Mutagenetix > Incidental Mutation

Incidental Mutation 'R7203:Nup88'

560806

Institutional Source

Beutler Lab

Gene Symbol

Nup88

Ensembl Gene

ENSMUSG00000040667

Gene Name

nucleoporin 88

Synonyms

Nup84, Prei2

MMRRC Submission

045281-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R7203 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70833884-70860799 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70836080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 532 (K532R)

Ref Sequence

ENSEMBL: ENSMUSP00000048101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035283] [ENSMUST00000076270] [ENSMUST00000081362] [ENSMUST00000100928] [ENSMUST00000108530] [ENSMUST00000108531] [ENSMUST00000108533] [ENSMUST00000177731] [ENSMUST00000178245]

AlphaFold

Q8CEC0

Predicted Effect

probably benign
Transcript: ENSMUST00000035283
AA Change: K532R

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000048101
Gene: ENSMUSG00000040667
AA Change: K532R

Domain	Start	End	E-Value	Type
Pfam:Nup88	13	752	1.1e-306	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076270

SMART Domains

Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	89	195	8.8e-47	PFAM
low complexity region	314	327	N/A	INTRINSIC
Pfam:Rabaptin	461	596	7.6e-39	PFAM
Pfam:Rab5-bind	612	807	5.7e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081362

SMART Domains

Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	89	198	2.4e-45	PFAM
low complexity region	274	287	N/A	INTRINSIC
Pfam:Rabaptin	421	556	7.1e-39	PFAM
Pfam:Rab5-bind	572	767	5.2e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100928

SMART Domains

Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	89	195	8.3e-47	PFAM
low complexity region	314	327	N/A	INTRINSIC
Pfam:Rabaptin	461	561	2.9e-27	PFAM
Pfam:Rab5-bind	577	772	5.3e-51	PFAM
low complexity region	803	817	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108530
AA Change: K532R

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104170
Gene: ENSMUSG00000040667
AA Change: K532R

Domain	Start	End	E-Value	Type
Pfam:Nup88	11	742	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108531
AA Change: K532R

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104171
Gene: ENSMUSG00000040667
AA Change: K532R

Domain	Start	End	E-Value	Type
Pfam:Nup88	11	747	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108533

SMART Domains

Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	9	495	2.8e-301	PFAM
Pfam:Rab5-bind	533	841	2e-142	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177731

SMART Domains

Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	5	111	6.2e-47	PFAM
low complexity region	230	243	N/A	INTRINSIC
Pfam:Rabaptin	377	512	5.3e-39	PFAM
Pfam:Rab5-bind	528	723	1.4e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178245

SMART Domains

Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	46	152	8.2e-47	PFAM
low complexity region	271	284	N/A	INTRINSIC
Pfam:Rabaptin	418	553	7e-39	PFAM
Pfam:Rab5-bind	569	764	5.2e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178253

