Mutagenetix > Incidental Mutation

Incidental Mutation 'R8077:Nup35'

643163

Institutional Source

Beutler Lab

Gene Symbol

Nup35

Ensembl Gene

ENSMUSG00000026999

Gene Name

nucleoporin 35

Synonyms

2310006I24Rik, 5330402E05Rik

MMRRC Submission

067511-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80469156-80490415 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 80469280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028382] [ENSMUST00000124377]

AlphaFold

Q8R4R6

Predicted Effect

probably null
Transcript: ENSMUST00000028382

SMART Domains

Protein: ENSMUSP00000028382
Gene: ENSMUSG00000026999

Domain	Start	End	E-Value	Type
Pfam:Nup35_RRM	166	251	8.2e-30	PFAM
Pfam:Nup35_RRM_2	172	224	9.5e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000124377

SMART Domains

Protein: ENSMUSP00000122132
Gene: ENSMUSG00000026999

Domain	Start	End	E-Value	Type
PDB:4LIR\|B	150	179	3e-14	PDB

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.4%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous knockout through a point mutation in a critical functional domain leads to early death as a result of megacolon caused by colon myopathy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,237 (GRCm39)	V132E	probably benign	Het
4930563M21Rik	C	T	9: 55,895,250 (GRCm39)	V315M	probably damaging	Het
Aadacl4fm1	T	C	4: 144,255,126 (GRCm39)	I182T	probably benign	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Amotl1	A	T	9: 14,461,798 (GRCm39)	V805D	probably damaging	Het
Arhgef3	T	C	14: 27,107,881 (GRCm39)	L179P	probably damaging	Het
Atp8b3	G	A	10: 80,366,858 (GRCm39)	L247F	possibly damaging	Het
Ccdc191	T	C	16: 43,735,968 (GRCm39)		probably null	Het
Celsr3	A	G	9: 108,705,530 (GRCm39)	H671R	probably benign	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Cfap97	G	T	8: 46,623,482 (GRCm39)	V291F	possibly damaging	Het
Clca3a2	A	G	3: 144,777,288 (GRCm39)	V861A	possibly damaging	Het
Cln8	A	T	8: 14,944,950 (GRCm39)	D88V	probably damaging	Het
Col18a1	C	A	10: 76,916,685 (GRCm39)	G330V	unknown	Het
Dis3	C	T	14: 99,327,471 (GRCm39)	R344Q	probably benign	Het
Esyt2	T	A	12: 116,305,848 (GRCm39)	S359R	possibly damaging	Het
Fbxo41	A	T	6: 85,450,211 (GRCm39)	L844Q	probably damaging	Het
Fn1	G	A	1: 71,651,761 (GRCm39)	T1372M	probably damaging	Het
Gbp5	G	A	3: 142,213,500 (GRCm39)	R472H	probably benign	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gm9507	T	A	10: 77,647,604 (GRCm39)	E25V	unknown	Het
Golgb1	A	G	16: 36,738,995 (GRCm39)	I2486V	probably damaging	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Ift80	A	G	3: 68,823,478 (GRCm39)	Y595H	probably benign	Het
Itga8	C	T	2: 12,247,244 (GRCm39)	V326I	probably benign	Het
Kif14	A	T	1: 136,399,186 (GRCm39)	H449L	possibly damaging	Het
Klrh1	A	G	6: 129,743,658 (GRCm39)	Y209H	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lrrc8b	C	A	5: 105,627,883 (GRCm39)	S76R	possibly damaging	Het
Lrrn1	T	C	6: 107,545,783 (GRCm39)	L527P	probably damaging	Het
Luc7l	T	C	17: 26,474,047 (GRCm39)	V35A	probably damaging	Het
Luzp1	T	G	4: 136,270,402 (GRCm39)	V875G	probably damaging	Het
Mcf2l	G	T	8: 13,048,494 (GRCm39)		probably null	Het
Mcoln2	T	C	3: 145,896,169 (GRCm39)	M497T	probably damaging	Het
Mrgprb4	A	T	7: 47,848,203 (GRCm39)	S242T	probably benign	Het
Muc21	TCAGTGGTGGTCAGGATGGGGGTAGAGCCTGAGCCACTCCTGGATGCAGTGGTGGTCAGG	TCAGTGGTGGTCAGG	17: 35,930,628 (GRCm39)		probably benign	Het
Nipbl	T	A	15: 8,340,734 (GRCm39)	R1995S	possibly damaging	Het
Or13a17	C	T	7: 140,271,046 (GRCm39)	S76F	probably benign	Het
Or2o1	A	G	11: 49,051,312 (GRCm39)	D157G	probably damaging	Het
Or6k2	A	G	1: 173,979,411 (GRCm39)		probably benign	Het
Prdm12	A	G	2: 31,532,316 (GRCm39)	K109E	probably damaging	Het
Ptch1	A	T	13: 63,688,626 (GRCm39)	L444Q	probably damaging	Het
Qtrt1	C	T	9: 21,331,392 (GRCm39)	R374*	probably null	Het
Rnase11	T	C	14: 51,287,398 (GRCm39)	D52G	probably damaging	Het
Rps6	A	G	4: 86,774,158 (GRCm39)	S148P	probably benign	Het
Rrm2b	T	C	15: 37,947,044 (GRCm39)	K86E	possibly damaging	Het
Sh2d1b2	A	G	1: 170,075,742 (GRCm39)	K59E	possibly damaging	Het
Six6	T	A	12: 72,987,100 (GRCm39)	W91R	probably damaging	Het
Slc23a2	C	A	2: 131,931,092 (GRCm39)	A136S	possibly damaging	Het
Slc9a5	G	A	8: 106,086,012 (GRCm39)	R593H	probably damaging	Het
Smbd1	T	C	16: 32,630,804 (GRCm39)	M1V	probably null	Het
Ssbp4	T	C	8: 71,051,647 (GRCm39)	Y239C	probably damaging	Het
Stox1	T	C	10: 62,501,345 (GRCm39)	E405G	probably damaging	Het
Tle7	C	T	8: 110,836,735 (GRCm39)	T207M	probably damaging	Het
Tmem192	A	G	8: 65,418,196 (GRCm39)	I194V	probably benign	Het
Tns3	A	T	11: 8,395,667 (GRCm39)	C1246S	probably damaging	Het
Ugt1a6a	A	T	1: 88,066,575 (GRCm39)	Q127L	probably benign	Het
Ush2a	A	G	1: 188,275,025 (GRCm39)	I1833V	probably benign	Het
Vmn2r66	A	T	7: 84,656,093 (GRCm39)	Y308N	probably benign	Het
Vti1a	T	G	19: 55,564,917 (GRCm39)	L191R	probably benign	Het
Zbtb38	A	T	9: 96,570,153 (GRCm39)	N310K	probably benign	Het

