Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02568:Nup93'

298891

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 #

IGL02568

Quality Score

Status

Chromosome

Chromosomal Location

94214564-94317227 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94309635 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 689 (F689S)

Ref Sequence

ENSEMBL: ENSMUSP00000148700 (fasta)

Gene Model

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

AlphaFold

Q8BJ71

Predicted Effect

probably damaging
Transcript: ENSMUST00000079961
AA Change: F689S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
AA Change: F689S

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: F689S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
AA Change: F689S

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: F566S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212824
AA Change: F689S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,148,981		probably benign	Het
Abcg5	C	T	17: 84,670,399	R143Q	probably damaging	Het
Arap3	G	A	18: 37,996,658	T150I	probably benign	Het
Arhgap32	T	C	9: 32,247,194	V175A	probably damaging	Het
Bpifb3	A	G	2: 153,924,801	E208G	probably benign	Het
C2	T	A	17: 34,864,349	D518V	possibly damaging	Het
C6	T	A	15: 4,791,164	C552*	probably null	Het
Ccdc38	A	T	10: 93,579,823	D447V	probably damaging	Het
Cept1	C	T	3: 106,503,719	R386H	probably benign	Het
Comt	A	G	16: 18,411,704	V85A	probably damaging	Het
Ddx24	G	T	12: 103,417,312	L627I	probably damaging	Het
Efemp1	T	C	11: 28,916,971		probably null	Het
Etf1	T	C	18: 34,913,661	T99A	possibly damaging	Het
Fhad1	T	C	4: 141,932,794	E68G	probably null	Het
Fzd3	C	A	14: 65,235,940		probably benign	Het
Gins3	T	C	8: 95,637,978	F119L	probably benign	Het
Golga5	G	T	12: 102,472,079	V18L	probably benign	Het
Il16	C	A	7: 83,661,276	R474M	probably damaging	Het
Itpr1	C	A	6: 108,339,554	Q71K	possibly damaging	Het
Kif21b	T	G	1: 136,172,867	L1562R	probably damaging	Het
Lamc2	T	C	1: 153,166,262	E42G	possibly damaging	Het
Mmp3	T	G	9: 7,446,001	L35R	probably benign	Het
Naip6	C	A	13: 100,316,272	G94W	probably damaging	Het
Nccrp1	G	A	7: 28,544,480	A226V	probably damaging	Het
Nckap5l	A	G	15: 99,425,683	Y980H	probably damaging	Het
Ncoa3	T	C	2: 166,069,357	S1345P	probably damaging	Het
Nop2	T	C	6: 125,140,850	S455P	probably damaging	Het
Olfr1466	T	C	19: 13,342,219	F154L	probably benign	Het
Plekhm1	T	A	11: 103,395,050	E186D	probably damaging	Het
Plxdc1	T	C	11: 97,978,564	Q66R	probably damaging	Het
Prkdc	T	G	16: 15,726,542	Y1799D	probably damaging	Het
Rasa2	A	G	9: 96,580,510	F220L	probably damaging	Het
Rftn1	T	C	17: 50,036,999	D87G	probably damaging	Het
Rgs6	C	T	12: 83,070,602	T266M	probably benign	Het
Sec16a	A	G	2: 26,436,042	Y1208H	probably damaging	Het
Slc12a1	G	T	2: 125,184,728	V428L	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Svep1	T	A	4: 58,135,441	T556S	probably benign	Het
Tanc2	T	A	11: 105,776,951	N119K	probably benign	Het
Tpgs1	T	A	10: 79,669,404		probably benign	Het
Tpm3-rs7	A	G	14: 113,314,938	E88G	probably damaging	Het
Tsr1	T	C	11: 74,900,378	V261A	probably benign	Het
Usp18	C	T	6: 121,261,091	T143I	probably benign	Het
Vmn2r24	T	C	6: 123,815,853	I713T	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	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
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