Mutagenetix > Incidental Mutation

Incidental Mutation 'R1246:Nol8'

152159

Institutional Source

Beutler Lab

Gene Symbol

Nol8

Ensembl Gene

ENSMUSG00000021392

Gene Name

nucleolar protein 8

Synonyms

D13Ertd548e, 4921532D18Rik, 5730412B09Rik

MMRRC Submission

039313-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1246 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49806554-49832492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49830245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1110 (W1110R)

Ref Sequence

ENSEMBL: ENSMUSP00000152878 (fasta)

Gene Model

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

AlphaFold

Q3UHX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021824
AA Change: W1128R

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

SMART Domains

Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: W1128R

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: ENSMUST00000221142
AA Change: W1110R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221328

Predicted Effect

probably damaging
Transcript: ENSMUST00000222197
AA Change: W1128R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000223467
AA Change: W1110R

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	T	C	13: 97,166,803 (GRCm39)	D71G	unknown	Het
Gm11563	T	C	11: 99,549,674 (GRCm39)	T27A	unknown	Het
Gm7361	G	T	5: 26,466,225 (GRCm39)	E196*	probably null	Het
Ltbp1	T	A	17: 75,692,156 (GRCm39)	Y1273*	probably null	Het
Or52b4	T	A	7: 102,184,149 (GRCm39)	L65H	probably damaging	Het
Or56b2	C	A	7: 104,337,371 (GRCm39)	L50I	possibly damaging	Het
Or8b1	T	C	9: 38,400,086 (GRCm39)	S254P	probably damaging	Het
Pde4d	T	A	13: 110,087,507 (GRCm39)	W625R	probably damaging	Het
Pigg	T	C	5: 108,489,686 (GRCm39)	Y631H	probably damaging	Het
Pik3cd	A	G	4: 149,744,257 (GRCm39)	Y165H	probably damaging	Het
Rap1gap	A	G	4: 137,439,405 (GRCm39)	E114G	possibly damaging	Het
Tubb2b	G	A	13: 34,312,130 (GRCm39)	T221I	possibly damaging	Het
Ythdf2	G	A	4: 131,932,182 (GRCm39)	T326M	probably benign	Het
Zzef1	A	G	11: 72,765,735 (GRCm39)	I1421V	probably benign	Het