Other mutations in Nup35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00645:Nup35	APN	2	80,485,176 (GRCm39)	missense	probably damaging	1.00
IGL02039:Nup35	APN	2	80,473,119 (GRCm39)	missense	probably benign	0.04
IGL02538:Nup35	APN	2	80,474,563 (GRCm39)	missense	possibly damaging	0.83
IGL03167:Nup35	APN	2	80,488,660 (GRCm39)	unclassified	probably benign
R0540:Nup35	UTSW	2	80,472,984 (GRCm39)	missense	probably benign	0.11
R0607:Nup35	UTSW	2	80,472,984 (GRCm39)	missense	probably benign	0.11
R4029:Nup35	UTSW	2	80,483,318 (GRCm39)	missense	probably benign	0.04
R4050:Nup35	UTSW	2	80,486,320 (GRCm39)	missense	probably benign	0.30
R4130:Nup35	UTSW	2	80,486,443 (GRCm39)	unclassified	probably benign
R4131:Nup35	UTSW	2	80,486,443 (GRCm39)	unclassified	probably benign
R4477:Nup35	UTSW	2	80,487,487 (GRCm39)	unclassified	probably benign
R6374:Nup35	UTSW	2	80,488,730 (GRCm39)	missense	probably benign	0.00
R7191:Nup35	UTSW	2	80,488,723 (GRCm39)	missense	probably damaging	1.00
R7723:Nup35	UTSW	2	80,486,375 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ACATGGTAAAGAAGGTTGCCC -3'
(R):5'- ATCCTCGTGCATGCTTTCGG -3'

Sequencing Primer
(F):5'- GAAGGTTGCCCTCTTCCAAAATGG -3'
(R):5'- CGTGCATGCTTTCGGGGTAC -3'

Posted On

2020-08-07