Mutagenetix > Incidental Mutation

Incidental Mutation 'R5395:Nol6'

426106

Institutional Source

Beutler Lab

Gene Symbol

Nol6

Ensembl Gene

ENSMUSG00000028430

Gene Name

nucleolar protein family 6 (RNA-associated)

Synonyms

Nrap

MMRRC Submission

042967-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R5395 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41114427-41124450 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 41118392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030138] [ENSMUST00000030138] [ENSMUST00000030138]

AlphaFold

Q8R5K4

Predicted Effect

probably benign
Transcript: ENSMUST00000030138

SMART Domains

Protein: ENSMUSP00000030138
Gene: ENSMUSG00000028430

Domain	Start	End	E-Value	Type
Pfam:Nrap	174	1145	5e-287	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030138

SMART Domains

Protein: ENSMUSP00000030138
Gene: ENSMUSG00000028430

Domain	Start	End	E-Value	Type
Pfam:Nrap	174	1145	5e-287	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030138

SMART Domains

Protein: ENSMUSP00000030138
Gene: ENSMUSG00000028430

Domain	Start	End	E-Value	Type
Pfam:Nrap	174	1145	5e-287	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155315

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,874,590 (GRCm39)	I268V	probably benign	Het
Actn1	T	A	12: 80,217,477 (GRCm39)	I782F	probably benign	Het
Adamdec1	A	C	14: 68,808,352 (GRCm39)	S333A	probably benign	Het
Agbl5	C	A	5: 31,047,682 (GRCm39)	T58N	probably damaging	Het
Apoo-ps	T	A	13: 107,550,993 (GRCm39)		noncoding transcript	Het
Arhgef10l	T	C	4: 140,297,601 (GRCm39)	N277S	probably benign	Het
Ascc2	A	G	11: 4,609,273 (GRCm39)	E241G	possibly damaging	Het
Atp13a4	A	T	16: 29,239,706 (GRCm39)	Y835*	probably null	Het
Atp13a4	A	G	16: 29,275,422 (GRCm39)	V354A	possibly damaging	Het
Bcas3	T	C	11: 85,716,075 (GRCm39)	S426P	probably damaging	Het
Birc2	T	C	9: 7,861,175 (GRCm39)	R48G	probably damaging	Het
Cacna2d4	T	C	6: 119,248,379 (GRCm39)	S397P	possibly damaging	Het
Ccng2	T	C	5: 93,417,257 (GRCm39)	M91T	possibly damaging	Het
Clk3	G	A	9: 57,660,622 (GRCm39)	T473M	probably damaging	Het
Cog2	T	A	8: 125,271,960 (GRCm39)	H491Q	probably benign	Het
Cyp4f40	C	T	17: 32,888,827 (GRCm39)	T202I	probably benign	Het
Dennd1a	A	T	2: 37,692,140 (GRCm39)	F181I	probably damaging	Het
Fcrl6	G	T	1: 172,426,287 (GRCm39)	A170D	possibly damaging	Het
Fev	T	C	1: 74,921,823 (GRCm39)		probably null	Het
Flnb	A	G	14: 7,883,881 (GRCm38)	N369S	probably benign	Het
Flt3	A	G	5: 147,291,633 (GRCm39)	F606L	probably damaging	Het
Gdf9	T	C	11: 53,324,624 (GRCm39)	V131A	probably benign	Het
Gdnf	T	A	15: 7,864,165 (GRCm39)	L192Q	probably damaging	Het
Gjc2	A	T	11: 59,068,315 (GRCm39)	C56S	possibly damaging	Het
Gli3	T	C	13: 15,889,535 (GRCm39)	F550L	probably damaging	Het
