Mutagenetix > Incidental Mutation

Incidental Mutation 'R1468:Nup160'

197688

Institutional Source

Beutler Lab

Gene Symbol

Nup160

Ensembl Gene

ENSMUSG00000051329

Gene Name

nucleoporin 160

Synonyms

Gtl1-13, 2810011M03Rik

MMRRC Submission

039521-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R1468 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90507559-90566672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90530887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 515 (H515L)

Ref Sequence

ENSEMBL: ENSMUSP00000059289 (fasta)

Gene Model

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

AlphaFold

Q9Z0W3

Predicted Effect

probably benign
Transcript: ENSMUST00000057481
AA Change: H515L

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

SMART Domains

Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: H515L

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

0.0592

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

98% (106/108)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	G	7: 12,246,507 (GRCm39)	M1R	probably null	Het
4933440N22Rik	C	A	6: 117,884,540 (GRCm39)		probably benign	Het
5031439G07Rik	G	T	15: 84,837,345 (GRCm39)	P280T	probably damaging	Het
Abca2	C	T	2: 25,331,308 (GRCm39)	S1267L	probably damaging	Het
Acsl3	A	T	1: 78,684,126 (GRCm39)	R719S	probably benign	Het
Adam1a	A	T	5: 121,657,839 (GRCm39)		probably null	Het
Adamts7	T	C	9: 90,070,851 (GRCm39)		probably benign	Het
Adgrf3	G	A	5: 30,407,227 (GRCm39)		probably benign	Het
Aldh6a1	T	C	12: 84,488,544 (GRCm39)	E89G	possibly damaging	Het
Ankrd36	A	G	11: 5,525,752 (GRCm39)	Y238C	probably damaging	Het
Ankrd65	G	A	4: 155,877,362 (GRCm39)	R291Q	probably benign	Het
Ano2	C	T	6: 125,773,227 (GRCm39)	R287W	probably damaging	Het
Ap1ar	A	G	3: 127,606,215 (GRCm39)	I125T	probably benign	Het
Arid1b	A	G	17: 5,293,197 (GRCm39)	D705G	probably damaging	Het
Asb18	T	A	1: 89,924,005 (GRCm39)	N86I	probably damaging	Het
Bicral	A	T	17: 47,135,519 (GRCm39)	S564T	probably benign	Het
Bpifa6	A	G	2: 153,831,192 (GRCm39)	M253V	probably benign	Het
Braf	T	C	6: 39,642,017 (GRCm39)	D194G	probably damaging	Het
Brinp3	C	A	1: 146,777,700 (GRCm39)	P716T	probably benign	Het
C7	T	A	15: 5,041,631 (GRCm39)	Y425F	probably damaging	Het
Ccdc102a	T	C	8: 95,632,714 (GRCm39)	K421R	probably benign	Het
Cep89	G	A	7: 35,120,388 (GRCm39)		probably null	Het
Chgb	A	T	2: 132,634,720 (GRCm39)	M221L	probably benign	Het
Chst14	A	G	2: 118,758,145 (GRCm39)	Y313C	probably damaging	Het
Ciita	G	A	16: 10,331,152 (GRCm39)		probably null	Het
Clec12b	A	T	6: 129,357,603 (GRCm39)	I85N	probably damaging	Het
Clec2e	G	T	6: 129,070,459 (GRCm39)	Y187*	probably null	Het
