Mutagenetix > Incidental Mutation

Incidental Mutation 'R2229:Nup93'

239609

Institutional Source

Beutler Lab

Gene Symbol

Nup93

Ensembl Gene

ENSMUSG00000032939

Gene Name

nucleoporin 93

Synonyms

2410008G02Rik

MMRRC Submission

040230-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R2229 (G1)

Quality Score

225

Status

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: 97.3%
20x: 95.1%

Validation Efficiency

99% (78/79)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	T	8: 40,680,365 (GRCm38)	I291L	probably benign	Het
Adcy8	C	A	15: 64,822,207 (GRCm38)	R407L	possibly damaging	Het
Adgb	A	T	10: 10,436,051 (GRCm38)	V212E	probably damaging	Het
Adgrg7	C	T	16: 56,752,403 (GRCm38)	S350N	probably benign	Het
Agbl1	A	G	7: 76,433,378 (GRCm38)	T448A	probably benign	Het
Aldh1l1	C	G	6: 90,583,186 (GRCm38)	T605R	probably damaging	Het
Arfip1	A	T	3: 84,547,973 (GRCm38)	N18K	probably damaging	Het
Atp6v1b2	C	A	8: 69,102,759 (GRCm38)		probably null	Het
Banp	G	A	8: 121,978,685 (GRCm38)	S98N	probably damaging	Het
Btnl9	T	C	11: 49,169,118 (GRCm38)	D601G	probably damaging	Het
C9	T	C	15: 6,445,420 (GRCm38)	I20T	possibly damaging	Het
Cacna1b	A	G	2: 24,685,804 (GRCm38)	V744A	probably damaging	Het
Catsper3	A	G	13: 55,808,054 (GRCm38)	E311G	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm38)		probably null	Het
Cdc5l	A	G	17: 45,407,846 (GRCm38)	Y615H	probably benign	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 134,074,526 (GRCm38)		probably benign	Het
Eml4	C	T	17: 83,451,056 (GRCm38)	P502S	probably benign	Het
Fsip1	T	C	2: 118,222,444 (GRCm38)	E367G	probably benign	Het
Gja3	T	C	14: 57,036,714 (GRCm38)	D67G	probably damaging	Het
Gm4894	T	C	9: 49,274,190 (GRCm38)		probably benign	Het
Gm7853	A	G	14: 36,089,527 (GRCm38)		noncoding transcript	Het
Gmps	T	G	3: 64,014,263 (GRCm38)	Y562*	probably null	Het
Golga2	C	A	2: 32,306,465 (GRCm38)	P976T	probably benign	Het
Gpr182	T	A	10: 127,750,141 (GRCm38)	I314F	possibly damaging	Het
Gprc6a	A	G	10: 51,626,795 (GRCm38)	V324A	possibly damaging	Het
Gykl1	A	G	18: 52,695,267 (GRCm38)	T516A	probably benign	Het
Hist2h2ab	T	C	3: 96,220,106 (GRCm38)	L64P	possibly damaging	Het
Ifit1bl2	G	T	19: 34,619,230 (GRCm38)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,333,496 (GRCm38)	S920P	probably damaging	Het
Kif3c	T	A	12: 3,366,671 (GRCm38)	S231T	probably benign	Het
Kpna7	A	T	5: 144,989,697 (GRCm38)	Y482N	probably damaging	Het
Lmnb2	T	C	10: 80,904,392 (GRCm38)		probably benign	Het
Lrrc69	T	C	4: 14,773,694 (GRCm38)	S121G	probably benign	Het
