Mutagenetix > Incidental Mutation

Incidental Mutation 'R7256:Nup160'

564246

Institutional Source

Beutler Lab

Gene Symbol

Nup160

Ensembl Gene

ENSMUSG00000051329

Gene Name

nucleoporin 160

Synonyms

Gtl1-13, 2810011M03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R7256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90677215-90736328 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90723355 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1143 (I1143N)

Ref Sequence

ENSEMBL: ENSMUSP00000059289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057481]

AlphaFold

Q9Z0W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000057481
AA Change: I1143N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: I1143N

Domain	Start	End	E-Value	Type
Pfam:Nup160	28	543	9.9e-134	PFAM
low complexity region	695	710	N/A	INTRINSIC
low complexity region	1141	1152	N/A	INTRINSIC
low complexity region	1302	1315	N/A	INTRINSIC

Meta Mutation Damage Score

0.2339

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,863,035	Y790H	probably damaging	Het
Bend3	A	C	10: 43,493,671	S7R	probably benign	Het
Ccdc106	A	G	7: 5,060,326	T277A	probably damaging	Het
Ccdc162	G	A	10: 41,556,001	A1832V	probably damaging	Het
Ccser1	A	G	6: 61,311,867	E338G	probably benign	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cecr2	T	C	6: 120,762,529	S1406P	probably benign	Het
Cep290	A	G	10: 100,546,498	T208A	probably damaging	Het
Cep85l	A	C	10: 53,296,255	C569W	probably damaging	Het
Ces5a	G	A	8: 93,499,526	T527I	probably benign	Het
Clca2	T	A	3: 145,090,847	I200F	probably damaging	Het
Cmas	G	A	6: 142,770,586	D251N	probably damaging	Het
Ctcfl	G	T	2: 173,118,475	A105E	probably benign	Het
Dclk2	C	T	3: 86,793,259	R638H	probably damaging	Het
Dctn6	A	T	8: 34,090,808	I170N	probably damaging	Het
Dnah2	T	C	11: 69,431,094	Y3800C	probably damaging	Het
Dsg2	G	A	18: 20,591,931	V465I	possibly damaging	Het
Dzip1	T	C	14: 118,885,646	T646A	probably benign	Het
Etv4	T	A	11: 101,784,325		probably null	Het
Exoc3l2	T	C	7: 19,484,703	V549A	unknown	Het
Ficd	G	T	5: 113,738,819	A352S	probably damaging	Het
Fry	T	G	5: 150,466,786	I179S		Het
Galntl5	A	G	5: 25,195,300	H109R	probably benign	Het
Garem1	C	A	18: 21,148,754	G182W	probably damaging	Het
Gm10696	T	C	3: 94,176,360	E48G	probably benign	Het
