Mutagenetix > Incidental Mutation

Incidental Mutation 'R6151:Nup160'

489228

Institutional Source

Beutler Lab

Gene Symbol

Nup160

Ensembl Gene

ENSMUSG00000051329

Gene Name

nucleoporin 160

Synonyms

Gtl1-13, 2810011M03Rik

MMRRC Submission

044298-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R6151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90507559-90566672 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 90520449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 293 (Y293*)

Ref Sequence

ENSEMBL: ENSMUSP00000059289 (fasta)

Gene Model

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

AlphaFold

Q9Z0W3

Predicted Effect

probably null
Transcript: ENSMUST00000057481
AA Change: Y293*

SMART Domains

Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: Y293*

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: ENSMUST00000136739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154036

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	G	1: 120,099,216 (GRCm39)		probably null	Het
4930550C14Rik	G	T	9: 53,325,683 (GRCm39)	R73S	probably damaging	Het
Abca1	A	G	4: 53,085,261 (GRCm39)	V517A	probably benign	Het
Adck5	A	T	15: 76,478,887 (GRCm39)	K370N	possibly damaging	Het
Akap6	A	C	12: 53,072,575 (GRCm39)	D981A	probably damaging	Het
Apbb1	G	A	7: 105,223,459 (GRCm39)	R51*	probably null	Het
Arhgap23	A	G	11: 97,391,238 (GRCm39)	M1252V	probably benign	Het
Arhgef1	A	G	7: 24,617,367 (GRCm39)	T354A	probably benign	Het
Arid1a	G	T	4: 133,412,287 (GRCm39)	Q1636K	unknown	Het
Asmt	C	T	X: 169,110,202 (GRCm39)	A237V	possibly damaging	Het
Brat1	T	A	5: 140,691,716 (GRCm39)	C43S	probably benign	Het
Cd36	T	C	5: 18,000,593 (GRCm39)	Y370C	probably damaging	Het
Ceacam12	A	T	7: 17,803,030 (GRCm39)	L145F	probably benign	Het
Col24a1	C	T	3: 145,019,815 (GRCm39)	T62I	probably damaging	Het
Col6a3	G	T	1: 90,741,475 (GRCm39)	N652K	possibly damaging	Het
Dcbld1	T	C	10: 52,180,756 (GRCm39)	L140P	probably damaging	Het
Dhrs13	G	A	11: 77,927,808 (GRCm39)	C218Y	probably damaging	Het
Diaph1	T	G	18: 37,986,406 (GRCm39)	E1158A	probably damaging	Het
Emp2	A	C	16: 10,110,145 (GRCm39)	F20C	probably damaging	Het
Enpep	T	C	3: 129,126,067 (GRCm39)	I22V	possibly damaging	Het
Epha2	A	G	4: 141,045,791 (GRCm39)		probably null	Het
Eprs1	G	T	1: 185,139,951 (GRCm39)		probably null	Het
Etl4	T	A	2: 20,718,171 (GRCm39)	I304N	probably damaging	Het
Exoc3l2	C	A	7: 19,225,670 (GRCm39)	S89*	probably null	Het
F5	A	T	1: 164,009,204 (GRCm39)	I325F	probably damaging	Het
F5	G	A	1: 164,017,756 (GRCm39)	C611Y	probably damaging	Het
Fam133b	A	T	5: 3,609,133 (GRCm39)	S116C	probably null	Het
Fam13b	A	T	18: 34,627,330 (GRCm39)	D190E	probably damaging	Het
Fam169a	T	G	13: 97,230,138 (GRCm39)	Y58D	probably damaging	Het
Far1	G	A	7: 113,160,603 (GRCm39)	R383H	possibly damaging	Het
Fnbp1l	T	C	3: 122,364,579 (GRCm39)	K52R	possibly damaging	Het
Foxj3	C	A	4: 119,480,468 (GRCm39)	Q469K	unknown	Het
Frs3	A	T	17: 48,000,013 (GRCm39)		probably benign	Het
Gdpd3	A	G	7: 126,374,674 (GRCm39)	S290G	probably benign	Het
Gmip	T	A	8: 70,269,735 (GRCm39)	L610Q	probably damaging	Het
Gprc5c	T	A	11: 114,754,851 (GRCm39)	I176N	probably damaging	Het
Grm3	A	G	5: 9,561,556 (GRCm39)	F765L	probably damaging	Het
Hhat	A	T	1: 192,442,065 (GRCm39)	L2Q	probably damaging	Het
Hspbap1	T	C	16: 35,637,592 (GRCm39)	S214P	probably damaging	Het
Ighv1-62-3	C	A	12: 115,424,909 (GRCm39)	V21F	probably damaging	Het
Kcnj15	A	T	16: 95,096,527 (GRCm39)	K50*	probably null	Het
Kidins220	T	C	12: 25,106,908 (GRCm39)	S1454P	possibly damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Klhl23	T	G	2: 69,655,198 (GRCm39)	L356R	probably damaging	Het
