Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02456:Nup85'

294191

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup85

Ensembl Gene

ENSMUSG00000020739

Gene Name

nucleoporin 85

Synonyms

frount, Pcnt1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

115564434-115583985 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 115581865 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019135] [ENSMUST00000021085] [ENSMUST00000106508] [ENSMUST00000140986] [ENSMUST00000144473] [ENSMUST00000156173]

Predicted Effect

probably benign
Transcript: ENSMUST00000019135

SMART Domains

Protein: ENSMUSP00000019135
Gene: ENSMUSG00000020740

Domain	Start	End	E-Value	Type
VHS	9	142	9.36e-55	SMART
low complexity region	174	185	N/A	INTRINSIC
Pfam:GAT	222	299	1.7e-20	PFAM
low complexity region	334	369	N/A	INTRINSIC
low complexity region	383	395	N/A	INTRINSIC
low complexity region	455	471	N/A	INTRINSIC
low complexity region	483	498	N/A	INTRINSIC
low complexity region	532	554	N/A	INTRINSIC
Alpha_adaptinC2	586	710	6.09e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021085

SMART Domains

Protein: ENSMUSP00000021085
Gene: ENSMUSG00000020739

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

probably benign
Transcript: ENSMUST00000106508

SMART Domains

Protein: ENSMUSP00000102117
Gene: ENSMUSG00000020740

Domain	Start	End	E-Value	Type
VHS	9	142	9.36e-55	SMART
low complexity region	174	185	N/A	INTRINSIC
Pfam:GAT	206	307	1.3e-32	PFAM
low complexity region	377	393	N/A	INTRINSIC
low complexity region	405	420	N/A	INTRINSIC
low complexity region	454	476	N/A	INTRINSIC
Alpha_adaptinC2	508	632	6.09e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138998

Predicted Effect

probably benign
Transcript: ENSMUST00000140986

SMART Domains

Protein: ENSMUSP00000117333
Gene: ENSMUSG00000020739

Domain	Start	End	E-Value	Type
Pfam:Nucleopor_Nup85	21	280	5.9e-107	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154832

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156173

SMART Domains

Protein: ENSMUSP00000138597
Gene: ENSMUSG00000020740

Domain	Start	End	E-Value	Type
VHS	9	142	9.36e-55	SMART
low complexity region	174	185	N/A	INTRINSIC
Pfam:GAT	206	307	7.3e-32	PFAM
low complexity region	334	369	N/A	INTRINSIC
low complexity region	383	395	N/A	INTRINSIC
low complexity region	455	471	N/A	INTRINSIC
low complexity region	483	498	N/A	INTRINSIC
low complexity region	532	554	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,261,124	L458Q	probably damaging	Het
4921511C20Rik	T	A	X: 127,394,961	Y174*	probably null	Het
Apc	C	A	18: 34,313,882	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,330,390	F79I	probably damaging	Het
Brip1	G	T	11: 86,065,099	L863I	possibly damaging	Het
Cbx4	T	A	11: 119,082,112	K146*	probably null	Het
Ccdc36	G	T	9: 108,406,621	T208K	probably benign	Het
Ces1a	C	T	8: 93,039,498	V163I	possibly damaging	Het
Ces5a	C	T	8: 93,528,644		probably benign	Het
Cfhr1	A	C	1: 139,556,393	N128K	possibly damaging	Het
Clcn3	T	C	8: 60,941,357	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,178,129	I166S	probably benign	Het
Cntnap3	A	T	13: 64,799,058		probably benign	Het
Cntnap5c	T	A	17: 58,407,744		probably benign	Het
Ddx23	A	T	15: 98,647,549	V626E	probably damaging	Het
Gcm2	T	C	13: 41,103,001	Y424C	probably benign	Het
Gm9964	A	G	11: 79,296,370	F84L	probably damaging	Het
Grn	T	A	11: 102,436,104	D509E	probably benign	Het
Kdm5c	G	A	X: 152,246,318	D343N	probably damaging	Het
Ly75	C	T	2: 60,293,781	M1717I	probably benign	Het
Map1a	C	A	2: 121,298,653	P133T	probably damaging	Het
Mpp2	C	A	11: 102,059,373	A552S	possibly damaging	Het
Mtr	T	C	13: 12,199,094	I897M	probably damaging	Het
Npas3	A	T	12: 54,048,767	I337F	probably damaging	Het
Olfr118	T	A	17: 37,672,449	M142K	possibly damaging	Het
Olfr325	T	A	11: 58,581,198	L118H	possibly damaging	Het
Olfr517	A	G	7: 108,869,050	Y35H	probably benign	Het
Olfr630	T	A	7: 103,755,493	I31F	possibly damaging	Het
Olfr683	T	C	7: 105,143,759	N178S	probably damaging	Het
Pdia4	A	T	6: 47,803,495	D301E	probably benign	Het
Phf2	C	A	13: 48,828,846	G134C	unknown	Het
Polr2h	T	A	16: 20,720,602	L76H	probably damaging	Het
Rbm47	G	A	5: 66,027,021	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,785,880	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,616,834		probably benign	Het
Tacc2	T	C	7: 130,626,261	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,210,546	H46P	probably damaging	Het
Tbck	A	G	3: 132,734,714		probably benign	Het
Tmtc4	A	T	14: 122,925,962		probably null	Het
Ttc13	T	C	8: 124,690,361		probably null	Het
Ttc17	T	C	2: 94,362,785		probably benign	Het
Vmn1r121	T	A	7: 21,098,513	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,952,976	S2825P	probably damaging	Het
Zan	A	C	5: 137,446,844	S1718A	unknown	Het
Zfp39	G	T	11: 58,902,800	Y37*	probably null	Het
Zfp407	T	C	18: 84,558,641	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,823,639	D801E	possibly 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
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
R1846:Nup85	UTSW	11	115568413	missense	probably benign	0.11
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

Posted On

2015-04-16