Mutagenetix > Incidental Mutation

Incidental Mutation 'R7505:Nol6'

581712

Institutional Source

Beutler Lab

Gene Symbol

Nol6

Ensembl Gene

ENSMUSG00000028430

Gene Name

nucleolar protein family 6 (RNA-associated)

Synonyms

Nrap

MMRRC Submission

045578-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R7505 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41114427-41124450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41120352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 455 (D455G)

Ref Sequence

ENSEMBL: ENSMUSP00000030138 (fasta)

Gene Model

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

AlphaFold

Q8R5K4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030138
AA Change: D455G

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

SMART Domains

Protein: ENSMUSP00000030138
Gene: ENSMUSG00000028430
AA Change: D455G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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
Abcd2	T	A	15: 91,033,260 (GRCm39)	N719Y	possibly damaging	Het
Adamts2	T	C	11: 50,687,347 (GRCm39)	I1058T	probably benign	Het
Alb	T	A	5: 90,617,368 (GRCm39)	Y356N	probably damaging	Het
Ankrd52	A	G	10: 128,225,924 (GRCm39)	N971D	probably damaging	Het
Atp6v1c2	A	G	12: 17,347,724 (GRCm39)		probably null	Het
Atp6v1h	A	T	1: 5,194,561 (GRCm39)	I247L	probably benign	Het
Cacna1s	C	T	1: 136,013,187 (GRCm39)	R593*	probably null	Het
Cacna2d3	C	T	14: 28,767,501 (GRCm39)		probably null	Het
Cdh15	G	A	8: 123,575,231 (GRCm39)	G2D	probably benign	Het
Cebpe	G	T	14: 54,948,113 (GRCm39)	N243K	probably damaging	Het
Celf2	A	T	2: 6,629,511 (GRCm39)	M136K	probably damaging	Het
Cep290	A	G	10: 100,352,127 (GRCm39)	I778V	probably benign	Het
Col22a1	A	T	15: 71,671,248 (GRCm39)	C1592*	probably null	Het
Cpne2	A	T	8: 95,275,094 (GRCm39)	N34I	possibly damaging	Het
Cps1	A	G	1: 67,219,240 (GRCm39)	N860S	probably benign	Het
Disp2	T	G	2: 118,621,569 (GRCm39)	L767R	probably damaging	Het
Eif1ad19	A	T	12: 87,740,270 (GRCm39)	N96K	probably benign	Het
Evpl	A	G	11: 116,117,813 (GRCm39)		probably null	Het
F7	A	T	8: 13,078,745 (GRCm39)	N59Y	possibly damaging	Het
Fam98a	A	T	17: 75,845,233 (GRCm39)	H504Q	unknown	Het
Fbxo4	G	A	15: 4,000,903 (GRCm39)	R270C	probably benign	Het
Fcgbp	T	C	7: 27,789,099 (GRCm39)	V555A	probably damaging	Het
Fgf4	T	C	7: 144,415,498 (GRCm39)	V86A	possibly damaging	Het
Fpgt	G	T	3: 154,792,413 (GRCm39)	A538D	possibly damaging	Het
Gars1	A	G	6: 55,029,162 (GRCm39)	T181A	probably benign	Het
Gask1a	G	C	9: 121,805,483 (GRCm39)	G425R	probably benign	Het
Gbx2	A	G	1: 89,856,455 (GRCm39)	S312P	probably benign	Het
Gm29735	C	T	7: 141,710,327 (GRCm39)	C175Y	unknown	Het
Gm7995	A	G	14: 42,132,314 (GRCm39)	T49A		Het
Hnrnpk	A	G	13: 58,547,783 (GRCm39)	M27T	probably benign	Het
Idh3b	A	G	2: 130,126,147 (GRCm39)	S20P	probably benign	Het
