Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03248:Nup93'

414468

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 #

IGL03248

Quality Score

Status

Chromosome

Chromosomal Location

94214564-94317227 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94306088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 411 (L411P)

Ref Sequence

ENSEMBL: ENSMUSP00000148458 (fasta)

Gene Model

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

AlphaFold

Q8BJ71

Predicted Effect

probably damaging
Transcript: ENSMUST00000079961
AA Change: L534P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
AA Change: L534P

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 damaging
Transcript: ENSMUST00000109547
AA Change: L534P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
AA Change: L534P

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 damaging
Transcript: ENSMUST00000211822
AA Change: L411P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212824
AA Change: L534P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212984

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,368,225	F116S	probably damaging	Het
Accsl	A	G	2: 93,862,784		probably benign	Het
Adgrl2	T	A	3: 148,817,400	E165V	probably damaging	Het
Alb	T	C	5: 90,461,714		probably benign	Het
Ank2	C	A	3: 126,955,870	E503D	probably damaging	Het
Arhgef10	T	C	8: 14,928,847	V38A	probably benign	Het
Astn2	A	G	4: 65,746,293		probably benign	Het
Bahcc1	G	A	11: 120,268,409	R154H	probably damaging	Het
Cep120	A	G	18: 53,735,772	Y112H	probably benign	Het
Chrna5	C	T	9: 55,004,639	T241I	probably damaging	Het
Clasp1	A	G	1: 118,602,476	S1215G	probably benign	Het
Ddx21	C	T	10: 62,591,990	R378Q	possibly damaging	Het
Dnah1	A	T	14: 31,269,889	L3052Q	probably damaging	Het
Dyrk4	G	T	6: 126,884,053	T445K	probably benign	Het
Ercc4	T	C	16: 13,127,593	W291R	probably damaging	Het
Fam208a	C	T	14: 27,476,692	T1327I	probably damaging	Het
Flvcr1	A	G	1: 191,025,742	W76R	probably damaging	Het
Frmd3	A	G	4: 74,128,218	I132V	possibly damaging	Het
Gnb4	T	C	3: 32,585,175	D323G	probably damaging	Het
Hnrnpc	G	A	14: 52,075,439		probably benign	Het
Hnrnpl	T	C	7: 28,814,080	S202P	probably benign	Het
Hydin	T	A	8: 110,595,289	F4524L	probably damaging	Het
Iars2	A	G	1: 185,291,432		probably benign	Het
Ino80d	A	G	1: 63,068,182		probably null	Het
Itga8	C	A	2: 12,132,516	A13S	probably benign	Het
Man2a1	T	C	17: 64,713,611	F794S	probably damaging	Het
Mpp7	T	C	18: 7,403,269	D347G	probably benign	Het
Olfr564	C	T	7: 102,803,639	Q54*	probably null	Het
Plin1	C	T	7: 79,722,634	V86I	probably damaging	Het
Rgs6	A	G	12: 83,052,550		probably benign	Het
Shroom3	C	T	5: 92,952,540	P1473S	probably benign	Het
Slc12a8	A	G	16: 33,551,027	I178V	probably damaging	Het
Slc20a2	T	A	8: 22,558,983	S219T	probably benign	Het
Tfeb	T	C	17: 47,786,995	M36T	probably benign	Het
Trim33	G	A	3: 103,310,973		probably benign	Het
Trnau1ap	A	G	4: 132,321,803	Y30H	probably damaging	Het
Tulp1	T	C	17: 28,359,324	K276E	possibly damaging	Het
Uvssa	T	A	5: 33,391,816	I340N	probably damaging	Het
Vmn1r32	T	A	6: 66,552,913	N293I	possibly damaging	Het
Xpc	T	C	6: 91,504,583	N250S	probably damaging	Het
Ybey	T	C	10: 76,468,327	I14V	probably benign	Het
Zfhx3	T	C	8: 108,946,550	Y1411H	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
IGL02212:Nup93	APN	8	94311662	critical splice donor site	probably null
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
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

2016-08-02