Mutagenetix > Incidental Mutation

Incidental Mutation 'R9223:Nol8'

699619

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 #

R9223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49653078-49679016 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49661262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 282 (V282D)

Ref Sequence

ENSEMBL: ENSMUSP00000152536 (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: V282D

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: V282D

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: V264D

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222197
AA Change: V282D

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000222333

Predicted Effect

probably benign
Transcript: ENSMUST00000223264

Predicted Effect

probably benign
Transcript: ENSMUST00000223467
AA Change: V264D

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	C	A	9: 101,942,994	D204E	possibly damaging	Het
Aldh3a2	A	G	11: 61,265,211	S80P	probably benign	Het
Bcl6b	A	T	11: 70,226,574	Y407*	probably null	Het
Cel	TTA	TTATA	2: 28,559,429		probably null	Het
Cerkl	A	T	2: 79,341,330	C395S	probably damaging	Het
Chst5	C	A	8: 111,890,860	V43L	probably benign	Het
Clip1	A	T	5: 123,646,274	F271I	probably damaging	Het
Clspn	A	G	4: 126,590,618	T1190A	possibly damaging	Het
Col20a1	A	T	2: 181,006,735	E938D	probably damaging	Het
Ctgf	T	C	10: 24,595,958	V49A	probably benign	Het
Dmrta2	G	A	4: 109,982,582	V509M	probably damaging	Het
Dnah7b	T	A	1: 46,322,260	M3440K	probably benign	Het
Erlin1	A	G	19: 44,040,745		probably null	Het
Fam24b	A	G	7: 131,326,140	S107P	probably benign	Het
Fancm	T	A	12: 65,102,584	I708N	probably benign	Het
Fbxo11	A	T	17: 88,015,696	D12E		Het
Fbxw13	T	C	9: 109,195,048	D39G	probably damaging	Het
Gabrb3	T	G	7: 57,816,404	L322R	probably damaging	Het
Gm10696	A	C	3: 94,175,643	L287R	probably damaging	Het
Gm5239	A	T	18: 35,536,619	I13F	possibly damaging	Het
Heatr1	A	G	13: 12,404,921	Y375C	probably benign	Het
Helq	A	T	5: 100,798,437	S13T	possibly damaging	Het
Helz	A	G	11: 107,619,092	T514A	probably benign	Het
Hook3	A	G	8: 26,032,524	V32A		Het
Htra4	A	G	8: 25,037,032	I249T	possibly damaging	Het
Htt	G	T	5: 34,905,348	V2809L	probably benign	Het
Ifi203	T	A	1: 173,937,871	I46F	probably benign	Het
Kcna2	A	T	3: 107,104,990	I296F	possibly damaging	Het
Kndc1	A	G	7: 139,921,441	E882G	possibly damaging	Het
Krtap16-1	A	T	11: 99,985,245	D444E	probably benign	Het
Lrrtm3	ATTTT	ATTTTT	10: 64,089,256		probably null	Het
Mdga2	C	T	12: 66,568,860	D658N	possibly damaging	Het
Mkrn1	T	C	6: 39,401,249	K316R	possibly damaging	Het
Mmd2	C	T	5: 142,567,911	C165Y	probably damaging	Het
Mpdz	A	G	4: 81,284,630	F1843L	probably damaging	Het
Mrc2	G	A	11: 105,329,267	R338Q	probably damaging	Het
Naip5	C	T	13: 100,227,676	R372H	probably benign	Het
Nav2	C	A	7: 49,552,851	S1461Y	probably damaging	Het
Nup98	C	A	7: 102,184,960	G265V	possibly damaging	Het
Olfr1049	G	T	2: 86,255,200	F164L	possibly damaging	Het
Olfr1311	T	A	2: 112,021,172	K227N	possibly damaging	Het
Olfr1318	T	A	2: 112,156,128	M59K	possibly damaging	Het
Olfr132	C	T	17: 38,131,121	E24K	possibly damaging	Het
Olfr1532-ps1	A	G	7: 106,914,773	T192A	possibly damaging	Het
Olfr356	T	C	2: 36,937,899	F260S	probably damaging	Het
Otogl	T	A	10: 107,854,344	E888D	probably damaging	Het
Pcdhgc4	A	G	18: 37,815,632	I34V	possibly damaging	Het
Ppp1r12b	T	C	1: 134,879,638	R417G	probably benign	Het
Rtn4	A	G	11: 29,706,778	S311G	probably benign	Het
Serinc3	A	G	2: 163,636,892	V105A	probably benign	Het
Serpina3f	A	G	12: 104,217,185	D102G	possibly damaging	Het
Sik3	A	G	9: 46,155,474	I184V	probably damaging	Het
Tex35	A	T	1: 157,107,866	C21S	probably benign	Het
Tfap2b	T	C	1: 19,212,425		probably null	Het
Thbs4	C	T	13: 92,761,490	C607Y	probably damaging	Het
Tmem144	A	T	3: 79,827,657	N151K	probably benign	Het
Tomm70a	T	A	16: 57,142,803	M395K	probably benign	Het
Trim43b	A	C	9: 89,085,610	H324Q	probably benign	Het
Vmn2r116	A	T	17: 23,401,167	Y625F	probably damaging	Het
Yipf3	A	T	17: 46,248,872	N38I	probably damaging	Het
Zfp804b	T	A	5: 6,771,496	E522D	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
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
X0020:Nol8	UTSW	13	49661165	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGGAAGGAGGCAATGACCC -3'
(R):5'- CTCATTGACTGAGGAATGCCCAG -3'

Sequencing Primer
(F):5'- TGACCCTATGAGTAAGAAACGTC -3'
(R):5'- ACTGAGGAATGCCCAGGTTTCTC -3'

Posted On

2022-02-07