Mutagenetix > Incidental Mutation

Incidental Mutation 'R4932:Nup153'

380669

Institutional Source

Beutler Lab

Gene Symbol

Nup153

Ensembl Gene

ENSMUSG00000021374

Gene Name

nucleoporin 153

Synonyms

B130015D15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R4932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46833381-46881416 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 46866213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 182 (K182*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021803]

AlphaFold

E9Q3G8

Predicted Effect

probably null
Transcript: ENSMUST00000021803
AA Change: K251*

SMART Domains

Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374
AA Change: K251*

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
Pfam:Nup153	114	627	6e-236	PFAM
ZnF_RBZ	656	680	6.56e-6	SMART
ZnF_RBZ	719	743	5.89e-8	SMART
low complexity region	756	775	N/A	INTRINSIC
ZnF_RBZ	787	811	7.2e-3	SMART
low complexity region	815	830	N/A	INTRINSIC
ZnF_RBZ	844	868	1.64e-6	SMART
low complexity region	898	911	N/A	INTRINSIC
low complexity region	1078	1085	N/A	INTRINSIC
low complexity region	1183	1207	N/A	INTRINSIC
low complexity region	1248	1260	N/A	INTRINSIC
low complexity region	1271	1296	N/A	INTRINSIC
Pfam:Nup_retrotrp_bd	1372	1462	4.4e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183299

