Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01791:Nup160'

155213

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 #

IGL01791

Quality Score

Status

Chromosome

Chromosomal Location

90507559-90566672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90534197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 674 (G674D)

Ref Sequence

ENSEMBL: ENSMUSP00000059289 (fasta)

Gene Model

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

AlphaFold

Q9Z0W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000057481
AA Change: G674D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: G674D

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: ENSMUST00000130629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136739

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap32	A	G	9: 32,158,486 (GRCm39)	I174V	probably damaging	Het
Asb15	T	A	6: 24,567,211 (GRCm39)	C511S	probably damaging	Het
Atr	C	T	9: 95,803,834 (GRCm39)	A1896V	probably benign	Het
B3gnt4	C	T	5: 123,649,162 (GRCm39)	R176C	probably damaging	Het
Brf1	T	C	12: 112,926,095 (GRCm39)	D557G	probably benign	Het
Catsperg2	T	A	7: 29,404,090 (GRCm39)		probably null	Het
Cdip1	A	G	16: 4,586,729 (GRCm39)	I122T	probably damaging	Het
Ctrl	C	T	8: 106,659,199 (GRCm39)	E147K	probably benign	Het
Dennd2c	T	C	3: 103,073,741 (GRCm39)	V829A	probably benign	Het
Dync1h1	T	A	12: 110,625,364 (GRCm39)	L3874Q	probably damaging	Het
Dynlt4	T	A	4: 116,985,794 (GRCm39)	S206T	probably damaging	Het
Gm10521	T	C	1: 171,723,964 (GRCm39)	S92P	unknown	Het
Gm57858	T	C	3: 36,089,416 (GRCm39)		probably benign	Het
Gzf1	G	A	2: 148,525,981 (GRCm39)	A151T	probably benign	Het
Hddc2	A	G	10: 31,202,022 (GRCm39)	Y123C	probably damaging	Het
Hyal4	T	C	6: 24,763,894 (GRCm39)		probably benign	Het
Ighv16-1	T	C	12: 114,032,589 (GRCm39)	N71S	probably benign	Het
Ing2	A	T	8: 48,122,070 (GRCm39)	S159R	probably benign	Het
Itga1	A	T	13: 115,124,197 (GRCm39)	N698K	probably benign	Het
Lemd2	A	T	17: 27,409,702 (GRCm39)	I483N	probably damaging	Het
Lyst	T	C	13: 13,809,887 (GRCm39)	L519P	probably damaging	Het
Mapk10	T	C	5: 103,144,514 (GRCm39)	N101S	probably damaging	Het
Nfatc4	A	T	14: 56,069,695 (GRCm39)	E164V	probably null	Het
Nfkb2	T	G	19: 46,298,278 (GRCm39)		probably benign	Het
Nox3	A	G	17: 3,733,218 (GRCm39)	V231A	possibly damaging	Het
Or1l4b	A	T	2: 37,036,548 (GRCm39)	D108V	probably damaging	Het
Or56b1	C	T	7: 104,285,682 (GRCm39)	T267I	possibly damaging	Het
Otoa	T	G	7: 120,755,072 (GRCm39)	V998G	probably benign	Het
Pcnx3	A	T	19: 5,723,295 (GRCm39)	M1300K	probably benign	Het
Pde4b	A	G	4: 102,448,127 (GRCm39)		probably benign	Het
Rfc1	T	A	5: 65,420,488 (GRCm39)	K1104I	probably benign	Het
Serpina1f	G	T	12: 103,659,761 (GRCm39)	Q174K	probably damaging	Het
Serping1	T	C	2: 84,603,721 (GRCm39)	N107D	possibly damaging	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Surf6	A	G	2: 26,789,759 (GRCm39)	S94P	probably benign	Het
Tigd4	T	A	3: 84,502,052 (GRCm39)	I323N	probably damaging	Het
Vmn2r28	T	C	7: 5,491,161 (GRCm39)	D362G	probably benign	Het
Wdfy3	A	G	5: 102,085,278 (GRCm39)	S739P	probably damaging	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
IGL02058:Nup160	APN	2	90,560,051 (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

2014-02-04