Mutagenetix > Incidental Mutation

Incidental Mutation 'R9177:Nup93'

696753

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: 0.914) question?

Stock #

R9177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94214564-94317227 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94227743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 23 (I23F)

Ref Sequence

ENSEMBL: ENSMUSP00000078878 (fasta)

Gene Model

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

AlphaFold

Q8BJ71

Predicted Effect

probably benign
Transcript: ENSMUST00000079961
AA Change: I23F

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
AA Change: I23F

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: I23F

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
AA Change: I23F

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: ENSMUST00000212824
AA Change: I23F

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,069,916	V1622D	probably damaging	Het
Acadsb	C	T	7: 131,432,034	T260I	probably damaging	Het
Acap2	A	T	16: 31,136,574	V161E	probably damaging	Het
Alk	T	C	17: 71,874,195	T1367A	probably damaging	Het
Atg2a	A	C	19: 6,241,875	H27P	probably damaging	Het
Atp2c1	C	T	9: 105,459,659		probably null	Het
C1s1	T	G	6: 124,531,403	K542N	probably damaging	Het
Camk1d	A	G	2: 5,299,090	S351P	probably benign	Het
Carf	C	A	1: 60,109,399	Q85K	possibly damaging	Het
Caskin2	T	C	11: 115,807,857	N43S	probably damaging	Het
Cd40	T	C	2: 165,063,545	C161R	probably damaging	Het
Cdh19	A	G	1: 110,949,381	F76S	probably damaging	Het
Cdkl1	T	C	12: 69,747,326	N346D	probably benign	Het
Cdon	A	G	9: 35,469,934	D540G	probably benign	Het
Cep164	T	A	9: 45,779,762	E379V	probably damaging	Het
Clock	T	C	5: 76,229,409	N681S	probably benign	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Col6a5	T	G	9: 105,930,953	K965N	unknown	Het
Dctn4	T	A	18: 60,526,232	M1K	probably null	Het
Dhx30	T	C	9: 110,086,682	D741G	probably damaging	Het
Dhx37	A	G	5: 125,430,894	V104A	probably benign	Het
Dnah12	A	G	14: 26,849,298	K2788R	possibly damaging	Het
Egfr	T	A	11: 16,905,410	D898E	probably damaging	Het
Eif2ak4	G	C	2: 118,441,220		probably null	Het
Eif6	A	G	2: 155,823,932	L101P	probably damaging	Het
Etaa1	A	T	11: 17,946,419	V566E	probably damaging	Het
Fam126b	T	C	1: 58,552,202	D94G	probably damaging	Het
Far2	C	T	6: 148,158,920	T257I	probably benign	Het
Fuca2	G	A	10: 13,514,819	W453*	probably null	Het
Galntl6	A	T	8: 57,857,556	Y370*	probably null	Het
Gcn1l1	T	C	5: 115,581,808	V374A	probably benign	Het
Gm11238	T	C	4: 73,657,136	S351P	probably damaging	Het
Gm884	T	A	11: 103,617,437	H1235L	unknown	Het
Hfe2	T	C	3: 96,528,565	F380L	probably benign	Het
Ifi202b	A	T	1: 173,977,383	M1K	probably null	Het
Lama4	A	G	10: 39,074,692	Y997C	probably damaging	Het
Lepr	T	A	4: 101,745,601	C195*	probably null	Het
Lrrc73	T	C	17: 46,254,609	S89P	probably benign	Het
Macf1	T	C	4: 123,473,789	E2393G	probably damaging	Het
Mdga2	T	A	12: 66,470,707	T118S	possibly damaging	Het
Mtf2	A	G	5: 108,087,083	K124R	probably benign	Het
Muc5b	T	C	7: 141,845,338	Y339H	unknown	Het
Nes	G	A	3: 87,979,705	G1757E	probably damaging	Het
Nfatc4	A	T	14: 55,827,228	I391F	probably damaging	Het
Olfr1197	A	C	2: 88,728,830	Y256*	probably null	Het
Olfr1499	A	T	19: 13,815,024	C189S	probably damaging	Het
Olfr183	T	G	16: 58,999,720	F12V	probably damaging	Het
Olfr220	A	C	1: 174,449,357	T245P	probably damaging	Het
Olfr828	G	T	9: 18,815,446	Q283K	probably damaging	Het
Pak7	A	C	2: 136,101,206	M338R	probably benign	Het
Papola	A	G	12: 105,799,773	E44G	probably benign	Het
Pcdh15	A	T	10: 74,643,623	E522V	probably benign	Het
Peli2	A	G	14: 48,281,470	E225G	probably benign	Het
Pla2g1b	T	G	5: 115,474,536	I117S	probably damaging	Het
Plxnd1	G	T	6: 115,966,508	Q1246K	probably benign	Het
Pole	A	G	5: 110,332,422	E1953G	probably benign	Het
Pus7l	T	C	15: 94,533,564	I395V	probably benign	Het
Shisa7	T	G	7: 4,834,334	D244A	probably damaging	Het
Slco3a1	T	C	7: 74,303,198	T538A	probably benign	Het
Syk	T	A	13: 52,612,444	N188K	probably benign	Het
Tcf20	A	G	15: 82,856,504	S249P	probably benign	Het
Tmem25	T	C	9: 44,798,232	T91A	possibly damaging	Het
Trank1	T	C	9: 111,392,511	V2772A	probably benign	Het
Ttn	A	T	2: 76,766,103	Y20155*	probably null	Het
Uchl4	C	T	9: 64,235,704	H156Y	probably benign	Het
Ulbp1	A	T	10: 7,446,392	L295Q	unknown	Het
Vwf	G	A	6: 125,604,291	A631T		Het
Zfp810	C	T	9: 22,278,640	C324Y	probably damaging	Het
Zswim8	T	C	14: 20,711,840	L227P	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
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
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'- GATGAACTGTTCCCCTTTCGG -3'
(R):5'- TCTATCTGGCTTGTGACTGTCATAG -3'

Sequencing Primer
(F):5'- CCTTTCGGTTTACAAAAAGTCCTGG -3'
(R):5'- GTCATAGAAGAAATTGATCTGCTCCC -3'

Posted On

2022-02-07