Mppe1	A	G	18: 67,228,011 (GRCm38)		probably null	Het
Muc5b	T	A	7: 141,861,644 (GRCm38)	C2776S	possibly damaging	Het
Myh8	T	G	11: 67,308,348 (GRCm38)	N1893K	probably damaging	Het
Myo7a	T	C	7: 98,054,910 (GRCm38)	T1932A	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm38)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,455,934 (GRCm38)		probably null	Het
Nek5	A	T	8: 22,113,632 (GRCm38)	N151K	possibly damaging	Het
Oca2	T	A	7: 56,357,155 (GRCm38)	H663Q	probably benign	Het
Optn	T	A	2: 5,024,117 (GRCm38)	H525L	probably damaging	Het
Pdzph1	A	G	17: 58,932,412 (GRCm38)		probably benign	Het
Pikfyve	A	G	1: 65,267,855 (GRCm38)	K1801E	probably damaging	Het
Pkd2l2	G	A	18: 34,430,329 (GRCm38)	V478M	probably damaging	Het
Pmepa1	G	A	2: 173,228,133 (GRCm38)	R210W	probably damaging	Het
Ppp1r3c	C	A	19: 36,733,698 (GRCm38)	R224L	probably benign	Het
Prpf19	A	G	19: 10,897,598 (GRCm38)	T39A	probably benign	Het
Pwwp2b	T	C	7: 139,255,188 (GRCm38)	C182R	probably damaging	Het
Rcan3	T	C	4: 135,425,377 (GRCm38)	D11G	probably benign	Het
Rgsl1	C	A	1: 153,822,358 (GRCm38)	W482L	possibly damaging	Het
Sfxn4	C	T	19: 60,851,020 (GRCm38)	G200E	probably damaging	Het
Slc4a8	T	C	15: 100,809,299 (GRCm38)	I848T	probably damaging	Het
Slc7a13	T	C	4: 19,839,399 (GRCm38)	V334A	probably benign	Het
Smarcc2	A	G	10: 128,488,341 (GRCm38)		probably benign	Het
Spata18	A	T	5: 73,666,901 (GRCm38)	I156L	possibly damaging	Het
Spats2	T	C	15: 99,174,453 (GRCm38)		probably null	Het
Tas2r104	G	A	6: 131,685,132 (GRCm38)	H205Y	probably damaging	Het
Tcof1	A	G	18: 60,832,177 (GRCm38)		probably benign	Het
Tex15	C	A	8: 33,571,237 (GRCm38)	H232N	probably benign	Het
Tg	A	T	15: 66,674,011 (GRCm38)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,644,776 (GRCm38)		probably null	Het
Trim25	T	A	11: 89,016,621 (GRCm38)	V602E	probably damaging	Het
Ttll9	A	G	2: 152,983,063 (GRCm38)	E54G	probably damaging	Het
Ttn	T	C	2: 76,729,324 (GRCm38)	T29578A	probably damaging	Het
Tubgcp5	A	G	7: 55,830,881 (GRCm38)	Q960R	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm38)	P46S	probably benign	Het
Usp13	A	G	3: 32,917,551 (GRCm38)	I727V	probably benign	Het
Vmn2r67	T	A	7: 85,152,042 (GRCm38)	I229F	probably benign	Het
Vmn2r92	A	C	17: 18,167,392 (GRCm38)	I220L	probably benign	Het
Wnk4	T	A	11: 101,275,641 (GRCm38)		probably benign	Het
Wwp1	A	T	4: 19,641,745 (GRCm38)	Y437N	probably damaging	Het
Zdhhc5	A	G	2: 84,690,213 (GRCm38)	I540T	probably damaging	Het
Zfp729b	T	C	13: 67,595,265 (GRCm38)	I60M	probably damaging	Het

