Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02212:Nup93'

285570

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup93

Ensembl Gene

ENSMUSG00000032939

Gene Name

nucleoporin 93

Synonyms

2410008G02Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.914) question?

Stock #

IGL02212

Quality Score

Status

Chromosome

Chromosomal Location

94214564-94317227 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 94311662 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079961] [ENSMUST00000109547] [ENSMUST00000211822] [ENSMUST00000212824]

AlphaFold

Q8BJ71

Predicted Effect

probably null
Transcript: ENSMUST00000079961

SMART Domains

Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
low complexity region	42	52	N/A	INTRINSIC
Pfam:Nic96	214	804	6.9e-198	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109547

SMART Domains

Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
low complexity region	42	52	N/A	INTRINSIC
Pfam:Nic96	202	804	8.2e-202	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000211822

Predicted Effect

probably null
Transcript: ENSMUST00000212824

Coding Region Coverage

Validation Efficiency

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 are the main components of the nuclear pore complex in eukaryotic cells. This gene encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of caspase cysteine proteases that play a central role in programmed cell death by apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,248,889	D1079V	probably damaging	Het
Adam18	T	C	8: 24,637,179	H467R	probably benign	Het
Ambra1	T	G	2: 91,917,361	D1056E	probably damaging	Het
Aoah	A	C	13: 21,002,901	N456T	probably benign	Het
Batf2	T	A	19: 6,171,961	F267Y	probably damaging	Het
Bbs7	C	T	3: 36,594,409	V397I	probably benign	Het
Bbs9	T	A	9: 22,812,512	D824E	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Brip1	A	T	11: 86,139,015	V601E	possibly damaging	Het
Bub1	A	G	2: 127,805,351	F773L	probably damaging	Het
Cadps	A	T	14: 12,522,345	D606E	possibly damaging	Het
Cenps	T	G	4: 149,128,846	D54A	probably damaging	Het
Cep170	T	A	1: 176,735,936	N1504I	probably damaging	Het
Cttnbp2	A	G	6: 18,382,749	V1340A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,210,171	S667T	probably benign	Het
Dgkb	A	G	12: 38,139,414	Y272C	probably damaging	Het
Dlx3	A	G	11: 95,120,641	D107G	probably benign	Het
Drd3	A	T	16: 43,762,312	N56I	probably benign	Het
Elavl4	T	A	4: 110,206,412	I331F	probably damaging	Het
Fam167a	T	G	14: 63,462,629	S213A	probably damaging	Het
Fasn	A	T	11: 120,807,903	I2489N	probably damaging	Het
Fbxo43	T	C	15: 36,151,811	K587E	probably damaging	Het
Fscn2	A	G	11: 120,362,055	D116G	probably damaging	Het
Galm	T	C	17: 80,150,117	V194A	probably benign	Het
Gm14851	C	T	8: 21,095,260		probably benign	Het
Gpr180	T	A	14: 118,160,176	F361I	probably damaging	Het
Gpx2	A	T	12: 76,792,908	C105*	probably null	Het
Gsdmc2	A	T	15: 63,828,062		probably benign	Het
Hes2	T	G	4: 152,160,525	S150R	probably damaging	Het
Ighv1-56	C	T	12: 115,242,797		probably benign	Het
Inhbb	A	T	1: 119,417,983	V192D	probably benign	Het
Itgal	A	T	7: 127,300,980	M137L	probably benign	Het
Jak2	A	G	19: 29,287,982	N470D	probably benign	Het
Jph1	T	C	1: 17,091,757	E227G	probably damaging	Het
Kcnj6	A	T	16: 94,832,487	I237N	probably damaging	Het
Kctd8	G	T	5: 69,340,688	P205Q	probably benign	Het
Klhdc1	A	T	12: 69,250,766	N37I	probably damaging	Het
Lrp2	T	A	2: 69,451,264	H3921L	probably benign	Het
Lrp8os2	T	C	4: 107,807,048		probably benign	Het
Man2a2	A	C	7: 80,362,308	D700E	probably benign	Het
Mast1	A	T	8: 84,921,397	L485Q	probably damaging	Het
Mmp3	A	G	9: 7,450,165	D299G	probably damaging	Het
Mptx2	T	A	1: 173,274,681	D147V	possibly damaging	Het
Mrpl9	T	A	3: 94,443,817		probably null	Het
Mup21	T	G	4: 62,148,592	E137A	probably damaging	Het
Mutyh	T	A	4: 116,815,606	V52D	probably damaging	Het
Nalcn	T	A	14: 123,515,330	S340C	probably damaging	Het
Neb	A	G	2: 52,308,311	Y474H	probably damaging	Het
Nol8	A	G	13: 49,662,150	E560G	possibly damaging	Het
Ntn4	A	G	10: 93,644,849	D145G	possibly damaging	Het
Olfr133	C	A	17: 38,148,855	T89K	probably benign	Het
Olfr1384	A	T	11: 49,513,910	I91F	probably damaging	Het
Olfr346	A	G	2: 36,688,182	Y60C	probably damaging	Het
Olfr691	C	T	7: 105,337,143	C191Y	probably damaging	Het
Pcdhb8	T	A	18: 37,356,412	V40E	possibly damaging	Het
Peg3	C	T	7: 6,711,416	R269H	probably benign	Het
Piwil1	T	A	5: 128,750,270	F648I	possibly damaging	Het
Psd4	A	T	2: 24,405,314	K827*	probably null	Het
Retsat	T	A	6: 72,601,710	L135*	probably null	Het
Rtp3	A	G	9: 110,987,321		probably benign	Het
Samd14	A	G	11: 95,023,350	Y305C	probably damaging	Het
Satb1	T	A	17: 51,775,291	Q445L	possibly damaging	Het
Shbg	A	G	11: 69,617,209	L110P	probably damaging	Het
Slc17a6	T	A	7: 51,667,470	I413N	possibly damaging	Het
Slu7	A	T	11: 43,440,642	Q201L	probably benign	Het
Spg11	T	C	2: 122,108,157	T439A	probably benign	Het
Sstr5	A	T	17: 25,491,673	L194Q	possibly damaging	Het
Tjp2	A	T	19: 24,138,786	L13Q	probably damaging	Het
Tnk2	G	A	16: 32,680,142	V758I	probably damaging	Het
Ttll8	C	A	15: 88,917,247	V413L	probably benign	Het
Wiz	T	C	17: 32,368,135	D67G	probably damaging	Het

