Mutagenetix > Incidental Mutation

Incidental Mutation 'R4678:Nup98'

349765

Institutional Source

Beutler Lab

Gene Symbol

Nup98

Ensembl Gene

ENSMUSG00000063550

Gene Name

nucleoporin 98

Synonyms

Nup96

MMRRC Submission

041931-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101768607-101859359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101834038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 308 (L308H)

Ref Sequence

ENSEMBL: ENSMUSP00000147486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070165] [ENSMUST00000210682] [ENSMUST00000211005] [ENSMUST00000211022] [ENSMUST00000211235]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070165
AA Change: L308H

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068530
Gene: ENSMUSG00000063550
AA Change: L308H

Domain	Start	End	E-Value	Type
Pfam:Nucleoporin_FG	3	88	4.6e-4	PFAM
Pfam:Nucleoporin_FG	69	170	3.4e-6	PFAM
Pfam:Nucleoporin_FG	210	307	6.1e-5	PFAM
Pfam:Nucleoporin_FG	246	332	2.2e-7	PFAM
Pfam:Nucleoporin_FG	266	359	1.2e-7	PFAM
Pfam:Nucleoporin_FG	309	425	1.8e-2	PFAM
Pfam:Nucleoporin_FG	398	497	2.2e-2	PFAM
low complexity region	594	610	N/A	INTRINSIC
low complexity region	673	684	N/A	INTRINSIC
Pfam:Nucleoporin2	740	880	5.4e-45	PFAM
PDB:1KO6\|D	881	925	1e-16	PDB
low complexity region	926	935	N/A	INTRINSIC
low complexity region	1033	1042	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209242

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210682
AA Change: L308H

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211005
AA Change: L308H

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211022
AA Change: L308H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211235
AA Change: L308H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000211764

