Mutagenetix > Incidental Mutation

Incidental Mutation 'R9567:Nup93'

721690

Institutional Source

Beutler Lab

Gene Symbol

Nup93

Ensembl Gene

ENSMUSG00000032939

Gene Name

nucleoporin 93

Synonyms

2410008G02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R9567 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94941192-95043855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95035604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 658 (S658P)

Ref Sequence

ENSEMBL: ENSMUSP00000078878 (fasta)

Gene Model

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

AlphaFold

Q8BJ71

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079961
AA Change: S658P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
AA Change: S658P

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

possibly damaging
Transcript: ENSMUST00000109547
AA Change: S658P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
AA Change: S658P

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

possibly damaging
Transcript: ENSMUST00000211822
AA Change: S535P

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212824
AA Change: S658P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,602,793 (GRCm39)	P52S	probably damaging	Het
6820408C15Rik	C	A	2: 152,270,867 (GRCm39)	P30Q	probably damaging	Het
Adam18	C	T	8: 25,118,210 (GRCm39)	V569I	probably benign	Het
Adnp2	A	T	18: 80,174,133 (GRCm39)	L92Q	probably damaging	Het
Ahi1	C	T	10: 20,857,300 (GRCm39)	H632Y	possibly damaging	Het
Akap9	A	G	5: 4,127,311 (GRCm39)	N3720D	possibly damaging	Het
Alpk3	T	C	7: 80,742,687 (GRCm39)	S835P	possibly damaging	Het
Amer3	C	T	1: 34,627,836 (GRCm39)	L692F	probably benign	Het
Anks6	T	A	4: 47,044,880 (GRCm39)	D342V	unknown	Het
Arap2	G	T	5: 62,761,841 (GRCm39)	F1628L	probably benign	Het
Arhgap21	T	G	2: 20,896,953 (GRCm39)	I108L	possibly damaging	Het
Cacna1h	T	C	17: 25,612,487 (GRCm39)	I404V	probably damaging	Het
Cacna2d3	G	T	14: 28,627,268 (GRCm39)	A1077E	probably benign	Het
Cacng6	T	C	7: 3,483,281 (GRCm39)	V203A	probably benign	Het
Clec1b	A	T	6: 129,382,201 (GRCm39)	D226V	possibly damaging	Het
Crb1	A	C	1: 139,171,208 (GRCm39)	S727R	probably benign	Het
Dars1	T	C	1: 128,343,112 (GRCm39)	I35V		Het
Ddo	T	A	10: 40,523,913 (GRCm39)	V301D	probably damaging	Het
Diablo	C	A	5: 123,662,196 (GRCm39)		probably benign	Het
Dipk1a	T	A	5: 108,057,368 (GRCm39)	K397*	probably null	Het
Dnhd1	C	A	7: 105,353,473 (GRCm39)	H2875Q	probably benign	Het
E230025N22Rik	A	G	18: 36,820,336 (GRCm39)	L282P		Het
Ebna1bp2	A	G	4: 118,478,190 (GRCm39)	Q21R	probably benign	Het
Exoc7	C	T	11: 116,195,724 (GRCm39)	V93I	probably benign	Het
Foxk1	T	A	5: 142,387,713 (GRCm39)	Y145*	probably null	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Fsip2	C	T	2: 82,798,173 (GRCm39)	T489M	probably benign	Het
Gbf1	C	T	19: 46,260,046 (GRCm39)	T1067I		Het
Ggta1	T	A	2: 35,313,333 (GRCm39)	T3S	possibly damaging	Het
Guf1	T	A	5: 69,721,951 (GRCm39)	V370E	possibly damaging	Het
Hmg20a	A	G	9: 56,384,472 (GRCm39)	S81G	probably benign	Het
Igf2r	G	A	17: 12,905,641 (GRCm39)	T2230I	probably damaging	Het
Ighmbp2	A	T	19: 3,332,785 (GRCm39)	M1K	probably null	Het
