Mutagenetix > Incidental Mutation

Incidental Mutation 'R1818:Nup153'

204640

Institutional Source

Beutler Lab

Gene Symbol

Nup153

Ensembl Gene

ENSMUSG00000021374

Gene Name

nucleoporin 153

Synonyms

B130015D15Rik

MMRRC Submission

039846-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R1818 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46833381-46881416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46835113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1397 (N1397K)

Ref Sequence

ENSEMBL: ENSMUSP00000021803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021803] [ENSMUST00000099547]

AlphaFold

E9Q3G8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021803
AA Change: N1397K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374
AA Change: N1397K

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

probably benign
Transcript: ENSMUST00000099547

SMART Domains

Protein: ENSMUSP00000097144
Gene: ENSMUSG00000069237

Domain	Start	End	E-Value	Type
low complexity region	31	56	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	168	190	N/A	INTRINSIC
Pfam:RDD	229	389	2.9e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182914

Coding Region Coverage

1x: 97.3%
3x: 96.6%
10x: 94.5%
20x: 90.4%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,857 (GRCm39)		probably null	Het
Adam6b	T	A	12: 113,454,876 (GRCm39)	N564K	probably benign	Het
Ahi1	A	G	10: 20,864,461 (GRCm39)	Y731C	probably damaging	Het
Ankk1	A	G	9: 49,331,725 (GRCm39)	Y190H	probably benign	Het
Ankmy1	T	A	1: 92,814,553 (GRCm39)	D318V	probably benign	Het
Ankrd33b	G	A	15: 31,367,267 (GRCm39)	A91V	probably damaging	Het
Ap3b1	A	G	13: 94,608,212 (GRCm39)	N561S	possibly damaging	Het
Apob	A	G	12: 8,056,834 (GRCm39)	N1739S	probably damaging	Het
Apob	A	G	12: 8,063,064 (GRCm39)	T236A	possibly damaging	Het
Birc6	G	A	17: 74,956,844 (GRCm39)	A3593T	probably damaging	Het
Bnc2	A	G	4: 84,210,111 (GRCm39)	F778L	possibly damaging	Het
Capn2	T	A	1: 182,300,162 (GRCm39)	K609N	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Card11	A	T	5: 140,871,315 (GRCm39)	D729E	probably benign	Het
Ccl20	A	G	1: 83,095,529 (GRCm39)	Y30C	probably damaging	Het
Cd209a	G	A	8: 3,795,576 (GRCm39)	T106I	probably damaging	Het
Cebpz	A	G	17: 79,242,805 (GRCm39)	L283P	probably damaging	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Clec4e	T	A	6: 123,262,452 (GRCm39)	D155V	possibly damaging	Het
Col25a1	G	A	3: 130,379,386 (GRCm39)		probably null	Het
Cyp2j11	A	T	4: 96,185,976 (GRCm39)	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,768,673 (GRCm39)	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Denr	T	A	5: 124,055,283 (GRCm39)	D49E	probably benign	Het
Dnaaf3	A	T	7: 4,526,568 (GRCm39)		probably null	Het
Dnaaf3	G	T	7: 4,526,569 (GRCm39)	L503M	probably benign	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dnai4	A	G	4: 102,929,854 (GRCm39)	V56A	possibly damaging	Het
Efcab3	T	A	11: 104,612,333 (GRCm39)	L652Q	probably benign	Het
Ehd4	C	T	2: 119,932,885 (GRCm39)	W180*	probably null	Het
Ephb2	A	G	4: 136,382,647 (GRCm39)	S984P	probably benign	Het
Eva1a	T	C	6: 82,048,125 (GRCm39)	M1T	probably null	Het
Fam90a1a	C	G	8: 22,453,787 (GRCm39)	P381A	possibly damaging	Het
Fam90a1a	C	A	8: 22,453,788 (GRCm39)	P381Q	probably damaging	Het
Flnc	T	C	6: 29,457,447 (GRCm39)	Y2382H	probably damaging	Het
Flrt1	A	T	19: 7,072,711 (GRCm39)	L612Q	probably damaging	Het
Fubp1	T	A	3: 151,927,806 (GRCm39)	N419K	probably damaging	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Gm4847	T	A	1: 166,465,788 (GRCm39)	H267L	probably damaging	Het