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for a null allele die in utero with a severe growth delay and improper gastrulation and nuclear pore complex assembly/function. Heterozygotes for another null allele show impaired IFN-mediated responses, reduced T and B cell subsets in lymphoid organs and altered T and B cell functions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	T	C	16: 88,860,873 (GRCm39)		probably benign	Het
Abcc4	A	G	14: 118,865,103 (GRCm39)	S308P	probably damaging	Het
Agr3	G	T	12: 35,997,832 (GRCm39)	V115L	probably damaging	Het
Ahr	A	T	12: 35,557,463 (GRCm39)	I319N	probably damaging	Het
Alpk1	A	T	3: 127,473,507 (GRCm39)	V832D	probably damaging	Het
Ano1	T	C	7: 144,223,289 (GRCm39)	T78A	probably benign	Het
Apob	G	A	12: 8,045,585 (GRCm39)	G897D	probably damaging	Het
Arfgef1	A	G	1: 10,212,891 (GRCm39)	F1677L	probably benign	Het
Arhgap40	G	T	2: 158,374,226 (GRCm39)	G217W	probably benign	Het
Arhgef4	A	G	1: 34,761,749 (GRCm39)	E335G	unknown	Het
Calcoco2	T	C	11: 95,994,374 (GRCm39)	T60A	probably damaging	Het
Catsperg1	A	T	7: 28,889,721 (GRCm39)	S741T	probably benign	Het
Ccdc181	T	G	1: 164,105,846 (GRCm39)	I27S	probably damaging	Het
Ceacam9	A	T	7: 16,459,334 (GRCm39)	Y211F	probably damaging	Het
Cep41	T	C	6: 30,671,318 (GRCm39)		probably null	Het
Cercam	T	A	2: 29,759,689 (GRCm39)	L45Q	probably damaging	Het
Cnnm2	G	A	19: 46,751,685 (GRCm39)	V492M	possibly damaging	Het
Cntn3	A	G	6: 102,180,981 (GRCm39)	V738A	probably damaging	Het
Coq8a	T	C	1: 179,997,646 (GRCm39)	E351G	probably damaging	Het
Cyp3a57	T	C	5: 145,307,538 (GRCm39)		probably null	Het
Dbn1	T	C	13: 55,623,071 (GRCm39)	I471V	probably benign	Het
Ddx21	G	T	10: 62,429,782 (GRCm39)	Q321K	probably benign	Het
Dhx8	T	C	11: 101,630,634 (GRCm39)	V347A	probably damaging	Het
Dkc1	A	G	X: 74,144,598 (GRCm39)	I215V	probably benign	Homo
Dlg2	A	G	7: 92,077,788 (GRCm39)	I685V	possibly damaging	Het
Dusp11	A	C	6: 85,930,363 (GRCm39)	N140K	probably damaging	Het
Ece2	A	G	16: 20,459,468 (GRCm39)	K454R	probably damaging	Het
Eno4	T	A	19: 58,935,181 (GRCm39)	V131E	probably damaging	Het
Enpep	A	G	3: 129,097,362 (GRCm39)		probably null	Het
Etv1	T	C	12: 38,885,219 (GRCm39)	Y236H	probably damaging	Het
F2rl2	A	G	13: 95,837,140 (GRCm39)	T62A	probably benign	Het
Fbxl21	T	C	13: 56,684,862 (GRCm39)	V296A	probably damaging	Het
Fig4	T	C	10: 41,148,994 (GRCm39)	I153V	probably benign	Het
Fis1	T	A	5: 136,991,951 (GRCm39)	N41K	possibly damaging	Het
Fras1	T	A	5: 96,848,427 (GRCm39)	M1814K	probably benign	Het
Frem2	T	A	3: 53,451,792 (GRCm39)	I2266F	probably benign	Het
Gm10330	A	T	12: 23,829,843 (GRCm39)	*113R	probably null	Het
Gm12185	T	A	11: 48,806,367 (GRCm39)	I275F	probably benign	Het
Gsdme	A	T	6: 50,206,304 (GRCm39)	C180S	possibly damaging	Het
Herc1	A	G	9: 66,323,551 (GRCm39)	E1355G	probably benign	Het
Hnrnpm	A	T	17: 33,869,185 (GRCm39)	I453N	possibly damaging	Het
Hspb9	T	C	11: 100,604,896 (GRCm39)	L74P	probably damaging	Het
Ift46	C	A	9: 44,695,260 (GRCm39)	Y85*	probably null	Het
Insyn2b	T	G	11: 34,353,227 (GRCm39)	L423R	probably damaging	Het
Ints3	T	C	3: 90,315,817 (GRCm39)	T316A	possibly damaging	Het
Isg20	C	T	7: 78,564,076 (GRCm39)		probably benign	Het
Itga11	T	A	9: 62,642,639 (GRCm39)	N187K	probably damaging	Het
Klhl9	G	A	4: 88,639,161 (GRCm39)	T360I	probably damaging	Het
Krt39	T	A	11: 99,411,826 (GRCm39)	I87F	probably benign	Het
