Mutagenetix > Incidental Mutation

Incidental Mutation 'R7959:Nup160'

649991

Institutional Source

Beutler Lab

Gene Symbol

Nup160

Ensembl Gene

ENSMUSG00000051329

Gene Name

nucleoporin 160

Synonyms

Gtl1-13, 2810011M03Rik

MMRRC Submission

046003-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R7959 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90507559-90566672 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 90544239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000059289 (fasta)

Gene Model

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

AlphaFold

Q9Z0W3

Predicted Effect

probably null
Transcript: ENSMUST00000057481

SMART Domains

Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329

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

Coding Region Coverage

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,988,013 (GRCm39)	V3099A	possibly damaging	Het
Apba2	A	G	7: 64,345,571 (GRCm39)	M254V	probably benign	Het
Bbs7	C	T	3: 36,657,085 (GRCm39)	D248N	probably damaging	Het
Ccdc168	T	C	1: 44,096,728 (GRCm39)	I1457V	probably benign	Het
Cldn8	A	G	16: 88,359,829 (GRCm39)	V32A	probably damaging	Het
Col4a4	G	T	1: 82,484,780 (GRCm39)	P496T	unknown	Het
Cyp27a1	T	A	1: 74,776,236 (GRCm39)	N417K	probably benign	Het
Dnah7a	T	C	1: 53,682,621 (GRCm39)	D283G	probably benign	Het
Efcab3	A	G	11: 104,933,627 (GRCm39)	K4878E	probably damaging	Het
Elp1	A	T	4: 56,774,737 (GRCm39)	M746K	probably damaging	Het
Fmn1	T	A	2: 113,195,967 (GRCm39)	Y556N	unknown	Het
Fsip2	T	C	2: 82,816,120 (GRCm39)	I3951T	possibly damaging	Het
Gigyf1	C	T	5: 137,522,581 (GRCm39)	T773I	probably damaging	Het
Heatr6	A	T	11: 83,672,189 (GRCm39)	K1066*	probably null	Het
Mdfic	T	C	6: 15,741,070 (GRCm39)	S142P	possibly damaging	Het
Mettl16	A	G	11: 74,707,852 (GRCm39)	I389V	probably benign	Het
Mia3	T	C	1: 183,125,760 (GRCm39)	Y57C	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Or1e1	T	C	11: 73,244,744 (GRCm39)	L55P	probably damaging	Het
Or2n1e	A	G	17: 38,586,602 (GRCm39)	*313W	probably null	Het
Or52a24	T	A	7: 103,382,015 (GRCm39)	V294D	probably damaging	Het
Or8b1b	T	A	9: 38,376,211 (GRCm39)	S291R	probably damaging	Het
Or9s13	T	A	1: 92,548,029 (GRCm39)	C134S	probably damaging	Het
Pierce1	A	T	2: 28,352,369 (GRCm39)	N131K	probably damaging	Het
Plcxd1	A	T	5: 110,251,422 (GRCm39)	I333F	probably damaging	Het
Plxna2	C	A	1: 194,493,270 (GRCm39)	S1848R	probably damaging	Het
Plxna2	AT	A	1: 194,476,172 (GRCm39)		probably null	Het
Pnpla2	T	A	7: 141,037,406 (GRCm39)	D136E	probably benign	Het
Polr1b	T	A	2: 128,950,014 (GRCm39)	F245I	probably damaging	Het
Prmt9	T	A	8: 78,287,594 (GRCm39)	I245N	probably damaging	Het
Serhl	A	T	15: 82,986,073 (GRCm39)	D62V	probably damaging	Het
Sh3rf3	A	T	10: 58,842,925 (GRCm39)	D297V	probably damaging	Het
Spata13	C	T	14: 60,993,679 (GRCm39)	R1044*	probably null	Het
Strbp	G	A	2: 37,530,906 (GRCm39)	T116I	probably benign	Het
Supt5	T	C	7: 28,015,224 (GRCm39)	D977G	probably benign	Het
Tmem184c	A	G	8: 78,329,532 (GRCm39)	V176A	possibly damaging	Het
Uhrf2	A	G	19: 30,063,660 (GRCm39)	N541S	probably damaging	Het
Vmn2r24	T	A	6: 123,755,949 (GRCm39)	F7Y	possibly damaging	Het
Vmn2r27	T	C	6: 124,169,040 (GRCm39)	R697G	probably benign	Het
Zfp994	A	G	17: 22,421,761 (GRCm39)	V18A	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTGTGTCTGTCCCACTATGTC -3'
(R):5'- GAAGGCGTCACTACTGTACC -3'

Sequencing Primer
(F):5'- CCAACCTTTGCACAATCTCTAGTAAG -3'
(R):5'- GGCGTCACTACTGTACCCTCAC -3'

Posted On

2020-09-15