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (108/108)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,930,317 (GRCm39)	V184A	probably benign	Het
Aars2	A	G	17: 45,827,497 (GRCm39)	Y513C	probably damaging	Het
Ackr2	G	A	9: 121,738,033 (GRCm39)	C136Y	probably damaging	Het
Aldh1l1	A	G	6: 90,547,782 (GRCm39)	K414R	probably benign	Het
Arl9	A	G	5: 77,155,118 (GRCm39)	Y83C	possibly damaging	Het
Atp10a	G	T	7: 58,436,221 (GRCm39)	R337L	probably benign	Het
Atp6v1g3	A	T	1: 138,215,538 (GRCm39)	Q66L	probably damaging	Het
Atp7b	A	T	8: 22,487,351 (GRCm39)	N1321K	probably damaging	Het
Axdnd1	A	T	1: 156,209,959 (GRCm39)	M437K	probably damaging	Het
Bap1	C	A	14: 30,976,126 (GRCm39)	P147Q	probably damaging	Het
Bicd1	C	T	6: 149,414,403 (GRCm39)	T372I	possibly damaging	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
Btrc	A	G	19: 45,501,967 (GRCm39)		probably null	Het
C130050O18Rik	A	C	5: 139,400,129 (GRCm39)	I61L	probably benign	Het
Cfap161	A	G	7: 83,425,258 (GRCm39)	S278P	probably damaging	Het
Cgnl1	T	C	9: 71,631,815 (GRCm39)	D512G	possibly damaging	Het
Chat	T	C	14: 32,141,014 (GRCm39)	D461G	probably damaging	Het
Chl1	T	A	6: 103,668,635 (GRCm39)	V456D	probably benign	Het
Cib1	T	C	7: 79,882,120 (GRCm39)	T20A	possibly damaging	Het
Cubn	T	G	2: 13,355,814 (GRCm39)	H1806P	probably benign	Het
Dapk1	T	A	13: 60,844,149 (GRCm39)	V56E	possibly damaging	Het
Dennd4a	A	G	9: 64,803,756 (GRCm39)	N1032D	probably benign	Het
Dlg5	T	A	14: 24,188,723 (GRCm39)	E1756V	probably damaging	Het
Dnah1	T	C	14: 30,996,339 (GRCm39)	T2666A	probably benign	Het
Dnah11	A	T	12: 118,009,257 (GRCm39)	I2135N	possibly damaging	Het
Dnah6	T	A	6: 73,150,528 (GRCm39)	E745V	probably benign	Het
Dock8	A	T	19: 25,158,927 (GRCm39)	N1695I	probably damaging	Het
Esf1	C	T	2: 140,006,139 (GRCm39)	R336Q	possibly damaging	Het
Fam161a	A	G	11: 22,971,664 (GRCm39)		probably null	Het
Fam89a	T	C	8: 125,478,418 (GRCm39)	E44G	possibly damaging	Het
Fndc3b	A	T	3: 27,510,634 (GRCm39)	D829E	probably benign	Het
Fxr1	C	T	3: 34,100,689 (GRCm39)	T125I	possibly damaging	Het
Gfer	T	C	17: 24,914,836 (GRCm39)	D69G	probably damaging	Het
Gpatch2l	T	A	12: 86,335,711 (GRCm39)	S471T	probably benign	Het
Grm7	T	G	6: 111,335,530 (GRCm39)	I647S	possibly damaging	Het
Gsn	A	G	2: 35,188,807 (GRCm39)	I447V	probably benign	Het
H2al2c	C	T	Y: 2,599,234 (GRCm39)	L46F	possibly damaging	Het
Hao2	A	C	3: 98,784,598 (GRCm39)		probably null	Het
Ifitm10	T	C	7: 141,882,305 (GRCm39)	E155G	probably benign	Het
Igkv8-16	C	A	6: 70,363,794 (GRCm39)	W76L	probably benign	Het
Igsf21	A	T	4: 139,834,648 (GRCm39)	F75I	possibly damaging	Het
Ints14	T	A	9: 64,871,701 (GRCm39)	M13K	probably damaging	Het
Ipmk	A	T	10: 71,199,298 (GRCm39)	D53V	possibly damaging	Het
Iqcn	A	T	8: 71,169,597 (GRCm39)	E1229V	probably benign	Het
Itga8	A	G	2: 12,234,906 (GRCm39)	F451L	possibly damaging	Het
Jup	A	G	11: 100,272,560 (GRCm39)	F284S	probably damaging	Het
Kctd5	T	C	17: 24,292,209 (GRCm39)	D65G	probably benign	Het
Klrc1	A	T	6: 129,654,184 (GRCm39)	S148T	probably benign	Het
Kmt5b	A	G	19: 3,864,147 (GRCm39)	K404E	probably damaging	Het
Krt9	A	C	11: 100,081,617 (GRCm39)	M304R	probably damaging	Het
Krtap5-1	A	T	7: 141,850,299 (GRCm39)	S143T	unknown	Het
Kyat3	A	G	3: 142,426,162 (GRCm39)	N68D	probably damaging	Het
Kynu	A	G	2: 43,571,365 (GRCm39)	D427G	probably damaging	Het
