Mutagenetix > Incidental Mutation

Incidental Mutation 'R0394:Nup85'

31879

Institutional Source

Beutler Lab

Gene Symbol

Nup85

Ensembl Gene

ENSMUSG00000020739

Gene Name

nucleoporin 85

Synonyms

Pcnt1, frount

MMRRC Submission

038600-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115455264-115474750 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to G at 115455357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 1 (M1R)

Ref Sequence

ENSEMBL: ENSMUSP00000021085 (fasta)

Gene Model

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

AlphaFold

Q8R480

Predicted Effect

probably null
Transcript: ENSMUST00000021085
AA Change: M1R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021085
Gene: ENSMUSG00000020739
AA Change: M1R

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

Meta Mutation Damage Score

0.9401

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (79/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,773,065 (GRCm39)	S751R	probably damaging	Het
Abca8a	A	G	11: 109,917,169 (GRCm39)	V1610A	probably damaging	Het
Actl10	A	T	2: 154,394,957 (GRCm39)	H202L	probably benign	Het
Alox12	A	T	11: 70,136,761 (GRCm39)	V489E	probably damaging	Het
Ap4m1	T	A	5: 138,170,465 (GRCm39)	F5I	probably benign	Het
Atn1	T	C	6: 124,726,696 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,661,608 (GRCm39)	N529K	probably benign	Het
B3gntl1	C	T	11: 121,510,541 (GRCm39)	G336D	probably damaging	Het
Bmp1	G	A	14: 70,727,474 (GRCm39)	A703V	probably damaging	Het
Brat1	T	G	5: 140,704,141 (GRCm39)	L798R	probably damaging	Het
Cacna1c	C	T	6: 118,602,458 (GRCm39)	G1302R	probably damaging	Het
Cdr2	A	T	7: 120,557,954 (GRCm39)	D190E	probably benign	Het
Cenpe	T	C	3: 134,922,186 (GRCm39)		probably benign	Het
Clstn1	A	G	4: 149,728,635 (GRCm39)	D687G	probably benign	Het
Coro1a	A	G	7: 126,299,812 (GRCm39)	F337L	probably benign	Het
Ddx49	T	A	8: 70,749,575 (GRCm39)	I252F	probably damaging	Het
Dennd2a	T	A	6: 39,499,746 (GRCm39)	D273V	possibly damaging	Het
Derl2	A	T	11: 70,905,387 (GRCm39)	F32I	probably benign	Het
Dmrta1	A	G	4: 89,580,276 (GRCm39)	Y412C	probably damaging	Het
Dsg1a	A	G	18: 20,466,807 (GRCm39)	N559S	probably damaging	Het
Dusp26	G	T	8: 31,581,987 (GRCm39)	R27L	probably benign	Het
Eif2ak3	T	C	6: 70,862,202 (GRCm39)	I492T	probably benign	Het
Exoc7	G	T	11: 116,191,224 (GRCm39)	Q219K	probably damaging	Het
F2r	T	C	13: 95,740,984 (GRCm39)	T184A	probably damaging	Het
Fbf1	G	A	11: 116,043,288 (GRCm39)		probably benign	Het
Fbxo28	A	G	1: 182,144,580 (GRCm39)	M328T	probably benign	Het
Fsip2	T	A	2: 82,821,419 (GRCm39)	D5717E	possibly damaging	Het
Gnpat	C	A	8: 125,606,964 (GRCm39)	S373R	possibly damaging	Het
Golgb1	G	T	16: 36,695,941 (GRCm39)		probably benign	Het
Greb1l	T	C	18: 10,523,374 (GRCm39)	V844A	probably damaging	Het
Hps1	G	T	19: 42,759,338 (GRCm39)		probably null	Het
Inppl1	G	T	7: 101,477,402 (GRCm39)		probably benign	Het