Crbn	T	C	6: 106,767,804 (GRCm39)	K229E	probably benign	Het
Ctdspl2	A	T	2: 121,811,762 (GRCm39)	Q201L	probably benign	Het
Ctrb1	G	T	8: 112,416,041 (GRCm39)		probably benign	Het
Cyp2c55	T	A	19: 38,999,525 (GRCm39)	V77E	probably damaging	Het
Cyp2c69	A	C	19: 39,837,839 (GRCm39)	D414E	probably damaging	Het
Ddx47	T	C	6: 134,988,703 (GRCm39)		probably benign	Het
Dlg1	A	G	16: 31,661,640 (GRCm39)		probably null	Het
Dnah5	C	A	15: 28,230,609 (GRCm39)	S169*	probably null	Het
Dock4	C	A	12: 40,805,809 (GRCm39)	T927K	probably benign	Het
Esrp2	T	G	8: 106,860,453 (GRCm39)	D259A	probably damaging	Het
Fam169a	A	G	13: 97,255,038 (GRCm39)	K418R	probably benign	Het
Fancm	A	T	12: 65,146,067 (GRCm39)	I597F	probably damaging	Het
Fastkd2	G	T	1: 63,771,385 (GRCm39)		probably benign	Het
Fat1	G	A	8: 45,463,582 (GRCm39)	V1375M	probably damaging	Het
Fbxw10	A	T	11: 62,753,464 (GRCm39)	D486V	probably damaging	Het
Fech	C	T	18: 64,603,744 (GRCm39)		probably benign	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Foxp1	T	A	6: 98,955,181 (GRCm39)	H195L	possibly damaging	Het
Gfra1	T	A	19: 58,440,407 (GRCm39)	I138L	probably benign	Het
Gm12185	T	C	11: 48,806,501 (GRCm39)	D230G	possibly damaging	Het
Gm14403	T	A	2: 177,199,024 (GRCm39)		probably benign	Het
Gpd2	A	C	2: 57,245,786 (GRCm39)	T439P	probably damaging	Het
Gpm6a	A	T	8: 55,490,385 (GRCm39)	K20N	probably damaging	Het
Hc	A	T	2: 34,873,819 (GRCm39)	Y158*	probably null	Het
Hectd4	A	T	5: 121,487,235 (GRCm39)	D3410V	possibly damaging	Het
Il17b	G	A	18: 61,823,483 (GRCm39)		probably null	Het
Irx4	G	T	13: 73,413,695 (GRCm39)	R55L	possibly damaging	Het
Itgav	A	T	2: 83,596,245 (GRCm39)		probably benign	Het
Lama3	T	C	18: 12,574,164 (GRCm39)	V582A	probably benign	Het
Ldhd	G	T	8: 112,353,925 (GRCm39)	A425E	possibly damaging	Het
Lrp1b	C	T	2: 40,817,841 (GRCm39)		probably null	Het
Lrp5	T	C	19: 3,670,191 (GRCm39)	T638A	possibly damaging	Het
Lrrk1	A	C	7: 65,909,722 (GRCm39)	F1996C	probably damaging	Het
Ly6h	G	A	15: 75,437,986 (GRCm39)	S21L	probably benign	Het
Mctp1	T	C	13: 76,973,392 (GRCm39)	V431A	probably benign	Het
Metap2	C	T	10: 93,707,345 (GRCm39)		probably null	Het
Mfsd2b	T	A	12: 4,920,536 (GRCm39)	K94*	probably null	Het
Micall2	A	G	5: 139,705,097 (GRCm39)	L79P	probably damaging	Het
Mucl2	T	C	15: 103,927,673 (GRCm39)	T95A	possibly damaging	Het
Myo15a	A	T	11: 60,396,832 (GRCm39)	T2634S	probably damaging	Het
Myo5b	G	T	18: 74,873,574 (GRCm39)	V1467L	probably damaging	Het
Nfic	G	T	10: 81,256,414 (GRCm39)	D105E	probably damaging	Het
Nrdc	T	A	4: 108,873,865 (GRCm39)	F227Y	probably benign	Het
Nrp2	A	T	1: 62,777,458 (GRCm39)	I88F	probably damaging	Het
Nup205	G	A	6: 35,202,917 (GRCm39)		probably null	Het
Oas1g	G	A	5: 121,020,069 (GRCm39)	T179I	probably benign	Het
