Mutagenetix > Incidental Mutation

Incidental Mutation 'R1464:Nol8'

200988

Institutional Source

Beutler Lab

Gene Symbol

Nol8

Ensembl Gene

ENSMUSG00000021392

Gene Name

nucleolar protein 8

Synonyms

5730412B09Rik, D13Ertd548e, 4921532D18Rik

MMRRC Submission

039518-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1464 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49653078-49679016 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 49676788 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 1116 (S1116N)

Ref Sequence

ENSEMBL: ENSMUSP00000152878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021824] [ENSMUST00000221142] [ENSMUST00000222197] [ENSMUST00000223467]

AlphaFold

Q3UHX0

Predicted Effect

probably benign
Transcript: ENSMUST00000021824
AA Change: S1134N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: S1134N

Domain	Start	End	E-Value	Type
RRM	27	103	3.02e-9	SMART
low complexity region	315	327	N/A	INTRINSIC
low complexity region	454	468	N/A	INTRINSIC
low complexity region	712	724	N/A	INTRINSIC
low complexity region	804	816	N/A	INTRINSIC
low complexity region	836	849	N/A	INTRINSIC
coiled coil region	886	916	N/A	INTRINSIC
coiled coil region	955	981	N/A	INTRINSIC
low complexity region	1080	1093	N/A	INTRINSIC
low complexity region	1152	1164	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221142
AA Change: S1116N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221328

