Mutagenetix > Incidental Mutation

Incidental Mutation 'R1446:Nol8'

158899

Institutional Source

Beutler Lab

Gene Symbol

Nol8

Ensembl Gene

ENSMUSG00000021392

Gene Name

nucleolar protein 8

Synonyms

5730412B09Rik, D13Ertd548e, 4921532D18Rik

MMRRC Submission

039501-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49653078-49679016 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49655227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 65 (L65Q)

Ref Sequence

ENSEMBL: ENSMUSP00000152517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021818] [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 damaging
Transcript: ENSMUST00000021824
AA Change: L83Q

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

SMART Domains

Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: L83Q

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 damaging
Transcript: ENSMUST00000221083
AA Change: L65Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000221142
AA Change: L65Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221751

Predicted Effect

probably damaging
Transcript: ENSMUST00000222197
AA Change: L83Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000222333
AA Change: L83Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223264
AA Change: L65Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223467
AA Change: L65Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	T	5: 76,886,289	A472T	probably benign	Het
Adcy4	A	T	14: 55,770,023		probably null	Het
Ahcyl2	T	C	6: 29,891,240	S448P	probably damaging	Het
Anks1b	A	G	10: 90,511,073	Y745C	probably benign	Het
Anxa1	A	T	19: 20,373,739	L339Q	probably damaging	Het
Apoa4	A	G	9: 46,242,293	D64G	probably benign	Het
Arpc1a	A	G	5: 145,101,086		probably null	Het
Bank1	C	T	3: 136,064,143	G727R	probably damaging	Het
Best2	T	C	8: 85,007,964	Q375R	probably benign	Het
Cacna1b	T	A	2: 24,706,177	M501L	probably benign	Het
Col27a1	T	A	4: 63,224,803	Y243N	probably damaging	Het
Cyp11a1	A	T	9: 58,015,277	Q80L	possibly damaging	Het
Dnah10	T	A	5: 124,789,796	W2260R	probably damaging	Het
Dnajc19	T	C	3: 34,057,979	H139R	probably benign	Het
Dppa5a	T	A	9: 78,367,789	N77I	probably benign	Het
Edc4	T	C	8: 105,888,132	S125P	probably damaging	Het
Eid2	T	C	7: 28,268,589	I212T	possibly damaging	Het
Fam234b	T	A	6: 135,209,330		probably null	Het
Frem2	T	C	3: 53,654,596	E830G	probably benign	Het
Fyb	A	T	15: 6,652,466	I765L	probably benign	Het
Fyn	T	G	10: 39,522,779	S124A	probably benign	Het
Gal3st3	T	A	19: 5,306,911	F105I	probably damaging	Het
Gm13762	A	G	2: 88,973,765	I42T	probably benign	Het
Gpr146	A	G	5: 139,393,422	I326M	probably benign	Het
Grk2	G	A	19: 4,287,409	R617C	possibly damaging	Het
Gsn	A	G	2: 35,306,586	K669R	probably benign	Het
H2-T10	A	T	17: 36,119,374	I225N	possibly damaging	Het
Il12rb2	T	C	6: 67,309,143	H106R	probably benign	Het
Kat14	A	G	2: 144,373,718	E41G	probably damaging	Het
Kcnma1	G	T	14: 23,311,724	T1006K	probably damaging	Het
Kif18b	G	A	11: 102,914,699	T244I	probably damaging	Het
Klb	A	T	5: 65,348,995	H195L	probably damaging	Het
Lrriq4	T	C	3: 30,650,578	F252L	probably benign	Het
Lum	C	T	10: 97,568,390	T49I	possibly damaging	Het
Map3k4	T	A	17: 12,256,794	L84*	probably null	Het
Mindy2	A	G	9: 70,607,456		probably null	Het
Mpped2	G	T	2: 106,783,732	R137L	possibly damaging	Het
Myo18b	G	A	5: 112,757,559	R2058W	probably damaging	Het
Olfr1009	A	G	2: 85,721,573	H56R	probably damaging	Het
Olfr1269	A	T	2: 90,118,858	L247M	probably damaging	Het
Olfr1458	G	A	19: 13,103,016	A96V	possibly damaging	Het
Olfr147	T	G	9: 38,403,305	C144G	possibly damaging	Het
Olfr460	C	T	6: 40,571,899	S171L	probably benign	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Parp12	G	T	6: 39,102,561	D338E	probably benign	Het
Pde6d	T	C	1: 86,546,692	E77G	probably damaging	Het
Phkg1	A	C	5: 129,873,214		probably null	Het
Pigw	A	C	11: 84,878,360	S48A	probably benign	Het
Pkm	T	A	9: 59,668,910		probably null	Het
Ppp1r3f	G	A	X: 7,560,363	T553M	probably damaging	Het
Retreg2	T	A	1: 75,143,459	F44L	possibly damaging	Het
Ryr2	A	T	13: 11,738,149	M1762K	probably benign	Het
Sec16a	A	G	2: 26,423,567	V1927A	probably benign	Het
Sec23a	G	T	12: 58,978,559	A492E	probably damaging	Het
Skint4	T	A	4: 112,118,114	H82Q	probably benign	Het
Srbd1	T	C	17: 86,139,152	K60E	probably benign	Het
Stk24	A	G	14: 121,308,044	Y101H	probably damaging	Het
Sult1e1	A	T	5: 87,578,537	N239K	probably damaging	Het
Tgs1	C	T	4: 3,604,848	P757S	probably damaging	Het
Tmc2	A	T	2: 130,248,730	E665D	probably damaging	Het
Tmprss15	C	A	16: 79,078,958	D163Y	probably benign	Het
Unc13a	C	A	8: 71,648,981	V1009L	possibly damaging	Het
Unc45b	G	T	11: 82,928,670	G490C	probably damaging	Het
Vmn1r177	T	A	7: 23,866,340	H37L	probably damaging	Het
Vwa5a	A	G	9: 38,733,968	M450V	possibly damaging	Het
Wars2	T	C	3: 99,187,527	I46T	probably benign	Het
Wdfy3	G	T	5: 101,851,310	T3098K	possibly damaging	Het
Zan	A	T	5: 137,389,360	I4863N	unknown	Het
Zfp616	A	G	11: 74,083,238		probably null	Het
Zfp770	A	T	2: 114,197,033	I185N	probably damaging	Het
Zfp808	T	G	13: 62,173,007	H683Q	probably damaging	Het
Zmym4	A	T	4: 126,882,482	W1221R	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
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
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'- GGAGAAGCAACCCCAGAGCTGAA -3'
(R):5'- GAAACCCGAAATAAAGGGCTCCAGAA -3'

Sequencing Primer
(F):5'- ctacataatgagttacaagacagcc -3'
(R):5'- GTGACTAGCAAGGCTTAGCTA -3'

Posted On

2014-03-14