Mutagenetix > Incidental Mutation

Incidental Mutation 'R1862:Nup93'

204038

Institutional Source

Beutler Lab

Gene Symbol

Nup93

Ensembl Gene

ENSMUSG00000032939

Gene Name

nucleoporin 93

Synonyms

2410008G02Rik

MMRRC Submission

039885-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R1862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94214564-94317227 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94306102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 539 (F539L)

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: F539L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
AA Change: F539L

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: F539L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
AA Change: F539L

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: F416L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212824
AA Change: F539L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212984

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	A	14: 8,241,416 (GRCm38)	E565D	probably benign	Het
Adam30	A	T	3: 98,162,113 (GRCm38)	K421*	probably null	Het
Atp6v1b1	A	G	6: 83,749,852 (GRCm38)		probably null	Het
Cacna1a	A	T	8: 84,415,930 (GRCm38)	I96F	possibly damaging	Het
Card10	G	A	15: 78,780,514 (GRCm38)	R747W	probably damaging	Het
Cdh8	T	A	8: 99,190,394 (GRCm38)	D363V	probably damaging	Het
Cecr2	T	C	6: 120,757,941 (GRCm38)	Y685H	probably damaging	Het
Cmklr1	T	C	5: 113,614,407 (GRCm38)	T178A	probably damaging	Het
Col16a1	G	A	4: 130,092,782 (GRCm38)		probably null	Het
Col4a1	C	T	8: 11,226,439 (GRCm38)		probably benign	Het
Coro2a	T	A	4: 46,548,797 (GRCm38)	I166F	possibly damaging	Het
Cry2	T	C	2: 92,424,566 (GRCm38)	H148R	probably damaging	Het
Crygd	T	C	1: 65,061,974 (GRCm38)	Y154C	probably benign	Het
Cubn	T	C	2: 13,308,561 (GRCm38)	Y3066C	probably damaging	Het
Defb15	C	T	8: 21,929,986 (GRCm38)	E42K	possibly damaging	Het
Dnah12	A	T	14: 26,709,257 (GRCm38)	Y340F	probably benign	Het
Dnah12	A	G	14: 26,697,398 (GRCm38)	D147G	probably benign	Het
Dot1l	G	T	10: 80,783,539 (GRCm38)	R193L	probably damaging	Het
Dupd1	A	G	14: 21,686,689 (GRCm38)	V115A	probably benign	Het
Esd	A	C	14: 74,742,074 (GRCm38)	Y119S	probably damaging	Het
Esp36	A	G	17: 38,419,439 (GRCm38)		probably benign	Het
Etfbkmt	T	A	6: 149,144,151 (GRCm38)	M1K	probably null	Het
Exph5	A	G	9: 53,376,248 (GRCm38)	H1543R	probably benign	Het
Fam92a	C	T	4: 12,155,717 (GRCm38)	V306I	possibly damaging	Het
Fbxo16	A	G	14: 65,270,803 (GRCm38)	T23A	probably damaging	Het
Gm11492	A	G	11: 87,567,235 (GRCm38)	H145R	possibly damaging	Het
Gm6614	T	C	6: 142,003,423 (GRCm38)	M76V	possibly damaging	Het
Gorasp2	C	A	2: 70,679,464 (GRCm38)	H136Q	probably damaging	Het
Hdc	T	A	2: 126,597,933 (GRCm38)	I367F	probably benign	Het
Hmcn1	C	T	1: 150,638,900 (GRCm38)	V3574M	probably benign	Het
Ilvbl	A	G	10: 78,584,124 (GRCm38)	D592G	probably benign	Het
Inmt	G	A	6: 55,174,883 (GRCm38)	A34V	probably damaging	Het
Ints9	A	C	14: 65,026,413 (GRCm38)	H378P	probably benign	Het
Kcnh7	T	A	2: 62,787,754 (GRCm38)	I464L	possibly damaging	Het
Kcnt2	T	A	1: 140,425,330 (GRCm38)	V259D	probably damaging	Het
