Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02058:Nup160'

185302

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup160

Ensembl Gene

ENSMUSG00000051329

Gene Name

nucleoporin 160

Synonyms

Gtl1-13, 2810011M03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL02058

Quality Score

Status

Chromosome

Chromosomal Location

90507559-90566672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90560051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1259 (S1259P)

Ref Sequence

ENSEMBL: ENSMUSP00000059289 (fasta)

Gene Model

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

AlphaFold

Q9Z0W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000057481
AA Change: S1259P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: S1259P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126503

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	A	2: 69,073,842 (GRCm39)	A1228S	probably damaging	Het
Adamts12	G	A	15: 11,215,696 (GRCm39)	R239K	probably benign	Het
Akap6	A	G	12: 53,187,338 (GRCm39)	D1584G	probably damaging	Het
Asns	A	G	6: 7,685,184 (GRCm39)	C158R	probably damaging	Het
Atr	T	C	9: 95,753,540 (GRCm39)	L714P	probably damaging	Het
Ccdc126	G	T	6: 49,311,134 (GRCm39)	E47D	probably benign	Het
Cemip	T	C	7: 83,646,500 (GRCm39)	S183G	probably damaging	Het
Cntn3	A	G	6: 102,176,321 (GRCm39)		probably benign	Het
Cyp11b2	G	T	15: 74,725,038 (GRCm39)	N270K	probably benign	Het
Ephx2	A	G	14: 66,341,173 (GRCm39)		probably null	Het
Fcho2	G	A	13: 98,867,414 (GRCm39)	T683I	probably damaging	Het
Grm7	G	A	6: 111,335,278 (GRCm39)	C563Y	probably damaging	Het
Hmcn1	T	C	1: 150,579,932 (GRCm39)	N1935S	probably benign	Het
Hus1b	A	G	13: 31,130,900 (GRCm39)	L253S	probably benign	Het
Kmt5b	T	C	19: 3,843,181 (GRCm39)	Y93H	probably damaging	Het
Krt73	A	T	15: 101,710,456 (GRCm39)	S93T	probably benign	Het
Lrp8	T	C	4: 107,727,306 (GRCm39)	V917A	probably benign	Het
Map2k6	C	T	11: 110,383,409 (GRCm39)	T106M	probably damaging	Het
Ncor1	A	G	11: 62,235,463 (GRCm39)	S664P	probably damaging	Het
Nmt1	C	T	11: 102,943,116 (GRCm39)	T157I	probably benign	Het
Pak1	C	T	7: 97,560,322 (GRCm39)	A523V	probably damaging	Het
Parpbp	A	C	10: 87,979,898 (GRCm39)	S19R	probably benign	Het
Pdzd2	G	T	15: 12,376,382 (GRCm39)	T1251N	possibly damaging	Het
Phaf1	T	A	8: 105,966,341 (GRCm39)	I105N	probably damaging	Het
Pitpnm3	A	T	11: 72,010,965 (GRCm39)	N22K	probably benign	Het
Pkn1	G	T	8: 84,407,854 (GRCm39)	C418*	probably null	Het
Pkn2	A	G	3: 142,509,424 (GRCm39)	F723L	probably damaging	Het
Pkp4	C	T	2: 59,142,073 (GRCm39)	R459*	probably null	Het
Prex1	A	C	2: 166,427,103 (GRCm39)	S871A	probably benign	Het
Ptprz1	A	G	6: 23,002,502 (GRCm39)	T1531A	probably benign	Het
Rad1	C	A	15: 10,493,361 (GRCm39)	Q263K	probably benign	Het
Sh2d6	C	A	6: 72,490,961 (GRCm39)	G307*	probably null	Het
Slc52a3	T	A	2: 151,847,811 (GRCm39)	N306K	probably damaging	Het
Spock3	A	T	8: 63,698,232 (GRCm39)	R195*	probably null	Het
Stil	A	G	4: 114,871,359 (GRCm39)	S310G	probably benign	Het
Wbp1l	T	A	19: 46,640,959 (GRCm39)	C80*	probably null	Het
Wnt2b	A	G	3: 104,854,408 (GRCm39)	V350A	probably benign	Het

