Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01413:Nol8'

80148

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nol8

Ensembl Gene

ENSMUSG00000021392

Gene Name

nucleolar protein 8

Synonyms

5730412B09Rik, D13Ertd548e, 4921532D18Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01413

Quality Score

Status

Chromosome

Chromosomal Location

49653078-49679016 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 49659952 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 140 (N140K)

Ref Sequence

ENSEMBL: ENSMUSP00000152878 (fasta)

Gene Model

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

AlphaFold

Q3UHX0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021824
AA Change: N158K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: N158K

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
AA Change: N140K

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221142
AA Change: N140K

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222197
AA Change: N158K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000222333

Predicted Effect

probably benign
Transcript: ENSMUST00000223264

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223467
AA Change: N140K

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,612,306	A1160V	possibly damaging	Het
Acaa2	A	T	18: 74,805,944		probably benign	Het
Adgrl1	T	A	8: 83,929,857	I268N	probably damaging	Het
Asic1	T	A	15: 99,672,117	N106K	probably damaging	Het
Ass1	A	G	2: 31,476,922	Y11C	probably damaging	Het
Casc1	A	T	6: 145,175,086	M669K	probably damaging	Het
Cd44	T	C	2: 102,814,287	E448G	probably damaging	Het
Cdca2	A	G	14: 67,677,894	S639P	probably damaging	Het
Cfap221	T	A	1: 119,985,071	H91L	possibly damaging	Het
Cmtr1	T	C	17: 29,697,982	S618P	probably benign	Het
Cnga4	A	T	7: 105,404,962	M46L	probably benign	Het
Col4a4	C	T	1: 82,471,248	G1207E	unknown	Het
Cthrc1	T	A	15: 39,080,499	L58Q	possibly damaging	Het
Cyb561a3	T	A	19: 10,585,246	H83Q	probably damaging	Het
Dlgap1	C	A	17: 70,516,074	A18E	probably benign	Het
Dnah2	G	A	11: 69,432,964	L3707F	probably damaging	Het
Duox1	A	G	2: 122,320,710	N289D	probably benign	Het
Fbrsl1	T	A	5: 110,378,248	E443D	probably damaging	Het
Fgfr1	T	A	8: 25,562,223	C288*	probably null	Het
Gabbr1	A	G	17: 37,062,706	N498S	possibly damaging	Het
Gja10	T	C	4: 32,602,070	K105E	probably damaging	Het
Glra4	C	T	X: 136,762,744	R352H	probably benign	Het
Gm13088	A	T	4: 143,655,317	F270I	probably benign	Het
Gm19402	G	T	10: 77,690,489		probably benign	Het
Hadha	T	A	5: 30,141,027	M200L	probably benign	Het
Hoxc9	T	A	15: 102,984,000	M215K	probably damaging	Het
Huwe1	A	T	X: 151,882,680	Q1231L	possibly damaging	Het
Ifi214	T	A	1: 173,529,429	N36I	probably damaging	Het
Il17ra	A	G	6: 120,475,581	N242D	probably benign	Het
Il1rl1	A	T	1: 40,446,169	K260N	possibly damaging	Het
Lhx6	C	A	2: 36,103,516	A57S	probably benign	Het
Mdh2	T	A	5: 135,786,025	I116N	probably damaging	Het
Met	T	C	6: 17,558,896		probably benign	Het
Mgam	A	G	6: 40,661,277	D387G	probably damaging	Het
Myo3a	T	C	2: 22,297,600	S287P	probably benign	Het
Nrap	C	A	19: 56,389,391	A56S	probably damaging	Het
Nuggc	A	G	14: 65,638,581	T548A	probably benign	Het
Olfr418	T	A	1: 173,270,708	C178S	probably damaging	Het
Olfr94	A	T	17: 37,197,663	F102I	possibly damaging	Het
Pcdh11x	A	G	X: 120,399,585	T242A	probably benign	Het
Pcdhb8	A	G	18: 37,355,976	N236D	probably damaging	Het
Pdzph1	T	C	17: 58,879,152	I1215V	possibly damaging	Het
Plekha8	C	T	6: 54,622,276	T265I	probably benign	Het
Pou4f2	T	A	8: 78,435,105	I290F	probably damaging	Het
Ptpn3	G	A	4: 57,270,156	T2I	probably damaging	Het
Rab28	A	T	5: 41,698,447	D68E	probably damaging	Het
Rbl1	T	C	2: 157,152,892		probably null	Het
Samd4	A	G	14: 47,016,792	T137A	probably benign	Het
Serpinb1b	T	G	13: 33,093,859	D358E	probably damaging	Het
Serpinb9c	G	A	13: 33,151,804	L222F	probably damaging	Het
Slc24a3	A	G	2: 145,640,249	D609G	probably damaging	Het
Slc25a40	A	C	5: 8,453,298	*338Y	probably null	Het
Spef2	T	A	15: 9,676,290	I732L	probably benign	Het
Srrm2	T	C	17: 23,816,025		probably benign	Het
Ssx9	A	G	X: 8,749,453	E75G	probably benign	Het
Stmnd1	A	T	13: 46,299,681	I278L	probably benign	Het
Strap	C	A	6: 137,745,504		probably benign	Het
Supt16	C	T	14: 52,177,032	E438K	probably benign	Het
Tcf4	A	C	18: 69,655,019	E160D	probably damaging	Het
Themis3	A	G	17: 66,556,097	Y289H	probably benign	Het
Tmem87a	T	C	2: 120,385,870	T180A	probably benign	Het
Trappc10	A	G	10: 78,197,844	V963A	possibly damaging	Het
Trav19	G	T	14: 53,845,615	C49F	probably damaging	Het
Trim30c	A	G	7: 104,382,334	S425P	possibly damaging	Het
Ubap1	A	T	4: 41,387,333	R414S	probably benign	Het
Usp9x	A	G	X: 13,151,340	S1696G	probably benign	Het
Vipas39	G	A	12: 87,249,397	T274I	probably benign	Het
Vmn1r185	A	T	7: 26,611,621	V153E	probably damaging	Het
Vmn2r124	A	G	17: 18,062,565	T174A	probably benign	Het
Wdr59	T	A	8: 111,501,074	S124C	probably benign	Het
Xirp2	A	T	2: 67,509,926	D837V	probably damaging	Het
Zfp185	A	G	X: 73,018,391	D403G	possibly damaging	Het
Zfp516	A	T	18: 82,987,670	K900*	probably null	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
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
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

Posted On

2013-11-05