Mutagenetix > Incidental Mutation

Incidental Mutation 'R5068:Nup98'

388444

Institutional Source

Beutler Lab

Gene Symbol

Nup98

Ensembl Gene

ENSMUSG00000063550

Gene Name

nucleoporin 98

Synonyms

Nup96

MMRRC Submission

042658-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101768607-101859359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101794862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 882 (T882A)

Ref Sequence

ENSEMBL: ENSMUSP00000147454 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070165
AA Change: T899A

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

SMART Domains

Protein: ENSMUSP00000068530
Gene: ENSMUSG00000063550
AA Change: T899A

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

probably benign
Transcript: ENSMUST00000210682
AA Change: T899A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211005
AA Change: T899A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000211022
AA Change: T882A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000211235
AA Change: T882A

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
6030468B19Rik	A	G	11: 117,693,701 (GRCm39)	Y56C	possibly damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Add2	T	A	6: 86,084,440 (GRCm39)	L496Q	probably damaging	Het
Akt1s1	T	C	7: 44,499,432 (GRCm39)		probably null	Het
Als2	G	T	1: 59,250,433 (GRCm39)	P437Q	probably benign	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd17	T	C	5: 90,402,667 (GRCm39)	R1464G	probably damaging	Het
Ankrd24	T	C	10: 81,475,699 (GRCm39)	S121P	possibly damaging	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Bnip3l	T	C	14: 67,237,081 (GRCm39)	E57G	possibly damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cc2d1b	T	C	4: 108,480,661 (GRCm39)	V27A	possibly damaging	Het
Cdc37	T	C	9: 21,061,099 (GRCm39)	T19A	probably damaging	Het
Cep152	T	C	2: 125,413,736 (GRCm39)	I1199V	probably benign	Het
Chd6	G	T	2: 160,808,289 (GRCm39)	L1642I	possibly damaging	Het
Chst13	T	C	6: 90,286,551 (GRCm39)	E137G	possibly damaging	Het
Cnrip1	A	G	11: 17,004,687 (GRCm39)	D79G	probably damaging	Het
Dars2	A	T	1: 160,869,483 (GRCm39)	C589S	probably benign	Het
Dhx15	T	G	5: 52,327,409 (GRCm39)	I102L	possibly damaging	Het
Dip2a	A	G	10: 76,153,877 (GRCm39)	L151P	possibly damaging	Het
Dlc1	T	C	8: 37,405,184 (GRCm39)	T202A	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dlgap4	T	C	2: 156,549,031 (GRCm39)	F464L	probably benign	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Dthd1	C	A	5: 62,976,059 (GRCm39)	D244E	probably benign	Het
Dtl	A	T	1: 191,300,485 (GRCm39)	D126E	probably damaging	Het
Ell2	A	G	13: 75,911,737 (GRCm39)	N341S	probably benign	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Erbb4	A	T	1: 68,083,061 (GRCm39)		probably null	Het
Erc2	A	T	14: 28,024,900 (GRCm39)	H593L	possibly damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Fyn	A	G	10: 39,402,839 (GRCm39)	K204E	probably damaging	Het
Gm4847	A	T	1: 166,465,953 (GRCm39)	F212Y	possibly damaging	Het
Gpc5	T	C	14: 115,654,676 (GRCm39)	*499R	probably null	Het
Hcn4	T	C	9: 58,767,304 (GRCm39)	L955P	unknown	Het
Hook2	C	A	8: 85,720,028 (GRCm39)	L111I	possibly damaging	Het
Hook3	C	T	8: 26,585,785 (GRCm39)		probably null	Het
Hvcn1	T	C	5: 122,371,544 (GRCm39)	F28S	probably damaging	Het
Igkv6-32	A	G	6: 70,051,267 (GRCm39)	F30L	possibly damaging	Het
Inpp5b	G	A	4: 124,636,442 (GRCm39)		probably null	Het
Itgb2	G	A	10: 77,384,595 (GRCm39)	A239T	probably damaging	Het
Kcnrg	T	C	14: 61,845,266 (GRCm39)	L102P	probably damaging	Het
Kif16b	A	T	2: 142,553,627 (GRCm39)	M1068K	probably benign	Het