Lipo1	A	G	19: 33,784,692 (GRCm38)	F135S	probably damaging	Het
Lrba	T	C	3: 86,773,203 (GRCm38)		probably null	Het
Mapk1	T	A	16: 17,026,429 (GRCm38)	S22T	probably benign	Het
Mbd3l2	T	C	9: 18,444,921 (GRCm38)	S181P	possibly damaging	Het
Mgat5	C	T	1: 127,459,969 (GRCm38)	P554L	probably damaging	Het
Mki67	T	C	7: 135,699,361 (GRCm38)	T1315A	probably benign	Het
Mprip	C	T	11: 59,758,221 (GRCm38)	T917M	possibly damaging	Het
Mroh3	T	A	1: 136,185,988 (GRCm38)	I688F	probably benign	Het
Myo1d	A	T	11: 80,663,048 (GRCm38)	Y536N	probably damaging	Het
Neb	C	T	2: 52,162,187 (GRCm38)		probably null	Het
Noc2l	A	G	4: 156,237,708 (GRCm38)	R161G	probably benign	Het
Nup54	T	A	5: 92,419,567 (GRCm38)	I375L	possibly damaging	Het
Olfr138	A	G	17: 38,275,344 (GRCm38)	E191G	probably damaging	Het
Olfr417	T	A	1: 174,369,452 (GRCm38)	H178Q	probably damaging	Het
Olfr480	A	C	7: 108,066,725 (GRCm38)	Y24*	probably null	Het
Olfr874	T	A	9: 37,746,968 (GRCm38)	M278K	probably benign	Het
Panx1	A	T	9: 15,007,428 (GRCm38)	D378E	probably damaging	Het
Papss1	T	A	3: 131,583,184 (GRCm38)	V170D	possibly damaging	Het
Pcnx	T	C	12: 81,918,732 (GRCm38)	S558P	probably damaging	Het
Pde3a	G	T	6: 141,487,513 (GRCm38)	A757S	probably damaging	Het
Pde3a	T	A	6: 141,250,353 (GRCm38)	I255N	probably damaging	Het
Pdzph1	A	G	17: 58,922,583 (GRCm38)	Y1027H	probably damaging	Het
Pkhd1	G	T	1: 20,551,020 (GRCm38)	R805S	probably benign	Het
Polr1a	G	A	6: 71,909,203 (GRCm38)	G14D	probably damaging	Het
Prg4	T	A	1: 150,460,669 (GRCm38)	D60V	probably damaging	Het
Ptprc	T	C	1: 138,112,227 (GRCm38)	S311G	probably benign	Het
Rapgefl1	G	A	11: 98,842,209 (GRCm38)	R205K	probably benign	Het
Rcan2	A	T	17: 44,037,089 (GRCm38)		probably null	Het
Rock1	A	G	18: 10,079,207 (GRCm38)	I1087T	probably damaging	Het
Sectm1b	A	G	11: 121,054,942 (GRCm38)	I191T	possibly damaging	Het
Setd1b	T	C	5: 123,147,613 (GRCm38)	S241P	unknown	Het
Srpk2	T	C	5: 23,524,150 (GRCm38)	K497R	probably benign	Het
Sspo	T	C	6: 48,491,006 (GRCm38)	S4296P	probably damaging	Het
Syne4	T	C	7: 30,316,883 (GRCm38)	V168A	probably benign	Het
Tank	T	C	2: 61,649,912 (GRCm38)	F264S	probably damaging	Het
Ticrr	T	C	7: 79,695,207 (GRCm38)	S1607P	probably damaging	Het
Trim30a	A	G	7: 104,411,198 (GRCm38)	V457A	probably damaging	Het
Trim43b	T	A	9: 89,085,571 (GRCm38)	K336N	probably damaging	Het
Trim47	T	C	11: 116,106,137 (GRCm38)	Q598R	probably damaging	Het
Tspan12	T	C	6: 21,851,023 (GRCm38)	N18S	probably damaging	Het
Ubap2	A	G	4: 41,221,607 (GRCm38)	S231P	probably benign	Het
Vit	A	G	17: 78,622,746 (GRCm38)	D380G	probably damaging	Het
Vmn2r2	T	C	3: 64,134,521 (GRCm38)	N258D	possibly damaging	Het
Vmn2r52	C	T	7: 10,173,406 (GRCm38)	C131Y	possibly damaging	Het
Zadh2	T	C	18: 84,095,318 (GRCm38)	V373A	possibly damaging	Het
Zfp58	A	T	13: 67,491,188 (GRCm38)	F395I	probably damaging	Het
Zfp940	C	A	7: 29,845,010 (GRCm38)	G491C	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
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
R2229: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'- TACTGGGAAATGGGGACTGC -3'
(R):5'- TCGACTTTCTATCACAAGCTCG -3'

Sequencing Primer
(F):5'- TGGGGACTGCACCACAG -3'
(R):5'- ACAGCGCAGAAACATGTTTTC -3'

Posted On

2014-06-23