Mutagenetix > Incidental Mutation

Incidental Mutation 'R5808:Nup62'

448836

Institutional Source

Beutler Lab

Gene Symbol

Nup62

Ensembl Gene

ENSMUSG00000109511

Gene Name

nucleoporin 62

Synonyms

D7Ertd649e, p62, Nupc1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44465512-44480236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 44479416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 477 (Q477P)

Ref Sequence

ENSEMBL: ENSMUSP00000146695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047085] [ENSMUST00000057195] [ENSMUST00000118125] [ENSMUST00000207085] [ENSMUST00000207103] [ENSMUST00000208626] [ENSMUST00000208172]

AlphaFold

Q63850

Predicted Effect

probably benign
Transcript: ENSMUST00000047085

SMART Domains

Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520

Domain	Start	End	E-Value	Type
Pfam:DUF3548	3	217	8.2e-93	PFAM
low complexity region	249	259	N/A	INTRINSIC
TBC	307	545	3.93e-54	SMART
Blast:TBC	554	594	1e-6	BLAST
low complexity region	597	631	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057195
AA Change: Q477P

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000056785
Gene: ENSMUSG00000109511
AA Change: Q477P

Domain	Start	End	E-Value	Type
low complexity region	3	81	N/A	INTRINSIC
low complexity region	102	112	N/A	INTRINSIC
low complexity region	143	166	N/A	INTRINSIC
low complexity region	199	251	N/A	INTRINSIC
low complexity region	262	296	N/A	INTRINSIC
Pfam:Nsp1_C	317	433	2.3e-43	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107891
AA Change: Q477P

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103523
Gene: ENSMUSG00000043858
AA Change: Q477P

Domain	Start	End	E-Value	Type
low complexity region	3	81	N/A	INTRINSIC
low complexity region	102	112	N/A	INTRINSIC
low complexity region	143	166	N/A	INTRINSIC
low complexity region	199	251	N/A	INTRINSIC
low complexity region	262	296	N/A	INTRINSIC
Pfam:Nsp1_C	318	433	8.1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118125

SMART Domains

Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:AlaDh_PNT_C	47	111	6.6e-9	PFAM
Pfam:Pyr_redox_2	47	111	2e-9	PFAM
Pfam:HI0933_like	67	169	1.8e-8	PFAM
Pfam:FAD_binding_2	68	108	5e-8	PFAM
Pfam:Pyr_redox	68	109	8.5e-8	PFAM
Pfam:DAO	68	159	5.6e-8	PFAM
Pfam:NAD_binding_8	71	138	1.2e-15	PFAM
Pfam:Amino_oxidase	76	511	5.9e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149779

