Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01595:Nup160'

93383

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 #

IGL01595

Quality Score

Status

Chromosome

Chromosomal Location

90507559-90566672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90560081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1269 (N1269D)

Ref Sequence

ENSEMBL: ENSMUSP00000059289 (fasta)

Gene Model

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

AlphaFold

Q9Z0W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000057481
AA Change: N1269D

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

SMART Domains

Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: N1269D

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	G	2: 22,968,181 (GRCm39)	M111V	probably damaging	Het
Adamts14	A	T	10: 61,041,252 (GRCm39)	H819Q	probably damaging	Het
Adamts7	T	A	9: 90,075,359 (GRCm39)	N1072K	probably benign	Het
Ahnak	T	A	19: 8,980,865 (GRCm39)	Y716*	probably null	Het
Arfgef3	T	C	10: 18,470,660 (GRCm39)	K1702E	possibly damaging	Het
BB014433	C	A	8: 15,092,499 (GRCm39)		probably null	Het
Bdnf	A	T	2: 109,554,273 (GRCm39)	K176*	probably null	Het
C2cd5	C	T	6: 142,963,748 (GRCm39)	R879H	probably damaging	Het
Capn11	T	A	17: 45,950,360 (GRCm39)	H327L	probably benign	Het
Ccdc68	A	G	18: 70,089,117 (GRCm39)	N220S	probably benign	Het
Cftr	T	C	6: 18,198,238 (GRCm39)		probably benign	Het
Clca3a2	G	A	3: 144,793,768 (GRCm39)	L296F	probably damaging	Het
Cubn	A	T	2: 13,330,027 (GRCm39)	L2618Q	probably benign	Het
Gfi1b	A	G	2: 28,501,429 (GRCm39)		probably null	Het
Gpr37	G	T	6: 25,669,572 (GRCm39)	T424N	probably damaging	Het
Kank3	G	A	17: 34,038,154 (GRCm39)		probably null	Het
Kcnh5	T	C	12: 74,945,101 (GRCm39)	Q716R	probably benign	Het
Kntc1	G	A	5: 123,941,758 (GRCm39)	M1817I	probably benign	Het
Krt79	T	G	15: 101,840,206 (GRCm39)	E330A	probably damaging	Het
Mapk15	C	A	15: 75,867,129 (GRCm39)	P82Q	probably benign	Het
Myh15	A	T	16: 48,993,312 (GRCm39)	D1649V	probably damaging	Het
Myo1d	T	C	11: 80,566,936 (GRCm39)	I326V	probably benign	Het
Nek9	A	T	12: 85,361,194 (GRCm39)	W504R	probably damaging	Het
Nlrp4c	T	A	7: 6,069,111 (GRCm39)	C337*	probably null	Het
Or52e3	A	G	7: 102,869,558 (GRCm39)	D211G	probably damaging	Het
Or56b2	T	C	7: 104,337,285 (GRCm39)	M21T	possibly damaging	Het
Or8c10	T	C	9: 38,279,346 (GRCm39)	V168A	probably benign	Het
Pde6a	A	G	18: 61,414,599 (GRCm39)	M36V	probably damaging	Het
Perp	A	G	10: 18,731,407 (GRCm39)	Q122R	probably damaging	Het
S100a7a	T	C	3: 90,565,107 (GRCm39)	Y101H	probably benign	Het
Sbk2	C	A	7: 4,960,712 (GRCm39)	V153L	possibly damaging	Het
Serpinb7	A	T	1: 107,356,052 (GRCm39)	N25I	probably damaging	Het
Tbx5	A	T	5: 119,978,903 (GRCm39)	D105V	probably damaging	Het
Trip6	T	A	5: 137,311,675 (GRCm39)	T101S	probably benign	Het
Ush2a	T	A	1: 188,386,921 (GRCm39)		probably null	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
IGL01791:Nup160	APN	2	90,534,197 (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

2013-12-09