Krtap19-4	G	A	16: 88,681,734 (GRCm39)	S74F	unknown	Het
Lgi1	G	A	19: 38,289,737 (GRCm39)	V268I	probably damaging	Het
Lrrc46	G	A	11: 96,925,719 (GRCm39)	P248S	probably benign	Het
Lrrn4	C	T	2: 132,721,488 (GRCm39)	V110I	probably benign	Het
Mamstr	C	A	7: 45,294,116 (GRCm39)		probably benign	Het
Micu3	T	A	8: 40,833,718 (GRCm39)	F451I	probably damaging	Het
Mid1	C	A	X: 168,768,044 (GRCm39)	D130E	possibly damaging	Het
Mkks	T	C	2: 136,722,201 (GRCm39)	T319A	probably benign	Het
Mob3c	A	G	4: 115,690,968 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,230,554 (GRCm39)	E1192G	probably benign	Het
Ndc80	A	G	17: 71,827,753 (GRCm39)		probably null	Het
Nfx1	A	G	4: 41,012,070 (GRCm39)	K807E	probably benign	Het
Nrxn1	A	T	17: 90,930,850 (GRCm39)	L181Q	probably damaging	Het
Nsun7	A	G	5: 66,418,407 (GRCm39)	S46G	probably benign	Het
Or4c115	C	A	2: 88,927,860 (GRCm39)	W137L	probably benign	Het
Or52j3	T	C	7: 102,836,098 (GRCm39)	F97L	probably damaging	Het
Or6f2	T	C	7: 139,756,141 (GRCm39)	V36A	probably benign	Het
Or8k32	T	C	2: 86,369,077 (GRCm39)	M61V	possibly damaging	Het
Palb2	T	C	7: 121,726,589 (GRCm39)	K427R	probably damaging	Het
Pcdha1	C	A	18: 37,063,965 (GRCm39)	Q210K	probably benign	Het
Pcdhb2	T	C	18: 37,429,260 (GRCm39)	L411P	probably damaging	Het
Pde4dip	C	A	3: 97,602,321 (GRCm39)	D2252Y	probably damaging	Het
Plekhg4	T	A	8: 106,107,003 (GRCm39)	Y899*	probably null	Het
Plxnb2	G	T	15: 89,045,131 (GRCm39)	T1105K	probably benign	Het
Psmd2	T	C	16: 20,478,719 (GRCm39)	V606A	probably damaging	Het
Ptprq	A	T	10: 107,521,043 (GRCm39)	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,506,552 (GRCm39)	E158G	probably damaging	Het
Rasip1	T	A	7: 45,277,247 (GRCm39)	H18Q	possibly damaging	Het
Rassf8	A	G	6: 145,760,808 (GRCm39)	K45E	probably damaging	Het
Rrn3	T	A	16: 13,613,940 (GRCm39)	M284K	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rtn2	C	A	7: 19,027,820 (GRCm39)	N403K	probably damaging	Het
Rusc1	A	G	3: 88,997,027 (GRCm39)	W462R	probably damaging	Het
Sdc3	T	A	4: 130,545,907 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc12a2	T	A	18: 58,039,032 (GRCm39)	C537*	probably null	Het
Slc4a2	G	A	5: 24,639,238 (GRCm39)		probably null	Het
Spsb4	T	A	9: 96,877,744 (GRCm39)	D193V	probably damaging	Het
Strn	A	C	17: 78,984,780 (GRCm39)	F288V	probably damaging	Het
Stx18	G	A	5: 38,293,712 (GRCm39)		probably benign	Het
Tfcp2l1	T	A	1: 118,596,378 (GRCm39)	M371K	probably benign	Het
Thnsl1	A	G	2: 21,216,352 (GRCm39)		probably null	Het
Tlr11	C	T	14: 50,598,439 (GRCm39)	H142Y	possibly damaging	Het
Tor1aip2	T	A	1: 155,940,780 (GRCm39)	I362K	probably damaging	Het
Trmt13	T	C	3: 116,383,404 (GRCm39)	K125E	probably damaging	Het
Trpm8	T	C	1: 88,264,851 (GRCm39)	V320A	probably benign	Het
Ubr3	A	T	2: 69,766,263 (GRCm39)	H377L	probably damaging	Het
Usp8	A	G	2: 126,567,349 (GRCm39)	R123G	probably null	Het
Vim	T	A	2: 13,579,775 (GRCm39)	L178Q	probably damaging	Het
Vmn1r231	A	C	17: 21,110,489 (GRCm39)	V142G	possibly damaging	Het
Vmn1r83	A	G	7: 12,055,697 (GRCm39)	M120T	possibly damaging	Het
Vwce	G	T	19: 10,642,012 (GRCm39)	V913F	possibly damaging	Het
Zbtb18	C	A	1: 177,275,285 (GRCm39)	T215K	probably benign	Het
Zeb2	A	T	2: 44,886,353 (GRCm39)	D857E	probably damaging	Het
Zfp106	G	A	2: 120,364,221 (GRCm39)	H729Y	probably damaging	Het
Zfp977	C	A	7: 42,229,437 (GRCm39)	A363S	probably benign	Het

