Mutagenetix > Incidental Mutation

Incidental Mutation 'R4884:Nup62'

375537

Institutional Source

Beutler Lab

Gene Symbol

Nup62

Ensembl Gene

ENSMUSG00000109511

Gene Name

nucleoporin 62

Synonyms

D7Ertd649e, p62, Nupc1

MMRRC Submission

041978-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44465512-44480236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44478289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 101 (S101R)

Ref Sequence

ENSEMBL: ENSMUSP00000147109 (fasta)

Gene Model

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

AlphaFold

Q63850

Predicted Effect

probably damaging
Transcript: ENSMUST00000057195
AA Change: S101R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056785
Gene: ENSMUSG00000109511
AA Change: S101R

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

probably damaging
Transcript: ENSMUST00000107891
AA Change: S101R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103523
Gene: ENSMUSG00000043858
AA Change: S101R

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

probably damaging
Transcript: ENSMUST00000207103
AA Change: S101R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208172
AA Change: S101R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208626
AA Change: S101R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

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. 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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Aadat	C	T	8: 60,979,663 (GRCm39)	P175L	probably damaging	Het
Acot7	G	T	4: 152,270,664 (GRCm39)		probably benign	Het
Adad1	T	G	3: 37,130,813 (GRCm39)	F259V	possibly damaging	Het
Adora2a	A	G	10: 75,161,879 (GRCm39)	Y6C	probably null	Het
Ahnak	A	G	19: 8,990,118 (GRCm39)		probably benign	Het
Ankar	A	T	1: 72,737,966 (GRCm39)	M72K	probably damaging	Het
Ankrd45	A	G	1: 160,988,270 (GRCm39)	K176R	possibly damaging	Het
Ap3m2	T	C	8: 23,293,997 (GRCm39)	K18E	probably damaging	Het
Apol10b	C	T	15: 77,473,006 (GRCm39)	R16Q	possibly damaging	Het
Atp2b2	T	A	6: 113,819,147 (GRCm39)	T49S	possibly damaging	Het
B3gntl1	T	G	11: 121,520,795 (GRCm39)	Y206S	possibly damaging	Het
BC061237	G	A	14: 44,738,666 (GRCm39)	E22K	possibly damaging	Het
Bmp1	A	G	14: 70,712,655 (GRCm39)	V959A	probably benign	Het
Cep295	T	C	9: 15,263,056 (GRCm39)	E169G	probably damaging	Het
Cfap20dc	G	A	14: 8,578,394 (GRCm38)	T116I	probably damaging	Het
Cfap65	T	G	1: 74,942,283 (GRCm39)	E1757A	possibly damaging	Het
Cgrrf1	T	A	14: 47,090,912 (GRCm39)	I216N	possibly damaging	Het
Clstn2	T	A	9: 97,681,448 (GRCm39)	D64V	probably damaging	Het
Col27a1	T	A	4: 63,194,197 (GRCm39)	D851E	possibly damaging	Het
Coq9	C	T	8: 95,579,822 (GRCm39)	P259L	probably benign	Het
Cps1	A	G	1: 67,216,183 (GRCm39)	N836S	probably benign	Het
Cracd	A	T	5: 76,996,682 (GRCm39)	I47F	probably damaging	Het
Crebbp	T	C	16: 3,906,239 (GRCm39)	K1588E	probably damaging	Het
