Mutagenetix > Incidental Mutation

Incidental Mutation 'R2357:Nol8'

247458

Institutional Source

Beutler Lab

Gene Symbol

Nol8

Ensembl Gene

ENSMUSG00000021392

Gene Name

nucleolar protein 8

Synonyms

5730412B09Rik, D13Ertd548e, 4921532D18Rik

MMRRC Submission

040339-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2357 (G1)

Quality Score

225

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 C at 49654504 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000021824] [ENSMUST00000021824] [ENSMUST00000221083] [ENSMUST00000221142] [ENSMUST00000222197] [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 null
Transcript: ENSMUST00000221083

Predicted Effect

probably null
Transcript: ENSMUST00000221142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221751

Predicted Effect

probably null
Transcript: ENSMUST00000222197

Predicted Effect

probably null
Transcript: ENSMUST00000222333

Predicted Effect

probably null
Transcript: ENSMUST00000223264

Predicted Effect

probably null
Transcript: ENSMUST00000223467

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

97% (66/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,739,500	T520K	possibly damaging	Het
9130204L05Rik	A	T	3: 91,088,426	S56R	probably benign	Het
Abca13	T	C	11: 9,297,336	L2361P	probably damaging	Het
Acsl6	T	A	11: 54,327,280	M248K	probably damaging	Het
Adam11	G	T	11: 102,774,508	V467L	probably benign	Het
Afap1	C	T	5: 35,984,274	H501Y	probably damaging	Het
Ankrd28	A	T	14: 31,764,294	Y22*	probably null	Het
Ccdc124	A	T	8: 70,868,535	L187Q	probably damaging	Het
Cdc42bpa	G	A	1: 180,067,227	S324N	possibly damaging	Het
Cgnl1	T	A	9: 71,725,668	K134*	probably null	Het
Cnpy3	G	T	17: 46,751,983	S47R	probably damaging	Het
Cpne8	A	T	15: 90,619,674	L96Q	probably damaging	Het
Crisp3	A	T	17: 40,222,505	Y212N	probably damaging	Het
Cryba1	A	T	11: 77,722,601		probably benign	Het
Cyc1	A	G	15: 76,345,566	M288V	possibly damaging	Het
Dnah8	T	A	17: 30,771,872	D3296E	probably benign	Het
Dnah8	A	G	17: 30,874,935	T4668A	probably benign	Het
Dnajb6	T	A	5: 29,753,640	F113I	probably damaging	Het
Dync2h1	A	G	9: 7,081,053	I2881T	probably benign	Het
Eps8l1	T	C	7: 4,470,355	S179P	probably benign	Het
Esco2	C	A	14: 65,826,551	A395S	probably benign	Het
Evi5l	T	C	8: 4,193,113		probably benign	Het
Exoc6b	T	C	6: 84,989,339	T218A	possibly damaging	Het
Gde1	A	T	7: 118,691,591	F170L	probably benign	Het
Ggt5	A	C	10: 75,609,241	I361L	probably benign	Het
Golga3	C	T	5: 110,202,648	T683M	probably damaging	Het
Golgb1	A	G	16: 36,912,008	Q539R	probably damaging	Het
Grm2	A	G	9: 106,647,581	V645A	probably damaging	Het
Gtf2h4	A	T	17: 35,667,999	V408D	probably damaging	Het
Gucy1a2	A	T	9: 3,797,299	H583L	probably damaging	Het
Hivep2	C	T	10: 14,143,299	A1938V	probably benign	Het
Iars	T	C	13: 49,688,203	Y56H	probably damaging	Het
Il17re	A	G	6: 113,468,470	I381V	possibly damaging	Het
Klrd1	T	A	6: 129,596,909	*71K	probably null	Het
Kng1	A	T	16: 23,079,065	Y405F	possibly damaging	Het
Kptn	G	T	7: 16,125,784	C311F	probably damaging	Het
Lama5	T	C	2: 180,180,097	I2982V	probably benign	Het
Mamstr	G	T	7: 45,642,330	D35Y	probably damaging	Het
Mdc1	A	G	17: 35,847,445	D239G	probably benign	Het
Mindy3	T	G	2: 12,404,176		probably benign	Het
Mrpl39	A	T	16: 84,727,564	H204Q	probably benign	Het
Myo16	G	A	8: 10,594,905	D1746N	possibly damaging	Het
Myo5a	T	A	9: 75,201,365	M1476K	probably damaging	Het
Nol4	A	G	18: 23,039,910	S45P	probably benign	Het
Olfr1314	A	G	2: 112,092,398	I101T	possibly damaging	Het
Olfr73	A	T	2: 88,034,684	W152R	probably damaging	Het
Olfr777	C	A	10: 129,268,773	K183N	probably benign	Het
Olfr923	T	C	9: 38,828,338	S216P	probably benign	Het
Plau	T	A	14: 20,838,615	V100D	probably damaging	Het
Plpp7	T	C	2: 32,109,642	V6A	probably benign	Het
Prr14	T	C	7: 127,475,363	S356P	probably benign	Het
Rabl3	A	G	16: 37,541,931	D44G	probably null	Het
Rasa4	T	C	5: 136,091,247	V59A	probably damaging	Het
Rbm46	A	T	3: 82,864,458	D283E	probably benign	Het
Rictor	A	T	15: 6,783,562	N932I	probably damaging	Het
Rpl9-ps6	A	G	19: 32,466,343	V70A	probably benign	Het
St3gal1	A	G	15: 67,113,782	Y8H	probably benign	Het
Strn	G	A	17: 78,655,599	T745I	probably damaging	Het
Tbx15	C	T	3: 99,316,356		probably null	Het
Tbx20	T	A	9: 24,769,776	D140V	possibly damaging	Het
Ttn	A	C	2: 76,836,579	Y42*	probably null	Het
Usp9y	G	A	Y: 1,394,050	T560I	possibly damaging	Het
Vmn2r111	A	G	17: 22,559,170		probably benign	Het
Vps13d	GG	GGGGGG	4: 145,074,977		probably null	Het
Wfdc12	A	T	2: 164,190,250	I40N	probably damaging	Het
Zfp78	G	A	7: 6,379,057	G369R	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
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
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'- TTGGCACAGAAGTTTCAGGGG -3'
(R):5'- TCCTGATTGTTAGTGACACTCTAC -3'

Sequencing Primer
(F):5'- CAGGGGAAAGAGTTGTGTTAAATTTC -3'
(R):5'- GTTGACTCCGAAAATTCAAAGTACAG -3'

Posted On

2014-11-11