Mutagenetix > Incidental Mutation

Incidental Mutation 'R6362:Nup85'

512537

Institutional Source

Beutler Lab

Gene Symbol

Nup85

Ensembl Gene

ENSMUSG00000020739

Gene Name

nucleoporin 85

Synonyms

Pcnt1, frount

MMRRC Submission

044512-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6362 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115455264-115474750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115474560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 628 (E628G)

Ref Sequence

ENSEMBL: ENSMUSP00000021085 (fasta)

Gene Model

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

AlphaFold

Q8R480

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 damaging
Transcript: ENSMUST00000021085
AA Change: E628G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021085
Gene: ENSMUSG00000020739
AA Change: E628G

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: ENSMUST00000123831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154832

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: ENSMUST00000148782

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128745

Meta Mutation Damage Score

0.1266

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

99% (78/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh5a1	T	G	13: 25,102,533 (GRCm39)	D310A	probably benign	Het
Als2cl	T	A	9: 110,724,514 (GRCm39)		probably null	Het
Amacr	C	A	15: 10,984,891 (GRCm39)	R170S	probably damaging	Het
Brwd1	C	T	16: 95,803,507 (GRCm39)	R2221Q	probably damaging	Het
Cacna1g	A	T	11: 94,330,533 (GRCm39)		probably null	Het
Cd3d	G	A	9: 44,897,589 (GRCm39)	D157N	probably damaging	Het
Cep131	T	C	11: 119,955,516 (GRCm39)	D1043G	probably damaging	Het
Cimip1	T	G	2: 173,369,967 (GRCm39)		probably null	Het
Cit	A	G	5: 116,024,735 (GRCm39)	D326G	probably benign	Het
Col16a1	G	C	4: 129,959,983 (GRCm39)	G370R	unknown	Het
Col6a3	T	A	1: 90,738,285 (GRCm39)	Y1078F	probably damaging	Het
Colgalt2	A	C	1: 152,347,549 (GRCm39)	Y161S	probably damaging	Het
Cyp2j13	A	G	4: 95,959,932 (GRCm39)	Y75H	probably damaging	Het
Daxx	G	A	17: 34,130,338 (GRCm39)	V118I	probably damaging	Het
Dennd5a	G	T	7: 109,533,472 (GRCm39)	C75*	probably null	Het
Diaph3	A	G	14: 87,009,566 (GRCm39)	L1071P	probably damaging	Het
Disp3	A	G	4: 148,338,765 (GRCm39)	L802P	possibly damaging	Het
Dmc1	A	G	15: 79,473,024 (GRCm39)	V141A	probably benign	Het
Dsc2	A	T	18: 20,168,520 (GRCm39)	Y45*	probably null	Het
Dspp	A	G	5: 104,323,900 (GRCm39)	I348V	probably benign	Het
Epb42	C	A	2: 120,856,260 (GRCm39)	C428F	possibly damaging	Het
Fam227a	G	T	15: 79,527,551 (GRCm39)	P100Q	possibly damaging	Het
Fer1l4	C	T	2: 155,890,170 (GRCm39)	V252I	probably benign	Het
Fhod1	C	A	8: 106,058,273 (GRCm39)		probably null	Het
Fhod3	G	T	18: 24,887,312 (GRCm39)	A68S	probably benign	Het
Gatm	T	C	2: 122,428,677 (GRCm39)	D328G	probably benign	Het
Gm6401	G	T	14: 41,789,727 (GRCm39)	H44N	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpr84	G	A	15: 103,216,937 (GRCm39)	A380V	probably damaging	Het
Herc1	G	T	9: 66,379,190 (GRCm39)	W3492L	probably damaging	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Jag2	T	A	12: 112,883,742 (GRCm39)	K246N	probably damaging	Het