Golga4	T	G	9: 118,402,055 (GRCm39)	V91G	probably damaging	Het
Hip1r	T	C	5: 124,134,018 (GRCm39)		probably null	Het
Ice2	A	G	9: 69,339,383 (GRCm39)	S967G	probably benign	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Impdh2	T	G	9: 108,440,411 (GRCm39)		probably null	Het
Inmt	C	A	6: 55,150,404 (GRCm39)	V78F	possibly damaging	Het
Inpp5e	T	C	2: 26,287,886 (GRCm39)	S637G	probably benign	Het
Kansl1	T	C	11: 104,233,283 (GRCm39)	H748R	possibly damaging	Het
Kif28	T	C	1: 179,533,319 (GRCm39)	K541E	possibly damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Kifc2	T	C	15: 76,550,281 (GRCm39)	V480A	probably damaging	Het
Lrrc74a	T	C	12: 86,784,484 (GRCm39)	Y71H	probably damaging	Het
Ly75	T	G	2: 60,142,121 (GRCm39)	T1330P	probably damaging	Het
Macf1	A	G	4: 123,270,210 (GRCm39)	V6647A	probably damaging	Het
Mgat1	T	C	11: 49,152,111 (GRCm39)	I198T	possibly damaging	Het
Morc3	A	G	16: 93,652,398 (GRCm39)	Y367C	probably damaging	Het
Mtfr1	A	G	3: 19,269,837 (GRCm39)	T162A	probably damaging	Het
Myrip	C	T	9: 120,217,228 (GRCm39)	S49L	probably damaging	Het
Or5h26	T	C	16: 58,988,243 (GRCm39)	K88E	probably benign	Het
Or6x1	T	C	9: 40,098,558 (GRCm39)	V49A	probably benign	Het
Or8b36	T	C	9: 37,937,803 (GRCm39)	S234P	probably damaging	Het
Or8g21	T	C	9: 38,905,902 (GRCm39)	I276M	possibly damaging	Het
Pabpc2	G	T	18: 39,907,163 (GRCm39)	V143L	probably damaging	Het
Pals2	T	G	6: 50,140,411 (GRCm39)	F144V	probably benign	Het
Panx3	T	C	9: 37,575,322 (GRCm39)	K180R	probably benign	Het
Patj	G	A	4: 98,511,885 (GRCm39)	V144M	possibly damaging	Het
Pde1c	T	A	6: 56,103,877 (GRCm39)	K651*	probably null	Het
Pde4c	A	G	8: 71,179,638 (GRCm39)	H63R	probably benign	Het
Pdha2	T	A	3: 140,916,960 (GRCm39)	K183*	probably null	Het
Pkd1l3	T	A	8: 110,375,038 (GRCm39)	C1504S	probably benign	Het
Plbd2	A	T	5: 120,625,574 (GRCm39)		probably null	Het
Poteg	G	A	8: 27,940,195 (GRCm39)	W121*	probably null	Het
Prf1	C	A	10: 61,138,762 (GRCm39)	T240N	probably damaging	Het
Ptprf	A	G	4: 118,067,068 (GRCm39)	Y1883H	probably damaging	Het
Puf60	T	C	15: 75,943,323 (GRCm39)	T322A	possibly damaging	Het
Rev3l	A	G	10: 39,704,420 (GRCm39)	I281M	probably benign	Het
Rufy1	T	C	11: 50,305,399 (GRCm39)	I305V	probably benign	Het
Shisa9	A	C	16: 12,085,426 (GRCm39)	Q329P	probably damaging	Het
Siglech	G	A	7: 55,418,332 (GRCm39)	R100Q	probably damaging	Het
Slc13a5	T	A	11: 72,144,169 (GRCm39)	Y303F	probably benign	Het
Snx6	C	T	12: 54,830,259 (GRCm39)	V67I	possibly damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Tecpr2	A	G	12: 110,892,888 (GRCm39)	Y310C	probably damaging	Het
Top1	T	A	2: 160,557,643 (GRCm39)	L575Q	probably damaging	Het
Usp16	C	T	16: 87,276,020 (GRCm39)	R452*	probably null	Het
Utrn	A	G	10: 12,585,708 (GRCm39)		probably null	Het
Vps13b	G	A	15: 35,877,723 (GRCm39)	G2899E	probably benign	Het
Wipi2	T	A	5: 142,643,963 (GRCm39)	L115Q	probably damaging	Het
Zbtb7c	A	C	18: 76,270,596 (GRCm39)	E228A	probably damaging	Het
Zfp26	T	C	9: 20,353,487 (GRCm39)	T101A	probably benign	Het
Zfp593	A	T	4: 133,972,394 (GRCm39)		probably null	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp948	G	A	17: 21,805,069 (GRCm39)	V20M	probably damaging	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	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
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
R4932:Nup153	UTSW	13	46,866,213 (GRCm39)	nonsense	probably null
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'- ATGCCCAAGACAGAGGACTC -3'
(R):5'- GTCACTGCTGGATGACAATTTGC -3'

Sequencing Primer
(F):5'- GAGGACTCATACCATTTAAAATGACC -3'
(R):5'- CTAGACTGGCCAGGAACTCTTTAG -3'

Posted On

2014-06-23