Predicted Effect

probably null
Transcript: ENSMUST00000224062
AA Change: K182*

Predicted Effect

probably benign
Transcript: ENSMUST00000225894

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,270,342 (GRCm39)	V616E	possibly damaging	Het
Adam21	A	G	12: 81,605,692 (GRCm39)	V690A	probably benign	Het
Afg3l1	A	T	8: 124,228,119 (GRCm39)	T635S	probably damaging	Het
Ahcyl2	T	A	6: 29,890,700 (GRCm39)	M390K	probably benign	Het
Ank3	T	A	10: 69,734,053 (GRCm39)		probably null	Het
Antkmt	T	G	17: 26,010,652 (GRCm39)		probably null	Het
Arhgef3	A	T	14: 27,106,170 (GRCm39)	K151N	probably damaging	Het
Ccr3	T	G	9: 123,829,043 (GRCm39)	F126C	probably damaging	Het
Ccser1	A	G	6: 61,695,175 (GRCm39)	D170G	possibly damaging	Het
Celsr2	T	A	3: 108,310,074 (GRCm39)	D1552V	probably damaging	Het
Cfap69	G	A	5: 5,675,820 (GRCm39)	L265F	probably damaging	Het
Chrna9	C	T	5: 66,126,533 (GRCm39)	R92*	probably null	Het
Cog3	A	T	14: 75,970,394 (GRCm39)	V341D	probably damaging	Het
Csmd1	C	A	8: 16,073,779 (GRCm39)	R2072L	probably damaging	Het
Dbf4	G	T	5: 8,448,039 (GRCm39)	H390Q	probably benign	Het
Dcaf4	T	A	12: 83,579,078 (GRCm39)	C166S	possibly damaging	Het
Dclk3	T	A	9: 111,297,110 (GRCm39)	L218Q	possibly damaging	Het
Dip2b	T	A	15: 100,069,603 (GRCm39)	W643R	probably damaging	Het
Dip2c	A	G	13: 9,674,008 (GRCm39)	K1091E	probably damaging	Het
Dis3	T	A	14: 99,326,340 (GRCm39)	H415L	probably damaging	Het
Dnah7a	T	A	1: 53,542,737 (GRCm39)	I2478F	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Doc2a	T	C	7: 126,447,752 (GRCm39)		probably benign	Het
Dph5	A	T	3: 115,693,456 (GRCm39)	M125L	probably benign	Het
Dst	A	T	1: 34,267,764 (GRCm39)	T5247S	possibly damaging	Het
Eno4	T	G	19: 58,952,889 (GRCm39)	V477G	possibly damaging	Het
Exosc8	T	C	3: 54,636,711 (GRCm39)	I207V	possibly damaging	Het
Fat4	T	A	3: 39,061,352 (GRCm39)	S4312T	probably benign	Het
Fgfr2	T	C	7: 129,843,007 (GRCm39)	D126G	probably damaging	Het
Fgfr4	A	G	13: 55,315,983 (GRCm39)	T799A	unknown	Het
Gcn1	A	T	5: 115,730,203 (GRCm39)	D839V	probably benign	Het
Gprin3	A	G	6: 59,331,158 (GRCm39)	V383A	probably benign	Het
Gpt	T	C	15: 76,583,040 (GRCm39)	V361A	probably benign	Het
Hepacam	G	A	9: 37,293,060 (GRCm39)	C217Y	probably damaging	Het
Hsp90aa1	A	T	12: 110,660,151 (GRCm39)	Y382N	probably damaging	Het
Htr2a	T	A	14: 74,879,462 (GRCm39)	N30K	probably benign	Het
Jhy	A	T	9: 40,872,299 (GRCm39)	M70K	possibly damaging	Het
Lrrc19	T	C	4: 94,529,174 (GRCm39)	Y36C	probably damaging	Het
Madcam1	C	T	10: 79,501,447 (GRCm39)	Q171*	probably null	Het
Mcm8	G	A	2: 132,680,629 (GRCm39)	M544I	probably benign	Het
Mdga1	C	T	17: 30,076,580 (GRCm39)	G64E	probably damaging	Het