Predicted Effect

probably benign
Transcript: ENSMUST00000222197
AA Change: S1134N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000223467
AA Change: S1116N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	G	2: 111,225,403		probably null	Het
6030469F06Rik	A	G	12: 31,184,915		noncoding transcript	Het
Abca2	T	G	2: 25,447,834		probably benign	Het
Adamts8	T	A	9: 30,951,377	W86R	probably benign	Het
Adh1	A	G	3: 138,288,747		probably null	Het
Adipor2	A	T	6: 119,361,843	W150R	probably damaging	Het
Aff4	T	A	11: 53,372,524	S124T	probably damaging	Het
Ahnak	G	T	19: 9,004,896	K1181N	probably damaging	Het
Ak2	C	A	4: 129,002,359		probably benign	Het
Alkbh5	A	G	11: 60,539,047	I209V	probably benign	Het
Ankrd11	T	C	8: 122,892,724	E1442G	probably damaging	Het
Apba2	T	A	7: 64,695,549	D162E	probably benign	Het
Asic3	G	A	5: 24,413,821	G37E	probably damaging	Het
AU040320	A	T	4: 126,792,031	K133N	possibly damaging	Het
C1qtnf7	A	G	5: 43,609,139	S34G	probably benign	Het
Carf	A	G	1: 60,125,906		probably benign	Het
Ccdc148	T	A	2: 58,906,362	R463*	probably null	Het
Ccdc148	T	C	2: 58,934,443	R329G	probably damaging	Het
Ccdc185	A	G	1: 182,748,698	I142T	probably benign	Het
Cd274	T	C	19: 29,382,592		probably benign	Het
Chrna10	G	A	7: 102,114,247	P114S	probably damaging	Het
Chst10	A	G	1: 38,865,691	I311T	probably damaging	Het
Cpne9	T	C	6: 113,294,737	Y353H	probably damaging	Het
Cubn	G	T	2: 13,325,288	A2594E	possibly damaging	Het
Cyp3a13	T	C	5: 137,905,565	N277S	possibly damaging	Het
Dctn4	A	G	18: 60,538,406	T117A	probably damaging	Het
Ddah1	A	T	3: 145,853,274	K96*	probably null	Het
Ddx5	A	C	11: 106,784,885	D326E	probably benign	Het
Dlg2	T	C	7: 91,968,198	S323P	probably damaging	Het
Dnaaf1	C	T	8: 119,579,310	H109Y	probably damaging	Het
Dnah8	C	A	17: 30,695,173	R1098S	possibly damaging	Het
Dnajc13	T	C	9: 104,214,167	T642A	probably benign	Het
Dnajc18	A	G	18: 35,680,847	S290P	possibly damaging	Het
Dscam	T	A	16: 96,801,253	H663L	possibly damaging	Het
Eefsec	C	T	6: 88,376,200		probably benign	Het
Emc1	A	G	4: 139,370,937	N740S	probably damaging	Het
Enpp2	C	T	15: 54,863,812	G541D	probably damaging	Het
Fam234b	C	T	6: 135,228,492	T485I	probably benign	Het
Fbxl13	A	T	5: 21,483,991	I773K	probably benign	Het
Fmo4	A	G	1: 162,794,355	F429S	possibly damaging	Het
Fndc3b	A	G	3: 27,440,185		probably benign	Het
Frem1	T	C	4: 83,011,879	S277G	probably damaging	Het
Gaa	A	G	11: 119,272,984	I221V	probably benign	Het
Gm12794	T	A	4: 101,941,306	L158Q	probably damaging	Het
Gm6614	C	T	6: 141,992,517	W225*	probably null	Het
Gnptab	A	G	10: 88,445,754		probably benign	Het
Gphn	T	A	12: 78,612,964		probably benign	Het
H2afy	A	T	13: 56,083,136	S310T	probably damaging	Het
Helz2	T	C	2: 181,239,654	E345G	probably damaging	Het
Ifna4	G	T	4: 88,842,000	R47I	probably damaging	Het
Igsf21	C	A	4: 140,034,525	A281S	probably benign	Het
Ikzf3	T	A	11: 98,516,905	I37L	probably benign	Het
Inpp5d	A	T	1: 87,698,105		probably benign	Het
Jag1	T	C	2: 137,115,648	E48G	probably damaging	Het
Jarid2	G	T	13: 44,848,381	V57F	probably damaging	Het
Kcnj4	A	G	15: 79,485,404	L125P	probably damaging	Het
Kif21b	A	G	1: 136,156,153	K713E	possibly damaging	Het
Layn	T	A	9: 51,057,586	S286C	probably damaging	Het
Lepr	T	A	4: 101,735,681	D164E	probably benign	Het
Map3k1	T	C	13: 111,755,871	H950R	possibly damaging	Het
Map4k5	C	A	12: 69,805,350	V801L	possibly damaging	Het
Mapkbp1	T	A	2: 120,021,261	S895T	probably benign	Het
Mthfr	T	A	4: 148,053,572		probably benign	Het
Naca	T	A	10: 128,048,288	M2157K	probably damaging	Het
Nav2	T	C	7: 49,362,204	I61T	probably damaging	Het
Nkx2-5	C	A	17: 26,839,279	A234S	probably benign	Het
Nphp3	T	C	9: 104,031,879		probably benign	Het
Nppa	T	C	4: 148,000,847	S5P	probably benign	Het
Nup210	A	G	6: 91,053,569	V123A	possibly damaging	Het
Olfr532	G	T	7: 140,419,373	N133K	probably benign	Het
Osbpl11	A	G	16: 33,229,085	K604R	probably damaging	Het
Osbpl1a	C	T	18: 12,914,558	S113N	probably benign	Het
P2rx4	C	A	5: 122,714,539	P92Q	probably damaging	Het
Pde9a	A	T	17: 31,473,162	Q148L	probably benign	Het
Phf21b	T	A	15: 84,804,959	H122L	probably damaging	Het
Pik3ca	T	A	3: 32,461,841	F977I	probably damaging	Het
Pkd1l3	A	G	8: 109,636,427		probably benign	Het
Pp2d1	T	G	17: 53,515,987	K17T	possibly damaging	Het
Ppp4r2	A	G	6: 100,866,566	E415G	probably damaging	Het
Prkg1	A	G	19: 30,578,870	S559P	probably damaging	Het
Prss45	A	T	9: 110,840,951	Y276F	possibly damaging	Het
Ptk7	G	T	17: 46,572,591	N849K	probably damaging	Het
Rnf121	A	G	7: 102,031,575	I125T	possibly damaging	Het
Rnf17	A	G	14: 56,461,911	N502S	probably damaging	Het
Sap25	T	A	5: 137,642,360	Y167*	probably null	Het
Sdk2	G	A	11: 113,830,080	T1341I	possibly damaging	Het
Sgcb	A	G	5: 73,635,553	V302A	probably benign	Het
Skor1	T	A	9: 63,140,111	M865L	possibly damaging	Het
Slc25a45	T	C	19: 5,879,900		probably benign	Het
Slc2a3	A	G	6: 122,737,310		probably benign	Het
Slc35g1	C	A	19: 38,403,217	L316I	probably benign	Het
Spint4	T	A	2: 164,698,648	L33H	probably damaging	Het
Sptlc3	A	T	2: 139,547,234	D178V	probably benign	Het
Stoml1	A	G	9: 58,260,426		probably benign	Het
Tbc1d2	T	A	4: 46,606,491	Y818F	possibly damaging	Het
Tbc1d24	A	T	17: 24,181,223		probably null	Het
Teddm2	C	T	1: 153,850,531	W146*	probably null	Het
Ttn	T	A	2: 76,758,994	D12948V	probably damaging	Het
Txndc8	T	C	4: 58,000,274	T102A	probably damaging	Het
Uxs1	G	A	1: 43,764,916	Q280*	probably null	Het
Vmn1r167	T	C	7: 23,505,256	T112A	possibly damaging	Het
Vmn1r195	A	T	13: 22,279,178	I273L	probably benign	Het
Vmn1r28	T	A	6: 58,265,232	M20K	probably benign	Het
Vmn1r53	G	A	6: 90,223,932	L137F	probably benign	Het
Vmn2r105	G	A	17: 20,228,742		probably benign	Het
Vps13b	C	T	15: 35,709,484	A1859V	probably benign	Het
Vwa5b2	A	G	16: 20,596,269	H347R	probably benign	Het
Wnk2	G	A	13: 49,081,975	P655S	probably damaging	Het
Zan	T	G	5: 137,419,929	D2969A	unknown	Het
Zbtb24	A	G	10: 41,455,079	H334R	probably damaging	Het
Zfp108	A	G	7: 24,260,548	D188G	probably benign	Het
Zfp784	A	T	7: 5,035,801	C253S	possibly damaging	Het
Zfr	T	G	15: 12,146,372	C336W	probably damaging	Het

