Mutagenetix > Incidental Mutation

Incidental Mutation 'R2228:Nup93'

239859

Institutional Source

Beutler Lab

Gene Symbol

Nup93

Ensembl Gene

ENSMUSG00000032939

Gene Name

nucleoporin 93

Synonyms

2410008G02Rik

MMRRC Submission

040229-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R2228 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94214564-94317227 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94304191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 305 (T305I)

Ref Sequence

ENSEMBL: ENSMUSP00000148458 (fasta)

Gene Model

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

AlphaFold

Q8BJ71

Predicted Effect

probably benign
Transcript: ENSMUST00000079961
AA Change: T428I

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
AA Change: T428I

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 benign
Transcript: ENSMUST00000109547
AA Change: T428I

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
AA Change: T428I

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 benign
Transcript: ENSMUST00000211822
AA Change: T305I

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000212824
AA Change: T428I

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212984

Meta Mutation Damage Score

0.0984

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,729,591	T242A	probably benign	Het
Adam24	A	T	8: 40,680,365	I291L	probably benign	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Adcy8	C	A	15: 64,822,207	R407L	possibly damaging	Het
Aldh3b2	C	T	19: 3,981,133	P461S	probably benign	Het
Araf	T	C	X: 20,851,673	F144L	probably benign	Het
Atp11b	G	T	3: 35,806,942	D193Y	probably damaging	Het
Atp6v1b2	C	A	8: 69,102,759		probably null	Het
Bclaf1	T	A	10: 20,339,878		probably benign	Het
Cadps	A	G	14: 12,465,935	Y987H	probably benign	Het
Capn6	T	G	X: 143,804,789	T498P	possibly damaging	Het
Ccdc153	T	A	9: 44,243,017	L47Q	probably damaging	Het
Ccdc180	G	T	4: 45,948,856		probably null	Het
Cep162	G	T	9: 87,244,331	T176K	probably benign	Het
Cpsf2	A	G	12: 101,989,829	D297G	probably benign	Het
Entpd8	T	C	2: 25,085,016	M453T	probably damaging	Het
Eprs	T	A	1: 185,367,537	L18Q	probably damaging	Het
Fem1b	G	T	9: 62,796,738	C413*	probably null	Het
Flrt1	T	A	19: 7,095,358	D608V	probably damaging	Het
Fstl5	C	A	3: 76,482,352	N285K	probably damaging	Het
Golga1	T	C	2: 39,023,171	D543G	probably benign	Het
H2afy	C	T	13: 56,084,262	G235S	probably damaging	Het
Hivep2	A	G	10: 14,128,363	H235R	probably damaging	Het
Htr2c	G	C	X: 147,194,190	W325C	probably damaging	Het
Htr2c	G	T	X: 147,194,192	C326F	probably damaging	Het
Ifit1bl2	G	T	19: 34,619,230	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,333,496	S920P	probably damaging	Het
Mcm8	T	A	2: 132,820,121	I125K	possibly damaging	Het
Micall1	C	T	15: 79,129,836	R644W	probably damaging	Het
Myo16	G	A	8: 10,594,905	D1746N	possibly damaging	Het
Myo9a	A	G	9: 59,894,180	E1887G	probably benign	Het
Nbn	A	G	4: 15,970,904	T296A	probably benign	Het
Nckap1l	T	C	15: 103,455,934		probably null	Het
Neb	T	C	2: 52,232,995	R3734G	probably benign	Het
Olfr1350	A	T	7: 6,570,803	M271L	probably benign	Het
P2ry4	A	G	X: 100,593,947	L115P	probably damaging	Het
Pmepa1	G	A	2: 173,228,133	R210W	probably damaging	Het
Ppp1r26	T	C	2: 28,453,786	F1143L	possibly damaging	Het
Ppp1r3c	C	A	19: 36,733,698	R224L	probably benign	Het
Ptafr	T	G	4: 132,579,380	I27R	possibly damaging	Het
Pwwp2b	T	C	7: 139,255,188	C182R	probably damaging	Het
Reln	A	G	5: 21,987,078	F1455L	possibly damaging	Het
Rufy1	C	T	11: 50,397,784		probably null	Het
Samd9l	T	C	6: 3,376,910	H117R	probably benign	Het
Sfxn4	C	T	19: 60,851,020	G200E	probably damaging	Het
Sipa1l3	T	A	7: 29,377,939	K803*	probably null	Het
Smim23	C	A	11: 32,821,870	Q65H	probably damaging	Het
Spata18	A	T	5: 73,666,901	I156L	possibly damaging	Het
Sppl2b	G	A	10: 80,865,617	V389M	probably damaging	Het
Srbd1	T	C	17: 85,985,223	I973V	probably damaging	Het
Ssx2ip	C	T	3: 146,417,776	P10L	probably damaging	Het
Taf2	A	C	15: 55,064,646	D120E	possibly damaging	Het
Tanc1	T	C	2: 59,724,724	L42S	probably benign	Het
Tex15	C	A	8: 33,571,237	H232N	probably benign	Het
Tg	A	T	15: 66,674,011	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,644,776		probably null	Het
Tro	A	T	X: 150,655,481	M60K	probably benign	Het
Ttc38	G	A	15: 85,844,503	V219I	probably benign	Het
U2af2	T	C	7: 5,075,673	I417T	probably damaging	Het
Ube2r2	C	T	4: 41,174,044	H61Y	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn1r113	C	T	7: 20,787,907	S208F	probably damaging	Het
Wdr35	A	G	12: 8,974,955	K16E	possibly damaging	Het
Wwp1	A	T	4: 19,641,745	Y437N	probably damaging	Het
Zdhhc4	A	C	5: 143,320,407	W189G	probably damaging	Het
Zfp512	A	T	5: 31,465,575	K73N	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTTTGCTTTGCTAGGGACG -3'
(R):5'- ACAGCTTTCTATTTCCTTATGGTGG -3'

Sequencing Primer
(F):5'- CGGAATTTAGGGCATCAGTCATG -3'
(R):5'- TCTCTGGAATGTCAGGCAAGTAC -3'

Posted On

2014-10-15