Mmp3	A	G	9: 7,446,994 (GRCm39)	D58G	probably benign	Het
Ms4a10	T	C	19: 10,942,132 (GRCm39)	Y123C	probably damaging	Het
Ms4a4d	T	A	19: 11,535,296 (GRCm39)	I198K	probably benign	Het
Mthfd1l	A	T	10: 3,930,241 (GRCm39)	D112V	probably benign	Het
N4bp2l2	A	C	5: 150,566,606 (GRCm39)	S567R	probably benign	Het
Ndufaf2	A	G	13: 108,295,010 (GRCm39)	Y32H	probably damaging	Het
Or4c100	A	G	2: 88,356,079 (GRCm39)	T51A	probably benign	Het
Or52p2	A	G	7: 102,237,623 (GRCm39)	F109S	probably damaging	Het
Or5p4	T	A	7: 107,680,781 (GRCm39)	V260E	probably damaging	Het
Otoa	T	C	7: 120,754,358 (GRCm39)	S928P	probably damaging	Het
Oxct2a	T	C	4: 123,216,496 (GRCm39)	D295G	probably benign	Het
P4ha2	C	A	11: 54,015,846 (GRCm39)	T411K	probably benign	Het
Plcg2	A	T	8: 118,333,822 (GRCm39)	Q865L	probably benign	Het
Prepl	G	T	17: 85,385,932 (GRCm39)	T244K	possibly damaging	Het
Ptpro	A	T	6: 137,388,103 (GRCm39)	K776*	probably null	Het
Rc3h2	T	C	2: 37,279,844 (GRCm39)	K462E	possibly damaging	Het
Scn10a	A	G	9: 119,516,940 (GRCm39)		probably null	Het
Serpinb1c	A	G	13: 33,066,147 (GRCm39)	V266A	probably damaging	Het
Slc6a20b	T	A	9: 123,433,861 (GRCm39)	N326Y	probably damaging	Het
Spcs2	C	T	7: 99,508,038 (GRCm39)	G16D	possibly damaging	Het
Spns3	T	C	11: 72,390,321 (GRCm39)	D441G	possibly damaging	Het
Srsf4	A	G	4: 131,618,556 (GRCm39)	D49G	probably damaging	Het
Tec	A	T	5: 72,917,736 (GRCm39)	C494*	probably null	Het
Tecpr1	A	T	5: 144,141,476 (GRCm39)	Y798N	probably damaging	Het
Tex56	A	T	13: 35,116,613 (GRCm39)	T121S	possibly damaging	Het
Tmt1a	T	A	15: 100,202,987 (GRCm39)	F87Y	probably benign	Het
Trim56	C	T	5: 137,143,343 (GRCm39)	E58K	probably damaging	Het
Ttn	A	T	2: 76,626,478 (GRCm39)	D13146E	probably damaging	Het
Ube2q1	A	T	3: 89,686,790 (GRCm39)	K46*	probably null	Het
Ucn	G	T	5: 31,295,842 (GRCm39)	T8K	probably benign	Het
Usp25	T	C	16: 76,830,870 (GRCm39)		probably null	Het
Usp48	A	T	4: 137,343,144 (GRCm39)	Q430L	probably benign	Het
Usp48	A	T	4: 137,343,145 (GRCm39)		probably null	Het
Vill	A	T	9: 118,890,579 (GRCm39)	D164V	probably damaging	Het
Vmn2r91	T	A	17: 18,356,751 (GRCm39)	M806K	possibly damaging	Het
Wdfy4	T	A	14: 32,750,970 (GRCm39)	Y2256F	probably damaging	Het
Wsb1	A	G	11: 79,141,826 (GRCm39)	S64P	probably damaging	Het
Zc3h11a	C	A	1: 133,552,350 (GRCm39)	V586F	probably benign	Het
Zc3h12d	A	G	10: 7,729,014 (GRCm39)	D126G	probably damaging	Het
Zfp296	G	T	7: 19,313,637 (GRCm39)	C164F	possibly damaging	Het
Zfp442	T	A	2: 150,251,635 (GRCm39)	H89L	possibly damaging	Het
Zfp82	T	A	7: 29,756,312 (GRCm39)		probably null	Het
Zmynd8	A	G	2: 165,676,871 (GRCm39)	V249A	possibly damaging	Het