Other mutations in Nup160

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Nup160	APN	2	90,523,450 (GRCm39)	missense	probably damaging	1.00
IGL00938:Nup160	APN	2	90,563,171 (GRCm39)	missense	probably damaging	1.00
IGL01111:Nup160	APN	2	90,563,553 (GRCm39)	missense	probably benign	0.00
IGL01140:Nup160	APN	2	90,530,909 (GRCm39)	missense	possibly damaging	0.85
IGL01348:Nup160	APN	2	90,530,772 (GRCm39)	missense	probably benign	0.05
IGL01361:Nup160	APN	2	90,514,356 (GRCm39)	nonsense	probably null
IGL01595:Nup160	APN	2	90,560,081 (GRCm39)	missense	probably damaging	1.00
IGL01791:Nup160	APN	2	90,534,197 (GRCm39)	missense	probably damaging	1.00
IGL02147:Nup160	APN	2	90,534,285 (GRCm39)	missense	probably benign	0.17
IGL02250:Nup160	APN	2	90,539,214 (GRCm39)	missense	probably damaging	1.00
IGL02507:Nup160	APN	2	90,560,079 (GRCm39)	missense	probably benign	0.08
IGL03108:Nup160	APN	2	90,534,169 (GRCm39)	missense	probably benign
R0031:Nup160	UTSW	2	90,547,931 (GRCm39)	splice site	probably null
R0365:Nup160	UTSW	2	90,539,188 (GRCm39)	missense	probably benign	0.01
R0417:Nup160	UTSW	2	90,565,771 (GRCm39)	missense	possibly damaging	0.93
R0781:Nup160	UTSW	2	90,563,563 (GRCm39)	splice site	probably benign
R1037:Nup160	UTSW	2	90,524,246 (GRCm39)	missense	probably damaging	1.00
R1110:Nup160	UTSW	2	90,563,563 (GRCm39)	splice site	probably benign
R1459:Nup160	UTSW	2	90,520,494 (GRCm39)	missense	probably damaging	1.00
R1468:Nup160	UTSW	2	90,530,887 (GRCm39)	missense	probably benign
R1468:Nup160	UTSW	2	90,530,887 (GRCm39)	missense	probably benign
R1478:Nup160	UTSW	2	90,509,743 (GRCm39)	start gained	probably benign
R1565:Nup160	UTSW	2	90,552,405 (GRCm39)	missense	possibly damaging	0.62
R1617:Nup160	UTSW	2	90,509,843 (GRCm39)	missense	probably benign
R1647:Nup160	UTSW	2	90,540,432 (GRCm39)	missense	probably damaging	0.99
R1648:Nup160	UTSW	2	90,540,432 (GRCm39)	missense	probably damaging	0.99
R1702:Nup160	UTSW	2	90,514,302 (GRCm39)	missense	probably damaging	0.96
R1719:Nup160	UTSW	2	90,530,780 (GRCm39)	nonsense	probably null
R2448:Nup160	UTSW	2	90,552,401 (GRCm39)	missense	probably damaging	1.00
R3775:Nup160	UTSW	2	90,552,420 (GRCm39)	missense	probably benign
R3776:Nup160	UTSW	2	90,552,420 (GRCm39)	missense	probably benign
R4600:Nup160	UTSW	2	90,515,541 (GRCm39)	critical splice donor site	probably null
R4812:Nup160	UTSW	2	90,556,035 (GRCm39)	missense	probably damaging	1.00
R5075:Nup160	UTSW	2	90,530,518 (GRCm39)	missense	probably damaging	0.99
R5309:Nup160	UTSW	2	90,563,176 (GRCm39)	nonsense	probably null
R5312:Nup160	UTSW	2	90,563,176 (GRCm39)	nonsense	probably null
R5447:Nup160	UTSW	2	90,555,959 (GRCm39)	missense	possibly damaging	0.82
R5682:Nup160	UTSW	2	90,510,155 (GRCm39)	missense	probably benign	0.29
R5726:Nup160	UTSW	2	90,548,195 (GRCm39)	missense	probably damaging	1.00
R5771:Nup160	UTSW	2	90,553,740 (GRCm39)	missense	probably damaging	1.00
R5825:Nup160	UTSW	2	90,510,114 (GRCm39)	critical splice acceptor site	probably null
R5851:Nup160	UTSW	2	90,537,382 (GRCm39)	missense	probably benign
R5988:Nup160	UTSW	2	90,519,553 (GRCm39)	missense	probably damaging	1.00
R6151:Nup160	UTSW	2	90,520,449 (GRCm39)	nonsense	probably null
R6164:Nup160	UTSW	2	90,548,220 (GRCm39)	nonsense	probably null
R6356:Nup160	UTSW	2	90,542,279 (GRCm39)	splice site	probably null
R6379:Nup160	UTSW	2	90,532,753 (GRCm39)	nonsense	probably null
R6519:Nup160	UTSW	2	90,548,561 (GRCm39)	missense	probably damaging	0.99
R6755:Nup160	UTSW	2	90,530,800 (GRCm39)	missense	probably damaging	1.00
R6989:Nup160	UTSW	2	90,537,364 (GRCm39)	missense	probably benign	0.34
R7251:Nup160	UTSW	2	90,530,518 (GRCm39)	missense	probably damaging	0.99
R7256:Nup160	UTSW	2	90,553,699 (GRCm39)	missense	probably damaging	1.00
R7353:Nup160	UTSW	2	90,534,296 (GRCm39)	missense	probably damaging	0.99
R7546:Nup160	UTSW	2	90,515,402 (GRCm39)	missense	probably damaging	1.00
R7761:Nup160	UTSW	2	90,533,456 (GRCm39)	missense	probably benign
R7768:Nup160	UTSW	2	90,530,460 (GRCm39)	missense	probably damaging	1.00
R7959:Nup160	UTSW	2	90,544,239 (GRCm39)	critical splice donor site	probably null
R8525:Nup160	UTSW	2	90,548,440 (GRCm39)	critical splice donor site	probably null
R8726:Nup160	UTSW	2	90,563,545 (GRCm39)	missense	possibly damaging	0.86
R8745:Nup160	UTSW	2	90,530,463 (GRCm39)	missense	probably benign	0.03
R8989:Nup160	UTSW	2	90,548,208 (GRCm39)	missense	probably damaging	1.00
R9087:Nup160	UTSW	2	90,514,429 (GRCm39)	missense	probably benign	0.09
R9147:Nup160	UTSW	2	90,533,489 (GRCm39)	missense	probably damaging	1.00
R9148:Nup160	UTSW	2	90,533,489 (GRCm39)	missense	probably damaging	1.00
R9149:Nup160	UTSW	2	90,552,585 (GRCm39)	intron	probably benign
R9153:Nup160	UTSW	2	90,514,429 (GRCm39)	missense	possibly damaging	0.78
R9284:Nup160	UTSW	2	90,548,375 (GRCm39)	missense	possibly damaging	0.94
R9435:Nup160	UTSW	2	90,560,138 (GRCm39)	missense	probably damaging	1.00
R9537:Nup160	UTSW	2	90,560,088 (GRCm39)	missense	possibly damaging	0.80
R9695:Nup160	UTSW	2	90,538,486 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07