Klhl32	T	C	4: 24,629,195 (GRCm39)	D524G	probably null	Het
Lax1	A	G	1: 133,608,334 (GRCm39)	S136P	possibly damaging	Het
Lefty1	A	G	1: 180,764,725 (GRCm39)	K217E	probably benign	Het
Lgr5	A	G	10: 115,314,430 (GRCm39)	L169P	probably damaging	Het
Lrrc37	G	C	11: 103,511,478 (GRCm39)	N163K	unknown	Het
Mad1l1	A	T	5: 140,300,810 (GRCm39)	S29T	possibly damaging	Het
Man1a	T	C	10: 53,950,891 (GRCm39)	H77R	probably benign	Het
Met	C	T	6: 17,558,732 (GRCm39)	S1120F	probably damaging	Het
Mfsd4b2	A	T	10: 39,797,605 (GRCm39)	I250N	probably damaging	Het
Myod1	A	G	7: 46,026,305 (GRCm39)	H70R	possibly damaging	Het
Neb	T	C	2: 52,102,704 (GRCm39)	N4280S	probably benign	Het
Nudt6	T	C	3: 37,473,638 (GRCm39)	T28A	possibly damaging	Het
Oaz3	A	T	3: 94,342,295 (GRCm39)	D120E	probably damaging	Het
Or2y3	A	T	17: 38,393,620 (GRCm39)	M83K	probably damaging	Het
Or5b102	A	T	19: 13,040,709 (GRCm39)		probably benign	Het
Or5be3	C	T	2: 86,863,633 (GRCm39)	A311T	probably benign	Het
Or5m8	C	A	2: 85,822,285 (GRCm39)	N41K	probably damaging	Het
Or6c1b	A	C	10: 129,272,812 (GRCm39)	I44L	probably damaging	Het
Osbpl8	A	T	10: 111,108,929 (GRCm39)	K404*	probably null	Het
Pcdhga2	A	G	18: 37,803,958 (GRCm39)	N601D	probably damaging	Het
Pld2	T	C	11: 70,445,501 (GRCm39)	Y638H	probably damaging	Het
Pramel27	A	G	4: 143,579,435 (GRCm39)	Y340C	probably damaging	Het
Prickle2	C	G	6: 92,435,596 (GRCm39)	V2L	possibly damaging	Het
Psmd6	G	A	14: 14,116,949 (GRCm38)	R125C	probably benign	Het
Rnaset2b	G	A	17: 7,259,093 (GRCm39)	V24I	probably benign	Het
Rusc2	A	T	4: 43,416,416 (GRCm39)	D574V	probably benign	Het
Scn8a	T	A	15: 100,837,996 (GRCm39)		probably null	Het
Sec11a	T	C	7: 80,572,879 (GRCm39)	E134G	probably benign	Het
Senp5	A	G	16: 31,808,702 (GRCm39)	V157A	probably damaging	Het
Shkbp1	C	T	7: 27,051,120 (GRCm39)		probably null	Het
Slc43a1	T	C	2: 84,690,128 (GRCm39)	L435P	probably damaging	Het
Spn	G	A	7: 126,735,895 (GRCm39)	P204L	possibly damaging	Het
Srr	T	A	11: 74,801,028 (GRCm39)	Q173L	probably damaging	Het
Star	C	G	8: 26,301,835 (GRCm39)	T222S	probably benign	Het
Timm22	T	A	11: 76,301,953 (GRCm39)	Y93N	probably damaging	Het
Tmc4	G	T	7: 3,678,458 (GRCm39)	Q58K	probably benign	Het
Tmem86b	C	T	7: 4,632,835 (GRCm39)	M1I	probably null	Het
Tmtc2	A	T	10: 105,205,831 (GRCm39)	I488N	probably damaging	Het
Tnxb	A	T	17: 34,913,362 (GRCm39)	Y1792F	probably damaging	Het
Tph1	T	A	7: 46,296,867 (GRCm39)	R443W	possibly damaging	Het
Ttyh1	T	A	7: 4,132,323 (GRCm39)	V253E	possibly damaging	Het
Usf3	A	G	16: 44,038,940 (GRCm39)	D1140G	probably benign	Het
Usp10	T	C	8: 120,668,055 (GRCm39)	S118P	probably benign	Het
Vmn2r63	C	T	7: 42,552,721 (GRCm39)	C845Y	probably benign	Het
Vmn2r72	G	T	7: 85,400,382 (GRCm39)	F222L	probably damaging	Het
Zfp654	G	A	16: 64,606,457 (GRCm39)	Q582*	probably null	Het
Zfp791	C	T	8: 85,846,279 (GRCm39)		probably benign	Het
Zfp879	T	A	11: 50,729,302 (GRCm39)	D32V	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
IGL02170:Nup85	APN	11	115,468,757 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- TTCTGTAACACCAACTTTTAGGAGC -3'
(R):5'- GCAATGTCAGGTTCAGAATAGAC -3'

Sequencing Primer
(F):5'- TAGGAGCAAGTCTTCCCACTG -3'
(R):5'- CCTTGGTAGGATTAACAATTGGTC -3'

Posted On

2018-04-27