507,159 (GRCm39)	H314L	probably damaging	Het
Anxa3	T	A	5: 96,976,549 (GRCm39)		probably null	Het
Apob	T	G	12: 8,036,165 (GRCm39)	F298V	probably benign	Het
Atp8a2	A	C	14: 60,097,772 (GRCm39)		probably benign	Het
Atp8b5	A	T	4: 43,334,313 (GRCm39)	T360S	probably damaging	Het
BC051665	A	T	13: 60,932,555 (GRCm39)	N43K	probably benign	Het
Bicral	T	A	17: 47,112,650 (GRCm39)	H850L	probably benign	Het
C1qtnf1	A	G	11: 118,339,011 (GRCm39)	D227G	probably damaging	Het
C8a	T	A	4: 104,685,275 (GRCm39)	T323S	possibly damaging	Het
Cep89	T	C	7: 35,117,636 (GRCm39)		probably benign	Het
Cercam	G	T	2: 29,770,652 (GRCm39)	V408L	probably benign	Het
CN725425	G	A	15: 91,123,158 (GRCm39)	V76M	possibly damaging	Het
Cops7b	T	A	1: 86,532,835 (GRCm39)	M231K	probably benign	Het
Cpa2	T	A	6: 30,544,865 (GRCm39)		probably null	Het
Dab2ip	A	T	2: 35,600,268 (GRCm39)	I287F	probably damaging	Het
Defb10	A	T	8: 22,348,944 (GRCm39)	M1L	probably benign	Het
Dscam	C	A	16: 96,409,274 (GRCm39)	R1883L	possibly damaging	Het
Dsg4	T	A	18: 20,595,717 (GRCm39)	I640N	possibly damaging	Het
Duox2	G	C	2: 122,112,232 (GRCm39)	P1318R	probably benign	Het
Dzip3	T	C	16: 48,765,985 (GRCm39)	D466G	probably benign	Het
E230025N22Rik	T	A	18: 36,824,462 (GRCm39)		probably null	Het
E2f3	A	G	13: 30,102,652 (GRCm39)	L80P	probably damaging	Het
Eif2b2	T	C	12: 85,266,360 (GRCm39)	S9P	probably benign	Het
Etaa1	A	T	11: 17,897,201 (GRCm39)	D305E	probably benign	Het
Fads6	C	A	11: 115,188,235 (GRCm39)	R23L	probably benign	Het
Flrt2	T	C	12: 95,746,979 (GRCm39)	V439A	probably damaging	Het
Galm	A	C	17: 80,452,614 (GRCm39)	Q184P	probably damaging	Het
Gtse1	C	T	15: 85,744,303 (GRCm39)		probably benign	Het
Irf7	T	C	7: 140,843,935 (GRCm39)	T246A	probably damaging	Het
Kif28	A	G	1: 179,532,697 (GRCm39)	V639A	possibly damaging	Het
Klhdc8a	G	A	1: 132,230,385 (GRCm39)	A167T	possibly damaging	Het
Lrfn3	T	C	7: 30,059,469 (GRCm39)	H252R	probably benign	Het
Lzts1	G	T	8: 69,591,638 (GRCm39)	A170E	probably damaging	Het
Mphosph9	T	A	5: 124,403,461 (GRCm39)	I856F	possibly damaging	Het
Mroh2a	C	T	1: 88,160,075 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Myh3	A	G	11: 66,978,103 (GRCm39)	N392D	possibly damaging	Het
Naalad2	T	C	9: 18,262,328 (GRCm39)		probably benign	Het
Npc1	T	A	18: 12,328,106 (GRCm39)	M1068L	probably benign	Het
Or10c1	T	C	17: 37,522,595 (GRCm39)	T50A	probably benign	Het
Or4k40	A	T	2: 111,250,438 (GRCm39)	I286N	probably damaging	Het
Or8b1	A	T	9: 38,399,939 (GRCm39)	I205F	probably benign	Het
Or8s16	T	C	15: 98,211,068 (GRCm39)	Y121C	probably damaging	Het
Parp2	T	G	14: 51,056,732 (GRCm39)		probably null	Het
Ppp4r4	T	C	12: 103,564,504 (GRCm39)	V9A	probably damaging	Het
Ptprc	T	A	1: 138,000,050 (GRCm39)	D856V	probably damaging	Het
Ptpru	T	A	4: 131,535,580 (GRCm39)	T466S	probably benign	Het
Rhob	A	G	12: 8,549,325 (GRCm39)	V103A	possibly damaging	Het
Sec23ip	A	C	7: 128,378,510 (GRCm39)	S775R	probably benign	Het
Slit2	T	G	5: 48,395,725 (GRCm39)	D709E	probably damaging	Het
Smok2b	C	G	17: 13,454,390 (GRCm39)	I183M	probably damaging	Het
Smtnl1	T	A	2: 84,648,780 (GRCm39)	D158V	probably damaging	Het
Syne2	T	C	12: 75,993,489 (GRCm39)	I2087T	probably damaging	Het
Tada1	G	A	1: 166,214,319 (GRCm39)	R106H	possibly damaging	Het
Tecta	T	A	9: 42,243,778 (GRCm39)	I2025F	probably damaging	Het
Themis	T	C	10: 28,658,131 (GRCm39)	V386A	probably damaging	Het
Ubr5	G	A	15: 38,015,168 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,033,446 (GRCm39)	I134N	probably damaging	Het
Vegfa	G	A	17: 46,336,418 (GRCm39)	T56I	possibly damaging	Het
Vmn2r108	T	A	17: 20,692,623 (GRCm39)	K78*	probably null	Het
Vmn2r82	A	T	10: 79,215,201 (GRCm39)	T395S	probably benign	Het
Wbp2nl	T	C	15: 82,198,407 (GRCm39)	S315P	probably benign	Het
Zfp566	T	C	7: 29,777,344 (GRCm39)	Y279C	probably damaging	Het
Zmym2	T	C	14: 57,180,784 (GRCm39)	Y899H	probably damaging	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
R1626:Nup58	UTSW	14	60,480,076 (GRCm39)	nonsense	probably null
R1697:Nup58	UTSW	14	60,482,119 (GRCm39)	splice site	probably benign
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'- TGCAGCTAGGTGAACTGGCAATG -3'
(R):5'- GCTTGGGAGCTTGCTTCAGTTATCC -3'

Sequencing Primer
(F):5'- AGAGGAAGTCCTAGACTGTCTCC -3'
(R):5'- GTTATCCTCATCCTAAAAATGACAGC -3'

Posted On

2014-03-14