Mutagenetix > Incidental Mutation

Incidental Mutation 'R7368:Nol8'

571950

Institutional Source

Beutler Lab

Gene Symbol

Nol8

Ensembl Gene

ENSMUSG00000021392

Gene Name

nucleolar protein 8

Synonyms

5730412B09Rik, D13Ertd548e, 4921532D18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7368 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49653078-49679016 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49661219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 268 (S268P)

Ref Sequence

ENSEMBL: ENSMUSP00000152536 (fasta)

Gene Model

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

AlphaFold

Q3UHX0

Predicted Effect

probably benign
Transcript: ENSMUST00000021824
AA Change: S268P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: S268P

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 benign
Transcript: ENSMUST00000221142
AA Change: S250P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000222197
AA Change: S268P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000222333

Predicted Effect

probably benign
Transcript: ENSMUST00000223264

Predicted Effect

probably benign
Transcript: ENSMUST00000223467
AA Change: S250P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	A	T	12: 84,612,865	F153I	possibly damaging	Het
Adcy1	G	A	11: 7,144,765	V564I	probably damaging	Het
Apol9b	T	C	15: 77,735,934	I310T	possibly damaging	Het
Arhgef28	C	A	13: 97,996,862	V366F	probably benign	Het
B020004C17Rik	C	T	14: 57,017,316	T199I	possibly damaging	Het
Carmil2	C	T	8: 105,690,835	T575I	possibly damaging	Het
Catsper1	A	T	19: 5,336,663	Q308L	unknown	Het
Cpa2	T	A	6: 30,551,990	S239T	probably damaging	Het
Ddit3	G	A	10: 127,295,907	G108D	probably damaging	Het
Dnah3	T	C	7: 120,029,016	I1473V	probably benign	Het
Dscam	A	G	16: 96,643,931	V1520A	probably benign	Het
Edc4	TAGTAGCAGCAGCAGTAGCAGCAGCAG	TAGTAGCAGCAGCAG	8: 105,888,405		probably benign	Het
Ednrb	T	A	14: 103,820,017	I370F	probably benign	Het
Ehd3	A	G	17: 73,827,462	E272G	possibly damaging	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fam49b	A	T	15: 63,938,658		probably null	Het
Fkbp11	T	C	15: 98,724,426	K189E	unknown	Het
Frem1	T	A	4: 82,966,144	E1190D	probably benign	Het
Gabrg2	A	C	11: 41,976,563	Y76*	probably null	Het
Gm11437	T	A	11: 84,167,472		probably benign	Het
Gm8947	C	A	1: 151,193,096	Q227K	probably benign	Het
Gm9195	A	G	14: 72,480,056	F279S	probably damaging	Het
Gpbp1l1	T	C	4: 116,573,458	I42T	probably benign	Het
Hdac5	A	T	11: 102,197,381	V939E	probably null	Het
Hivep3	CGG	CG	4: 120,097,911	1141	probably null	Het
Kitl	A	T	10: 100,016,081	I21F	probably benign	Het
Krt1	T	C	15: 101,846,872	D484G	probably damaging	Het
Larp1	C	A	11: 58,048,078	P527T	probably damaging	Het
Lrp5	A	G	19: 3,620,085	V673A	possibly damaging	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Mmp27	G	A	9: 7,577,317	V228M	probably damaging	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo15	G	T	11: 60,490,915		probably null	Het
Myt1	A	G	2: 181,782,591	K26E	possibly damaging	Het
Nek1	T	A	8: 61,089,707	I777N	probably benign	Het
Nlrc5	C	T	8: 94,476,393	R374*	probably null	Het
Nynrin	T	A	14: 55,870,511	L1025Q	probably damaging	Het
Olfr1099	A	G	2: 86,959,258	S67P	probably damaging	Het
Osbpl3	A	T	6: 50,348,098	L140H	probably damaging	Het
Pcnt	T	C	10: 76,400,001	N1382S	probably benign	Het
Pef1	T	A	4: 130,127,385	L244*	probably null	Het
Phf11a	T	C	14: 59,280,725	E191G	probably benign	Het
Polr3a	A	T	14: 24,467,076	D702E	probably damaging	Het
Ptch1	C	T	13: 63,511,984	G1285D	probably benign	Het
Ptpn3	T	C	4: 57,221,993	D566G	probably damaging	Het
Pwp2	C	T	10: 78,182,480	G126R	probably damaging	Het
Scgb1b12	T	C	7: 32,334,567	I84T	probably damaging	Het
Sh2b1	A	T	7: 126,468,513	D618E	possibly damaging	Het
Slc35f5	T	A	1: 125,584,519	V352E	probably damaging	Het
Sppl2c	A	G	11: 104,187,604	E410G	probably damaging	Het
St6galnac2	T	C	11: 116,679,979	Y261C	probably damaging	Het
Stra6	G	A	9: 58,151,260	R468Q	probably benign	Het
Taf3	T	C	2: 9,916,377	H924R	unknown	Het
Tbx18	C	A	9: 87,730,697	V50L	probably benign	Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Unc45b	C	T	11: 82,942,495	T845I	probably benign	Het
Usp15	T	C	10: 123,196,893	D8G	possibly damaging	Het
Vmn2r91	A	G	17: 18,136,278	I736V	possibly damaging	Het
Vps13c	C	A	9: 67,914,073	D1288E	probably benign	Het
Zfp458	T	A	13: 67,257,236	M380L	probably benign	Het
Zfp638	A	G	6: 83,929,455	N201D	possibly 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
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
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'- ACTCACTTGGGAATTGGAAGG -3'
(R):5'- GAATGCCCAGGTTTCTCTCTG -3'

Sequencing Primer
(F):5'- TTGGAAGGAGGCAATGACCCTATG -3'
(R):5'- AATTCATCTTCCGAGTCAACATCATC -3'

Posted On

2019-09-13