Idh3b	G	C	2: 130,126,153 (GRCm39)	R18G	probably benign	Het
Ighg2b	T	A	12: 113,268,600 (GRCm39)	T354S		Het
Lrfn2	T	A	17: 49,403,479 (GRCm39)	M534K	probably benign	Het
Mcpt8	G	A	14: 56,320,548 (GRCm39)	A127V	probably benign	Het
Msi2	A	T	11: 88,304,743 (GRCm39)	N176K	possibly damaging	Het
Mtr	G	T	13: 12,236,362 (GRCm39)	D621E	probably benign	Het
Nlrp5	T	A	7: 23,106,925 (GRCm39)	I63N	probably benign	Het
Nrde2	A	T	12: 100,098,757 (GRCm39)	S637T	probably benign	Het
Ntn4	G	T	10: 93,543,146 (GRCm39)	G291W	probably damaging	Het
Or13a28	C	A	7: 140,217,965 (GRCm39)	T117K	probably damaging	Het
Or4d10	T	A	19: 12,051,969 (GRCm39)	E9V	possibly damaging	Het
Otof	T	A	5: 30,528,364 (GRCm39)	T1865S	probably benign	Het
Plec	A	T	15: 76,065,394 (GRCm39)	S1559T	unknown	Het
Plekhm1	C	T	11: 103,270,855 (GRCm39)		probably null	Het
Plin4	T	A	17: 56,416,357 (GRCm39)	Q49L	possibly damaging	Het
Polrmt	A	G	10: 79,573,717 (GRCm39)	F995L	probably benign	Het
Polrmt	A	G	10: 79,579,010 (GRCm39)		probably null	Het
Pramel16	A	G	4: 143,676,273 (GRCm39)	I277T	possibly damaging	Het
Pramel28	C	T	4: 143,691,556 (GRCm39)	C389Y	probably benign	Het
Rims1	T	C	1: 22,573,077 (GRCm39)	T375A	possibly damaging	Het
Ryr3	A	T	2: 112,542,774 (GRCm39)	M3145K	probably damaging	Het
S100a11	A	G	3: 93,433,339 (GRCm39)	K61R	probably benign	Het
Sar1a	A	G	10: 61,527,073 (GRCm39)	T164A	probably benign	Het
Sec31b	C	T	19: 44,532,146 (GRCm39)	A25T	probably damaging	Het
Smpd2	A	G	10: 41,363,350 (GRCm39)	V371A	probably benign	Het
Speer1g	T	A	5: 11,181,135 (GRCm39)	Y141N	possibly damaging	Het
Spg11	A	T	2: 121,905,832 (GRCm39)	L1271*	probably null	Het
Svep1	T	C	4: 58,115,862 (GRCm39)	T944A	possibly damaging	Het
Taf6	A	T	5: 138,178,207 (GRCm39)	C431*	probably null	Het
Tdrd6	A	G	17: 43,938,570 (GRCm39)	V826A	not run	Het
Tent4a	G	T	13: 69,655,047 (GRCm39)	P476T	probably damaging	Het
Tmem132a	A	G	19: 10,836,037 (GRCm39)	V831A	probably damaging	Het
Tnfrsf8	T	G	4: 144,995,685 (GRCm39)	D458A	probably damaging	Het
Trpv5	A	G	6: 41,651,590 (GRCm39)	I196T	probably damaging	Het
Ttn	T	A	2: 76,608,898 (GRCm39)	D17706V	probably damaging	Het
Uimc1	T	C	13: 55,223,444 (GRCm39)	Y276C	probably damaging	Het
Usp24	T	A	4: 106,236,276 (GRCm39)	I988K	probably damaging	Het
Vmn2r74	T	A	7: 85,606,279 (GRCm39)	R356*	probably null	Het
Wdr37	A	T	13: 8,869,971 (GRCm39)	H429Q	probably damaging	Het
Wwc2	A	T	8: 48,333,185 (GRCm39)	L277Q	probably damaging	Het
Zscan12	T	A	13: 21,552,756 (GRCm39)	N193K	possibly 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
R5395:Nol6	UTSW	4	41,118,392 (GRCm39)	intron	probably benign
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
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'- GACTCAGTGGATGGAGACTG -3'
(R):5'- TGCCGATGTTACAGCTTCCAC -3'

Sequencing Primer
(F):5'- ACTGGAGGGTACAGGGC -3'
(R):5'- GATGTTACAGCTTCCACTTACAAC -3'

Posted On

2019-10-17