Mutagenetix > Incidental Mutation

Incidental Mutation 'R9571:Nol6'

721975

Institutional Source

Beutler Lab

Gene Symbol

Nol6

Ensembl Gene

ENSMUSG00000028430

Gene Name

nucleolar protein family 6 (RNA-associated)

Synonyms

Nrap

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R9571 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41114427-41124450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41120156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 491 (S491T)

Ref Sequence

ENSEMBL: ENSMUSP00000030138 (fasta)

Gene Model

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

AlphaFold

Q8R5K4

Predicted Effect

probably benign
Transcript: ENSMUST00000030138
AA Change: S491T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030138
Gene: ENSMUSG00000028430
AA Change: S491T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	G	2: 130,247,482 (GRCm39)	D6G	probably benign	Het
Abl2	T	G	1: 156,469,084 (GRCm39)	S783A	probably damaging	Het
Adamtsl1	A	T	4: 86,117,543 (GRCm39)	T169S	probably benign	Het
Adcy9	A	G	16: 4,141,653 (GRCm39)	V621A	probably benign	Het
Ahnak2	T	C	12: 112,742,510 (GRCm39)	S521G	possibly damaging	Het
Ap2m1	G	A	16: 20,360,037 (GRCm39)	G213R	probably damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arl4d	T	C	11: 101,558,032 (GRCm39)	M186T	possibly damaging	Het
Cep192	A	G	18: 67,952,109 (GRCm39)	D428G	probably damaging	Het
Ckap5	A	C	2: 91,387,953 (GRCm39)	D266A	probably damaging	Het
Crls1	A	T	2: 132,691,793 (GRCm39)	N106I	probably damaging	Het
Csmd3	T	A	15: 48,655,398 (GRCm39)		probably benign	Het
Csnk1a1	A	G	18: 61,704,969 (GRCm39)	R161G	possibly damaging	Het
Cyp4f39	T	A	17: 32,702,196 (GRCm39)	I231N	probably damaging	Het
Ddx31	T	A	2: 28,750,034 (GRCm39)	V352D	probably damaging	Het
Dna2	A	G	10: 62,800,740 (GRCm39)	D758G	probably damaging	Het
Duxf4	G	A	10: 58,071,378 (GRCm39)	L279F	possibly damaging	Het
Gatad2a	C	A	8: 70,370,381 (GRCm39)	A172S	probably benign	Het
Ghsr	G	T	3: 27,426,664 (GRCm39)	R240L	probably benign	Het
Gli3	T	A	13: 15,900,858 (GRCm39)	M1415K	probably benign	Het
Glo1	G	A	17: 30,816,835 (GRCm39)	T107I	possibly damaging	Het
Gm10800	AAAGAAAACTGAA	ACAAGAAAACTGAA	2: 98,497,378 (GRCm39)		probably null	Het
Gm17334	C	T	11: 53,663,760 (GRCm39)	V34M	unknown	Het
Habp4	T	A	13: 64,322,615 (GRCm39)	M228K	probably benign	Het
Hacl1	A	G	14: 31,344,838 (GRCm39)	V257A	possibly damaging	Het
Ift122	T	G	6: 115,857,628 (GRCm39)	S125A	possibly damaging	Het
Iqce	C	T	5: 140,651,862 (GRCm39)	D704N	possibly damaging	Het
Jcad	T	A	18: 4,673,252 (GRCm39)	L338*	probably null	Het
Kcnj13	T	C	1: 87,316,849 (GRCm39)	D88G	probably damaging	Het
Kif1b	T	C	4: 149,305,098 (GRCm39)	D942G	probably damaging	Het
Marchf8	T	A	6: 116,383,237 (GRCm39)	S271T	probably benign	Het
Meis1	A	G	11: 18,961,378 (GRCm39)	L165S	probably damaging	Het
Morc2b	T	A	17: 33,355,178 (GRCm39)	T865S	probably benign	Het
Morc3	T	A	16: 93,641,107 (GRCm39)	N46K	possibly damaging	Het
Mpzl1	C	T	1: 165,429,374 (GRCm39)	C219Y	probably benign	Het
Mup5	A	G	4: 61,750,787 (GRCm39)		probably null	Het
Ninl	A	T	2: 150,791,803 (GRCm39)	W907R	probably benign	Het
Or4f53	A	T	2: 111,088,083 (GRCm39)	I208F	probably benign	Het
Or51g1	A	G	7: 102,634,221 (GRCm39)	V50A	probably benign	Het
Or5b121	T	A	19: 13,507,697 (GRCm39)	I264N	probably damaging	Het
Or6c205	C	A	10: 129,087,182 (GRCm39)	P260T	possibly damaging	Het
Osbpl6	T	A	2: 76,425,191 (GRCm39)	M919K	probably benign	Het
Otogl	A	T	10: 107,598,364 (GRCm39)	V2262E	possibly damaging	Het
Pcbp2	A	G	15: 102,383,113 (GRCm39)	D77G	possibly damaging	Het
Pcsk7	G	A	9: 45,820,907 (GRCm39)	R113Q	possibly damaging	Het
Pds5b	T	C	5: 150,645,971 (GRCm39)	I143T	probably damaging	Het
Polr2m	T	C	9: 71,386,710 (GRCm39)	E357G	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Ptprt	A	G	2: 161,395,732 (GRCm39)	V1167A	probably benign	Het
Rbm11	G	A	16: 75,397,543 (GRCm39)	E158K	possibly damaging	Het
Sall2	A	T	14: 52,551,830 (GRCm39)	V455E	probably damaging	Het
Sar1b	T	A	11: 51,680,064 (GRCm39)	L130Q	probably damaging	Het
Slc35f6	A	G	5: 30,815,180 (GRCm39)	N369S	possibly damaging	Het
Slc39a12	A	T	2: 14,412,380 (GRCm39)	M351L	probably benign	Het
Taf15	T	A	11: 83,395,487 (GRCm39)	Y397*	probably null	Het
Tmprss11e	A	T	5: 86,875,149 (GRCm39)	V39D	probably damaging	Het
Trim71	T	C	9: 114,342,359 (GRCm39)	D641G	probably damaging	Het
Trpc3	T	A	3: 36,694,909 (GRCm39)	T682S	probably damaging	Het
Tsen54	T	C	11: 115,707,933 (GRCm39)		probably null	Het
Usp6nl	A	G	2: 6,445,960 (GRCm39)	N646D	possibly damaging	Het
Vip	T	C	10: 5,590,661 (GRCm39)	F12L	probably benign	Het
Vmn1r39	A	T	6: 66,781,572 (GRCm39)	F249I	probably benign	Het
Vmn2r106	A	T	17: 20,505,641 (GRCm39)	S18T	probably benign	Het
Vmn2r97	G	T	17: 19,149,919 (GRCm39)	V436L	probably benign	Het
Washc2	T	C	6: 116,237,631 (GRCm39)		probably null	Het
Ykt6	T	C	11: 5,914,613 (GRCm39)	V171A	possibly damaging	Het
Zfp658	A	G	7: 43,222,139 (GRCm39)	D138G	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
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
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'- CAACTTCCCAGTCTACAGGGTC -3'
(R):5'- CGAGGCAGAACTGTCTATGG -3'

Sequencing Primer
(F):5'- AGTCTACAGGGTCTCACCTCTGG -3'
(R):5'- AGCTGACGATGGATTTCAGC -3'

Posted On

2022-08-09