Gm13078	T	A	4: 143,726,279	D93E	probably benign	Het
Gm5916	A	T	9: 36,120,989	Y50N	possibly damaging	Het
Gtf2h2	A	T	13: 100,479,201	F271I	probably benign	Het
Hivep2	G	T	10: 14,129,101	S481I	probably benign	Het
Homez	T	A	14: 54,857,420	Q277L	probably damaging	Het
Hoxb4	C	A	11: 96,319,896		probably null	Het
Igll1	A	G	16: 16,861,093	S118P	probably damaging	Het
Ikzf2	A	C	1: 69,578,053		probably null	Het
Kif5b	A	G	18: 6,225,340	V230A	probably damaging	Het
Ldlr	T	A	9: 21,745,744	V719E	probably benign	Het
Lsm7	G	A	10: 80,853,731	R66W	possibly damaging	Het
Map3k13	T	A	16: 21,892,238	D90E	probably benign	Het
Mmrn1	A	G	6: 60,976,114	K460E	probably damaging	Het
Myh10	A	C	11: 68,790,689	N1061H	probably damaging	Het
Nepn	A	G	10: 52,400,993	Q275R	probably benign	Het
Noc3l	A	T	19: 38,812,356	D227E	probably benign	Het
Nploc4	G	T	11: 120,428,550	S61R	probably benign	Het
Nr4a2	T	C	2: 57,112,369	Y24C	probably damaging	Het
Olfr1097	A	G	2: 86,890,612	S188P	probably damaging	Het
Olfr1234	A	T	2: 89,362,494	Y312N	probably benign	Het
Olfr294	G	T	7: 86,615,665	H327N	probably benign	Het
Olfr895	T	A	9: 38,268,708	M57K	probably damaging	Het
Papola	T	A	12: 105,809,345	C204S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pgap1	A	T	1: 54,493,207		probably null	Het
Pitrm1	A	G	13: 6,556,597	H229R	probably damaging	Het
Plcl1	A	G	1: 55,698,218	Q906R	probably benign	Het
Ppfia3	T	C	7: 45,341,743	N1018S	probably benign	Het
Prkd1	A	G	12: 50,388,342	V534A	possibly damaging	Het
Pygm	A	T	19: 6,385,896	I126F	probably benign	Het
Rag1	T	C	2: 101,642,070	Y909C	probably damaging	Het
Rasgrf2	G	A	13: 91,884,518	Q560*	probably null	Het
Rbp3	A	T	14: 33,962,583	I1190F	possibly damaging	Het
Reln	T	C	5: 21,978,923	K1693E	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rsph3a	A	G	17: 7,946,170	T121A	probably benign	Het
Rufy3	A	G	5: 88,614,947	N112S	possibly damaging	Het
Ryr3	G	A	2: 112,672,246	Q3548*	probably null	Het
Sardh	A	T	2: 27,218,812	V637D	probably benign	Het
Spata16	T	C	3: 26,667,867	V179A	probably benign	Het
Tbc1d30	G	A	10: 121,288,965	T319I	probably damaging	Het
Tlr2	T	A	3: 83,837,606	Q390L	possibly damaging	Het
Tmem53	C	T	4: 117,252,040		probably null	Het
Vmn1r113	T	A	7: 20,787,445	I54N	probably damaging	Het
Vmn1r223	A	C	13: 23,249,866	Y210S	probably damaging	Het
Zbbx	A	T	3: 75,039,898	H670Q	probably benign	Het

