Mutagenetix > Incidental Mutations

Incidental Mutation 'R1846:Nup85'

207746

Institutional Source

Beutler Lab

Gene Symbol

Nup85

Ensembl Gene

ENSMUSG00000020739

Gene Name

nucleoporin 85

Synonyms

frount, Pcnt1

MMRRC Submission

039871-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115564434-115583985 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115568413 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 114 (E114G)

Ref Sequence

ENSEMBL: ENSMUSP00000021085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021085] [ENSMUST00000144473]

Predicted Effect

probably benign
Transcript: ENSMUST00000021085
AA Change: E114G

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021085
Gene: ENSMUSG00000020739
AA Change: E114G

Domain	Start	End	E-Value	Type
Pfam:Nucleopor_Nup85	53	606	1.2e-181	PFAM
low complexity region	635	649	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135893

Predicted Effect

probably benign
Transcript: ENSMUST00000144473

SMART Domains

Protein: ENSMUSP00000116069
Gene: ENSMUSG00000020739

Domain	Start	End	E-Value	Type
Pfam:Nucleopor_Nup85	1	170	3e-56	PFAM
Pfam:Nucleopor_Nup85	168	274	1.1e-47	PFAM

Meta Mutation Damage Score

0.6144

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

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 protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	G	T	14: 49,235,963	L102I	probably damaging	Het
2900092C05Rik	G	A	7: 12,512,882	R63Q	probably benign	Het
Adamts20	A	T	15: 94,345,990	C619S	probably damaging	Het
Alx1	T	C	10: 103,025,304	D121G	possibly damaging	Het
Anks3	A	C	16: 4,953,884	M215R	probably benign	Het
Anxa4	T	A	6: 86,741,911		probably null	Het
Arhgef25	A	G	10: 127,185,864	V222A	probably damaging	Het
Bglap2	A	G	3: 88,378,625		probably benign	Het
Cars2	A	G	8: 11,514,674	V22A	probably benign	Het
Cenpe	T	A	3: 135,239,845	I1040N	probably damaging	Het
Cep170	C	T	1: 176,755,769	D1015N	probably damaging	Het
Chia1	T	A	3: 106,130,865	I359N	probably damaging	Het
Crot	A	T	5: 8,988,248	V93E	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dnmbp	T	C	19: 43,902,747	I194V	probably damaging	Het
Dock4	T	A	12: 40,733,268	C734S	probably benign	Het
Eif4e3	T	C	6: 99,640,701	S70G	probably benign	Het
Entpd3	G	A	9: 120,558,375	D213N	probably benign	Het
Ern2	T	G	7: 122,176,536	Y445S	probably benign	Het
Fasn	A	G	11: 120,813,307	S1429P	probably benign	Het
Fat4	A	G	3: 38,982,383	I3395V	probably benign	Het
Fbln2	C	A	6: 91,256,417	Q628K	possibly damaging	Het
Fbxo28	T	C	1: 182,326,280	N164D	probably benign	Het
Fez1	T	C	9: 36,867,767	S247P	probably damaging	Het
Gars	A	G	6: 55,063,168	D360G	probably benign	Het
Gcfc2	A	T	6: 81,956,892	Q710L	probably damaging	Het
Ggt5	A	G	10: 75,610,542		probably null	Het
Glp1r	A	G	17: 30,929,935		probably null	Het
Hspa14	T	C	2: 3,491,660	D356G	possibly damaging	Het
Htt	T	A	5: 34,848,944	I1399N	probably damaging	Het
Kmt2e	G	A	5: 23,499,486		probably benign	Het
Krt36	C	A	11: 100,105,548	G17C	probably damaging	Het
Lama2	T	C	10: 27,212,096	E895G	probably damaging	Het
Lamb2	G	A	9: 108,487,387	R1142H	probably benign	Het
Lhcgr	C	T	17: 88,765,147		probably null	Het
Lpin2	A	G	17: 71,225,069	T140A	probably benign	Het
Metap1	A	G	3: 138,480,682		probably benign	Het
Mpeg1	T	C	19: 12,463,122	V648A	probably benign	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Muc4	T	A	16: 32,752,369	I749N	probably benign	Het
N4bp2	T	C	5: 65,808,519	F1304L	probably damaging	Het
Olfr1258	A	G	2: 89,930,666	T286A	possibly damaging	Het
Olfr1415	A	T	1: 92,491,100	Y218*	probably null	Het
Olfr448	A	G	6: 42,897,320	S290G	probably damaging	Het
Pafah2	GCCCC	GCCCCC	4: 134,425,541		probably null	Het
Parp2	T	A	14: 50,815,386	C145*	probably null	Het
Plpp6	T	C	19: 28,964,280	S94P	probably benign	Het
Polr1a	T	C	6: 71,976,188	I1580T	probably damaging	Het
Polrmt	A	T	10: 79,738,209	V860E	probably damaging	Het
Ppp1r17	A	G	6: 56,022,427	E15G	possibly damaging	Het
Prl7b1	A	T	13: 27,602,848	W133R	probably damaging	Het
Ptk7	A	G	17: 46,576,490		probably null	Het
Rad23b	C	T	4: 55,383,637	Q290*	probably null	Het
Rorb	C	T	19: 18,955,081	E369K	probably damaging	Het
Rusc1	T	C	3: 89,092,145	D110G	probably damaging	Het
Smg7	A	G	1: 152,848,850	S527P	probably damaging	Het
Ssbp2	C	T	13: 91,664,149	P105L	probably damaging	Het
Stt3a	C	T	9: 36,763,385	R34H	probably damaging	Het
Sufu	T	A	19: 46,450,947	I202N	possibly damaging	Het
Thsd7b	G	A	1: 129,613,256	R289Q	probably damaging	Het
Tph1	A	T	7: 46,660,439	S130T	probably damaging	Het
Ttn	A	G	2: 76,945,686	S1671P	probably damaging	Het
Usp4	A	G	9: 108,372,736	I441V	probably benign	Het
Vmn1r8	A	G	6: 57,036,428	N155D	probably benign	Het
Vmn2r115	A	C	17: 23,359,383	K610T	probably damaging	Het
Vmn2r62	G	A	7: 42,789,122	P97S	probably damaging	Het
Zbtb40	T	C	4: 137,007,839	D297G	probably benign	Het
Zfp174	C	A	16: 3,854,735	Q383K	probably benign	Het
Zfp318	T	A	17: 46,413,666	D2198E	probably benign	Het
Zfp628	C	T	7: 4,920,867	P696L	possibly damaging	Het
Zgrf1	T	A	3: 127,615,463	N1695K	probably damaging	Het