Isca1	C	T	13: 59,906,699 (GRCm39)		probably null	Het
Itgb2	T	A	10: 77,378,309 (GRCm39)	C46S	probably damaging	Het
Kifc5b	C	T	17: 27,142,056 (GRCm39)	T178M	probably benign	Het
Krt80	T	C	15: 101,250,180 (GRCm39)	T22A	probably damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Ltbp2	C	T	12: 84,853,198 (GRCm39)		probably benign	Het
Mettl18	A	G	1: 163,823,910 (GRCm39)	D77G	probably benign	Het
Mfsd2a	A	G	4: 122,843,961 (GRCm39)	L336P	probably benign	Het
Mgat4b	A	G	11: 50,121,746 (GRCm39)		probably null	Het
Mtmr14	C	T	6: 113,257,649 (GRCm39)	R233*	probably null	Het
Nbea	T	C	3: 55,937,328 (GRCm39)	Y761C	probably damaging	Het
Neb	A	T	2: 52,067,571 (GRCm39)		probably null	Het
Obi1	T	C	14: 104,716,289 (GRCm39)	R695G	possibly damaging	Het
Or6c70	T	A	10: 129,709,811 (GRCm39)	I272L	probably benign	Het
Oxr1	T	A	15: 41,680,593 (GRCm39)	M177K	probably damaging	Het
Pgm2l1	A	G	7: 99,901,405 (GRCm39)	Y98C	probably damaging	Het
Pi4kb	G	T	3: 94,904,115 (GRCm39)		probably benign	Het
Pi4kb	G	A	3: 94,904,116 (GRCm39)		probably benign	Het
Pirb	T	A	7: 3,722,247 (GRCm39)	S199C	probably benign	Het
Prss23	A	C	7: 89,159,055 (GRCm39)	I338S	probably damaging	Het
Rapgef3	A	T	15: 97,655,700 (GRCm39)		probably benign	Het
Rdh7	T	A	10: 127,720,539 (GRCm39)	T278S	probably benign	Het
Rrp1b	A	G	17: 32,277,538 (GRCm39)	D606G	probably benign	Het
Rxfp1	T	A	3: 79,559,684 (GRCm39)	Y379F	possibly damaging	Het
Rxfp2	T	C	5: 149,990,853 (GRCm39)	V514A	probably benign	Het
Scel	A	T	14: 103,799,954 (GRCm39)	E202V	probably benign	Het
Slc25a36	G	A	9: 96,962,257 (GRCm39)	A244V	probably benign	Het
Slc2a13	T	G	15: 91,400,595 (GRCm39)	Q209P	probably damaging	Het
Slc38a6	A	G	12: 73,399,304 (GRCm39)	N456S	probably benign	Het
Slc6a12	G	T	6: 121,323,957 (GRCm39)		probably null	Het
Spag6l	T	C	16: 16,598,493 (GRCm39)	I333V	probably benign	Het
Spen	G	A	4: 141,201,514 (GRCm39)	A2371V	probably benign	Het
St6galnac1	T	C	11: 116,657,466 (GRCm39)	D366G	probably damaging	Het
Stk33	T	C	7: 108,940,696 (GRCm39)	S5G	probably benign	Het
Tex56	T	C	13: 35,116,636 (GRCm39)		probably benign	Het
Tle2	T	C	10: 81,413,482 (GRCm39)	L84P	probably damaging	Het
Tmem14a	T	C	1: 21,296,876 (GRCm39)	M78T	probably damaging	Het
Top2b	T	A	14: 16,413,556 (GRCm38)		probably null	Het
Trmt13	A	G	3: 116,376,299 (GRCm39)	F364S	probably damaging	Het
Unkl	T	A	17: 25,449,751 (GRCm39)		probably null	Het
Uvrag	A	G	7: 98,653,926 (GRCm39)		probably benign	Het
Vmn2r8	T	A	5: 108,949,938 (GRCm39)	N303I	probably benign	Het
Vsig10l	A	G	7: 43,114,879 (GRCm39)	N360S	probably damaging	Het
Zdhhc25	T	C	15: 88,485,123 (GRCm39)	Y153H	probably damaging	Het
Zfp646	T	C	7: 127,482,434 (GRCm39)	V1537A	possibly damaging	Het
Zfp664	T	A	5: 124,963,129 (GRCm39)	Y174*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AATAGATGCGCCAGCACGCTTC -3'
(R):5'- TGACATTCGGGATGGTGGCAAC -3'

Sequencing Primer
(F):5'- GCCTGATCTACTGGGAACATTC -3'
(R):5'- ATGGTGGCAACTGTGTCCAG -3'

Posted On

2013-04-24