Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Nupl1'

192357

Institutional Source

Beutler Lab

Gene Symbol

Nupl1

Ensembl Gene

ENSMUSG00000063895

Gene Name

nucleoporin like 1

Synonyms

1700017F11Rik

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60184612-60251431 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 60244670 bp (GRCm38)

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: 60,845,114	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 125,369,029		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,154,347	C1579S	probably damaging	Het
Acsl3	T	C	1: 78,705,397		probably benign	Het
Acsl6	C	A	11: 54,329,966	T244K	probably damaging	Het
Adam26b	T	A	8: 43,520,963	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,517,611	T608M	probably damaging	Het
Aldh2	A	G	5: 121,578,341		probably null	Het
Alms1	A	G	6: 85,622,454	T1890A	possibly damaging	Het
C87977	A	C	4: 144,208,592	I193S	probably damaging	Het
Capn7	C	T	14: 31,360,160	T441M	probably damaging	Het
Cd9	A	T	6: 125,464,404	C85S	probably damaging	Het
Chrm3	T	C	13: 9,878,758	T81A	probably damaging	Het
Ctif	A	G	18: 75,624,305		probably benign	Het
Dcc	T	A	18: 71,370,737	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,679,780	V422A	probably damaging	Het
Enthd1	A	G	15: 80,452,923	S437P	probably damaging	Het
Fads1	A	G	19: 10,194,100		probably benign	Het
Fat3	T	A	9: 15,944,880	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,502,461	V85E	possibly damaging	Het
Fem1b	T	C	9: 62,797,174	D268G	possibly damaging	Het
Focad	T	C	4: 88,408,988	L1772P	probably damaging	Het
Gm9573	A	C	17: 35,620,648		probably benign	Het
Gm9833	G	A	3: 10,089,553	V461I	possibly damaging	Het
Gtf3a	C	A	5: 146,951,913	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,621,000		probably null	Het
Herc2	T	A	7: 56,153,905	F2229L	probably benign	Het
Hs3st4	A	T	7: 124,396,857	I249L	probably benign	Het
Iqsec1	A	T	6: 90,809,770	Y7*	probably null	Het
Klk1b1	T	A	7: 43,970,326	M103K	probably benign	Het
Krt5	A	G	15: 101,710,585	V287A	probably benign	Het
Lgals12	T	A	19: 7,604,165	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,604,940	V264A	possibly damaging	Het
Lrmp	A	G	6: 145,137,615		probably benign	Het
Lrp1b	T	C	2: 40,822,683	D3099G	probably damaging	Het
Mical3	G	A	6: 121,007,408	T169I	possibly damaging	Het
Myh7b	A	C	2: 155,620,134	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nsd1	A	T	13: 55,214,059		probably null	Het
Olfr152	T	A	2: 87,782,585	I15N	possibly damaging	Het
Olfr190	A	G	16: 59,074,907	Y58H	probably damaging	Het
Olfr331	A	T	11: 58,501,676	S293R	probably damaging	Het
Olfr346	C	T	2: 36,688,247	L82F	probably damaging	Het
Olfr769	T	C	10: 129,111,868	T186A	probably benign	Het
Pcnx2	A	G	8: 125,850,348	Y982H	probably damaging	Het
Pias3	T	C	3: 96,702,225	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,376,884	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,545,623	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,561,472		probably benign	Het
Proser3	T	C	7: 30,540,021	M553V	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Smurf2	A	T	11: 106,824,688	D664E	possibly damaging	Het
Spag9	G	A	11: 93,996,565	A99T	probably benign	Het
Stim1	T	G	7: 102,354,506	C49G	probably damaging	Het
Stk32c	T	C	7: 139,121,824	I238V	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,544,899	E133V	probably null	Het
Tmem209	A	T	6: 30,497,868	C143S	probably benign	Het
Tnr	T	G	1: 159,852,030	N191K	probably benign	Het
Vars	C	T	17: 34,998,222	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,548,060	S819G	probably benign	Het
Wls	T	C	3: 159,897,358	V136A	probably benign	Het
Ybx2	C	T	11: 69,940,061	S217L	probably benign	Het
Zfp82	T	C	7: 30,057,354	D37G	probably benign	Het

Other mutations in Nupl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Nupl1	APN	14	60242577	missense	probably benign	0.01
IGL00693:Nupl1	APN	14	60238520	missense	probably benign	0.10
IGL00725:Nupl1	APN	14	60243440	missense	possibly damaging	0.84
IGL00969:Nupl1	APN	14	60228916	splice site	probably benign
IGL03243:Nupl1	APN	14	60221616	missense	probably benign	0.06
IGL03351:Nupl1	APN	14	60228775	missense	probably benign	0.19
R0056:Nupl1	UTSW	14	60239475	splice site	probably null
R0113:Nupl1	UTSW	14	60251291	start gained	probably benign
R0201:Nupl1	UTSW	14	60244616	missense	probably benign	0.32
R0830:Nupl1	UTSW	14	60243482	missense	probably damaging	1.00
R0925:Nupl1	UTSW	14	60220141	missense	probably damaging	0.99
R1004:Nupl1	UTSW	14	60247481	splice site	probably benign
R1178:Nupl1	UTSW	14	60244670	splice site	probably benign
R1181:Nupl1	UTSW	14	60244670	splice site	probably benign
R1268:Nupl1	UTSW	14	60244670	splice site	probably benign
R1388:Nupl1	UTSW	14	60244670	splice site	probably benign
R1411:Nupl1	UTSW	14	60244670	splice site	probably benign
R1442:Nupl1	UTSW	14	60232543	splice site	probably benign
R1626:Nupl1	UTSW	14	60242627	nonsense	probably null
R1756:Nupl1	UTSW	14	60244670	splice site	probably benign
R1853:Nupl1	UTSW	14	60244547	missense	possibly damaging	0.81
R1915:Nupl1	UTSW	14	60238531	missense	probably benign	0.00
R2160:Nupl1	UTSW	14	60239508	missense	probably benign	0.15
R2211:Nupl1	UTSW	14	60232640	missense	probably damaging	0.99
R2213:Nupl1	UTSW	14	60239496	missense	probably benign	0.01
R2518:Nupl1	UTSW	14	60232660	missense	probably damaging	1.00
R2519:Nupl1	UTSW	14	60223359	missense	probably benign	0.23
R3914:Nupl1	UTSW	14	60232147	missense	possibly damaging	0.76
R4302:Nupl1	UTSW	14	60247426	missense	probably benign	0.44
R4626:Nupl1	UTSW	14	60238555	missense	probably benign	0.24
R4705:Nupl1	UTSW	14	60251215	missense	unknown
R4772:Nupl1	UTSW	14	60220022	missense	probably benign	0.00
R6151:Nupl1	UTSW	14	60244616	missense	possibly damaging	0.71
R6187:Nupl1	UTSW	14	60240807	splice site	probably null
R6546:Nupl1	UTSW	14	60223223	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