Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:Nol6'

59691

Institutional Source

Beutler Lab

Gene Symbol

Nol6

Ensembl Gene

ENSMUSG00000028430

Gene Name

nucleolar protein family 6 (RNA-associated)

Synonyms

Nrap

MMRRC Submission

038821-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R0632 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41114427-41124455 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41121115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 353 (F353I)

Ref Sequence

ENSEMBL: ENSMUSP00000030138 (fasta)

Gene Model

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

AlphaFold

Q8R5K4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030138
AA Change: F353I

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030138
Gene: ENSMUSG00000028430
AA Change: F353I

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

Meta Mutation Damage Score

0.6913

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,227,618	D83G	probably benign	Het
Acaa1a	T	A	9: 119,347,818		probably benign	Het
Adgrg7	T	A	16: 56,742,589	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280	Y522*	probably null	Het
Art5	G	A	7: 102,097,957	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,298,208	D529G	probably benign	Het
C2cd4a	T	C	9: 67,831,563	E66G	probably benign	Het
C8a	T	C	4: 104,856,492	D147G	probably damaging	Het
Ccdc14	T	C	16: 34,721,649	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,482,749		probably benign	Het
Cfap54	C	T	10: 92,885,096	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747	E195K	probably benign	Het
Cp	A	G	3: 19,971,082	S402G	probably null	Het
Cpa3	T	C	3: 20,225,194	T194A	probably benign	Het
Crygf	C	A	1: 65,927,997	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682		probably benign	Het
Dnah3	A	G	7: 119,967,905	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346		probably benign	Het
Dst	G	T	1: 34,271,413	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459		probably benign	Het
Epha7	A	T	4: 28,821,104	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,437,881	D684V	probably damaging	Het
Fan1	A	G	7: 64,363,199	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,037,747	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584	D7E	possibly damaging	Het
Hdac5	A	T	11: 102,205,812	D260E	probably damaging	Het
Hist1h4i	G	T	13: 22,041,027	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lama1	C	T	17: 67,752,368		probably benign	Het
Lcp2	C	T	11: 34,082,426	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028	N2047K	probably damaging	Het
Mcub	T	C	3: 129,918,726	M167V	probably benign	Het
Mia2	T	C	12: 59,136,143	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077	I460F	possibly damaging	Het
Msh4	A	G	3: 153,896,895	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150		probably benign	Het
Nme8	A	T	13: 19,658,036	N422K	probably damaging	Het
Nphp3	A	G	9: 104,018,274	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604		probably null	Het
Olfr652	A	G	7: 104,564,337	I39V	probably benign	Het
Olfr672	A	G	7: 104,996,703	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214		probably benign	Het
Plec	A	T	15: 76,173,411	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,313,591		probably benign	Het
Prpf40b	A	G	15: 99,316,289	E810G	probably benign	Het
Ptprc	C	T	1: 138,073,610	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896		probably benign	Het
Rasgrf2	A	G	13: 91,972,274	S787P	probably benign	Het
Rnf19b	T	A	4: 129,073,551	N294K	probably damaging	Het
Samd3	A	T	10: 26,244,495	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641	F279Y	probably damaging	Het
Slc6a2	T	A	8: 92,992,801		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tab2	A	G	10: 7,919,801	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920	I480F	probably damaging	Het

Other mutations in Nol6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Nol6	APN	4	41123374	missense	possibly damaging	0.89
IGL00787:Nol6	APN	4	41122198	missense	probably benign	0.10
IGL01062:Nol6	APN	4	41118205	missense	probably benign	0.13
IGL01113:Nol6	APN	4	41115749	missense	probably damaging	1.00
IGL01874:Nol6	APN	4	41115412	missense	probably damaging	1.00
IGL01995:Nol6	APN	4	41118567	missense	probably damaging	1.00
IGL02060:Nol6	APN	4	41117700	missense	probably damaging	1.00
IGL03082:Nol6	APN	4	41115878	splice site	probably benign
IGL03221:Nol6	APN	4	41124166	missense	probably benign	0.00
IGL03332:Nol6	APN	4	41120735	missense	probably damaging	1.00
leaky	UTSW	4	41118154	missense	probably benign	0.02
R0066:Nol6	UTSW	4	41119572	splice site	probably benign
R0066:Nol6	UTSW	4	41119572	splice site	probably benign
R0308:Nol6	UTSW	4	41123584	missense	probably benign	0.01
R1222:Nol6	UTSW	4	41120760	missense	probably benign	0.01
R1471:Nol6	UTSW	4	41120281	missense	probably benign	0.00
R1481:Nol6	UTSW	4	41123596	missense	probably benign	0.00
R1971:Nol6	UTSW	4	41119542	missense	probably damaging	1.00
R2191:Nol6	UTSW	4	41118720	missense	probably benign	0.00
R2495:Nol6	UTSW	4	41118427	missense	probably damaging	1.00
R3852:Nol6	UTSW	4	41117452	missense	probably damaging	0.99
R3923:Nol6	UTSW	4	41121531	missense	probably benign	0.17
R4458:Nol6	UTSW	4	41115888	missense	probably damaging	1.00
R4510:Nol6	UTSW	4	41123526	missense	probably damaging	1.00
R4511:Nol6	UTSW	4	41123526	missense	probably damaging	1.00
R4575:Nol6	UTSW	4	41120299	missense	probably benign	0.00
R4637:Nol6	UTSW	4	41121788	missense	probably damaging	0.99
R4700:Nol6	UTSW	4	41118944	missense	possibly damaging	0.58
R4820:Nol6	UTSW	4	41121508	missense	probably damaging	1.00
R4975:Nol6	UTSW	4	41120167	missense	probably benign	0.00
R5395:Nol6	UTSW	4	41118392	intron	probably benign
R5826:Nol6	UTSW	4	41122158	missense	probably benign	0.04
R6531:Nol6	UTSW	4	41118154	missense	probably benign	0.02
R6943:Nol6	UTSW	4	41118962	missense	probably damaging	1.00
R7001:Nol6	UTSW	4	41121279	missense	probably benign	0.00
R7035:Nol6	UTSW	4	41118479	missense	probably benign	0.01
R7282:Nol6	UTSW	4	41119468	missense	probably benign	0.18
R7327:Nol6	UTSW	4	41116686	missense	probably benign	0.34
R7402:Nol6	UTSW	4	41118699	missense	probably damaging	1.00
R7483:Nol6	UTSW	4	41117424	missense	possibly damaging	0.92
R7505:Nol6	UTSW	4	41120352	missense	probably damaging	1.00
R7669:Nol6	UTSW	4	41118717	missense	probably damaging	0.97
R8255:Nol6	UTSW	4	41120168	missense	probably benign	0.01
R8401:Nol6	UTSW	4	41119548	missense	possibly damaging	0.87
R8426:Nol6	UTSW	4	41119870	missense	probably benign	0.36
R8826:Nol6	UTSW	4	41121823	missense	probably benign	0.26
R9228:Nol6	UTSW	4	41116422	missense	probably benign	0.42
R9259:Nol6	UTSW	4	41118229	missense	possibly damaging	0.84
R9571:Nol6	UTSW	4	41120156	missense	probably benign	0.00
R9604:Nol6	UTSW	4	41120298	missense	probably benign	0.05
R9748:Nol6	UTSW	4	41123538	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTCTGGTGGAATAAGAGAACCCC -3'
(R):5'- CGCTTGCTGCCAACTAAGAACAATG -3'

Sequencing Primer
(F):5'- CCGGGGACAAGCGGAAC -3'
(R):5'- CTAAGAACAATGTGCGCTCTG -3'

Posted On

2013-07-11