Ogfr	A	T	2: 180,236,543 (GRCm39)	E376V	probably damaging	Het
Or2l13	T	G	16: 19,306,378 (GRCm39)	S263R	probably benign	Het
Or4a69	A	T	2: 89,312,855 (GRCm39)	V208D	possibly damaging	Het
Or4c107	T	G	2: 88,789,387 (GRCm39)	Y192*	probably null	Het
Or52d1	G	T	7: 103,755,896 (GRCm39)	V137F	possibly damaging	Het
Or5p6	C	T	7: 107,631,595 (GRCm39)		probably null	Het
Pard3b	T	C	1: 62,384,188 (GRCm39)	V851A	probably benign	Het
Pcdhb16	A	T	18: 37,611,142 (GRCm39)	Y34F	probably damaging	Het
Pikfyve	T	C	1: 65,290,825 (GRCm39)	Y1215H	probably damaging	Het
Pkhd1	A	T	1: 20,593,565 (GRCm39)	V1516E	probably damaging	Het
Pla2g4a	A	T	1: 149,763,344 (GRCm39)		probably benign	Het
Ptprg	A	T	14: 12,190,767 (GRCm38)	I818F	probably benign	Het
Ralgapb	A	G	2: 158,304,173 (GRCm39)	E644G	possibly damaging	Het
Rbm45	A	G	2: 76,202,459 (GRCm39)	I127M	probably damaging	Het
Rtp2	T	C	16: 23,746,220 (GRCm39)	Y157C	probably damaging	Het
Sema3f	A	T	9: 107,564,771 (GRCm39)		probably benign	Het
Sf3b3	A	T	8: 111,564,006 (GRCm39)	Y329N	probably damaging	Het
Sfxn1	A	G	13: 54,239,646 (GRCm39)		probably null	Het
Shkbp1	A	T	7: 27,044,751 (GRCm39)	C447S	probably damaging	Het
Sipa1l3	A	G	7: 29,021,685 (GRCm39)	S689P	possibly damaging	Het
Slc7a8	A	G	14: 54,970,656 (GRCm39)	S332P	probably damaging	Het
Slit1	C	A	19: 41,596,823 (GRCm39)	C1092F	probably damaging	Het
Slx9	A	G	10: 77,333,360 (GRCm39)		probably benign	Het
Stard9	A	G	2: 120,533,678 (GRCm39)	I619V	possibly damaging	Het
Sycp3	T	C	10: 88,305,454 (GRCm39)	V185A	possibly damaging	Het
Taar9	A	T	10: 23,985,382 (GRCm39)	N17K	possibly damaging	Het
Tbkbp1	T	C	11: 97,039,814 (GRCm39)	E102G	probably damaging	Het
Tex44	A	G	1: 86,354,834 (GRCm39)	N248D	probably benign	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Tnpo1	C	T	13: 98,986,665 (GRCm39)	V781I	probably benign	Het
Tonsl	C	T	15: 76,520,761 (GRCm39)		probably null	Het
Ttc6	A	G	12: 57,721,463 (GRCm39)	K984R	possibly damaging	Het
Usp34	A	G	11: 23,391,171 (GRCm39)	E2263G	probably damaging	Het
Usp8	A	G	2: 126,596,847 (GRCm39)	K875E	probably damaging	Het
Vapb	C	T	2: 173,603,905 (GRCm39)		probably benign	Het
Vmn1r223	A	G	13: 23,434,038 (GRCm39)	I211V	possibly damaging	Het
Vmn2r81	G	A	10: 79,129,496 (GRCm39)	V796I	probably damaging	Het
Wdr90	A	T	17: 26,073,027 (GRCm39)	V856D	probably damaging	Het
Wnk2	T	A	13: 49,235,571 (GRCm39)	T615S	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
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

Predicted Primers

PCR Primer
(F):5'- AGGAGGGACTCCTGACATTTCTGAG -3'
(R):5'- TGTTTGTTGAAGCAGAGGCTGACC -3'

Sequencing Primer
(F):5'- AGGCCAGACTTCCTTCAGTG -3'
(R):5'- tcctaagggcattcccatgtag -3'

Posted On

2014-05-23