Mutagenetix > Incidental Mutation

Incidental Mutation 'R6374:Nup35'

513664

Institutional Source

Beutler Lab

Gene Symbol

Nup35

Ensembl Gene

ENSMUSG00000026999

Gene Name

nucleoporin 35

Synonyms

2310006I24Rik, 5330402E05Rik

MMRRC Submission

044524-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6374 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80469156-80490415 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80488730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 322 (M322I)

Ref Sequence

ENSEMBL: ENSMUSP00000028382 (fasta)

Gene Model

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

AlphaFold

Q8R4R6

PDB Structure

Crystal structure of the MPPN domain of mouse Nup35 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000028382
AA Change: M322I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000028382
Gene: ENSMUSG00000026999
AA Change: M322I

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 benign
Transcript: ENSMUST00000124377

SMART Domains

Protein: ENSMUSP00000122132
Gene: ENSMUSG00000026999

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135305

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

Validation Efficiency

99% (75/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,314,800 (GRCm39)	S293A	possibly damaging	Het
5430401F13Rik	A	T	6: 131,529,892 (GRCm39)	Q162L	unknown	Het
Abca8a	A	T	11: 109,974,216 (GRCm39)	Y239*	probably null	Het
Aox3	T	C	1: 58,211,320 (GRCm39)	I959T	probably benign	Het
Atad2b	T	C	12: 5,068,002 (GRCm39)	V1000A	probably damaging	Het
Atic	C	T	1: 71,604,100 (GRCm39)	T221M	probably damaging	Het
Atp1a2	C	T	1: 172,116,942 (GRCm39)	R225H	probably damaging	Het
BC024139	A	G	15: 76,004,657 (GRCm39)		probably null	Het
Bpi	A	T	2: 158,113,974 (GRCm39)	T291S	probably damaging	Het
Ccdc170	C	T	10: 4,499,746 (GRCm39)	Q556*	probably null	Het
Cd3e	G	A	9: 44,920,661 (GRCm39)	L12F	probably benign	Het
Cdc42ep1	A	T	15: 78,731,649 (GRCm39)	R31S	probably damaging	Het
Cyp21a1	G	T	17: 35,023,110 (GRCm39)		probably null	Het
Dnase1l3	A	G	14: 7,974,115 (GRCm38)	M192T	probably damaging	Het
Dnmt1	A	T	9: 20,835,341 (GRCm39)	H330Q	possibly damaging	Het
Enah	T	C	1: 181,751,145 (GRCm39)	E232G	unknown	Het
Etnppl	C	T	3: 130,414,342 (GRCm39)	T73I	probably damaging	Het
Fam83b	T	A	9: 76,400,189 (GRCm39)	I305F	probably benign	Het
Galnt15	T	A	14: 31,780,116 (GRCm39)	I471N	probably damaging	Het
Gm19965	T	A	1: 116,750,021 (GRCm39)	N567K	probably benign	Het
Golga1	T	C	2: 38,924,080 (GRCm39)	Q435R	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Hao1	T	G	2: 134,365,024 (GRCm39)	D201A	probably benign	Het
Heg1	T	C	16: 33,547,499 (GRCm39)	L786P	possibly damaging	Het
Hnrnpll	A	T	17: 80,357,303 (GRCm39)	C238S	possibly damaging	Het
Hrg	A	G	16: 22,779,742 (GRCm39)	Y340C	probably damaging	Het
Kyat3	A	T	3: 142,443,998 (GRCm39)	I411F	probably damaging	Het
Myo1a	T	C	10: 127,543,549 (GRCm39)	Y202H	probably damaging	Het
Nags	T	C	11: 102,037,337 (GRCm39)	C143R	possibly damaging	Het
Ncoa6	T	C	2: 155,263,076 (GRCm39)	N453D	probably damaging	Het
Oprl1	T	C	2: 181,357,721 (GRCm39)	V69A	probably damaging	Het
Or51v14	A	G	7: 103,261,128 (GRCm39)	L144P	probably benign	Het