Kndc1	A	T	7: 139,501,129 (GRCm39)	D806V	probably benign	Het
Krt26	T	C	11: 99,228,315 (GRCm39)	E139G	probably benign	Het
Lefty1	T	C	1: 180,762,681 (GRCm39)	F3L	unknown	Het
Madd	A	C	2: 90,995,802 (GRCm39)	Y853*	probably null	Het
Map1a	T	A	2: 121,120,304 (GRCm39)	D63E	probably benign	Het
Mdn1	T	A	4: 32,684,735 (GRCm39)	V815E	probably damaging	Het
Mettl3	A	G	14: 52,532,477 (GRCm39)	Y569H	probably damaging	Het
Mknk2	T	C	10: 80,504,859 (GRCm39)		probably null	Het
Mpp3	C	A	11: 101,899,392 (GRCm39)	R376S	probably benign	Het
Ncoa4-ps	T	G	12: 119,224,841 (GRCm39)		noncoding transcript	Het
Nup58	A	T	14: 60,482,065 (GRCm39)	F100I	possibly damaging	Het
Nxpe2	A	C	9: 48,237,491 (GRCm39)	L255V	probably benign	Het
Or10ab4	A	G	7: 107,655,106 (GRCm39)	I306V	probably benign	Het
Or1e30	T	A	11: 73,678,521 (GRCm39)	Y252*	probably null	Het
Or2l5	A	T	16: 19,334,281 (GRCm39)	L35Q	probably damaging	Het
Or4d11	T	C	19: 12,014,100 (GRCm39)	E2G	probably benign	Het
Padi3	A	T	4: 140,523,705 (GRCm39)	D248E	probably damaging	Het
Paxip1	G	T	5: 27,966,616 (GRCm39)	H637N	probably damaging	Het
Pde4b	T	A	4: 102,458,748 (GRCm39)	M296K	probably damaging	Het
Pkd1	A	G	17: 24,794,580 (GRCm39)	H2089R	probably benign	Het
Plaat5	C	T	19: 7,596,656 (GRCm39)	P148S	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Rhebl1	T	C	15: 98,776,160 (GRCm39)	I165V	probably benign	Het
Rock1	A	T	18: 10,106,426 (GRCm39)	V481E	possibly damaging	Het
Rtca	T	A	3: 116,301,476 (GRCm39)	T24S	probably benign	Het
Serpina3c	T	A	12: 104,118,327 (GRCm39)	I4F	possibly damaging	Het
Serpina3j	C	A	12: 104,283,649 (GRCm39)	A249E	possibly damaging	Het
Slc38a9	A	G	13: 112,825,910 (GRCm39)	N116S	probably damaging	Het
Slco2b1	C	T	7: 99,339,770 (GRCm39)	V58I	possibly damaging	Het
Slfn8	T	A	11: 82,908,147 (GRCm39)	Y132F	probably damaging	Het
Smg6	T	G	11: 75,047,033 (GRCm39)	I1242S	probably damaging	Het
Tap2	G	T	17: 34,431,021 (GRCm39)	V374L	probably benign	Het
Tbc1d10b	G	A	7: 126,807,168 (GRCm39)	T123M	probably damaging	Het
Tenm2	A	C	11: 35,899,610 (GRCm39)	V2516G	probably damaging	Het
Tenm3	C	T	8: 48,848,608 (GRCm39)	R12Q	probably damaging	Het
Tmem130	T	A	5: 144,674,661 (GRCm39)	M355L	probably benign	Het
Tns4	C	T	11: 98,966,376 (GRCm39)	S433N	probably benign	Het
Traip	G	T	9: 107,847,818 (GRCm39)		probably null	Het
Trmo	G	A	4: 46,389,390 (GRCm39)	R2C	probably damaging	Het
Ttn	A	T	2: 76,774,504 (GRCm39)	I2134N	probably damaging	Het
Uba1y	A	G	Y: 825,984 (GRCm39)	D380G	probably benign	Het
Ube2t	T	A	1: 134,895,698 (GRCm39)		probably null	Het
Ugdh	A	T	5: 65,574,924 (GRCm39)	Y367*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vmn1r84	G	T	7: 12,095,841 (GRCm39)	T284K	possibly damaging	Het
Vmn1r91	T	A	7: 19,835,360 (GRCm39)	F93Y	probably benign	Het
Vmn2r77	T	A	7: 86,450,878 (GRCm39)	Y255N	probably benign	Het
Vmn2r96	A	T	17: 18,804,221 (GRCm39)	Q490H	probably benign	Het
Vwa2	A	G	19: 56,891,897 (GRCm39)		probably null	Het
Vwf	A	G	6: 125,634,028 (GRCm39)	K169E	unknown	Het
Zc3h7b	G	C	15: 81,662,911 (GRCm39)		probably null	Het
Zfp458	T	A	13: 67,405,662 (GRCm39)	H259L	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp804b	A	G	5: 6,819,910 (GRCm39)	V1051A	probably benign	Het
Zfp998	A	T	13: 66,579,740 (GRCm39)	C248S	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
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'- TGTACACTGACACGTATCCATACAC -3'
(R):5'- AAGCCCAAGTACCCTTTGGAC -3'

Sequencing Primer
(F):5'- AGACAAGGTCTTGCAGTGTAGCTC -3'
(R):5'- AAGTACCCTTTGGACAACTTAATATG -3'

Posted On

2017-10-10