Gm1110	T	C	9: 26,800,928 (GRCm39)	E422G	probably benign	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gnb2	A	G	5: 137,526,788 (GRCm39)	S334P	probably damaging	Het
Icam2	A	T	11: 106,273,299 (GRCm39)		probably null	Het
Inca1	C	T	11: 70,581,264 (GRCm39)		probably null	Het
Itgb8	A	C	12: 119,134,476 (GRCm39)	C530W	probably damaging	Het
Lrp1	T	C	10: 127,431,166 (GRCm39)	D332G	probably damaging	Het
Ly75	A	T	2: 60,195,455 (GRCm39)	N234K	probably benign	Het
Mcm5	G	A	8: 75,849,654 (GRCm39)	S542N	probably benign	Het
Mcm9	A	T	10: 53,414,788 (GRCm39)	N97K	possibly damaging	Het
Morc2a	G	A	11: 3,638,232 (GRCm39)	R986H	possibly damaging	Het
Neu2	T	A	1: 87,524,397 (GRCm39)		probably null	Het
Nfatc1	G	A	18: 80,679,235 (GRCm39)	P718S	possibly damaging	Het
Or10j7	A	T	1: 173,011,247 (GRCm39)	Y251*	probably null	Het
Otogl	T	C	10: 107,652,999 (GRCm39)	N1118D	probably benign	Het
Pcdh15	T	A	10: 74,021,119 (GRCm39)	I111K	probably damaging	Het
Phkb	A	G	8: 86,744,097 (GRCm39)	D582G	probably damaging	Het
Piwil2	G	T	14: 70,632,846 (GRCm39)	N575K	probably benign	Het
Pou4f2	T	A	8: 79,161,701 (GRCm39)	I301F	probably damaging	Het
Prkd1	T	C	12: 50,438,215 (GRCm39)	N409S	probably damaging	Het
Ptpn21	T	G	12: 98,681,376 (GRCm39)	K86T	probably damaging	Het
Raly	T	A	2: 154,705,927 (GRCm39)		probably null	Het
Rangap1	A	G	15: 81,590,647 (GRCm39)	F482L	probably benign	Het
Rapgef1	T	A	2: 29,627,977 (GRCm39)	N1052K	probably damaging	Het
Rnf169	A	T	7: 99,584,367 (GRCm39)		probably null	Het
Sdr16c5	T	C	4: 4,016,277 (GRCm39)	S50G	probably benign	Het
Sin3a	G	A	9: 57,012,957 (GRCm39)	R612H	probably damaging	Het
Six6	T	A	12: 72,988,475 (GRCm39)	L216*	probably null	Het
Slc20a1	A	T	2: 129,050,257 (GRCm39)	N472Y	probably damaging	Het
Slc35d1	C	T	4: 103,068,572 (GRCm39)		probably null	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc7a8	C	A	14: 54,970,734 (GRCm39)	G306*	probably null	Het
Slc9a8	T	A	2: 167,309,642 (GRCm39)	F335L	probably damaging	Het
Smyd1	T	G	6: 71,196,374 (GRCm39)	K338T	possibly damaging	Het
Snd1	T	A	6: 28,526,183 (GRCm39)	V187E	probably damaging	Het
Spag9	T	G	11: 93,982,577 (GRCm39)		probably null	Het
Tnfsf9	C	A	17: 57,412,592 (GRCm39)	T54K	probably benign	Het
Trim24	T	G	6: 37,934,679 (GRCm39)	V798G	probably damaging	Het
Tyr	C	A	7: 87,121,698 (GRCm39)	A365S	probably damaging	Het
Usp43	T	A	11: 67,788,184 (GRCm39)		probably null	Het
Vmn2r55	T	C	7: 12,385,874 (GRCm39)	D702G	probably damaging	Het
Vmn2r72	A	G	7: 85,400,105 (GRCm39)	S315P	possibly damaging	Het
Wdr64	T	A	1: 175,583,164 (GRCm39)	F367I	probably damaging	Het
Zc3h7b	G	A	15: 81,656,702 (GRCm39)	R173K	possibly damaging	Het
Zfp493	T	A	13: 67,931,965 (GRCm39)	C21*	probably null	Het
Zfp825	T	C	13: 74,628,665 (GRCm39)	T284A	possibly damaging	Het
Zpbp2	T	A	11: 98,449,039 (GRCm39)	V275D	probably damaging	Het

