Mutagenetix > Incidental Mutation

Incidental Mutation 'R6048:Nol8'

483410

Institutional Source

Beutler Lab

Gene Symbol

Nol8

Ensembl Gene

ENSMUSG00000021392

Gene Name

nucleolar protein 8

Synonyms

5730412B09Rik, D13Ertd548e, 4921532D18Rik

MMRRC Submission

044216-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49653078-49679016 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 49653684 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000021824] [ENSMUST00000021824] [ENSMUST00000221083] [ENSMUST00000221142] [ENSMUST00000221142] [ENSMUST00000222197] [ENSMUST00000222197] [ENSMUST00000222333] [ENSMUST00000222333] [ENSMUST00000223264] [ENSMUST00000223467]

AlphaFold

Q3UHX0

Predicted Effect

probably benign
Transcript: ENSMUST00000021818

SMART Domains

Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391

Domain	Start	End	E-Value	Type
coiled coil region	1	34	N/A	INTRINSIC
Pfam:CENP-P	102	278	3.9e-89	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000021824

SMART Domains

Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392

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 null
Transcript: ENSMUST00000021824

SMART Domains

Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392

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: ENSMUST00000221083

Predicted Effect

probably null
Transcript: ENSMUST00000221142

Predicted Effect

probably null
Transcript: ENSMUST00000221142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221751

Predicted Effect

probably null
Transcript: ENSMUST00000222197

Predicted Effect

probably null
Transcript: ENSMUST00000222197

Predicted Effect

probably null
Transcript: ENSMUST00000222333

Predicted Effect

probably null
Transcript: ENSMUST00000222333

Predicted Effect

probably benign
Transcript: ENSMUST00000223264

Predicted Effect

probably benign
Transcript: ENSMUST00000223467

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

98% (60/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,240,325	F39L	probably damaging	Het
Aldh1a2	T	C	9: 71,261,767	I177T	probably damaging	Het
Arl4c	A	G	1: 88,701,628	S13P	possibly damaging	Het
Bst1	G	T	5: 43,818,964		probably benign	Het
Carmil3	G	A	14: 55,503,845	R1029Q	probably benign	Het
Cflar	A	G	1: 58,741,043	T269A	probably benign	Het
Clcnka	T	A	4: 141,394,487	Y236F	probably damaging	Het
Clmp	T	A	9: 40,771,109	I63N	probably damaging	Het
Cln6	T	C	9: 62,844,626	L44P	probably damaging	Het
Col5a3	C	T	9: 20,807,619	A280T	unknown	Het
Dact2	A	G	17: 14,197,305	L211P	probably damaging	Het
Dclk2	G	T	3: 86,905,965	Q225K	probably damaging	Het
Ddx60	T	C	8: 62,000,582	F1245S	probably benign	Het
Eif3i	T	C	4: 129,593,352	N240S	probably benign	Het
Enpp1	T	C	10: 24,660,254	Y416C	probably damaging	Het
Epb42	T	A	2: 121,024,408	R565S	probably benign	Het
Eral1	G	A	11: 78,075,783	P217L	probably benign	Het
Fbxl16	A	G	17: 25,816,993	Y188C	probably benign	Het
Fgd3	G	A	13: 49,273,748	P503S	probably benign	Het
Frem3	T	C	8: 80,613,433	L785P	probably benign	Het
Gadl1	A	G	9: 116,006,701		probably null	Het
Gm10787	C	T	10: 77,021,842		noncoding transcript	Het
Gm11639	A	G	11: 104,944,433	K3540E	unknown	Het
Gm17359	T	C	3: 79,405,885	S89P	probably damaging	Het
Gm6563	A	G	19: 23,675,882	K12R	probably benign	Het
Grm5	T	C	7: 88,026,550	L424P	probably damaging	Het
Hist1h2ag	A	G	13: 22,042,836	V31A	probably benign	Het
Il17re	T	C	6: 113,470,108	S607P	possibly damaging	Het
Ints7	A	G	1: 191,621,412		probably benign	Het
Itih1	A	G	14: 30,929,823	M854T	possibly damaging	Het
Kif1b	A	G	4: 149,263,629	L315P	probably damaging	Het
Ms4a6b	T	C	19: 11,520,370	V11A	possibly damaging	Het
Mxd1	C	A	6: 86,650,984	D191Y	probably damaging	Het
Ntn4	T	A	10: 93,707,266		probably null	Het
Nxph1	A	T	6: 9,247,103	T25S	probably benign	Het
Olfr1344	A	C	7: 6,440,355	T152P	possibly damaging	Het
Olfr202	C	T	16: 59,283,979	V173I	probably benign	Het
Olfr351	A	G	2: 36,859,841	V169A	probably benign	Het
Olfr410	A	T	11: 74,335,135	I32K	probably benign	Het
Olfr583	A	G	7: 103,051,319	N7S	probably benign	Het
Olfr818	A	G	10: 129,945,826	F79L	possibly damaging	Het
Oxsm	T	A	14: 16,242,308	M154L	possibly damaging	Het
Papolg	A	C	11: 23,891,815	I36S	probably benign	Het
Pde3b	T	A	7: 114,508,267	H544Q	probably benign	Het
Pdzd2	A	T	15: 12,592,570		probably null	Het
Prkce	C	A	17: 86,493,347	P397Q	probably benign	Het
Ralgapa2	T	C	2: 146,434,845	S492G	possibly damaging	Het
Rnf216	A	G	5: 143,068,904	Y630H	probably damaging	Het
Ruvbl1	C	T	6: 88,482,991	T211I	possibly damaging	Het
Scyl2	A	T	10: 89,645,486	D666E	probably benign	Het
Sertad2	A	G	11: 20,648,436	T211A	probably benign	Het
Sipa1l1	A	T	12: 82,440,869	Q1639L	probably benign	Het
Snx5	T	C	2: 144,259,153	D98G	probably damaging	Het
Sorcs2	G	T	5: 36,027,988		probably null	Het
Tanc2	G	A	11: 105,867,717	R768Q	probably damaging	Het
Tmem132d	A	G	5: 128,269,117	S114P	probably benign	Het
Tns2	G	A	15: 102,111,411	G579R	probably damaging	Het
Usp37	A	T	1: 74,478,136		probably null	Het
Vmn1r79	T	C	7: 12,176,521	I110T	probably damaging	Het
Vps37a	C	T	8: 40,528,322	L69F	probably damaging	Het
Xirp2	T	A	2: 67,508,243	I276N	possibly damaging	Het
Zfp946	G	A	17: 22,454,840	E192K	probably benign	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
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
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'- GCTACCAAGAAGGGGTACACTG -3'
(R):5'- CGCTGTTAAATCACAAAGACGG -3'

Sequencing Primer
(F):5'- GAAGGAGACAGCCAACTT -3'
(R):5'- ACCTAAAATATGTTTCCCCACTGTG -3'

Posted On

2017-07-14