Klhdc9	T	C	1: 171,187,914 (GRCm39)	T106A	probably benign	Het
Kti12	T	C	4: 108,705,935 (GRCm39)	M283T	possibly damaging	Het
Lrig3	C	T	10: 125,845,964 (GRCm39)	P798S	probably benign	Het
Lrp8	T	C	4: 107,711,469 (GRCm39)	F333L	probably damaging	Het
Lyn	T	A	4: 3,746,757 (GRCm39)	D178E	probably benign	Het
Magi1	G	A	6: 93,655,431 (GRCm39)	A1405V	probably damaging	Het
Magi1	A	C	6: 93,659,931 (GRCm39)		probably null	Het
Mdga1	G	A	17: 30,076,569 (GRCm39)	P68S	probably damaging	Het
Mfsd8	T	C	3: 40,793,933 (GRCm39)	S25G	probably benign	Het
Mgat1	C	A	11: 49,152,694 (GRCm39)	S392R	probably benign	Het
Mtmr2	C	T	9: 13,713,301 (GRCm39)	Q493*	probably null	Het
Myocd	A	T	11: 65,078,410 (GRCm39)	S462T	probably damaging	Het
Ndnf	A	G	6: 65,681,164 (GRCm39)	Y481C	probably damaging	Het
Neb	G	T	2: 52,065,138 (GRCm39)	R6258S	probably damaging	Het
Nlrp4c	A	G	7: 6,063,624 (GRCm39)	M11V	probably benign	Het
Obox2	T	A	7: 15,130,771 (GRCm39)	M1K	probably null	Het
Or10ag55-ps1	T	A	2: 87,115,037 (GRCm39)	Y134*	probably null	Het
Or10g9	T	A	9: 39,912,367 (GRCm39)	H52L	possibly damaging	Het
Or1e20-ps1	G	T	11: 73,324,789 (GRCm39)	H88N	unknown	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Pcdh18	T	A	3: 49,710,884 (GRCm39)	I144F	possibly damaging	Het
Pcdhgb5	C	T	18: 37,864,982 (GRCm39)	T259I	probably damaging	Het
Pclo	A	G	5: 14,763,436 (GRCm39)	T685A		Het
Pecam1	T	C	11: 106,588,121 (GRCm39)	T139A	possibly damaging	Het
Pi15	T	A	1: 17,695,178 (GRCm39)	L265Q	probably damaging	Het
Pkd1l3	T	A	8: 110,394,173 (GRCm39)	F2053L	probably damaging	Het
Ppp1r36	A	G	12: 76,485,900 (GRCm39)	I353V	probably benign	Het
Ppp1r9a	A	G	6: 5,157,004 (GRCm39)	S961G	probably benign	Het
Rbm42	T	C	7: 30,345,395 (GRCm39)	R151G	possibly damaging	Het
Rnf224	T	C	2: 25,126,354 (GRCm39)		probably benign	Het
Scn2a	C	T	2: 65,518,974 (GRCm39)	T400I	probably damaging	Het
Slc17a5	T	A	9: 78,445,562 (GRCm39)	Q457L	possibly damaging	Het
Slc5a4a	A	T	10: 76,022,396 (GRCm39)	D577V	probably benign	Het
Stim2	A	G	5: 54,232,707 (GRCm39)	D123G	probably damaging	Het
Stxbp5l	A	G	16: 37,061,734 (GRCm39)	F359L	probably benign	Het
Syne1	T	C	10: 5,196,386 (GRCm39)	D3882G	possibly damaging	Het
Synj1	G	T	16: 90,790,912 (GRCm39)	S83Y	possibly damaging	Het
Tfip11	C	T	5: 112,479,029 (GRCm39)	T199I	probably damaging	Het
Thoc2l	T	A	5: 104,669,644 (GRCm39)	S1389T	probably benign	Het
Tiam1	T	A	16: 89,591,653 (GRCm39)	D1349V	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ucn3	T	A	13: 3,991,313 (GRCm39)	D113V	probably damaging	Het
Ugt3a1	A	G	15: 9,306,370 (GRCm39)	D173G	possibly damaging	Het
Uimc1	C	A	13: 55,188,427 (GRCm39)	R544L	possibly damaging	Het
Unc13c	T	C	9: 73,536,485 (GRCm39)	S1623G	probably damaging	Het
Vmn2r41	T	C	7: 8,141,391 (GRCm39)	N691S	probably benign	Het
Wdr24	T	A	17: 26,043,190 (GRCm39)	M4K	probably damaging	Het
Wdr48	T	C	9: 119,741,454 (GRCm39)	F332L	probably benign	Het
Xpo7	A	G	14: 70,903,466 (GRCm39)	V1080A	probably benign	Het
Zc3h3	A	T	15: 75,651,261 (GRCm39)	I653N	probably damaging	Het
Zfp1005	A	T	2: 150,109,517 (GRCm39)	H69L	possibly damaging	Het
Zfp362	T	A	4: 128,688,681 (GRCm39)	M1L	unknown	Het
Zfp503	A	G	14: 22,036,041 (GRCm39)	C292R	possibly damaging	Het