Other mutations in Nol6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Nol6	APN	4	41,123,374 (GRCm39)	missense	possibly damaging	0.89
IGL00787:Nol6	APN	4	41,122,198 (GRCm39)	missense	probably benign	0.10
IGL01062:Nol6	APN	4	41,118,205 (GRCm39)	missense	probably benign	0.13
IGL01113:Nol6	APN	4	41,115,749 (GRCm39)	missense	probably damaging	1.00
IGL01874:Nol6	APN	4	41,115,412 (GRCm39)	missense	probably damaging	1.00
IGL01995:Nol6	APN	4	41,118,567 (GRCm39)	missense	probably damaging	1.00
IGL02060:Nol6	APN	4	41,117,700 (GRCm39)	missense	probably damaging	1.00
IGL03082:Nol6	APN	4	41,115,878 (GRCm39)	splice site	probably benign
IGL03221:Nol6	APN	4	41,124,166 (GRCm39)	missense	probably benign	0.00
IGL03332:Nol6	APN	4	41,120,735 (GRCm39)	missense	probably damaging	1.00
leaky	UTSW	4	41,118,154 (GRCm39)	missense	probably benign	0.02
R0066:Nol6	UTSW	4	41,119,572 (GRCm39)	splice site	probably benign
R0066:Nol6	UTSW	4	41,119,572 (GRCm39)	splice site	probably benign
R0308:Nol6	UTSW	4	41,123,584 (GRCm39)	missense	probably benign	0.01
R0632:Nol6	UTSW	4	41,121,115 (GRCm39)	missense	probably damaging	0.96
R1222:Nol6	UTSW	4	41,120,760 (GRCm39)	missense	probably benign	0.01
R1471:Nol6	UTSW	4	41,120,281 (GRCm39)	missense	probably benign	0.00
R1481:Nol6	UTSW	4	41,123,596 (GRCm39)	missense	probably benign	0.00
R1971:Nol6	UTSW	4	41,119,542 (GRCm39)	missense	probably damaging	1.00
R2191:Nol6	UTSW	4	41,118,720 (GRCm39)	missense	probably benign	0.00
R2495:Nol6	UTSW	4	41,118,427 (GRCm39)	missense	probably damaging	1.00
R3852:Nol6	UTSW	4	41,117,452 (GRCm39)	missense	probably damaging	0.99
R3923:Nol6	UTSW	4	41,121,531 (GRCm39)	missense	probably benign	0.17
R4458:Nol6	UTSW	4	41,115,888 (GRCm39)	missense	probably damaging	1.00
R4510:Nol6	UTSW	4	41,123,526 (GRCm39)	missense	probably damaging	1.00
R4511:Nol6	UTSW	4	41,123,526 (GRCm39)	missense	probably damaging	1.00
R4575:Nol6	UTSW	4	41,120,299 (GRCm39)	missense	probably benign	0.00
R4637:Nol6	UTSW	4	41,121,788 (GRCm39)	missense	probably damaging	0.99
R4700:Nol6	UTSW	4	41,118,944 (GRCm39)	missense	possibly damaging	0.58
R4820:Nol6	UTSW	4	41,121,508 (GRCm39)	missense	probably damaging	1.00
R4975:Nol6	UTSW	4	41,120,167 (GRCm39)	missense	probably benign	0.00
R5826:Nol6	UTSW	4	41,122,158 (GRCm39)	missense	probably benign	0.04
R6531:Nol6	UTSW	4	41,118,154 (GRCm39)	missense	probably benign	0.02
R6943:Nol6	UTSW	4	41,118,962 (GRCm39)	missense	probably damaging	1.00
R7001:Nol6	UTSW	4	41,121,279 (GRCm39)	missense	probably benign	0.00
R7035:Nol6	UTSW	4	41,118,479 (GRCm39)	missense	probably benign	0.01
R7282:Nol6	UTSW	4	41,119,468 (GRCm39)	missense	probably benign	0.18
R7327:Nol6	UTSW	4	41,116,686 (GRCm39)	missense	probably benign	0.34
R7402:Nol6	UTSW	4	41,118,699 (GRCm39)	missense	probably damaging	1.00
R7483:Nol6	UTSW	4	41,117,424 (GRCm39)	missense	possibly damaging	0.92
R7505:Nol6	UTSW	4	41,120,352 (GRCm39)	missense	probably damaging	1.00
R7669:Nol6	UTSW	4	41,118,717 (GRCm39)	missense	probably damaging	0.97
R8255:Nol6	UTSW	4	41,120,168 (GRCm39)	missense	probably benign	0.01
R8401:Nol6	UTSW	4	41,119,548 (GRCm39)	missense	possibly damaging	0.87
R8426:Nol6	UTSW	4	41,119,870 (GRCm39)	missense	probably benign	0.36
R8826:Nol6	UTSW	4	41,121,823 (GRCm39)	missense	probably benign	0.26
R9228:Nol6	UTSW	4	41,116,422 (GRCm39)	missense	probably benign	0.42
R9259:Nol6	UTSW	4	41,118,229 (GRCm39)	missense	possibly damaging	0.84
R9571:Nol6	UTSW	4	41,120,156 (GRCm39)	missense	probably benign	0.00
R9604:Nol6	UTSW	4	41,120,298 (GRCm39)	missense	probably benign	0.05
R9748:Nol6	UTSW	4	41,123,538 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTCAGGATCTGTGGCTCC -3'
(R):5'- CGGAATCAGATCTCTCACCC -3'

Sequencing Primer
(F):5'- ATCTGTGGCTCCCGCTGATAG -3'
(R):5'- GGAATCAGATCTCTCACCCCTTCTG -3'

Posted On

2016-08-04