Mutagenetix > Incidental Mutations

Incidental Mutation 'R2518:Nupl1'

254118

Institutional Source

Beutler Lab

Gene Symbol

Nupl1

Ensembl Gene

ENSMUSG00000063895

Gene Name

nucleoporin like 1

Synonyms

1700017F11Rik

MMRRC Submission

040422-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R2518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60184612-60251431 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60232660 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 334 (F334Y)

Ref Sequence

ENSEMBL: ENSMUSP00000153642 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000041905
AA Change: F334Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038716
Gene: ENSMUSG00000114797
AA Change: F334Y

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 damaging
Transcript: ENSMUST00000225111
AA Change: F334Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225311
AA Change: F334Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225805
AA Change: F334Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110034G24Rik	T	A	2: 132,750,527	S165T	probably damaging	Het
Adam18	A	G	8: 24,637,141	C480R	probably damaging	Het
Aftph	G	T	11: 20,725,797	T604K	probably damaging	Het
Bivm	T	C	1: 44,129,615	V279A	probably damaging	Het
C2cd2	G	A	16: 97,922,086	T77I	probably benign	Het
Ccdc146	T	C	5: 21,305,528	H527R	probably benign	Het
Cd226	A	G	18: 89,207,327	N116S	probably benign	Het
Cit	A	G	5: 115,987,046	K1612E	probably damaging	Het
Cmtr1	T	A	17: 29,681,980	Y663*	probably null	Het
Col3a1	T	A	1: 45,337,512		probably benign	Het
Copa	A	G	1: 172,119,901	N1095D	probably benign	Het
Cpne1	G	T	2: 156,073,971	A433E	probably damaging	Het
Cyfip1	C	T	7: 55,928,284	L1181F	probably damaging	Het
Dnajc6	T	A	4: 101,612,930	I220N	probably damaging	Het
Duxbl1	G	C	14: 25,987,748		probably benign	Het
Fam135b	C	T	15: 71,463,911	R478H	probably benign	Het
Fam91a1	T	A	15: 58,450,600	S734T	possibly damaging	Het
Fut10	T	G	8: 31,236,467	S417A	probably benign	Het
Gm9945	C	T	11: 53,480,336		probably benign	Het
Golga4	A	G	9: 118,556,612	E934G	probably damaging	Het
Gpat2	G	A	2: 127,428,291	V75M	probably damaging	Het
Hdac5	A	G	11: 102,197,136	V949A	probably damaging	Het
Hdgfl1	G	T	13: 26,769,749	L114I	probably benign	Het
Ifi27l2b	T	A	12: 103,455,824	M94L	unknown	Het
Irs2	C	A	8: 11,005,352	A1027S	probably benign	Het
Itga2	A	T	13: 114,881,042	C111S	probably damaging	Het
Khdrbs1	T	C	4: 129,720,747	T338A	probably benign	Het
Klk1	T	C	7: 44,220,737		probably null	Het
Kmt2b	T	C	7: 30,576,068	N1822S	probably benign	Het
Lrig3	T	C	10: 125,994,441	I136T	probably benign	Het
Lyar	T	A	5: 38,227,932	D105E	probably benign	Het
Mat1a	T	A	14: 41,122,512	D366E	probably benign	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Naip1	A	T	13: 100,423,219	D1092E	probably benign	Het
Neb	T	A	2: 52,249,511	K95*	probably null	Het
Nectin4	A	G	1: 171,380,208	D56G	probably benign	Het
Olfr1502	A	G	19: 13,862,309	N172S	probably damaging	Het
Olfr294	A	T	7: 86,616,187	F153I	probably benign	Het
Pde8a	C	A	7: 81,317,422	T437K	probably benign	Het
Ppp1r3a	A	T	6: 14,719,378	N512K	possibly damaging	Het
Pqlc2	A	G	4: 139,302,499	F74L	probably damaging	Het
Pramef8	A	G	4: 143,417,903	Q273R	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,067	D330G	probably damaging	Het
Ren1	G	A	1: 133,360,124	A399T	probably damaging	Het
Rnft2	G	T	5: 118,194,605		probably benign	Het
Sept14	A	T	5: 129,699,035	S27T	probably benign	Het
Shox2	T	C	3: 66,978,359	K128E	possibly damaging	Het
Skint1	T	C	4: 112,025,481	W241R	probably benign	Het
Slc24a4	T	A	12: 102,222,051	H134Q	probably benign	Het
Slc25a36	A	T	9: 97,079,071	L165Q	possibly damaging	Het
Slc35f1	A	G	10: 53,073,534	I240V	probably benign	Het
Tab2	G	A	10: 7,907,481	P679L	probably damaging	Het
Tarbp2	A	G	15: 102,518,557	E3G	possibly damaging	Het
Tas2r130	A	T	6: 131,630,073	I253K	probably damaging	Het
Timm44	A	C	8: 4,266,588	C319G	probably null	Het
Tjap1	A	T	17: 46,260,095	N165K	probably damaging	Het
Tmem63b	A	G	17: 45,666,154	I429T	probably benign	Het
Trabd2b	A	T	4: 114,599,903	D339V	probably damaging	Het
Tst	T	C	15: 78,405,833	M1V	probably null	Het
Ube4a	A	T	9: 44,948,137	N335K	probably benign	Het
Vps54	C	T	11: 21,306,394	T633M	probably benign	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zfp953	A	G	13: 67,347,939	Y13H	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
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
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
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'- AGTTGTTTGCACACAGCTACTA -3'
(R):5'- CCCAGCTATCGATTACACATTTCTTAC -3'

Sequencing Primer
(F):5'- AGGGATGTTACCTTGAGG -3'
(R):5'- AAGTCACTTGGTAATGTGCCC -3'

Posted On

2014-12-04