Mutagenetix > Incidental Mutation

Incidental Mutation 'R0201:Nupl1'

23671

Institutional Source

Beutler Lab

Gene Symbol

Nupl1

Ensembl Gene

ENSMUSG00000063895

Gene Name

nucleoporin like 1

Synonyms

1700017F11Rik

MMRRC Submission

038458-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R0201 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60184612-60251431 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60244616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 100 (F100L)

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
AA Change: F100L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038716
Gene: ENSMUSG00000114797
AA Change: F100L

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
AA Change: F100L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000225311
AA Change: F100L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225572

Predicted Effect

probably benign
Transcript: ENSMUST00000225805
AA Change: F100L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0922

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

97% (91/94)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,581,957		probably null	Het
Adamts16	T	A	13: 70,779,644	Q492L	possibly damaging	Het
Aplnr	A	G	2: 85,137,177	D182G	probably damaging	Het
Arnt2	G	T	7: 84,361,659	S3*	probably null	Het
Asxl3	T	C	18: 22,523,154	V1407A	probably benign	Het
Atg13	A	T	2: 91,684,762		probably null	Het
Atm	A	T	9: 53,454,279		probably benign	Het
Birc6	T	G	17: 74,609,327	V1746G	possibly damaging	Het
Cbln1	G	T	8: 87,472,113	T43K	probably benign	Het
Cbx5	T	C	15: 103,199,700	T173A	probably damaging	Het
Cc2d2a	A	G	5: 43,737,512	Y1437C	probably damaging	Het
Ccdc78	C	A	17: 25,789,236		probably benign	Het
Cd2bp2	A	G	7: 127,193,828	Y341H	probably damaging	Het
Cdhr5	T	A	7: 141,276,378	D88V	probably damaging	Het
Ces1f	T	A	8: 93,267,329	T275S	probably null	Het
Clca4a	T	C	3: 144,960,717	N458S	probably benign	Het
Cog5	A	G	12: 31,839,841	K521R	probably damaging	Het
Csf2ra	T	A	19: 61,225,568	T305S	probably benign	Het
Csmd3	T	A	15: 47,619,729		probably benign	Het
Cts6	T	A	13: 61,201,499	R132*	probably null	Het
D5Ertd579e	G	T	5: 36,616,465	N195K	probably damaging	Het
Ddx1	A	G	12: 13,223,808	V606A	probably damaging	Het
Dip2b	G	A	15: 100,186,147	D884N	probably damaging	Het
Ehhadh	A	G	16: 21,773,493		probably null	Het
Enpp1	T	A	10: 24,653,917	T608S	probably benign	Het
Fancm	T	C	12: 65,101,632	Y674H	probably damaging	Het
Fat4	T	A	3: 38,891,596	V1546D	probably damaging	Het
Fsd1	G	A	17: 55,990,522	A158T	probably benign	Het
Fzd2	T	A	11: 102,606,122	M464K	probably damaging	Het
Gjc2	A	G	11: 59,177,590	F22S	possibly damaging	Het
Gm13101	T	C	4: 143,964,890	E421G	probably damaging	Het
Gria2	T	C	3: 80,707,838	Y445C	probably damaging	Het
Hsdl1	T	A	8: 119,566,256	I147F	possibly damaging	Het
Ifi44	T	C	3: 151,745,636	Y226C	probably damaging	Het
Il16	A	G	7: 83,722,308	C97R	probably damaging	Het
Impg1	A	T	9: 80,345,561	S369T	probably damaging	Het
Jmjd1c	A	G	10: 67,219,109	T390A	unknown	Het
Lgi1	A	G	19: 38,301,293	E269G	possibly damaging	Het
Lrp6	G	T	6: 134,450,897	Y1577*	probably null	Het
Lrrc74a	G	T	12: 86,761,773		probably benign	Het
Man1c1	A	T	4: 134,640,398		probably null	Het
Map1lc3b	A	C	8: 121,590,550	Q9P	possibly damaging	Het
Mboat1	G	A	13: 30,202,375	R124H	probably benign	Het
Mcu	A	G	10: 59,456,677	L60P	probably damaging	Het
Mrs2	G	T	13: 25,018,534	Q75K	probably benign	Het
Muc2	CGTG	CGTGTG	7: 141,699,185		probably null	Het
Neb	G	A	2: 52,206,878		probably benign	Het
Nlrp2	C	T	7: 5,328,329	G356D	probably benign	Het
Notch3	A	G	17: 32,156,148		probably benign	Het
Npr2	A	C	4: 43,641,617	S474R	probably damaging	Het
Osbpl6	A	C	2: 76,546,042	D87A	possibly damaging	Het
Pabpc2	A	T	18: 39,775,307	M542L	probably benign	Het
Papln	A	G	12: 83,783,027		probably benign	Het
Parpbp	T	C	10: 88,092,896	I561V	possibly damaging	Het
Pcdhb13	C	T	18: 37,442,581	A4V	probably benign	Het
Pelp1	T	C	11: 70,395,704	T533A	possibly damaging	Het
Poldip3	T	A	15: 83,135,296	M182L	probably benign	Het
Por	T	C	5: 135,731,178	S240P	possibly damaging	Het
Pramef20	A	T	4: 144,377,273		probably benign	Het
Prss22	A	T	17: 23,996,301	V167D	probably damaging	Het
Prss37	A	C	6: 40,516,349	L61R	probably damaging	Het
Psmd1	C	T	1: 86,118,616	T702M	probably benign	Het
Pxdn	G	T	12: 30,002,431	G869V	possibly damaging	Het
Rabgap1l	A	G	1: 160,453,745		probably benign	Het
Rapgef6	T	C	11: 54,619,941	V228A	probably damaging	Het
Rnf169	T	C	7: 99,926,003	R462G	possibly damaging	Het
Rnft2	A	G	5: 118,194,680		probably benign	Het
Sgo2b	T	C	8: 63,926,636	D1054G	probably benign	Het
Sh3bgr	T	C	16: 96,228,517		probably benign	Het
Slc12a4	A	G	8: 105,945,350	V910A	possibly damaging	Het
Slc6a12	A	T	6: 121,355,372	I222F	probably benign	Het
Spty2d1	G	A	7: 46,997,901	R427*	probably null	Het
Ssc5d	A	G	7: 4,944,663	T1339A	probably benign	Het
Sspo	A	C	6: 48,455,752	E854A	possibly damaging	Het
Stx7	A	G	10: 24,185,079		probably benign	Het
Styk1	A	T	6: 131,301,730		probably benign	Het
Tex33	T	A	15: 78,378,828	M209L	probably damaging	Het
Tmem163	T	G	1: 127,668,637		probably benign	Het
Tmppe	C	CT	9: 114,404,639		probably null	Het
Tmx2	A	G	2: 84,673,082	V229A	probably benign	Het
Top2b	T	C	14: 16,383,174	L54P	probably damaging	Het
Trim62	A	T	4: 128,902,550	Y280F	probably benign	Het
Tssk4	A	T	14: 55,651,559	K181*	probably null	Het
Tssk4	A	T	14: 55,651,560	K181M	probably damaging	Het
Ubn1	A	G	16: 5,064,614	D313G	probably damaging	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Ugt1a10	C	T	1: 88,218,249	P473L	probably damaging	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
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
R1697:Nupl1	UTSW	14	60244670	splice site	probably benign
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'- GGGTATTCGCTCGCTAACTGGAAAA -3'
(R):5'- GGGAATAAGTGCTACTGTACGAAAGCC -3'

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

Posted On

2013-04-16