Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02170:Nup85'

282871

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nup85

Ensembl Gene

ENSMUSG00000020739

Gene Name

nucleoporin 85

Synonyms

Pcnt1, frount

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02170

Quality Score

Status

Chromosome

Chromosomal Location

115455264-115474750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115468757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 200 (V200E)

Ref Sequence

ENSEMBL: ENSMUSP00000021085 (fasta)

Gene Model

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

AlphaFold

Q8R480

Predicted Effect

probably damaging
Transcript: ENSMUST00000021085
AA Change: V200E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021085
Gene: ENSMUSG00000020739
AA Change: V200E

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: ENSMUST00000127126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128745

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

possibly damaging
Transcript: ENSMUST00000144473
AA Change: V3E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116069
Gene: ENSMUSG00000020739
AA Change: V3E

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 16,936,196 (GRCm39)	P176L	probably damaging	Het
4932414N04Rik	A	G	2: 68,561,467 (GRCm39)	M265V	probably benign	Het
A2ml1	T	C	6: 128,524,173 (GRCm39)	E1153G	possibly damaging	Het
Adam22	T	C	5: 8,184,845 (GRCm39)	T452A	probably benign	Het
Ambra1	A	G	2: 91,597,432 (GRCm39)	T56A	possibly damaging	Het
Atp1a4	A	G	1: 172,062,103 (GRCm39)	V674A	possibly damaging	Het
Ccnb1	A	T	13: 100,919,994 (GRCm39)	Y172*	probably null	Het
Chrdl2	A	T	7: 99,683,821 (GRCm39)	T416S	possibly damaging	Het
Col6a5	A	G	9: 105,805,621 (GRCm39)	L1095P	unknown	Het
Dhx16	T	C	17: 36,200,361 (GRCm39)	C901R	probably damaging	Het
Dip2c	A	G	13: 9,656,371 (GRCm39)	T732A	probably benign	Het
Dnah12	A	C	14: 26,495,069 (GRCm39)	I1376L	probably damaging	Het
Dock2	A	T	11: 34,217,949 (GRCm39)	L1207Q	probably damaging	Het
Eif2ak1	A	T	5: 143,816,278 (GRCm39)	H192L	probably benign	Het
Evi5	T	A	5: 107,969,750 (GRCm39)	T54S	probably benign	Het
Fam151a	T	C	4: 106,592,795 (GRCm39)		probably null	Het
Fam98a	C	T	17: 75,847,187 (GRCm39)		probably null	Het
Frmd4a	G	A	2: 4,570,988 (GRCm39)	R306K	probably damaging	Het
Fxyd7	C	A	7: 30,744,432 (GRCm39)	V28L	possibly damaging	Het
Gabrb1	T	A	5: 72,294,073 (GRCm39)	I449K	probably damaging	Het
Gkn3	G	T	6: 87,360,493 (GRCm39)	D167E	possibly damaging	Het
Gm14496	A	T	2: 181,638,144 (GRCm39)	Y406F	probably damaging	Het
Gm8603	T	A	17: 13,737,073 (GRCm39)		noncoding transcript	Het
Hecw1	T	C	13: 14,438,743 (GRCm39)	N880S	possibly damaging	Het
Hivep2	C	A	10: 14,003,548 (GRCm39)	Q49K	possibly damaging	Het
Hscb	T	A	5: 110,987,492 (GRCm39)	S35C	probably damaging	Het
Hspa12a	T	G	19: 58,793,113 (GRCm39)	K357N	probably benign	Het
Kcnu1	A	T	8: 26,427,588 (GRCm39)	I302F	probably damaging	Het
Krtap5-3	T	A	7: 141,756,215 (GRCm39)	C351S	unknown	Het
Mvd	A	G	8: 123,164,747 (GRCm39)	V142A	probably benign	Het
Myo1f	A	T	17: 33,797,246 (GRCm39)	I143L	probably benign	Het
Ncoa7	T	A	10: 30,565,849 (GRCm39)	E599D	possibly damaging	Het
Nfasc	A	T	1: 132,538,104 (GRCm39)	C495*	probably null	Het
Nfx1	G	A	4: 41,018,019 (GRCm39)	G920E	probably damaging	Het
Nlrp4g	T	G	9: 124,348,980 (GRCm38)		noncoding transcript	Het
Or2z2	T	A	11: 58,345,906 (GRCm39)	I290F	probably damaging	Het
Or5an1c	T	C	19: 12,218,120 (GRCm39)	M302V	probably benign	Het
Pask	T	C	1: 93,238,606 (GRCm39)	Q1293R	possibly damaging	Het
Ppfia2	T	A	10: 106,636,646 (GRCm39)	S232T	probably benign	Het
Prr12	G	A	7: 44,695,612 (GRCm39)	R1285W	unknown	Het
Rimoc1	C	T	15: 4,015,848 (GRCm39)	V239I	probably benign	Het
Rxylt1	A	T	10: 121,930,548 (GRCm39)	D126E	probably damaging	Het
Slc1a1	T	A	19: 28,880,153 (GRCm39)	F278I	possibly damaging	Het
Sos1	G	T	17: 80,705,719 (GRCm39)	T1284N	probably damaging	Het
Sp2	T	A	11: 96,847,036 (GRCm39)	Q475L	probably damaging	Het
Spmip2	C	A	3: 79,356,741 (GRCm39)		probably benign	Het
Spmip2	C	A	3: 79,356,742 (GRCm39)		probably benign	Het
Sspo	A	T	6: 48,444,917 (GRCm39)	T2134S	possibly damaging	Het
Tbx1	C	A	16: 18,401,552 (GRCm39)	A300S	probably benign	Het
Uap1	A	C	1: 169,994,281 (GRCm39)	V65G	probably benign	Het
Ubr2	G	A	17: 47,278,123 (GRCm39)	T738I	probably benign	Het
Uvrag	A	T	7: 98,758,297 (GRCm39)	Y81*	probably null	Het
Vmn2r116	T	G	17: 23,603,907 (GRCm39)	I44S	probably benign	Het
Xkr8	A	T	4: 132,455,688 (GRCm39)	Y228*	probably null	Het
Zbtb20	A	G	16: 43,430,025 (GRCm39)	I106V	possibly damaging	Het
Zc3h7a	C	T	16: 10,964,259 (GRCm39)	S683N	probably benign	Het
Zfp146	A	T	7: 29,861,905 (GRCm39)	C46S	possibly damaging	Het
Zfp871	T	C	17: 32,994,662 (GRCm39)	E152G	possibly damaging	Het
Zfp90	T	C	8: 107,146,156 (GRCm39)	V57A	probably damaging	Het
Zhx3	A	T	2: 160,621,718 (GRCm39)	N816K	probably damaging	Het

