Mutagenetix > Incidental Mutation

Incidental Mutation 'R5075:Nup160'

386910

Institutional Source

Beutler Lab

Gene Symbol

Nup160

Ensembl Gene

ENSMUSG00000051329

Gene Name

nucleoporin 160

Synonyms

Gtl1-13, 2810011M03Rik

MMRRC Submission

042664-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R5075 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90507559-90566672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90530518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 463 (E463G)

Ref Sequence

ENSEMBL: ENSMUSP00000059289 (fasta)

Gene Model

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

AlphaFold

Q9Z0W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000057481
AA Change: E463G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: E463G

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

Meta Mutation Damage Score

0.3963

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (57/57)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,587,456 (GRCm39)	F33S	probably damaging	Het
Atf7ip	A	G	6: 136,537,232 (GRCm39)	D163G	probably benign	Het
Cep85	C	A	4: 133,859,678 (GRCm39)	D662Y	probably damaging	Het
Cntn6	T	A	6: 104,809,991 (GRCm39)	S558T	probably damaging	Het
Dnah8	T	C	17: 30,958,731 (GRCm39)		probably null	Het
Dnah8	T	A	17: 31,019,505 (GRCm39)	N3859K	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnajc21	G	T	15: 10,461,963 (GRCm39)	T146K	probably benign	Het
Ep400	T	C	5: 110,833,351 (GRCm39)	E1957G	unknown	Het
Esm1	A	G	13: 113,349,892 (GRCm39)	Y104C	probably damaging	Het
Fkbp15	T	C	4: 62,239,266 (GRCm39)	K613R	probably damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm5592	A	G	7: 40,808,387 (GRCm39)		probably benign	Het
Hdac4	A	G	1: 91,923,842 (GRCm39)	S223P	probably benign	Het
Hypk	A	G	2: 121,286,111 (GRCm39)		probably benign	Het
Kpna1	T	A	16: 35,829,722 (GRCm39)	F70I	probably damaging	Het
Lrp2	A	G	2: 69,296,102 (GRCm39)	Y3336H	probably benign	Het
Mier1	A	G	4: 102,996,670 (GRCm39)	D99G	probably benign	Het
Muc4	T	C	16: 32,754,794 (GRCm38)		probably benign	Het
Or5b121	T	A	19: 13,507,637 (GRCm39)	M244K	probably benign	Het
Peg3	A	T	7: 6,711,419 (GRCm39)	C1268S	probably damaging	Het
Recql4	G	A	15: 76,593,744 (GRCm39)	P122L	probably damaging	Het
Rex2	A	T	4: 147,142,151 (GRCm39)	Q213L	possibly damaging	Het
Rnf25	A	G	1: 74,634,803 (GRCm39)	V73A	probably benign	Het
Sacm1l	A	G	9: 123,411,327 (GRCm39)	D372G	probably benign	Het
Selplg	T	C	5: 113,958,045 (GRCm39)	D87G	probably benign	Het
Sgsh	G	A	11: 119,237,594 (GRCm39)	T340M	probably benign	Het
Slc4a3	A	T	1: 75,534,012 (GRCm39)	I1120F	probably damaging	Het
Snrnp40	T	C	4: 130,282,375 (GRCm39)	Y311H	probably benign	Het
Spata31e2	T	C	1: 26,722,133 (GRCm39)	K1016E	probably damaging	Het
Stard7	A	T	2: 127,111,879 (GRCm39)		probably benign	Het
Stat1	A	T	1: 52,161,871 (GRCm39)	K40M	possibly damaging	Het
Sun1	T	C	5: 139,212,646 (GRCm39)		probably null	Het
Tet2	T	A	3: 133,192,667 (GRCm39)	Q589L	probably benign	Het
Tmc7	A	T	7: 118,151,919 (GRCm39)		probably null	Het
Tmt1b	A	G	10: 128,796,549 (GRCm39)	F87L	probably damaging	Het
Unc79	A	T	12: 103,041,213 (GRCm39)	I749F	possibly damaging	Het
Ust	A	G	10: 8,393,988 (GRCm39)	F59S	probably damaging	Het
Wdr81	A	T	11: 75,343,307 (GRCm39)	D653E	probably benign	Het
Zfat	A	G	15: 68,052,079 (GRCm39)	S572P	probably benign	Het
Zmynd15	G	C	11: 70,352,946 (GRCm39)	E143D	probably damaging	Het
Zzef1	A	G	11: 72,749,170 (GRCm39)	E886G	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
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

Predicted Primers

PCR Primer
(F):5'- TCCTGACATTTCTGAGGTTGC -3'
(R):5'- ACTTCCTTGGAGCTGACAAAC -3'

Sequencing Primer
(F):5'- GCTCTGTAGTTACATATTGCCTTAG -3'
(R):5'- CCTTATGCATGAAATCCTATGGG -3'

Posted On

2016-06-06