Leo1	A	G	9: 75,353,278 (GRCm39)		probably null	Het
Loxhd1	A	G	18: 77,501,892 (GRCm39)	D1737G	probably damaging	Het
Lpo	C	A	11: 87,700,077 (GRCm39)	L521F	possibly damaging	Het
Lrrk1	A	G	7: 65,920,573 (GRCm39)	S1477P	probably damaging	Het
Lrrtm1	C	A	6: 77,220,584 (GRCm39)	L14M	probably damaging	Het
Ly75	G	A	2: 60,154,196 (GRCm39)	R1084*	probably null	Het
Mcf2l	A	G	8: 13,060,456 (GRCm39)	D764G	probably benign	Het
Mmut	A	T	17: 41,249,564 (GRCm39)	M180L	probably benign	Het
Mrgprd	A	T	7: 144,876,086 (GRCm39)	D319V	probably benign	Het
Myom3	T	C	4: 135,522,490 (GRCm39)	L897P	possibly damaging	Het
Ncapd2	A	T	6: 125,161,291 (GRCm39)	M247K	possibly damaging	Het
Nlrp2	T	C	7: 5,320,533 (GRCm39)	D868G	probably damaging	Het
Npy6r	A	G	18: 44,408,999 (GRCm39)	N140S	probably damaging	Het
Nsmce4a	T	C	7: 130,141,602 (GRCm39)	K196E	probably benign	Het
Or6k4	T	A	1: 173,964,680 (GRCm39)	Y123*	probably null	Het
Or8d6	T	A	9: 39,853,805 (GRCm39)	V83E	probably benign	Het
Or8g29-ps1	A	T	9: 39,200,589 (GRCm39)	I199N	unknown	Het
Pbxip1	A	T	3: 89,354,735 (GRCm39)	D418V	possibly damaging	Het
Pde2a	C	A	7: 101,159,151 (GRCm39)	R761S	possibly damaging	Het
Phf10	A	T	17: 15,166,575 (GRCm39)	C432S	probably damaging	Het
Pitpnm2	T	C	5: 124,259,522 (GRCm39)	D1271G	probably damaging	Het
Plin1	A	T	7: 79,373,192 (GRCm39)	L259Q	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pou6f2	T	A	13: 18,414,379 (GRCm39)	Q132L	unknown	Het
Ppa2	A	T	3: 133,036,199 (GRCm39)	N118Y	possibly damaging	Het
Prickle2	T	C	6: 92,387,959 (GRCm39)	E537G	possibly damaging	Het
Prl3d1	A	G	13: 27,282,684 (GRCm39)	I141V	possibly damaging	Het
Prl8a1	A	T	13: 27,758,172 (GRCm39)	V179D	probably damaging	Het
Prr14l	A	G	5: 32,984,489 (GRCm39)	F1669L	probably benign	Het
Prrg4	T	A	2: 104,669,787 (GRCm39)	E110V	possibly damaging	Het
Rfx5	C	A	3: 94,866,187 (GRCm39)	H495Q	unknown	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Rpe65	A	G	3: 159,328,491 (GRCm39)	Y433C	probably damaging	Het
Rpl35rt	A	T	1: 156,193,657 (GRCm39)	I4F	probably damaging	Het
Rtn4rl1	C	T	11: 75,156,576 (GRCm39)	S336F	possibly damaging	Het
Scn2a	A	G	2: 65,578,663 (GRCm39)	D1446G	probably benign	Het
Sdk1	C	A	5: 142,031,931 (GRCm39)	T1002K	probably benign	Het
Slc9b2	T	C	3: 135,036,422 (GRCm39)	S409P	probably benign	Het
Sowahc	A	G	10: 59,058,100 (GRCm39)	T79A	probably benign	Het
Spata31h1	G	A	10: 82,129,248 (GRCm39)	T1254I	probably benign	Het
Stk35	T	A	2: 129,643,513 (GRCm39)	C166S	probably benign	Het
Tarbp2	A	G	15: 102,430,922 (GRCm39)	H225R	probably benign	Het
Tdrd12	T	A	7: 35,188,648 (GRCm39)	K530*	probably null	Het
Terf2ip	A	G	8: 112,744,618 (GRCm39)	I312V	probably benign	Het
Tgfb1	T	C	7: 25,391,964 (GRCm39)		probably null	Het
Thbs2	T	C	17: 14,891,720 (GRCm39)	D939G	probably damaging	Het
Ube4b	A	T	4: 149,483,067 (GRCm39)	I67K	probably benign	Het
Ubn1	G	T	16: 4,895,080 (GRCm39)	V709F	possibly damaging	Het
Ugt2b5	T	C	5: 87,276,258 (GRCm39)	K339E	possibly damaging	Het
Vax2	T	C	6: 83,714,882 (GRCm39)	S266P	probably damaging	Het
Vmn2r108	A	G	17: 20,683,038 (GRCm39)	I722T	probably benign	Het
Vmn2r95	A	G	17: 18,661,577 (GRCm39)	K441R	probably benign	Het
Wapl	C	A	14: 34,458,648 (GRCm39)	D903E	probably benign	Het
Wee1	T	A	7: 109,734,001 (GRCm39)	V442D	probably benign	Het
Zan	T	C	5: 137,432,358 (GRCm39)	N2313S	unknown	Het