Other mutations in Nol8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Nol8	APN	13	49,815,704 (GRCm39)	missense	probably benign	0.01
IGL01106:Nol8	APN	13	49,807,957 (GRCm39)	missense	possibly damaging	0.46
IGL01413:Nol8	APN	13	49,813,428 (GRCm39)	missense	possibly damaging	0.82
IGL01540:Nol8	APN	13	49,815,146 (GRCm39)	missense	probably benign	0.06
IGL01670:Nol8	APN	13	49,814,784 (GRCm39)	missense	possibly damaging	0.54
IGL01672:Nol8	APN	13	49,828,883 (GRCm39)	missense	possibly damaging	0.95
IGL02032:Nol8	APN	13	49,826,248 (GRCm39)	missense	probably benign
IGL02212:Nol8	APN	13	49,815,626 (GRCm39)	missense	possibly damaging	0.87
IGL02323:Nol8	APN	13	49,808,721 (GRCm39)	splice site	probably benign
IGL02645:Nol8	APN	13	49,818,947 (GRCm39)	critical splice donor site	probably null
IGL02949:Nol8	APN	13	49,815,878 (GRCm39)	missense	probably benign	0.01
IGL02954:Nol8	APN	13	49,814,648 (GRCm39)	missense	probably benign	0.01
IGL03182:Nol8	APN	13	49,817,557 (GRCm39)	missense	probably damaging	1.00
IGL03406:Nol8	APN	13	49,815,044 (GRCm39)	missense	probably damaging	1.00
P0047:Nol8	UTSW	13	49,807,824 (GRCm39)	splice site	probably null
R0092:Nol8	UTSW	13	49,815,923 (GRCm39)	missense	possibly damaging	0.54
R0099:Nol8	UTSW	13	49,826,165 (GRCm39)	missense	probably benign
R0145:Nol8	UTSW	13	49,815,923 (GRCm39)	missense	possibly damaging	0.54
R0269:Nol8	UTSW	13	49,807,921 (GRCm39)	missense	possibly damaging	0.49
R0370:Nol8	UTSW	13	49,815,923 (GRCm39)	missense	possibly damaging	0.54
R0374:Nol8	UTSW	13	49,815,923 (GRCm39)	missense	possibly damaging	0.54
R0390:Nol8	UTSW	13	49,815,628 (GRCm39)	missense	probably damaging	1.00
R0617:Nol8	UTSW	13	49,807,921 (GRCm39)	missense	possibly damaging	0.49
R0635:Nol8	UTSW	13	49,830,234 (GRCm39)	missense	probably benign	0.05
R0637:Nol8	UTSW	13	49,815,923 (GRCm39)	missense	possibly damaging	0.54
R1446:Nol8	UTSW	13	49,808,703 (GRCm39)	missense	probably damaging	1.00
R1464:Nol8	UTSW	13	49,830,264 (GRCm39)	missense	probably benign
R1464:Nol8	UTSW	13	49,830,264 (GRCm39)	missense	probably benign
R1627:Nol8	UTSW	13	49,814,980 (GRCm39)	missense	probably benign	0.01
R1703:Nol8	UTSW	13	49,820,933 (GRCm39)	missense	possibly damaging	0.65
R1751:Nol8	UTSW	13	49,820,884 (GRCm39)	missense	probably benign	0.06
R2187:Nol8	UTSW	13	49,815,475 (GRCm39)	missense	probably benign	0.00
R2357:Nol8	UTSW	13	49,807,980 (GRCm39)	critical splice donor site	probably null
R3081:Nol8	UTSW	13	49,831,868 (GRCm39)	unclassified	probably benign
R3969:Nol8	UTSW	13	49,813,492 (GRCm39)	nonsense	probably null
R4199:Nol8	UTSW	13	49,815,224 (GRCm39)	missense	possibly damaging	0.65
R4720:Nol8	UTSW	13	49,816,229 (GRCm39)	missense	probably damaging	1.00
R4927:Nol8	UTSW	13	49,807,901 (GRCm39)	missense	possibly damaging	0.79
R5177:Nol8	UTSW	13	49,814,588 (GRCm39)	missense	probably benign	0.32
R5512:Nol8	UTSW	13	49,830,263 (GRCm39)	missense	probably benign
R5744:Nol8	UTSW	13	49,815,802 (GRCm39)	missense	possibly damaging	0.82
R5988:Nol8	UTSW	13	49,826,090 (GRCm39)	missense	possibly damaging	0.58
R6048:Nol8	UTSW	13	49,807,160 (GRCm39)	critical splice donor site	probably null
R6306:Nol8	UTSW	13	49,829,829 (GRCm39)	missense	probably damaging	1.00
R6359:Nol8	UTSW	13	49,817,546 (GRCm39)	missense	probably benign	0.16
R6378:Nol8	UTSW	13	49,820,831 (GRCm39)	missense	probably damaging	1.00
R6655:Nol8	UTSW	13	49,807,868 (GRCm39)	missense	probably damaging	1.00
R7035:Nol8	UTSW	13	49,814,678 (GRCm39)	missense	probably benign	0.06
R7058:Nol8	UTSW	13	49,829,862 (GRCm39)	missense	probably damaging	1.00
R7368:Nol8	UTSW	13	49,814,695 (GRCm39)	missense	probably benign	0.00
R7450:Nol8	UTSW	13	49,813,491 (GRCm39)	missense	probably benign	0.01
R7673:Nol8	UTSW	13	49,818,256 (GRCm39)	missense	probably benign	0.15
R7750:Nol8	UTSW	13	49,815,742 (GRCm39)	missense	possibly damaging	0.83
R8246:Nol8	UTSW	13	49,808,724 (GRCm39)	splice site	probably benign
R9081:Nol8	UTSW	13	49,814,881 (GRCm39)	missense	probably benign	0.00
R9127:Nol8	UTSW	13	49,815,475 (GRCm39)	missense	probably benign	0.00
R9223:Nol8	UTSW	13	49,814,738 (GRCm39)	missense	possibly damaging	0.63
X0020:Nol8	UTSW	13	49,814,641 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCCATTCAGTGGTGTGGGACAAG -3'
(R):5'- GTCAGTCAAGTCAATCTGCCCTCC -3'

Sequencing Primer
(F):5'- TACATTCTGAGGGCCAAGTG -3'
(R):5'- ctcccttccttccttccttc -3'

Posted On

2014-01-29