Predicted Effect

probably benign
Transcript: ENSMUST00000207085

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207103
AA Change: Q477P

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208626
AA Change: Q477P

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000208172

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,286,482 (GRCm39)	R6W	probably damaging	Het
Ahnak	T	A	19: 8,987,599 (GRCm39)	V2961E	possibly damaging	Het
Aldh1a7	A	T	19: 20,685,561 (GRCm39)	Y330N	possibly damaging	Het
Bag6	A	G	17: 35,365,298 (GRCm39)	Y1041C	probably damaging	Het
Baz1b	T	A	5: 135,250,812 (GRCm39)	V866E	probably benign	Het
Bmpr2	A	T	1: 59,906,560 (GRCm39)	Y551F	probably benign	Het
Cage1	A	G	13: 38,206,301 (GRCm39)		probably benign	Het
Caskin2	G	T	11: 115,692,589 (GRCm39)	P732Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,359,746 (GRCm39)		probably null	Het
Ccdc162	A	T	10: 41,531,500 (GRCm39)	M502K	possibly damaging	Het
Cfap157	T	C	2: 32,670,657 (GRCm39)	D197G	probably damaging	Het
CN725425	T	A	15: 91,129,847 (GRCm39)	S237T	probably benign	Het
Defb40	T	C	8: 19,025,095 (GRCm39)	H37R	probably benign	Het
Dis3l2	A	C	1: 86,977,360 (GRCm39)	S836R	possibly damaging	Het
Dnah14	T	C	1: 181,568,724 (GRCm39)	I2818T	possibly damaging	Het
Dpysl2	T	A	14: 67,102,621 (GRCm39)		probably null	Het
Dsc1	A	T	18: 20,219,886 (GRCm39)	C761*	probably null	Het
Dsg1b	A	T	18: 20,541,782 (GRCm39)	D763V	probably damaging	Het
Eif2ak1	C	T	5: 143,820,812 (GRCm39)	P251L	probably benign	Het
Epha6	A	T	16: 59,503,105 (GRCm39)	I934K	probably damaging	Het
Fbxo40	T	C	16: 36,790,744 (GRCm39)	E122G	probably damaging	Het
Filip1	C	T	9: 79,725,983 (GRCm39)	G879R	possibly damaging	Het
Frem2	A	T	3: 53,559,984 (GRCm39)	F1508I	probably damaging	Het
Gja1	A	G	10: 56,264,594 (GRCm39)	N318D	probably benign	Het
Gm11564	T	C	11: 99,705,867 (GRCm39)	S188G	unknown	Het
Hlcs	A	G	16: 94,063,491 (GRCm39)	V523A	probably benign	Het
Kif1a	C	A	1: 92,970,420 (GRCm39)	E1041D	probably damaging	Het
Lamtor1	A	G	7: 101,559,289 (GRCm39)	Y81C	possibly damaging	Het
Loxl1	A	G	9: 58,201,732 (GRCm39)	L453S	probably damaging	Het
Mcf2l	A	G	8: 13,043,937 (GRCm39)	M1V	probably null	Het
Megf6	A	G	4: 154,352,119 (GRCm39)	Q1208R	probably benign	Het
Morc2a	T	A	11: 3,633,781 (GRCm39)	I631N	probably benign	Het
Muc6	T	C	7: 141,226,360 (GRCm39)		probably benign	Het
Mybpc1	T	C	10: 88,406,428 (GRCm39)	S139G	possibly damaging	Het
Myo18a	T	C	11: 77,720,127 (GRCm39)	F1017L	probably benign	Het
P2ry13	T	A	3: 59,117,653 (GRCm39)	I42F	probably benign	Het
Ptprb	G	A	10: 116,175,392 (GRCm39)	R1129K	probably benign	Het
Rexo4	T	A	2: 26,854,197 (GRCm39)	K45I	probably damaging	Het
Rnf213	G	A	11: 119,327,121 (GRCm39)	V1703I	probably benign	Het
Sec23ip	C	A	7: 128,373,908 (GRCm39)	A710E	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc41a2	T	C	10: 83,149,362 (GRCm39)	T194A	probably benign	Het
Slc4a10	G	A	2: 62,080,816 (GRCm39)	A348T	probably damaging	Het
Soat2	G	A	15: 102,062,460 (GRCm39)		probably null	Het
Srms	T	C	2: 180,850,548 (GRCm39)	S204G	probably benign	Het
Szt2	G	A	4: 118,229,810 (GRCm39)	R2774C	unknown	Het
Tcf7l2	T	C	19: 55,896,973 (GRCm39)	V182A	probably damaging	Het
Tmem167b	C	T	3: 108,467,559 (GRCm39)	R29H	probably benign	Het
Trappc12	T	A	12: 28,796,863 (GRCm39)	D223V	probably damaging	Het
Ttc6	T	A	12: 57,664,397 (GRCm39)	S383R	possibly damaging	Het
Ubr1	C	T	2: 120,791,573 (GRCm39)	R137H	possibly damaging	Het
Vmn2r24	T	A	6: 123,792,597 (GRCm39)	C641*	probably null	Het
Vrk3	A	G	7: 44,409,298 (GRCm39)	D155G	probably damaging	Het
Xxylt1	T	C	16: 30,869,503 (GRCm39)	Y199C	probably damaging	Het
Zbtb46	A	T	2: 181,065,363 (GRCm39)	D262E	probably benign	Het
Zcchc9	A	T	13: 91,948,766 (GRCm39)	S58T	probably benign	Het
Zfp747l1	A	T	7: 126,984,085 (GRCm39)		probably benign	Het
Zfyve16	A	T	13: 92,631,563 (GRCm39)	L1344*	probably null	Het

Other mutations in Nup62

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1542:Nup62	UTSW	7	44,479,353 (GRCm39)	missense	possibly damaging	0.53
R1867:Nup62	UTSW	7	44,478,472 (GRCm39)	missense	possibly damaging	0.92
R1868:Nup62	UTSW	7	44,478,472 (GRCm39)	missense	possibly damaging	0.92
R2100:Nup62	UTSW	7	44,478,921 (GRCm39)	unclassified	probably benign
R4884:Nup62	UTSW	7	44,478,289 (GRCm39)	missense	probably damaging	0.99
R4977:Nup62	UTSW	7	44,478,449 (GRCm39)	missense	possibly damaging	0.92
R6052:Nup62	UTSW	7	44,478,464 (GRCm39)	missense	possibly damaging	0.93
R6895:Nup62	UTSW	7	44,479,157 (GRCm39)	missense	possibly damaging	0.71
R7757:Nup62	UTSW	7	44,478,419 (GRCm39)	missense	probably benign	0.00
R8322:Nup62	UTSW	7	44,478,440 (GRCm39)	missense	possibly damaging	0.92
X0026:Nup62	UTSW	7	44,478,398 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GAGCAAAGTGGCACCATATACC -3'
(R):5'- TGCCTTTGCAAAACACTTCTG -3'

Sequencing Primer
(F):5'- GTGGCACCATATACCTTCAGC -3'
(R):5'- TGCAAAACACTTCTGATAACAGGG -3'

Posted On

2016-12-15