Other mutations in Nup88

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02081:Nup88	APN	11	70,845,480 (GRCm39)	splice site	probably benign
IGL02219:Nup88	APN	11	70,860,518 (GRCm39)	missense	probably benign	0.45
IGL02433:Nup88	APN	11	70,860,714 (GRCm39)	missense	probably benign	0.13
IGL02666:Nup88	APN	11	70,834,695 (GRCm39)	intron	probably benign
IGL02669:Nup88	APN	11	70,847,110 (GRCm39)	missense	probably damaging	0.99
IGL02951:Nup88	APN	11	70,835,698 (GRCm39)	missense	possibly damaging	0.94
unholy	UTSW	11	70,847,018 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Nup88	UTSW	11	70,835,547 (GRCm39)	missense	probably benign	0.00
R0445:Nup88	UTSW	11	70,838,555 (GRCm39)	missense	probably benign	0.44
R0737:Nup88	UTSW	11	70,860,776 (GRCm39)	start codon destroyed	probably null	0.90
R0920:Nup88	UTSW	11	70,847,146 (GRCm39)	missense	possibly damaging	0.80
R1337:Nup88	UTSW	11	70,835,716 (GRCm39)	missense	probably damaging	1.00
R2208:Nup88	UTSW	11	70,856,545 (GRCm39)	missense	probably damaging	1.00
R3735:Nup88	UTSW	11	70,847,018 (GRCm39)	missense	probably damaging	1.00
R4577:Nup88	UTSW	11	70,860,543 (GRCm39)	missense	probably damaging	0.96
R4600:Nup88	UTSW	11	70,860,522 (GRCm39)	nonsense	probably null
R4663:Nup88	UTSW	11	70,856,672 (GRCm39)	splice site	probably null
R4812:Nup88	UTSW	11	70,856,552 (GRCm39)	missense	probably damaging	1.00
R4824:Nup88	UTSW	11	70,852,450 (GRCm39)	missense	probably benign	0.10
R5333:Nup88	UTSW	11	70,835,842 (GRCm39)	intron	probably benign
R5338:Nup88	UTSW	11	70,835,734 (GRCm39)	missense	probably damaging	0.98
R5443:Nup88	UTSW	11	70,849,256 (GRCm39)	nonsense	probably null
R5605:Nup88	UTSW	11	70,834,896 (GRCm39)	intron	probably benign
R5869:Nup88	UTSW	11	70,860,497 (GRCm39)	missense	probably benign
R6287:Nup88	UTSW	11	70,856,581 (GRCm39)	missense	probably benign	0.39
R6364:Nup88	UTSW	11	70,838,612 (GRCm39)	missense	probably benign
R6409:Nup88	UTSW	11	70,835,798 (GRCm39)	missense	probably null	0.71
R6555:Nup88	UTSW	11	70,835,006 (GRCm39)	missense	possibly damaging	0.62
R7606:Nup88	UTSW	11	70,852,441 (GRCm39)	missense	possibly damaging	0.89
R7620:Nup88	UTSW	11	70,860,605 (GRCm39)	missense	probably benign	0.00
R7681:Nup88	UTSW	11	70,860,711 (GRCm39)	missense	probably benign	0.05
R8283:Nup88	UTSW	11	70,849,166 (GRCm39)	missense	probably benign
R8379:Nup88	UTSW	11	70,860,607 (GRCm39)	missense	possibly damaging	0.72
R8684:Nup88	UTSW	11	70,860,687 (GRCm39)	missense	probably benign
R8806:Nup88	UTSW	11	70,834,941 (GRCm39)	missense	probably benign	0.01
R9368:Nup88	UTSW	11	70,858,756 (GRCm39)	missense	probably damaging	0.99
R9748:Nup88	UTSW	11	70,860,497 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGCACCACAGTAAGGACAG -3'
(R):5'- TTCCCCAAGATGACCTTTCAGG -3'

Sequencing Primer
(F):5'- CTGCACCACAGTAAGGACAGAAAAAG -3'
(R):5'- TTTCAGGCCAGAACACACATTCTTG -3'

Posted On

2019-06-26