Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03332:Nol6'

416891

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nol6

Ensembl Gene

ENSMUSG00000028430

Gene Name

nucleolar protein family 6 (RNA-associated)

Synonyms

Nrap

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL03332

Quality Score

Status

Chromosome

Chromosomal Location

41114427-41124450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41120735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 405 (D405Y)

Ref Sequence

ENSEMBL: ENSMUSP00000030138 (fasta)

Gene Model

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

AlphaFold

Q8R5K4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030138
AA Change: D405Y

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

SMART Domains

Protein: ENSMUSP00000030138
Gene: ENSMUSG00000028430
AA Change: D405Y

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

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff1	C	A	5: 103,988,971 (GRCm39)	S846*	probably null	Het
Cnga2	A	G	X: 71,049,800 (GRCm39)	Y155C	probably damaging	Het
Cngb1	A	G	8: 96,025,474 (GRCm39)		probably benign	Het
Ece1	T	C	4: 137,673,666 (GRCm39)	Y405H	probably damaging	Het
Entpd5	T	C	12: 84,429,002 (GRCm39)		probably null	Het
Itpr2	T	C	6: 146,045,647 (GRCm39)	E2573G	probably damaging	Het
Katnip	T	A	7: 125,419,277 (GRCm39)	Y481*	probably null	Het
Mia2	T	A	12: 59,155,184 (GRCm39)	I300N	probably damaging	Het
Mtcl1	G	A	17: 66,645,014 (GRCm39)	P1478S	probably damaging	Het
Myo9b	A	G	8: 71,801,418 (GRCm39)	E1192G	possibly damaging	Het
Rpl4	T	C	9: 64,083,370 (GRCm39)		probably benign	Het
Rreb1	G	T	13: 38,114,892 (GRCm39)	E750D	probably benign	Het
Slc1a2	A	G	2: 102,578,879 (GRCm39)	M265V	possibly damaging	Het
Tnik	C	T	3: 28,720,304 (GRCm39)	T1254I	probably damaging	Het
Unc80	G	A	1: 66,542,790 (GRCm39)	G348D	probably damaging	Het
Wdr19	A	G	5: 65,384,486 (GRCm39)	T527A	possibly damaging	Het
Zbtb21	T	C	16: 97,753,533 (GRCm39)	E250G	possibly damaging	Het
Zbtb8b	G	A	4: 129,322,361 (GRCm39)	P367S	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
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
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

Posted On

2016-08-02