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: 0.959) question?

Stock #

R0632 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41114427-41124450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41121115 bp (GRCm39)

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
Acaa1a	T	A	9: 119,176,884 (GRCm39)		probably benign	Het
Adgrg7	T	A	16: 56,562,952 (GRCm39)	T462S	possibly damaging	Het
Akap6	A	T	12: 52,983,931 (GRCm39)	N825I	probably damaging	Het
Ankib1	T	A	5: 3,822,529 (GRCm39)	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167 (GRCm39)	S633G	possibly damaging	Het
Ap4e1	C	A	2: 126,891,200 (GRCm39)	Y522*	probably null	Het
Art5	G	A	7: 101,747,164 (GRCm39)	T205I	probably damaging	Het
Ascc2	T	A	11: 4,599,855 (GRCm39)	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,117,026 (GRCm39)	D529G	probably benign	Het
C2cd4a	T	C	9: 67,738,845 (GRCm39)	E66G	probably benign	Het
C8a	T	C	4: 104,713,689 (GRCm39)	D147G	probably damaging	Het
Ccdc14	T	C	16: 34,542,019 (GRCm39)	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,432,749 (GRCm39)		probably benign	Het
Cfap54	C	T	10: 92,720,958 (GRCm39)	E2543K	unknown	Het
Cldn13	C	T	5: 134,943,601 (GRCm39)	E195K	probably benign	Het
Cp	A	G	3: 20,025,246 (GRCm39)	S402G	probably null	Het
Cpa3	T	C	3: 20,279,358 (GRCm39)	T194A	probably benign	Het
Crygf	C	A	1: 65,967,156 (GRCm39)	Y93*	probably null	Het
Ctsh	A	G	9: 89,943,635 (GRCm39)	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 26,857,671 (GRCm39)	D428G	possibly damaging	Het
Dnah17	C	G	11: 117,958,508 (GRCm39)		probably benign	Het
Dnah3	A	G	7: 119,567,128 (GRCm39)	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,643,432 (GRCm39)	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,405,403 (GRCm39)		probably benign	Het
Dst	G	T	1: 34,310,494 (GRCm39)	R4098L	probably damaging	Het
Efhb	A	G	17: 53,720,487 (GRCm39)		probably benign	Het
Epha7	A	T	4: 28,821,104 (GRCm39)	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,328,707 (GRCm39)	D684V	probably damaging	Het
Fan1	A	G	7: 64,012,947 (GRCm39)	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,170,819 (GRCm39)	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,120,692 (GRCm39)	A2V	probably benign	Het
G6pd2	A	G	5: 61,967,514 (GRCm39)	N430D	probably benign	Het
Gm13547	T	A	2: 29,651,596 (GRCm39)	D7E	possibly damaging	Het
H4c9	G	T	13: 22,225,197 (GRCm39)	Y99*	probably null	Het
Hdac5	A	T	11: 102,096,638 (GRCm39)	D260E	probably damaging	Het
Hsf2bp	T	C	17: 32,232,320 (GRCm39)	E142G	probably damaging	Het
Igf1r	C	T	7: 67,814,903 (GRCm39)	T268I	probably damaging	Het
Inava	T	C	1: 136,155,356 (GRCm39)	D83G	probably benign	Het
Kcne3	C	T	7: 99,833,646 (GRCm39)	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,628,796 (GRCm39)	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,751,462 (GRCm39)		probably benign	Het
Lama1	C	T	17: 68,059,363 (GRCm39)		probably benign	Het
Lcp2	C	T	11: 34,032,426 (GRCm39)	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,680,231 (GRCm39)	N2047K	probably damaging	Het
Mcub	T	C	3: 129,712,375 (GRCm39)	M167V	probably benign	Het
Mia2	T	C	12: 59,182,929 (GRCm39)	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032 (GRCm39)	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077 (GRCm39)	I460F	possibly damaging	Het
Msh4	A	G	3: 153,602,532 (GRCm39)	I232T	probably damaging	Het
Msra	T	A	14: 64,447,981 (GRCm39)	M145L	probably benign	Het
Myo7a	A	T	7: 97,761,357 (GRCm39)		probably benign	Het
Nme8	A	T	13: 19,842,206 (GRCm39)	N422K	probably damaging	Het
Nphp3	A	G	9: 103,895,473 (GRCm39)	K384E	probably damaging	Het
Or51h5	C	T	7: 102,577,811 (GRCm39)		probably null	Het
Or52e15	A	G	7: 104,645,910 (GRCm39)	I67T	probably benign	Het
Or52h7	A	G	7: 104,213,544 (GRCm39)	I39V	probably benign	Het
Phox2b	T	G	5: 67,253,557 (GRCm39)		probably benign	Het
Plec	A	T	15: 76,057,611 (GRCm39)	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,451,654 (GRCm39)		probably benign	Het
Pramel31	G	A	4: 144,090,352 (GRCm39)	C464Y	probably damaging	Het
Prpf40b	A	G	15: 99,214,170 (GRCm39)	E810G	probably benign	Het
Ptprc	C	T	1: 138,001,348 (GRCm39)	V965I	probably benign	Het
Pum1	T	A	4: 130,455,415 (GRCm39)	M180K	probably benign	Het
Ranbp3	T	C	17: 57,009,896 (GRCm39)		probably benign	Het
Rasgrf2	A	G	13: 92,120,393 (GRCm39)	S787P	probably benign	Het
Rnf19b	T	A	4: 128,967,344 (GRCm39)	N294K	probably damaging	Het
Samd3	A	T	10: 26,120,393 (GRCm39)	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 34,064,014 (GRCm39)	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,015,906 (GRCm39)	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,277,500 (GRCm39)	F279Y	probably damaging	Het
Slc6a2	T	A	8: 93,719,429 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tab2	A	G	10: 7,795,565 (GRCm39)	S232P	probably benign	Het
Tacc2	A	T	7: 130,227,325 (GRCm39)	K1356*	probably null	Het
Tmem87a	A	G	2: 120,190,023 (GRCm39)	S544P	probably damaging	Het
Trim52	T	A	14: 106,344,401 (GRCm39)	C20S	probably damaging	Het
Usp38	A	T	8: 81,740,779 (GRCm39)	V96E	probably benign	Het
Vmn2r59	T	C	7: 41,708,308 (GRCm39)	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,113,561 (GRCm39)	V171G	probably damaging	Het
Zfp957	T	A	14: 79,450,360 (GRCm39)	I480F	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
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

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