Other mutations in Nup93

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Nup93	APN	8	94309023	critical splice donor site	probably null
IGL01652:Nup93	APN	8	94296559	missense	possibly damaging	0.93
IGL02003:Nup93	APN	8	94302109	nonsense	probably null
IGL02169:Nup93	APN	8	94302129	missense	probably damaging	1.00
IGL02551:Nup93	APN	8	94227833	nonsense	probably null
IGL02568:Nup93	APN	8	94309635	missense	probably damaging	1.00
IGL03094:Nup93	APN	8	94296502	missense	probably benign
IGL03248:Nup93	APN	8	94306088	missense	probably damaging	0.98
IGL03273:Nup93	APN	8	94306277	missense	probably benign	0.01
IGL03401:Nup93	APN	8	94309711	splice site	probably null
PIT4585001:Nup93	UTSW	8	94243727	missense	probably benign	0.25
R0409:Nup93	UTSW	8	94303665	missense	probably damaging	1.00
R0748:Nup93	UTSW	8	94307943	missense	probably damaging	1.00
R0891:Nup93	UTSW	8	94281263	splice site	probably benign
R1667:Nup93	UTSW	8	94292687	missense	possibly damaging	0.71
R1696:Nup93	UTSW	8	94296555	missense	probably benign	0.29
R1862:Nup93	UTSW	8	94306102	missense	probably damaging	1.00
R2069:Nup93	UTSW	8	94243739	missense	probably damaging	1.00
R2143:Nup93	UTSW	8	94296480	nonsense	probably null
R2187:Nup93	UTSW	8	94300850	missense	probably damaging	1.00
R2228:Nup93	UTSW	8	94304191	missense	probably benign	0.27
R2229:Nup93	UTSW	8	94304191	missense	probably benign	0.27
R2254:Nup93	UTSW	8	94227857	critical splice donor site	probably null
R2884:Nup93	UTSW	8	94303638	missense	probably damaging	1.00
R4521:Nup93	UTSW	8	94314636	missense	probably damaging	1.00
R4563:Nup93	UTSW	8	94307892	missense	probably damaging	1.00
R4900:Nup93	UTSW	8	94286603	missense	probably benign	0.25
R5570:Nup93	UTSW	8	94314670	missense	probably damaging	1.00
R6226:Nup93	UTSW	8	94286537	missense	probably damaging	1.00
R6489:Nup93	UTSW	8	94302088	missense	probably benign	0.10
R6658:Nup93	UTSW	8	94304179	missense	probably benign	0.02
R6817:Nup93	UTSW	8	94314682	critical splice donor site	probably null
R6895:Nup93	UTSW	8	94243686	missense	probably damaging	1.00
R6955:Nup93	UTSW	8	94309673	missense	probably damaging	0.96
R7476:Nup93	UTSW	8	94303632	missense	probably damaging	1.00
R7643:Nup93	UTSW	8	94286619	critical splice donor site	probably null
R7994:Nup93	UTSW	8	94306302	missense	probably benign	0.15
R8461:Nup93	UTSW	8	94281335	critical splice donor site	probably null
R9177:Nup93	UTSW	8	94227743	missense	probably benign	0.25
R9264:Nup93	UTSW	8	94292720	missense	probably benign	0.01
R9532:Nup93	UTSW	8	94314621	missense	probably damaging	1.00
R9567:Nup93	UTSW	8	94308976	missense	possibly damaging	0.94
R9629:Nup93	UTSW	8	94306639	missense	probably damaging	0.99
R9721:Nup93	UTSW	8	94303685	missense	probably damaging	1.00

Posted On

2015-04-16