Other mutations in Nup93

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Nup93	APN	8	95,035,651 (GRCm39)	critical splice donor site	probably null
IGL01652:Nup93	APN	8	95,023,187 (GRCm39)	missense	possibly damaging	0.93
IGL02003:Nup93	APN	8	95,028,737 (GRCm39)	nonsense	probably null
IGL02169:Nup93	APN	8	95,028,757 (GRCm39)	missense	probably damaging	1.00
IGL02212:Nup93	APN	8	95,038,290 (GRCm39)	critical splice donor site	probably null
IGL02551:Nup93	APN	8	94,954,461 (GRCm39)	nonsense	probably null
IGL02568:Nup93	APN	8	95,036,263 (GRCm39)	missense	probably damaging	1.00
IGL03094:Nup93	APN	8	95,023,130 (GRCm39)	missense	probably benign
IGL03248:Nup93	APN	8	95,032,716 (GRCm39)	missense	probably damaging	0.98
IGL03273:Nup93	APN	8	95,032,905 (GRCm39)	missense	probably benign	0.01
IGL03401:Nup93	APN	8	95,036,339 (GRCm39)	splice site	probably null
PIT4585001:Nup93	UTSW	8	94,970,355 (GRCm39)	missense	probably benign	0.25
R0409:Nup93	UTSW	8	95,030,293 (GRCm39)	missense	probably damaging	1.00
R0748:Nup93	UTSW	8	95,034,571 (GRCm39)	missense	probably damaging	1.00
R0891:Nup93	UTSW	8	95,007,891 (GRCm39)	splice site	probably benign
R1667:Nup93	UTSW	8	95,019,315 (GRCm39)	missense	possibly damaging	0.71
R1696:Nup93	UTSW	8	95,023,183 (GRCm39)	missense	probably benign	0.29
R1862:Nup93	UTSW	8	95,032,730 (GRCm39)	missense	probably damaging	1.00
R2069:Nup93	UTSW	8	94,970,367 (GRCm39)	missense	probably damaging	1.00
R2143:Nup93	UTSW	8	95,023,108 (GRCm39)	nonsense	probably null
R2187:Nup93	UTSW	8	95,027,478 (GRCm39)	missense	probably damaging	1.00
R2228:Nup93	UTSW	8	95,030,819 (GRCm39)	missense	probably benign	0.27
R2229:Nup93	UTSW	8	95,030,819 (GRCm39)	missense	probably benign	0.27
R2254:Nup93	UTSW	8	94,954,485 (GRCm39)	critical splice donor site	probably null
R2884:Nup93	UTSW	8	95,030,266 (GRCm39)	missense	probably damaging	1.00
R4521:Nup93	UTSW	8	95,041,264 (GRCm39)	missense	probably damaging	1.00
R4563:Nup93	UTSW	8	95,034,520 (GRCm39)	missense	probably damaging	1.00
R4900:Nup93	UTSW	8	95,013,231 (GRCm39)	missense	probably benign	0.25
R5570:Nup93	UTSW	8	95,041,298 (GRCm39)	missense	probably damaging	1.00
R6226:Nup93	UTSW	8	95,013,165 (GRCm39)	missense	probably damaging	1.00
R6489:Nup93	UTSW	8	95,028,716 (GRCm39)	missense	probably benign	0.10
R6658:Nup93	UTSW	8	95,030,807 (GRCm39)	missense	probably benign	0.02
R6817:Nup93	UTSW	8	95,041,310 (GRCm39)	critical splice donor site	probably null
R6895:Nup93	UTSW	8	94,970,314 (GRCm39)	missense	probably damaging	1.00
R6955:Nup93	UTSW	8	95,036,301 (GRCm39)	missense	probably damaging	0.96
R7476:Nup93	UTSW	8	95,030,260 (GRCm39)	missense	probably damaging	1.00
R7643:Nup93	UTSW	8	95,013,247 (GRCm39)	critical splice donor site	probably null
R7994:Nup93	UTSW	8	95,032,930 (GRCm39)	missense	probably benign	0.15
R8461:Nup93	UTSW	8	95,007,963 (GRCm39)	critical splice donor site	probably null
R9177:Nup93	UTSW	8	94,954,371 (GRCm39)	missense	probably benign	0.25
R9264:Nup93	UTSW	8	95,019,348 (GRCm39)	missense	probably benign	0.01
R9532:Nup93	UTSW	8	95,041,249 (GRCm39)	missense	probably damaging	1.00
R9629:Nup93	UTSW	8	95,033,267 (GRCm39)	missense	probably damaging	0.99
R9721:Nup93	UTSW	8	95,030,313 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTGTCCACACAACCCTGG -3'
(R):5'- TTACTACCACTGAAGGACGTTC -3'

Sequencing Primer
(F):5'- ACCCTGGTCTCAGAATATAGAGTAG -3'
(R):5'- CTACCACTGAAGGACGTTCTGAAAG -3'

Posted On

2022-08-09