Other mutations in Nup160

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Nup160	APN	2	90693106	missense	probably damaging	1.00
IGL00938:Nup160	APN	2	90732827	missense	probably damaging	1.00
IGL01111:Nup160	APN	2	90733209	missense	probably benign	0.00
IGL01140:Nup160	APN	2	90700565	missense	possibly damaging	0.85
IGL01348:Nup160	APN	2	90700428	missense	probably benign	0.05
IGL01361:Nup160	APN	2	90684012	nonsense	probably null
IGL01595:Nup160	APN	2	90729737	missense	probably damaging	1.00
IGL01791:Nup160	APN	2	90703853	missense	probably damaging	1.00
IGL02058:Nup160	APN	2	90729707	missense	probably damaging	1.00
IGL02147:Nup160	APN	2	90703941	missense	probably benign	0.17
IGL02250:Nup160	APN	2	90708870	missense	probably damaging	1.00
IGL02507:Nup160	APN	2	90729735	missense	probably benign	0.08
IGL03108:Nup160	APN	2	90703825	missense	probably benign
R0031:Nup160	UTSW	2	90717587	splice site	probably null
R0365:Nup160	UTSW	2	90708844	missense	probably benign	0.01
R0417:Nup160	UTSW	2	90735427	missense	possibly damaging	0.93
R0781:Nup160	UTSW	2	90733219	splice site	probably benign
R1037:Nup160	UTSW	2	90693902	missense	probably damaging	1.00
R1110:Nup160	UTSW	2	90733219	splice site	probably benign
R1459:Nup160	UTSW	2	90690150	missense	probably damaging	1.00
R1468:Nup160	UTSW	2	90700543	missense	probably benign
R1468:Nup160	UTSW	2	90700543	missense	probably benign
R1478:Nup160	UTSW	2	90679399	start gained	probably benign
R1565:Nup160	UTSW	2	90722061	missense	possibly damaging	0.62
R1617:Nup160	UTSW	2	90679499	missense	probably benign
R1647:Nup160	UTSW	2	90710088	missense	probably damaging	0.99
R1648:Nup160	UTSW	2	90710088	missense	probably damaging	0.99
R1702:Nup160	UTSW	2	90683958	missense	probably damaging	0.96
R1719:Nup160	UTSW	2	90700436	nonsense	probably null
R2448:Nup160	UTSW	2	90722057	missense	probably damaging	1.00
R3775:Nup160	UTSW	2	90722076	missense	probably benign
R3776:Nup160	UTSW	2	90722076	missense	probably benign
R4600:Nup160	UTSW	2	90685197	critical splice donor site	probably null
R4812:Nup160	UTSW	2	90725691	missense	probably damaging	1.00
R5075:Nup160	UTSW	2	90700174	missense	probably damaging	0.99
R5309:Nup160	UTSW	2	90732832	nonsense	probably null
R5312:Nup160	UTSW	2	90732832	nonsense	probably null
R5447:Nup160	UTSW	2	90725615	missense	possibly damaging	0.82
R5682:Nup160	UTSW	2	90679811	missense	probably benign	0.29
R5726:Nup160	UTSW	2	90717851	missense	probably damaging	1.00
R5771:Nup160	UTSW	2	90723396	missense	probably damaging	1.00
R5825:Nup160	UTSW	2	90679770	critical splice acceptor site	probably null
R5851:Nup160	UTSW	2	90707038	missense	probably benign
R5988:Nup160	UTSW	2	90689209	missense	probably damaging	1.00
R6151:Nup160	UTSW	2	90690105	nonsense	probably null
R6164:Nup160	UTSW	2	90717876	nonsense	probably null
R6356:Nup160	UTSW	2	90711935	splice site	probably null
R6379:Nup160	UTSW	2	90702409	nonsense	probably null
R6519:Nup160	UTSW	2	90718217	missense	probably damaging	0.99
R6755:Nup160	UTSW	2	90700456	missense	probably damaging	1.00
R6989:Nup160	UTSW	2	90707020	missense	probably benign	0.34
R7251:Nup160	UTSW	2	90700174	missense	probably damaging	0.99
R7353:Nup160	UTSW	2	90703952	missense	probably damaging	0.99
R7546:Nup160	UTSW	2	90685058	missense	probably damaging	1.00
R7761:Nup160	UTSW	2	90703112	missense	probably benign
R7768:Nup160	UTSW	2	90700116	missense	probably damaging	1.00
R7959:Nup160	UTSW	2	90713895	critical splice donor site	probably null
R8525:Nup160	UTSW	2	90718096	critical splice donor site	probably null
R8726:Nup160	UTSW	2	90733201	missense	possibly damaging	0.86
R8745:Nup160	UTSW	2	90700119	missense	probably benign	0.03
R8989:Nup160	UTSW	2	90717864	missense	probably damaging	1.00
R9087:Nup160	UTSW	2	90684085	missense	probably benign	0.09
R9147:Nup160	UTSW	2	90703145	missense	probably damaging	1.00
R9148:Nup160	UTSW	2	90703145	missense	probably damaging	1.00
R9149:Nup160	UTSW	2	90722241	intron	probably benign
R9153:Nup160	UTSW	2	90684085	missense	possibly damaging	0.78
R9284:Nup160	UTSW	2	90718031	missense	possibly damaging	0.94
R9435:Nup160	UTSW	2	90729794	missense	probably damaging	1.00
R9537:Nup160	UTSW	2	90729744	missense	possibly damaging	0.80
R9695:Nup160	UTSW	2	90708142	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCCTTTGCTTGAGTCAGC -3'
(R):5'- AGTATCTCTGCCTTAGACCCAC -3'

Sequencing Primer
(F):5'- CGCGCACACATGAATGAATG -3'
(R):5'- GTATCTCTGCCTTAGACCCACCTATC -3'

Posted On

2019-06-26