Other mutations in Nup85

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00550:Nup85	APN	11	115,472,582 (GRCm39)	missense	probably damaging	1.00
IGL01538:Nup85	APN	11	115,460,540 (GRCm39)	missense	possibly damaging	0.81
IGL01775:Nup85	APN	11	115,471,593 (GRCm39)	missense	probably damaging	1.00
IGL02456:Nup85	APN	11	115,472,691 (GRCm39)	unclassified	probably benign
IGL02888:Nup85	APN	11	115,469,626 (GRCm39)	missense	possibly damaging	0.89
IGL03210:Nup85	APN	11	115,457,462 (GRCm39)	missense	probably benign	0.11
PIT4403001:Nup85	UTSW	11	115,472,646 (GRCm39)	missense	probably damaging	0.98
R0195:Nup85	UTSW	11	115,455,357 (GRCm39)	start codon destroyed	probably null	1.00
R0394:Nup85	UTSW	11	115,455,357 (GRCm39)	start codon destroyed	probably null	1.00
R0639:Nup85	UTSW	11	115,455,357 (GRCm39)	start codon destroyed	probably null	1.00
R0883:Nup85	UTSW	11	115,459,196 (GRCm39)	nonsense	probably null
R1567:Nup85	UTSW	11	115,459,224 (GRCm39)	missense	possibly damaging	0.83
R1774:Nup85	UTSW	11	115,473,771 (GRCm39)	missense	probably benign	0.01
R1846:Nup85	UTSW	11	115,459,239 (GRCm39)	missense	probably benign	0.11
R1851:Nup85	UTSW	11	115,472,643 (GRCm39)	missense	probably damaging	1.00
R2084:Nup85	UTSW	11	115,459,517 (GRCm39)	missense	possibly damaging	0.71
R4766:Nup85	UTSW	11	115,468,751 (GRCm39)	splice site	probably null
R5748:Nup85	UTSW	11	115,471,338 (GRCm39)	missense	probably damaging	1.00
R6362:Nup85	UTSW	11	115,474,560 (GRCm39)	missense	probably damaging	0.98
R6906:Nup85	UTSW	11	115,471,769 (GRCm39)	missense	probably damaging	1.00
R6951:Nup85	UTSW	11	115,473,781 (GRCm39)	missense	possibly damaging	0.95
R7835:Nup85	UTSW	11	115,460,897 (GRCm39)	missense	probably benign	0.35
R8125:Nup85	UTSW	11	115,469,063 (GRCm39)	frame shift	probably null
R8151:Nup85	UTSW	11	115,468,759 (GRCm39)	missense	probably benign	0.06
R8415:Nup85	UTSW	11	115,457,468 (GRCm39)	missense	probably benign
R8517:Nup85	UTSW	11	115,455,390 (GRCm39)	critical splice donor site	probably null
R9090:Nup85	UTSW	11	115,468,787 (GRCm39)	missense	possibly damaging	0.94
R9254:Nup85	UTSW	11	115,469,424 (GRCm39)	missense	probably benign
R9271:Nup85	UTSW	11	115,468,787 (GRCm39)	missense	possibly damaging	0.94
R9379:Nup85	UTSW	11	115,469,424 (GRCm39)	missense	probably benign
R9670:Nup85	UTSW	11	115,457,471 (GRCm39)	missense	probably benign	0.41
R9709:Nup85	UTSW	11	115,457,463 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16