Other mutations in Nup98

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Nup98	APN	7	101,844,194 (GRCm39)	missense	probably damaging	1.00
IGL00789:Nup98	APN	7	101,803,178 (GRCm39)	missense	probably benign
IGL00798:Nup98	APN	7	101,796,411 (GRCm39)	missense	probably damaging	1.00
IGL01562:Nup98	APN	7	101,835,125 (GRCm39)	missense	probably damaging	0.99
IGL01942:Nup98	APN	7	101,843,918 (GRCm39)	missense	probably damaging	1.00
IGL02109:Nup98	APN	7	101,832,693 (GRCm39)	missense	probably benign	0.37
IGL02490:Nup98	APN	7	101,801,573 (GRCm39)	missense	probably damaging	1.00
IGL03184:Nup98	APN	7	101,832,752 (GRCm39)	missense	probably damaging	0.99
PIT4519001:Nup98	UTSW	7	101,784,171 (GRCm39)	missense	probably benign	0.00
R0040:Nup98	UTSW	7	101,841,241 (GRCm39)	missense	probably damaging	1.00
R0133:Nup98	UTSW	7	101,788,859 (GRCm39)	critical splice acceptor site	probably null
R0309:Nup98	UTSW	7	101,801,635 (GRCm39)	missense	probably null
R0471:Nup98	UTSW	7	101,788,004 (GRCm39)	missense	probably benign	0.13
R0538:Nup98	UTSW	7	101,835,892 (GRCm39)	missense	probably damaging	1.00
R0650:Nup98	UTSW	7	101,801,660 (GRCm39)	missense	probably damaging	1.00
R0730:Nup98	UTSW	7	101,809,923 (GRCm39)	missense	probably damaging	1.00
R0881:Nup98	UTSW	7	101,809,923 (GRCm39)	missense	probably damaging	1.00
R0900:Nup98	UTSW	7	101,809,923 (GRCm39)	missense	probably damaging	1.00
R1120:Nup98	UTSW	7	101,809,923 (GRCm39)	missense	probably damaging	1.00
R1159:Nup98	UTSW	7	101,809,923 (GRCm39)	missense	probably damaging	1.00
R1469:Nup98	UTSW	7	101,788,008 (GRCm39)	missense	probably benign	0.00
R1469:Nup98	UTSW	7	101,788,008 (GRCm39)	missense	probably benign	0.00
R1470:Nup98	UTSW	7	101,796,513 (GRCm39)	missense	probably damaging	0.98
R1470:Nup98	UTSW	7	101,796,513 (GRCm39)	missense	probably damaging	0.98
R1545:Nup98	UTSW	7	101,784,087 (GRCm39)	missense	possibly damaging	0.77
R1775:Nup98	UTSW	7	101,784,144 (GRCm39)	missense	probably benign	0.03
R1889:Nup98	UTSW	7	101,809,923 (GRCm39)	missense	probably damaging	1.00
R2080:Nup98	UTSW	7	101,829,631 (GRCm39)	missense	probably damaging	0.96
R3423:Nup98	UTSW	7	101,834,084 (GRCm39)	missense	probably benign	0.03
R4361:Nup98	UTSW	7	101,794,921 (GRCm39)	missense	probably damaging	1.00
R4864:Nup98	UTSW	7	101,802,403 (GRCm39)	missense	possibly damaging	0.94
R4910:Nup98	UTSW	7	101,845,007 (GRCm39)	missense	unknown
R4924:Nup98	UTSW	7	101,784,185 (GRCm39)	missense	probably damaging	1.00
R5068:Nup98	UTSW	7	101,794,862 (GRCm39)	missense	probably benign	0.00
R5069:Nup98	UTSW	7	101,794,862 (GRCm39)	missense	probably benign	0.00
R5233:Nup98	UTSW	7	101,845,029 (GRCm39)	missense	unknown
R5779:Nup98	UTSW	7	101,801,568 (GRCm39)	missense	probably benign
R5922:Nup98	UTSW	7	101,803,224 (GRCm39)	missense	probably damaging	1.00
R6010:Nup98	UTSW	7	101,829,636 (GRCm39)	missense	probably damaging	1.00