Cspg4	T	C	9: 56,805,353 (GRCm39)	W2055R	probably benign	Het
Cyp3a44	A	T	5: 145,714,792 (GRCm39)	M453K	probably damaging	Het
Dhx36	T	G	3: 62,391,681 (GRCm39)	D555A	probably damaging	Het
Dock2	A	T	11: 34,216,248 (GRCm39)	Y1219N	probably damaging	Het
Dpy19l2	A	T	9: 24,539,476 (GRCm39)	C492*	probably null	Het
Dusp22	A	G	13: 30,852,813 (GRCm39)	N16S	probably benign	Het
Epha1	A	G	6: 42,337,668 (GRCm39)	M805T	probably damaging	Het
Espl1	C	T	15: 102,232,505 (GRCm39)	A2071V	possibly damaging	Het
Fbxo11	T	A	17: 88,299,761 (GRCm39)	D863V	probably damaging	Het
Fbxo7	T	A	10: 85,865,014 (GRCm39)	Y106N	probably damaging	Het
Fhip1a	A	C	3: 85,590,918 (GRCm39)	C178G	probably damaging	Het
Fst	A	G	13: 114,590,920 (GRCm39)	V282A	probably damaging	Het
Gfra3	T	A	18: 34,844,304 (GRCm39)	M79L	probably benign	Het
Glp1r	T	C	17: 31,155,240 (GRCm39)	V409A	probably damaging	Het
Gm10799	T	A	2: 103,898,552 (GRCm39)	D51V	probably damaging	Het
Gm572	C	A	4: 148,751,819 (GRCm39)	T228N	possibly damaging	Het
Grip1	C	T	10: 119,911,211 (GRCm39)	T643M	probably damaging	Het
Hdgfl2	C	T	17: 56,403,265 (GRCm39)	R222C	possibly damaging	Het
Hecw2	T	A	1: 53,990,000 (GRCm39)	I125F	probably benign	Het
Hipk1	A	G	3: 103,651,338 (GRCm39)	S1153P	possibly damaging	Het
Insm2	T	C	12: 55,646,546 (GRCm39)	S97P	probably damaging	Het
Iqca1	A	G	1: 90,067,759 (GRCm39)	V164A	probably benign	Het
Kcna6	T	C	6: 126,715,689 (GRCm39)	D400G	probably benign	Het
Kctd1	T	C	18: 15,107,311 (GRCm39)	Y122C	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klra2	T	C	6: 131,207,165 (GRCm39)	Y148C	probably damaging	Het
Krtap31-1	G	A	11: 99,799,310 (GRCm39)	C171Y	unknown	Het
Ldlrap1	C	T	4: 134,486,282 (GRCm39)	R59Q	probably benign	Het
Ltb	T	C	17: 35,414,234 (GRCm39)	I3T	probably benign	Het
Macf1	T	C	4: 123,348,802 (GRCm39)	I2477V	probably benign	Het
Mpdz	A	T	4: 81,279,713 (GRCm39)	I39N	probably damaging	Het
Mtcl3	A	T	10: 29,072,537 (GRCm39)	N610Y	probably damaging	Het
Mycbp2	A	G	14: 103,448,731 (GRCm39)	I1776T	probably damaging	Het
Myof	T	A	19: 37,930,805 (GRCm39)	E994V	probably damaging	Het
Myom3	A	G	4: 135,510,366 (GRCm39)	E553G	possibly damaging	Het
Mysm1	A	T	4: 94,847,185 (GRCm39)	C504S	probably damaging	Het
Nectin3	A	T	16: 46,269,249 (GRCm39)	H384Q	probably benign	Het
Net1	G	A	13: 3,934,252 (GRCm39)	R482*	probably null	Het
Nit1	T	C	1: 171,171,263 (GRCm39)	K193R	probably null	Het
Nlgn1	A	G	3: 25,966,838 (GRCm39)	V205A	probably damaging	Het
Nr3c2	A	T	8: 77,635,438 (GRCm39)	I180F	possibly damaging	Het
Nup50l	A	T	6: 96,141,793 (GRCm39)	M417K	probably damaging	Het
Or13c7	T	C	4: 43,854,890 (GRCm39)	S194P	probably damaging	Het
Or1l8	G	T	2: 36,818,024 (GRCm39)	T34K	possibly damaging	Het
Or4c3	A	G	2: 89,851,987 (GRCm39)	V141A	probably benign	Het
Or51b17	T	A	7: 103,542,862 (GRCm39)	I27F	probably benign	Het
Or56b2j	T	A	7: 104,353,068 (GRCm39)	I98N	probably damaging	Het