Other mutations in Nup85

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00550:Nup85	APN	11	115581756	missense	probably damaging	1.00
IGL01538:Nup85	APN	11	115569714	missense	possibly damaging	0.81
IGL01775:Nup85	APN	11	115580767	missense	probably damaging	1.00
IGL02170:Nup85	APN	11	115577931	missense	probably damaging	0.97
IGL02456:Nup85	APN	11	115581865	unclassified	probably benign
IGL02888:Nup85	APN	11	115578800	missense	possibly damaging	0.89
IGL03210:Nup85	APN	11	115566636	missense	probably benign	0.11
PIT4403001:Nup85	UTSW	11	115581820	missense	probably damaging	0.98
R0195:Nup85	UTSW	11	115564531	start codon destroyed	probably null	1.00
R0394:Nup85	UTSW	11	115564531	start codon destroyed	probably null	1.00
R0639:Nup85	UTSW	11	115564531	start codon destroyed	probably null	1.00
R0883:Nup85	UTSW	11	115568370	nonsense	probably null
R1567:Nup85	UTSW	11	115568398	missense	possibly damaging	0.83
R1774:Nup85	UTSW	11	115582945	missense	probably benign	0.01
R1851:Nup85	UTSW	11	115581817	missense	probably damaging	1.00
R2084:Nup85	UTSW	11	115568691	missense	possibly damaging	0.71
R4766:Nup85	UTSW	11	115577925	splice site	probably null
R5748:Nup85	UTSW	11	115580512	missense	probably damaging	1.00
R6362:Nup85	UTSW	11	115583734	missense	probably damaging	0.98
R6906:Nup85	UTSW	11	115580943	missense	probably damaging	1.00
R6951:Nup85	UTSW	11	115582955	missense	possibly damaging	0.95
R7835:Nup85	UTSW	11	115570071	missense	probably benign	0.35
R8125:Nup85	UTSW	11	115578237	frame shift	probably null
R8151:Nup85	UTSW	11	115577933	missense	probably benign	0.06
R8415:Nup85	UTSW	11	115566642	missense	probably benign
R8517:Nup85	UTSW	11	115564564	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CATGAGTTTATATGTACTGGAGGCC -3'
(R):5'- TCTCCTAAGCCCTCAGAAGC -3'

Sequencing Primer
(F):5'- TGGAGGCCAGAGCACTCAG -3'
(R):5'- AGAAGCCCCATACGGTTTTTG -3'

Posted On

2014-06-23