R6039:Nup98	UTSW	7	101,784,002 (GRCm39)	missense	probably benign
R6039:Nup98	UTSW	7	101,784,002 (GRCm39)	missense	probably benign
R6343:Nup98	UTSW	7	101,843,957 (GRCm39)	missense	possibly damaging	0.90
R6364:Nup98	UTSW	7	101,825,522 (GRCm39)	missense	probably damaging	1.00
R6462:Nup98	UTSW	7	101,844,223 (GRCm39)	missense	probably benign	0.03
R6577:Nup98	UTSW	7	101,778,053 (GRCm39)	splice site	probably null
R6900:Nup98	UTSW	7	101,835,169 (GRCm39)	missense	probably damaging	1.00
R7205:Nup98	UTSW	7	101,844,248 (GRCm39)	missense	unknown
R7218:Nup98	UTSW	7	101,841,107 (GRCm39)	splice site	probably null
R7235:Nup98	UTSW	7	101,774,491 (GRCm39)	missense	probably damaging	1.00
R7307:Nup98	UTSW	7	101,784,002 (GRCm39)	missense	probably benign
R7402:Nup98	UTSW	7	101,784,144 (GRCm39)	missense	probably benign	0.00
R7427:Nup98	UTSW	7	101,784,208 (GRCm39)	splice site	probably null
R7428:Nup98	UTSW	7	101,784,208 (GRCm39)	splice site	probably null
R7584:Nup98	UTSW	7	101,825,596 (GRCm39)	missense	probably benign	0.02
R7646:Nup98	UTSW	7	101,803,242 (GRCm39)	missense	probably benign	0.01
R7648:Nup98	UTSW	7	101,773,404 (GRCm39)	missense	possibly damaging	0.94
R7742:Nup98	UTSW	7	101,802,464 (GRCm39)	splice site	probably null
R7827:Nup98	UTSW	7	101,773,569 (GRCm39)	missense	probably benign	0.10
R7884:Nup98	UTSW	7	101,825,556 (GRCm39)	missense	probably benign	0.12
R7943:Nup98	UTSW	7	101,844,029 (GRCm39)	missense	probably benign	0.10
R8034:Nup98	UTSW	7	101,794,930 (GRCm39)	critical splice acceptor site	probably null
R8952:Nup98	UTSW	7	101,835,859 (GRCm39)	missense	probably damaging	1.00
R9060:Nup98	UTSW	7	101,783,895 (GRCm39)	missense	probably damaging	1.00
R9099:Nup98	UTSW	7	101,844,173 (GRCm39)	missense	probably damaging	0.98
R9146:Nup98	UTSW	7	101,788,037 (GRCm39)	missense	probably benign	0.02
R9148:Nup98	UTSW	7	101,788,037 (GRCm39)	missense	probably benign	0.02
R9223:Nup98	UTSW	7	101,834,167 (GRCm39)	missense	possibly damaging	0.82
R9246:Nup98	UTSW	7	101,788,037 (GRCm39)	missense	probably benign	0.02
R9249:Nup98	UTSW	7	101,788,037 (GRCm39)	missense	probably benign	0.02
R9272:Nup98	UTSW	7	101,788,037 (GRCm39)	missense	probably benign	0.02
R9274:Nup98	UTSW	7	101,788,037 (GRCm39)	missense	probably benign	0.02
R9283:Nup98	UTSW	7	101,788,037 (GRCm39)	missense	probably benign	0.02
R9326:Nup98	UTSW	7	101,788,037 (GRCm39)	missense	probably benign	0.02
R9466:Nup98	UTSW	7	101,818,611 (GRCm39)	missense	probably benign	0.05
R9492:Nup98	UTSW	7	101,778,252 (GRCm39)	missense	probably benign	0.11
R9661:Nup98	UTSW	7	101,782,019 (GRCm39)	nonsense	probably null
T0970:Nup98	UTSW	7	101,835,959 (GRCm39)	unclassified	probably benign
X0054:Nup98	UTSW	7	101,796,415 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGTCTGATACAAAATCCAGGTC -3'
(R):5'- CAGACGATTGTTGGCTCATTTG -3'

Sequencing Primer
(F):5'- CAGGTCTTCATTATTTGAAAGAAAGG -3'
(R):5'- GGCTCATTTGAGAGAATTTTTGGG -3'

Posted On

2015-10-08