Mutagenetix > Incidental Mutations

Incidental Mutation 'R5869:Nup88'

454342

Institutional Source

Beutler Lab

Gene Symbol

Nup88

Ensembl Gene

ENSMUSG00000040667

Gene Name

nucleoporin 88

Synonyms

Nup84, Prei2

MMRRC Submission

044077-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R5869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70943058-70969973 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70969671 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 94 (E94G)

Ref Sequence

ENSEMBL: ENSMUSP00000104171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018593] [ENSMUST00000035283] [ENSMUST00000108529] [ENSMUST00000108530] [ENSMUST00000108531] [ENSMUST00000154430] [ENSMUST00000167509] [ENSMUST00000169965] [ENSMUST00000171254] [ENSMUST00000178822]

Predicted Effect

probably benign
Transcript: ENSMUST00000018593

SMART Domains

Protein: ENSMUSP00000018593
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	8	47	1.7e-21	PFAM
Pfam:RPA_interact_M	59	127	1.1e-14	PFAM
Pfam:RPA_interact_C	136	217	2.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000035283
AA Change: E94G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000048101
Gene: ENSMUSG00000040667
AA Change: E94G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108529

SMART Domains

Protein: ENSMUSP00000104169
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	7.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108530
AA Change: E94G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000104170
Gene: ENSMUSG00000040667
AA Change: E94G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108531
AA Change: E94G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000104171
Gene: ENSMUSG00000040667
AA Change: E94G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151608

Predicted Effect

probably benign
Transcript: ENSMUST00000154430

SMART Domains

Protein: ENSMUSP00000137113
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	38	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167509

SMART Domains

Protein: ENSMUSP00000127315
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	2.7e-23	PFAM
Pfam:RPA_interact_M	58	128	5.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169965

SMART Domains

Protein: ENSMUSP00000128903
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	1e-23	PFAM
Pfam:RPA_interact_M	58	106	6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171254

SMART Domains

Protein: ENSMUSP00000133243
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	1.1e-23	PFAM
Pfam:RPA_interact_M	58	107	3.1e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000178253
AA Change: E70G

Predicted Effect

probably benign
Transcript: ENSMUST00000178822

SMART Domains

Protein: ENSMUSP00000136592
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	2.7e-23	PFAM
Pfam:RPA_interact_M	58	128	5.3e-16	PFAM

Meta Mutation Damage Score

0.0723

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

93% (68/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,616		probably benign	Het
Arsk	T	C	13: 76,091,784	E100G	probably benign	Het
Ascc3	C	T	10: 50,842,183	R1991*	probably null	Het
Aspscr1	T	C	11: 120,688,920	I31T	possibly damaging	Het
Asz1	T	C	6: 18,074,940		probably benign	Het
Calm5	T	A	13: 3,854,321		probably benign	Het
Car5a	G	A	8: 121,916,380	T295I	probably benign	Het
Ccdc174	T	A	6: 91,885,418		probably benign	Het
Celsr2	G	A	3: 108,413,909	A529V	probably damaging	Het
Cep192	A	G	18: 67,815,864	D252G	probably benign	Het
Clcnka	A	G	4: 141,394,965	F217L	probably benign	Het
Cnot3	A	T	7: 3,644,930		probably benign	Het
Coro1c	A	G	5: 113,850,846		probably benign	Het
Cstf3	A	G	2: 104,659,240		probably null	Het
Dcdc2a	C	T	13: 25,107,730	P233S	probably benign	Het
Ddx55	A	G	5: 124,568,682	T581A	probably benign	Het
Exo1	T	C	1: 175,901,283	S638P	possibly damaging	Het
Fam135a	T	C	1: 24,029,430	E616G	possibly damaging	Het
Fignl2	T	C	15: 101,053,280	S374G	unknown	Het
Gm4799	A	T	10: 82,954,449		noncoding transcript	Het
Hectd4	T	C	5: 121,343,225		probably null	Het
Ighv1-76	T	C	12: 115,848,038	E65G	probably damaging	Het
Igsf9b	C	A	9: 27,323,235	H465Q	probably benign	Het
Itga9	A	G	9: 118,663,889	D284G	probably damaging	Het
Itpr1	T	C	6: 108,473,529	S1940P	probably benign	Het
Kcnb1	A	G	2: 167,188,071	S185P	probably benign	Het
Kif20a	G	A	18: 34,632,415	A822T	probably benign	Het
Krt1	A	T	15: 101,850,131	F199L	probably damaging	Het
Lpin2	A	G	17: 71,232,276		probably benign	Het
Lrp1b	A	C	2: 41,004,603	D2204E	probably damaging	Het
Mier3	T	A	13: 111,714,850	N427K	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446		probably benign	Het
Mroh3	T	A	1: 136,186,123	M643L	probably benign	Het
Myh11	A	G	16: 14,230,800	S548P	probably damaging	Het
Nat8f6	A	C	6: 85,808,523	L215V	possibly damaging	Het
Nlrp3	G	A	11: 59,548,134	R179Q	probably damaging	Het
Pias1	A	T	9: 62,912,766	D306E	probably benign	Het
Pick1	A	G	15: 79,248,895	D385G	probably benign	Het
Pitx3	A	T	19: 46,137,296		probably benign	Het
Plpp3	T	A	4: 105,194,962		probably null	Het
Prlhr	C	A	19: 60,467,621	R169L	probably damaging	Het
Ptprf	A	C	4: 118,210,382	M1872R	probably damaging	Het
Ptprh	T	C	7: 4,601,940	D35G	probably benign	Het
Rnf130	A	G	11: 50,085,815		probably null	Het
Rnf17	A	C	14: 56,505,988	E1337A	possibly damaging	Het
Sdk2	A	G	11: 113,851,882	Y734H	probably damaging	Het
Slc25a10	C	T	11: 120,498,117	T269I	probably damaging	Het
Slc4a11	A	C	2: 130,684,459	V855G	probably benign	Het
Slc5a5	C	A	8: 70,892,330	R111L	probably damaging	Het
Spg20	A	T	3: 55,135,510	M616L	probably benign	Het
Tmem229a	T	C	6: 24,954,687	D356G	probably damaging	Het
Tmem30c	A	G	16: 57,266,562	S293P	probably damaging	Het
Tnfrsf14	C	A	4: 154,926,598		probably null	Het
Tnfrsf19	C	T	14: 60,971,178	R298H	possibly damaging	Het
Ttc21a	A	G	9: 119,958,792	K809E	probably benign	Het
Ttn	G	A	2: 76,750,209	P23447S	probably damaging	Het
Uap1	T	A	1: 170,151,138		probably null	Het
Wdr82	A	G	9: 106,185,304	Q252R	probably benign	Het
Zfp523	T	C	17: 28,194,993	I34T	probably benign	Het
Zfp808	T	A	13: 62,171,255	H99Q	probably damaging	Het