Or5b111	A	T	19: 13,291,034 (GRCm39)	I205N	probably benign	Het
Or5b124	A	T	19: 13,611,391 (GRCm39)	K305N	probably benign	Het
Or5p80	A	T	7: 108,229,819 (GRCm39)	I207F	probably damaging	Het
Osbpl6	A	T	2: 76,379,883 (GRCm39)	I158F	probably damaging	Het
Pcbp4	A	G	9: 106,339,301 (GRCm39)	T103A	probably benign	Het
Pcdha2	T	A	18: 37,073,953 (GRCm39)	L528Q	probably damaging	Het
Pcdhga5	T	C	18: 37,827,680 (GRCm39)	S43P	probably damaging	Het
Pdgfra	C	A	5: 75,349,973 (GRCm39)	N952K	probably benign	Het
Pla2r1	A	G	2: 60,365,328 (GRCm39)	S81P	probably damaging	Het
Rabggtb	A	T	3: 153,617,568 (GRCm39)	D43E	possibly damaging	Het
Rexo5	T	A	7: 119,424,774 (GRCm39)	C43*	probably null	Het
Robo1	T	A	16: 72,701,639 (GRCm39)	D168E	probably damaging	Het
Saxo4	A	T	19: 10,451,865 (GRCm39)	*428R	probably null	Het
Scimp	A	G	11: 70,688,865 (GRCm39)	M49T	unknown	Het
Sema3e	T	A	5: 14,275,579 (GRCm39)	V228E	probably damaging	Het
Sema6d	A	G	2: 124,498,738 (GRCm39)		probably null	Het
Serpinb6d	A	T	13: 33,850,428 (GRCm39)	D85V	possibly damaging	Het
Slc24a2	C	T	4: 86,909,745 (GRCm39)	V658I	probably damaging	Het
Snd1	T	C	6: 28,526,911 (GRCm39)	I198T	possibly damaging	Het
Snx33	C	T	9: 56,833,464 (GRCm39)	V202M	probably damaging	Het
Srcap	A	G	7: 127,121,189 (GRCm39)	E174G	probably damaging	Het
Srgap2	C	A	1: 131,220,314 (GRCm39)		probably null	Het
Stxbp5	A	T	10: 9,688,085 (GRCm39)	Y405*	probably null	Het
Thsd4	C	T	9: 59,895,320 (GRCm39)	R710H	probably benign	Het
Trp53inp1	T	A	4: 11,165,130 (GRCm39)	D51E	probably benign	Het
Ttc41	A	G	10: 86,566,882 (GRCm39)	D516G	probably benign	Het
Tut7	A	T	13: 59,937,266 (GRCm39)	L775H	probably damaging	Het
Uap1l1	A	G	2: 25,252,840 (GRCm39)	V400A	probably damaging	Het
Vit	T	C	17: 78,932,182 (GRCm39)	S430P	probably damaging	Het
Vmn1r9	T	A	6: 57,048,294 (GRCm39)	M123K	possibly damaging	Het
Vmn2r14	A	T	5: 109,369,384 (GRCm39)		probably null	Het
Vwa3a	A	G	7: 120,390,924 (GRCm39)	T746A	probably benign	Het
Wdfy4	G	T	14: 32,710,852 (GRCm39)	Y2578*	probably null	Het
Wdr53	A	T	16: 32,075,796 (GRCm39)	K334*	probably null	Het
Xpot	G	T	10: 121,442,713 (GRCm39)	H495Q	probably damaging	Het
Zfp109	T	C	7: 23,928,570 (GRCm39)	T288A	probably benign	Het
Zfp277	T	A	12: 40,413,152 (GRCm39)	E276V	probably damaging	Het
Zfp703	A	G	8: 27,468,729 (GRCm39)	D131G	probably benign	Het
Zfp985	T	A	4: 147,667,801 (GRCm39)	I223N	probably benign	Het
Zrsr2-ps1	T	C	11: 22,923,805 (GRCm39)	V193A	possibly damaging	Het
Zscan20	A	G	4: 128,481,958 (GRCm39)	I568T	possibly damaging	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
R4977:Nup62	UTSW	7	44,478,449 (GRCm39)	missense	possibly damaging	0.92
R5808:Nup62	UTSW	7	44,479,416 (GRCm39)	missense	possibly damaging	0.53
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'- TTACATTTGGGACCGCAAAGAC -3'
(R):5'- AATGAGAACCCAGTGGAGCC -3'

Sequencing Primer
(F):5'- TGCGACCACCACACCTG -3'
(R):5'- CAGTGGAGCCGGTGGAC -3'

Posted On

2016-03-17