Other mutations in Nol8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Nol8	APN	13	49662228	missense	probably benign	0.01
IGL01106:Nol8	APN	13	49654481	missense	possibly damaging	0.46
IGL01413:Nol8	APN	13	49659952	missense	possibly damaging	0.82
IGL01540:Nol8	APN	13	49661670	missense	probably benign	0.06
IGL01670:Nol8	APN	13	49661308	missense	possibly damaging	0.54
IGL01672:Nol8	APN	13	49675407	missense	possibly damaging	0.95
IGL02032:Nol8	APN	13	49672772	missense	probably benign
IGL02212:Nol8	APN	13	49662150	missense	possibly damaging	0.87
IGL02323:Nol8	APN	13	49655245	splice site	probably benign
IGL02645:Nol8	APN	13	49665471	critical splice donor site	probably null
IGL02949:Nol8	APN	13	49662402	missense	probably benign	0.01
IGL02954:Nol8	APN	13	49661172	missense	probably benign	0.01
IGL03182:Nol8	APN	13	49664081	missense	probably damaging	1.00
IGL03406:Nol8	APN	13	49661568	missense	probably damaging	1.00
P0047:Nol8	UTSW	13	49654348	splice site	probably null
R0092:Nol8	UTSW	13	49662447	missense	possibly damaging	0.54
R0099:Nol8	UTSW	13	49672689	missense	probably benign
R0145:Nol8	UTSW	13	49662447	missense	possibly damaging	0.54
R0269:Nol8	UTSW	13	49654445	missense	possibly damaging	0.49
R0370:Nol8	UTSW	13	49662447	missense	possibly damaging	0.54
R0374:Nol8	UTSW	13	49662447	missense	possibly damaging	0.54
R0390:Nol8	UTSW	13	49662152	missense	probably damaging	1.00
R0617:Nol8	UTSW	13	49654445	missense	possibly damaging	0.49
R0635:Nol8	UTSW	13	49676758	missense	probably benign	0.05
R0637:Nol8	UTSW	13	49662447	missense	possibly damaging	0.54
R1246:Nol8	UTSW	13	49676769	missense	probably damaging	1.00
R1446:Nol8	UTSW	13	49655227	missense	probably damaging	1.00
R1464:Nol8	UTSW	13	49676788	missense	probably benign
R1627:Nol8	UTSW	13	49661504	missense	probably benign	0.01
R1703:Nol8	UTSW	13	49667457	missense	possibly damaging	0.65
R1751:Nol8	UTSW	13	49667408	missense	probably benign	0.06
R2187:Nol8	UTSW	13	49661999	missense	probably benign	0.00
R2357:Nol8	UTSW	13	49654504	critical splice donor site	probably null
R3081:Nol8	UTSW	13	49678392	unclassified	probably benign
R3969:Nol8	UTSW	13	49660016	nonsense	probably null
R4199:Nol8	UTSW	13	49661748	missense	possibly damaging	0.65
R4720:Nol8	UTSW	13	49662753	missense	probably damaging	1.00
R4927:Nol8	UTSW	13	49654425	missense	possibly damaging	0.79
R5177:Nol8	UTSW	13	49661112	missense	probably benign	0.32
R5512:Nol8	UTSW	13	49676787	missense	probably benign
R5744:Nol8	UTSW	13	49662326	missense	possibly damaging	0.82
R5988:Nol8	UTSW	13	49672614	missense	possibly damaging	0.58
R6048:Nol8	UTSW	13	49653684	critical splice donor site	probably null
R6306:Nol8	UTSW	13	49676353	missense	probably damaging	1.00
R6359:Nol8	UTSW	13	49664070	missense	probably benign	0.16
R6378:Nol8	UTSW	13	49667355	missense	probably damaging	1.00
R6655:Nol8	UTSW	13	49654392	missense	probably damaging	1.00
R7035:Nol8	UTSW	13	49661202	missense	probably benign	0.06
R7058:Nol8	UTSW	13	49676386	missense	probably damaging	1.00
R7368:Nol8	UTSW	13	49661219	missense	probably benign	0.00
R7450:Nol8	UTSW	13	49660015	missense	probably benign	0.01
R7673:Nol8	UTSW	13	49664780	missense	probably benign	0.15
R7750:Nol8	UTSW	13	49662266	missense	possibly damaging	0.83
R8246:Nol8	UTSW	13	49655248	splice site	probably benign
R9081:Nol8	UTSW	13	49661405	missense	probably benign	0.00
R9127:Nol8	UTSW	13	49661999	missense	probably benign	0.00
R9223:Nol8	UTSW	13	49661262	missense	possibly damaging	0.63
X0020:Nol8	UTSW	13	49661165	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCATTCAGTGGTGTGGGACAAGG -3'
(R):5'- GTCAGTCAAGTCAATCTGCCCTCC -3'

Sequencing Primer
(F):5'- TACATTCTGAGGGCCAAGTG -3'
(R):5'- ctcccttccttccttccttc -3'

Posted On

2014-05-23