Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03108:Nup160'

419075

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 #

IGL03108

Quality Score

Status

Chromosome

Chromosomal Location

90507559-90566672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90534169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 665 (V665I)

Ref Sequence

ENSEMBL: ENSMUSP00000059289 (fasta)

Gene Model

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

AlphaFold

Q9Z0W3

Predicted Effect

probably benign
Transcript: ENSMUST00000057481
AA Change: V665I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: V665I

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	A	13: 81,707,648 (GRCm39)	V1253F	probably damaging	Het
Apbb2	A	G	5: 66,557,574 (GRCm39)	W296R	probably damaging	Het
Armh3	G	A	19: 45,808,792 (GRCm39)	T633I	probably damaging	Het
Btbd3	T	C	2: 138,126,043 (GRCm39)	V409A	possibly damaging	Het
C130050O18Rik	A	T	5: 139,400,820 (GRCm39)	D291V	probably damaging	Het
Catsper3	A	G	13: 55,955,848 (GRCm39)	N318D	probably benign	Het
Chd1	T	A	17: 15,945,543 (GRCm39)	D22E	possibly damaging	Het
Chrnb2	G	A	3: 89,670,681 (GRCm39)		probably benign	Het
Col24a1	G	A	3: 145,029,162 (GRCm39)	G550D	probably damaging	Het
Cryl1	T	C	14: 57,550,534 (GRCm39)	D110G	probably damaging	Het
Deaf1	A	G	7: 140,902,874 (GRCm39)	I150T	probably damaging	Het
Eif3a	A	T	19: 60,770,747 (GRCm39)	D33E	possibly damaging	Het
Fabp12	C	A	3: 10,315,114 (GRCm39)	G78C	probably benign	Het
Fat1	A	G	8: 45,476,651 (GRCm39)	D1899G	probably damaging	Het
Galnt13	G	A	2: 54,744,660 (GRCm39)	V120I	probably benign	Het
Ganab	G	A	19: 8,889,840 (GRCm39)	A635T	probably damaging	Het
Gm17509	G	A	13: 117,357,380 (GRCm39)		probably benign	Het
Gstm3	A	T	3: 107,875,080 (GRCm39)		probably null	Het
Hfm1	T	A	5: 107,043,800 (GRCm39)		probably benign	Het
Hoxd13	A	C	2: 74,500,440 (GRCm39)	D327A	probably damaging	Het
Ints4	G	T	7: 97,140,137 (GRCm39)		probably null	Het
Kcna10	A	T	3: 107,102,259 (GRCm39)	T297S	probably benign	Het
Ldb2	G	A	5: 44,699,057 (GRCm39)	T127I	probably damaging	Het
Mapk7	T	C	11: 61,382,498 (GRCm39)	D68G	probably damaging	Het
Msh3	A	T	13: 92,357,596 (GRCm39)		probably benign	Het
Muc6	A	G	7: 141,217,402 (GRCm39)	S2359P	possibly damaging	Het
Mup6	A	T	4: 60,005,990 (GRCm39)	I161F	possibly damaging	Het
Or13a22	A	G	7: 140,073,034 (GRCm39)	N161S	possibly damaging	Het
Or14a258	T	C	7: 86,034,929 (GRCm39)	Y313C	possibly damaging	Het
Or4e5	T	A	14: 52,727,533 (GRCm39)	D296V	probably damaging	Het
Otog	G	A	7: 45,900,762 (GRCm39)	V352I	probably damaging	Het
Oxct1	T	A	15: 4,064,764 (GRCm39)	V34D	probably benign	Het
Pcdhb21	T	A	18: 37,648,944 (GRCm39)		probably null	Het
Pcdhb8	T	G	18: 37,490,299 (GRCm39)	V659G	probably damaging	Het
Plxnb2	T	C	15: 89,042,234 (GRCm39)	N1590S	probably benign	Het
Rnf168	G	T	16: 32,097,099 (GRCm39)	R56L	possibly damaging	Het
Scn8a	C	T	15: 100,872,496 (GRCm39)	P362S	probably benign	Het
Slc1a3	T	A	15: 8,668,562 (GRCm39)	I468F	probably damaging	Het
Slc39a14	G	A	14: 70,556,368 (GRCm39)	R3W	probably damaging	Het
Slc7a6	T	A	8: 106,921,149 (GRCm39)	N373K	probably damaging	Het
Snrnp200	T	C	2: 127,080,087 (GRCm39)	S1955P	possibly damaging	Het
Stat5a	T	A	11: 100,753,965 (GRCm39)	Y98*	probably null	Het
Thsd7b	G	T	1: 130,138,013 (GRCm39)	G1564C	probably damaging	Het
Zc3h13	T	C	14: 75,569,206 (GRCm39)	V1351A	possibly 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
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
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

2016-08-02