Kifc3	T	C	8: 95,836,844 (GRCm39)	R109G	possibly damaging	Het
Klhl28	A	T	12: 65,004,486 (GRCm39)	M9K	probably benign	Het
Kptn	T	C	7: 15,857,027 (GRCm39)	Y172H	probably damaging	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Mrc1	T	A	2: 14,311,327 (GRCm39)	M868K	probably benign	Het
Mterf1a	T	C	5: 3,941,854 (GRCm39)	N5D	probably benign	Het
Muc5b	T	C	7: 141,412,345 (GRCm39)	S1764P	unknown	Het
Myo9b	T	C	8: 71,801,699 (GRCm39)	Y1275H	probably damaging	Het
Nek1	T	C	8: 61,469,330 (GRCm39)	I129T	probably damaging	Het
Net1	G	A	13: 3,936,740 (GRCm39)	A221V	probably benign	Het
Nuak2	A	T	1: 132,259,509 (GRCm39)	D429V	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or52h1	T	A	7: 103,829,448 (GRCm39)	S56C	probably damaging	Het
Or8b42	T	C	9: 38,341,760 (GRCm39)	Y61H	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh7	T	C	5: 57,879,508 (GRCm39)	V1021A	probably damaging	Het
Pclo	G	C	5: 14,729,087 (GRCm39)		probably benign	Het
Pds5a	A	C	5: 65,772,615 (GRCm39)	D1329E	probably damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pias3	A	G	3: 96,611,171 (GRCm39)	K431E	probably damaging	Het
Piwil1	T	C	5: 128,818,678 (GRCm39)	S158P	probably damaging	Het
Plxnc1	A	T	10: 94,635,239 (GRCm39)	I1329N	possibly damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pnpla1	T	A	17: 29,098,397 (GRCm39)		probably null	Het
Prdm10	T	C	9: 31,270,343 (GRCm39)	Y827H	probably damaging	Het
Prss3b	A	C	6: 41,009,370 (GRCm39)	Y155D	probably benign	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rgl3	A	G	9: 21,899,340 (GRCm39)		probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rpp40	T	C	13: 36,082,681 (GRCm39)	N254D	probably benign	Het
Scin	T	A	12: 40,174,699 (GRCm39)	H128L	probably damaging	Het
Sh3bp2	A	T	5: 34,714,311 (GRCm39)	M225L	probably benign	Het
Shisa9	C	A	16: 12,085,412 (GRCm39)	H324Q	possibly damaging	Het
Sipa1l1	A	G	12: 82,484,601 (GRCm39)	D1585G	probably damaging	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slc6a13	T	C	6: 121,310,301 (GRCm39)	L320P	probably damaging	Het
Spats2l	A	G	1: 57,982,380 (GRCm39)	T421A	probably benign	Het
Spryd3	A	T	15: 102,037,046 (GRCm39)	D207E	probably benign	Het
Srrt	T	C	5: 137,294,803 (GRCm39)	N392S	possibly damaging	Het
Stk36	G	T	1: 74,661,504 (GRCm39)	R510S	probably benign	Het
Sucnr1	A	G	3: 59,994,288 (GRCm39)	Y272C	probably damaging	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Tmem131	A	G	1: 36,893,986 (GRCm39)	I139T	probably damaging	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,655,750 (GRCm39)	I661T	probably benign	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Uap1	G	T	1: 169,989,032 (GRCm39)	P130Q	probably damaging	Het
Ube3c	T	C	5: 29,806,352 (GRCm39)		probably null	Het
Umad1	A	T	6: 8,401,157 (GRCm39)		probably null	Het
Usp34	T	C	11: 23,410,665 (GRCm39)	V2705A	possibly damaging	Het
Vps13a	T	C	19: 16,723,422 (GRCm39)	S259G	probably benign	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wdfy3	T	C	5: 102,042,803 (GRCm39)	T1983A	probably benign	Het
Wdr24	T	G	17: 26,044,753 (GRCm39)	F203V	possibly damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	Het
Zfp282	A	C	6: 47,854,637 (GRCm39)	Q11P	probably benign	Het
Zfp750	T	A	11: 121,403,021 (GRCm39)	T576S	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
R4678:Nup98	UTSW	7	101,834,038 (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
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'- CTGTAGAATGATCCAAACAGCAAG -3'
(R):5'- GTGCACTGAACATTGTCAAAGTCATAG -3'

Sequencing Primer
(F):5'- CAGCAAGAAAACCCTTTAAATCTTG -3'
(R):5'- ACCAGAACTTTGGACTGCTG -3'

Posted On

2016-06-06