Pappa2	T	A	1: 158,784,215 (GRCm39)	Y265F	probably damaging	Het
Pcsk6	C	T	7: 65,629,903 (GRCm39)	P343L	possibly damaging	Het
Peak1	C	A	9: 56,164,950 (GRCm39)	D993Y	probably damaging	Het
Polr2a	T	C	11: 69,627,758 (GRCm39)	Y1383C	probably damaging	Het
Ppme1	A	G	7: 99,990,272 (GRCm39)	S226P	probably damaging	Het
Prom1	C	T	5: 44,213,325 (GRCm39)	C127Y	probably damaging	Het
Ptpn6	A	T	6: 124,709,532 (GRCm39)		probably null	Het
Reln	T	C	5: 22,285,712 (GRCm39)	E419G	probably benign	Het
Rnf32	C	T	5: 29,430,266 (GRCm39)	Q362*	probably null	Het
Sbspon	T	C	1: 15,953,887 (GRCm39)	D131G	probably benign	Het
Scyl3	T	C	1: 163,776,783 (GRCm39)	S392P	probably benign	Het
Shtn1	T	A	19: 59,026,728 (GRCm39)	D121V	possibly damaging	Het
Sin3a	A	G	9: 57,024,765 (GRCm39)	T1042A	probably benign	Het
Sipa1l2	A	T	8: 126,171,369 (GRCm39)	V1371D	probably damaging	Het
Slc20a2	T	C	8: 23,055,668 (GRCm39)	V584A	possibly damaging	Het
Smc6	T	A	12: 11,355,874 (GRCm39)		probably null	Het
Spata31h1	T	A	10: 82,124,731 (GRCm39)		probably benign	Het
Specc1	C	T	11: 62,047,418 (GRCm39)	T849I	possibly damaging	Het
Spta1	T	A	1: 174,041,734 (GRCm39)	L1368H	probably damaging	Het
Sqle	A	G	15: 59,187,959 (GRCm39)	E89G	possibly damaging	Het
Strbp	A	G	2: 37,493,020 (GRCm39)	V422A	probably damaging	Het
Sult6b1	G	T	17: 79,214,360 (GRCm39)	T21K	probably benign	Het
Tex15	A	G	8: 34,065,940 (GRCm39)	E1790G	probably damaging	Het
Tmem88b	T	A	4: 155,870,221 (GRCm39)		probably benign	Het
Traf3ip3	T	C	1: 192,864,318 (GRCm39)	D355G	possibly damaging	Het
Trim24	T	A	6: 37,930,484 (GRCm39)	V576E	probably benign	Het
Trim30c	C	T	7: 104,039,609 (GRCm39)	G62D	probably benign	Het
Trim66	T	G	7: 109,085,269 (GRCm39)	K100N	probably benign	Het
Tsnaxip1	A	T	8: 106,568,172 (GRCm39)	T313S	possibly damaging	Het
Ugt2b37	A	T	5: 87,390,279 (GRCm39)	I389N	probably damaging	Het
Unc13a	C	T	8: 72,094,097 (GRCm39)	V1335M	possibly damaging	Het
Urah	A	G	7: 140,415,124 (GRCm39)	T5A	probably benign	Het
Usp34	T	C	11: 23,388,914 (GRCm39)	Y2185H	probably damaging	Het
Usp44	T	C	10: 93,692,172 (GRCm39)	S643P	probably benign	Het
Vars2	A	G	17: 35,970,937 (GRCm39)	V631A	probably damaging	Het
Vmn2r11	G	A	5: 109,201,679 (GRCm39)	T275I	possibly damaging	Het
Vmn2r54	C	A	7: 12,349,420 (GRCm39)	V721F	probably damaging	Het
Vmn2r79	T	C	7: 86,651,498 (GRCm39)	I299T	probably benign	Het
Vps13d	T	C	4: 144,849,251 (GRCm39)	T2387A	probably damaging	Het
Washc5	A	T	15: 59,209,044 (GRCm39)	L610Q	probably benign	Het
Zbtb21	T	C	16: 97,751,568 (GRCm39)	E905G	probably damaging	Het
Zfhx4	A	G	3: 5,309,095 (GRCm39)	T774A	probably damaging	Het
Zfp534	T	C	4: 147,759,299 (GRCm39)	I457V	probably benign	Het
Zfp964	T	C	8: 70,111,994 (GRCm39)	Y29H	possibly damaging	Het
Znrf4	A	G	17: 56,818,702 (GRCm39)	F202L	probably damaging	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
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
R8077:Nup35	UTSW	2	80,469,280 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CCATTGTAGTCTCCTGAAATTTGG -3'
(R):5'- AGTGCAAGCTACAGATGGGC -3'

Sequencing Primer
(F):5'- TCCTGAAATTTGGAGATCATTACAG -3'
(R):5'- GGGCTGTTTCCTTAACCAAAG -3'

Posted On

2018-04-27