Other mutations in Nup88

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02081:Nup88	APN	11	70954654	splice site	probably benign
IGL02219:Nup88	APN	11	70969692	missense	probably benign	0.45
IGL02433:Nup88	APN	11	70969888	missense	probably benign	0.13
IGL02666:Nup88	APN	11	70943869	intron	probably benign
IGL02669:Nup88	APN	11	70956284	missense	probably damaging	0.99
IGL02951:Nup88	APN	11	70944872	missense	possibly damaging	0.94
unholy	UTSW	11	70956192	missense	probably damaging	1.00
PIT4515001:Nup88	UTSW	11	70944721	missense	probably benign	0.00
R0445:Nup88	UTSW	11	70947729	missense	probably benign	0.44
R0737:Nup88	UTSW	11	70969950	start codon destroyed	probably null	0.90
R0920:Nup88	UTSW	11	70956320	missense	possibly damaging	0.80
R1337:Nup88	UTSW	11	70944890	missense	probably damaging	1.00
R2208:Nup88	UTSW	11	70965719	missense	probably damaging	1.00
R3735:Nup88	UTSW	11	70956192	missense	probably damaging	1.00
R4577:Nup88	UTSW	11	70969717	missense	probably damaging	0.96
R4600:Nup88	UTSW	11	70969696	nonsense	probably null
R4663:Nup88	UTSW	11	70965846	splice site	probably null
R4812:Nup88	UTSW	11	70965726	missense	probably damaging	1.00
R4824:Nup88	UTSW	11	70961624	missense	probably benign	0.10
R5333:Nup88	UTSW	11	70945016	intron	probably benign
R5338:Nup88	UTSW	11	70944908	missense	probably damaging	0.98
R5443:Nup88	UTSW	11	70958430	nonsense	probably null
R5605:Nup88	UTSW	11	70944070	intron	probably benign
R6287:Nup88	UTSW	11	70965755	missense	probably benign	0.39
R6364:Nup88	UTSW	11	70947786	missense	probably benign
R6409:Nup88	UTSW	11	70944972	missense	probably null	0.71
R6555:Nup88	UTSW	11	70944180	missense	possibly damaging	0.62
R7203:Nup88	UTSW	11	70945254	missense	probably benign	0.20
R7606:Nup88	UTSW	11	70961615	missense	possibly damaging	0.89
R7620:Nup88	UTSW	11	70969779	missense	probably benign	0.00
R7681:Nup88	UTSW	11	70969885	missense	probably benign	0.05
R7956:Nup88	UTSW	11	70943874	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTTGTGCATGCTCTAGG -3'
(R):5'- GGCGTAAGAAACCAGAGTCC -3'

Sequencing Primer
(F):5'- TCTCAACACTCAGAGACTGGGG -3'
(R):5'- GTAAGAAACCAGAGTCCAGCCG -3'

Posted On

2017-02-10