Other mutations in Nup153

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Nup153	APN	13	46,834,626 (GRCm39)	unclassified	probably benign
IGL01312:Nup153	APN	13	46,840,300 (GRCm39)	missense	probably benign	0.03
IGL01459:Nup153	APN	13	46,866,402 (GRCm39)	missense	possibly damaging	0.84
IGL01646:Nup153	APN	13	46,837,583 (GRCm39)	missense	possibly damaging	0.80
IGL03064:Nup153	APN	13	46,847,315 (GRCm39)	missense	probably benign
IGL03288:Nup153	APN	13	46,858,681 (GRCm39)	missense	possibly damaging	0.71
IGL03369:Nup153	APN	13	46,854,459 (GRCm39)	splice site	probably null
IGL03371:Nup153	APN	13	46,836,628 (GRCm39)	missense	probably benign	0.34
R0193:Nup153	UTSW	13	46,863,130 (GRCm39)	missense	probably benign	0.01
R0244:Nup153	UTSW	13	46,847,412 (GRCm39)	missense	probably benign	0.03
R0448:Nup153	UTSW	13	46,870,657 (GRCm39)	missense	probably benign	0.00
R0943:Nup153	UTSW	13	46,850,248 (GRCm39)	splice site	probably benign
R1219:Nup153	UTSW	13	46,840,695 (GRCm39)	missense	probably benign	0.01
R1381:Nup153	UTSW	13	46,842,657 (GRCm39)	missense	probably damaging	1.00
R1709:Nup153	UTSW	13	46,847,450 (GRCm39)	missense	probably damaging	1.00
R1727:Nup153	UTSW	13	46,847,261 (GRCm39)	missense	probably damaging	1.00
R1818:Nup153	UTSW	13	46,835,113 (GRCm39)	missense	possibly damaging	0.94
R1824:Nup153	UTSW	13	46,867,223 (GRCm39)	missense	probably damaging	1.00
R1928:Nup153	UTSW	13	46,854,502 (GRCm39)	missense	probably damaging	0.98
R2108:Nup153	UTSW	13	46,846,986 (GRCm39)	critical splice donor site	probably null
R2110:Nup153	UTSW	13	46,837,404 (GRCm39)	missense	probably benign	0.00
R2111:Nup153	UTSW	13	46,837,404 (GRCm39)	missense	probably benign	0.00
R2173:Nup153	UTSW	13	46,855,076 (GRCm39)	splice site	probably benign
R2231:Nup153	UTSW	13	46,863,103 (GRCm39)	critical splice donor site	probably null
R3879:Nup153	UTSW	13	46,837,436 (GRCm39)	missense	probably damaging	1.00
R4634:Nup153	UTSW	13	46,840,706 (GRCm39)	missense	possibly damaging	0.49
R4662:Nup153	UTSW	13	46,840,750 (GRCm39)	missense	possibly damaging	0.68
R5011:Nup153	UTSW	13	46,840,879 (GRCm39)	missense	possibly damaging	0.62
R5023:Nup153	UTSW	13	46,834,585 (GRCm39)	unclassified	probably benign
R5069:Nup153	UTSW	13	46,863,268 (GRCm39)	missense	probably benign	0.05
R5137:Nup153	UTSW	13	46,837,629 (GRCm39)	missense	probably damaging	0.99
R5323:Nup153	UTSW	13	46,870,682 (GRCm39)	missense	probably benign	0.19
R5345:Nup153	UTSW	13	46,840,341 (GRCm39)	nonsense	probably null
R5536:Nup153	UTSW	13	46,836,485 (GRCm39)	missense	probably benign	0.01
R5613:Nup153	UTSW	13	46,840,747 (GRCm39)	missense	possibly damaging	0.64
R5620:Nup153	UTSW	13	46,837,482 (GRCm39)	nonsense	probably null
R5764:Nup153	UTSW	13	46,840,803 (GRCm39)	missense	probably damaging	0.97
R5849:Nup153	UTSW	13	46,840,452 (GRCm39)	missense	probably damaging	0.99
R6454:Nup153	UTSW	13	46,863,136 (GRCm39)	splice site	probably null
R6701:Nup153	UTSW	13	46,840,541 (GRCm39)	missense	probably benign	0.00
R6721:Nup153	UTSW	13	46,854,502 (GRCm39)	missense	probably damaging	0.98
R6737:Nup153	UTSW	13	46,842,682 (GRCm39)	missense	probably benign	0.08
R6789:Nup153	UTSW	13	46,870,792 (GRCm39)	missense	probably damaging	1.00
R6820:Nup153	UTSW	13	46,863,459 (GRCm39)	missense	probably benign	0.09
R6837:Nup153	UTSW	13	46,847,527 (GRCm39)	missense	probably damaging	1.00
R6913:Nup153	UTSW	13	46,853,192 (GRCm39)	missense	probably damaging	1.00
R7052:Nup153	UTSW	13	46,840,949 (GRCm39)	missense	probably benign	0.09
R7091:Nup153	UTSW	13	46,837,404 (GRCm39)	missense	probably benign
R7357:Nup153	UTSW	13	46,870,642 (GRCm39)	missense	probably benign	0.32
R7389:Nup153	UTSW	13	46,854,463 (GRCm39)	critical splice donor site	probably null
R7423:Nup153	UTSW	13	46,850,120 (GRCm39)	critical splice donor site	probably null
R7453:Nup153	UTSW	13	46,834,657 (GRCm39)	missense	probably damaging	1.00
R7611:Nup153	UTSW	13	46,840,798 (GRCm39)	missense	probably benign	0.01
R7876:Nup153	UTSW	13	46,835,084 (GRCm39)	missense	probably benign
R7909:Nup153	UTSW	13	46,847,056 (GRCm39)	missense	probably damaging	1.00
R7938:Nup153	UTSW	13	46,842,855 (GRCm39)	splice site	probably null
R8735:Nup153	UTSW	13	46,881,027 (GRCm39)	start gained	probably benign
R8804:Nup153	UTSW	13	46,840,635 (GRCm39)	missense	probably benign	0.04
R8916:Nup153	UTSW	13	46,863,462 (GRCm39)	nonsense	probably null
R9025:Nup153	UTSW	13	46,837,709 (GRCm39)	missense	probably benign	0.36
R9217:Nup153	UTSW	13	46,835,138 (GRCm39)	missense	probably damaging	1.00
R9390:Nup153	UTSW	13	46,840,642 (GRCm39)	missense	probably damaging	1.00
R9701:Nup153	UTSW	13	46,840,211 (GRCm39)	missense	probably benign	0.01
R9714:Nup153	UTSW	13	46,866,435 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TGTCATACTGCCTAGAAACATACAC -3'
(R):5'- AGCATACTGCCATCAGCTCC -3'

Sequencing Primer
(F):5'- CCCTGAATTTTTAAAAGCCTCACAG -3'
(R):5'- CTTTCCACCGTGAGTACT -3'

Posted On

2016-04-15