Other mutations in Nup93

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Nup93	APN	8	94,309,023 (GRCm38)	critical splice donor site	probably null
IGL01652:Nup93	APN	8	94,296,559 (GRCm38)	missense	possibly damaging	0.93
IGL02003:Nup93	APN	8	94,302,109 (GRCm38)	nonsense	probably null
IGL02169:Nup93	APN	8	94,302,129 (GRCm38)	missense	probably damaging	1.00
IGL02212:Nup93	APN	8	94,311,662 (GRCm38)	critical splice donor site	probably null
IGL02551:Nup93	APN	8	94,227,833 (GRCm38)	nonsense	probably null
IGL02568:Nup93	APN	8	94,309,635 (GRCm38)	missense	probably damaging	1.00
IGL03094:Nup93	APN	8	94,296,502 (GRCm38)	missense	probably benign
IGL03248:Nup93	APN	8	94,306,088 (GRCm38)	missense	probably damaging	0.98
IGL03273:Nup93	APN	8	94,306,277 (GRCm38)	missense	probably benign	0.01
IGL03401:Nup93	APN	8	94,309,711 (GRCm38)	splice site	probably null
PIT4585001:Nup93	UTSW	8	94,243,727 (GRCm38)	missense	probably benign	0.25
R0409:Nup93	UTSW	8	94,303,665 (GRCm38)	missense	probably damaging	1.00
R0748:Nup93	UTSW	8	94,307,943 (GRCm38)	missense	probably damaging	1.00
R0891:Nup93	UTSW	8	94,281,263 (GRCm38)	splice site	probably benign
R1667:Nup93	UTSW	8	94,292,687 (GRCm38)	missense	possibly damaging	0.71
R1696:Nup93	UTSW	8	94,296,555 (GRCm38)	missense	probably benign	0.29
R1862:Nup93	UTSW	8	94,306,102 (GRCm38)	missense	probably damaging	1.00
R2069:Nup93	UTSW	8	94,243,739 (GRCm38)	missense	probably damaging	1.00
R2143:Nup93	UTSW	8	94,296,480 (GRCm38)	nonsense	probably null
R2187:Nup93	UTSW	8	94,300,850 (GRCm38)	missense	probably damaging	1.00
R2228:Nup93	UTSW	8	94,304,191 (GRCm38)	missense	probably benign	0.27
R2254:Nup93	UTSW	8	94,227,857 (GRCm38)	critical splice donor site	probably null
R2884:Nup93	UTSW	8	94,303,638 (GRCm38)	missense	probably damaging	1.00
R4521:Nup93	UTSW	8	94,314,636 (GRCm38)	missense	probably damaging	1.00
R4563:Nup93	UTSW	8	94,307,892 (GRCm38)	missense	probably damaging	1.00
R4900:Nup93	UTSW	8	94,286,603 (GRCm38)	missense	probably benign	0.25
R5570:Nup93	UTSW	8	94,314,670 (GRCm38)	missense	probably damaging	1.00
R6226:Nup93	UTSW	8	94,286,537 (GRCm38)	missense	probably damaging	1.00
R6489:Nup93	UTSW	8	94,302,088 (GRCm38)	missense	probably benign	0.10
R6658:Nup93	UTSW	8	94,304,179 (GRCm38)	missense	probably benign	0.02
R6817:Nup93	UTSW	8	94,314,682 (GRCm38)	critical splice donor site	probably null
R6895:Nup93	UTSW	8	94,243,686 (GRCm38)	missense	probably damaging	1.00
R6955:Nup93	UTSW	8	94,309,673 (GRCm38)	missense	probably damaging	0.96
R7476:Nup93	UTSW	8	94,303,632 (GRCm38)	missense	probably damaging	1.00
R7643:Nup93	UTSW	8	94,286,619 (GRCm38)	critical splice donor site	probably null
R7994:Nup93	UTSW	8	94,306,302 (GRCm38)	missense	probably benign	0.15
R8461:Nup93	UTSW	8	94,281,335 (GRCm38)	critical splice donor site	probably null
R9177:Nup93	UTSW	8	94,227,743 (GRCm38)	missense	probably benign	0.25
R9264:Nup93	UTSW	8	94,292,720 (GRCm38)	missense	probably benign	0.01
R9532:Nup93	UTSW	8	94,314,621 (GRCm38)	missense	probably damaging	1.00
R9567:Nup93	UTSW	8	94,308,976 (GRCm38)	missense	possibly damaging	0.94
R9629:Nup93	UTSW	8	94,306,639 (GRCm38)	missense	probably damaging	0.99
R9721:Nup93	UTSW	8	94,303,685 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2014-10-15