Mutagenetix > Incidental Mutation

Incidental Mutation 'R0145:Nol8'

22589

Institutional Source

Beutler Lab

Gene Symbol

Nol8

Ensembl Gene

ENSMUSG00000021392

Gene Name

nucleolar protein 8

Synonyms

D13Ertd548e, 4921532D18Rik, 5730412B09Rik

MMRRC Submission

038430-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0145 (G1) of strain 722

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

49806554-49832492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49815923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 677 (A677V)

Ref Sequence

ENSEMBL: ENSMUSP00000152536 (fasta)

Gene Model

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

AlphaFold

Q3UHX0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021824
AA Change: A677V

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: A677V

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: A659V

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222197
AA Change: A677V

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000222333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223346

Predicted Effect

probably benign
Transcript: ENSMUST00000223467
AA Change: A659V

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 93.7%
20x: 82.1%

Validation Efficiency

96% (109/113)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,437,783 (GRCm39)	E64G	probably damaging	Het
Actr6	A	T	10: 89,564,040 (GRCm39)	Y77*	probably null	Het
Aldoart1	A	T	4: 72,769,576 (GRCm39)	S411T	probably benign	Het
Aqp1	C	T	6: 55,323,672 (GRCm39)	R234C	probably damaging	Het
Arsb	G	A	13: 93,998,795 (GRCm39)	G368R	possibly damaging	Het
Asxl3	G	A	18: 22,586,662 (GRCm39)	A151T	probably damaging	Het
Bcas3	T	C	11: 85,250,436 (GRCm39)		probably benign	Het
Bmpr2	AACACA	AACA	1: 59,906,739 (GRCm39)		probably null	Het
Bst1	A	G	5: 43,976,414 (GRCm39)	Y49C	probably damaging	Het
Btrc	T	A	19: 45,411,612 (GRCm39)	L12Q	probably damaging	Het
Cd248	T	C	19: 5,119,051 (GRCm39)	F300L	possibly damaging	Het
Cdk11b	G	T	4: 155,726,076 (GRCm39)		probably benign	Het
Cfap410	T	C	10: 77,819,390 (GRCm39)	S196P	probably benign	Het
Cfap44	A	T	16: 44,288,735 (GRCm39)	D1495V	probably damaging	Het
Chil3	T	A	3: 106,067,794 (GRCm39)	I124F	probably damaging	Het
Cnot2	A	T	10: 116,353,273 (GRCm39)	S63T	possibly damaging	Het
Cox8a	G	T	19: 7,192,783 (GRCm39)	H61N	probably benign	Het
Cpne9	T	C	6: 113,277,562 (GRCm39)	V427A	probably damaging	Het
Ctsll3	C	A	13: 60,946,409 (GRCm39)	G301C	probably damaging	Het
Cubn	T	A	2: 13,311,243 (GRCm39)	D3094V	probably damaging	Het
Cyba	A	T	8: 123,153,977 (GRCm39)	M65K	possibly damaging	Het
Cyp4f39	T	A	17: 32,705,934 (GRCm39)	S342T	possibly damaging	Het
Daam2	T	C	17: 49,787,806 (GRCm39)	I436V	probably benign	Het
Daglb	T	C	5: 143,460,363 (GRCm39)		probably benign	Het
Dnah7b	T	G	1: 46,262,338 (GRCm39)	L2067R	probably damaging	Het
Ep300	T	C	15: 81,500,328 (GRCm39)		probably null	Het
Esm1	A	G	13: 113,353,230 (GRCm39)	N171D	probably damaging	Het
Fbxl2	T	C	9: 113,814,393 (GRCm39)	E266G	probably damaging	Het
Ficd	G	T	5: 113,876,880 (GRCm39)	A352S	probably damaging	Het
H2-Q2	A	G	17: 35,564,152 (GRCm39)	D302G	probably benign	Het
Hacd3	A	T	9: 64,911,524 (GRCm39)		probably benign	Het
Kbtbd6	T	A	14: 79,690,464 (GRCm39)	N386K	probably benign	Het
Lct	T	C	1: 128,255,632 (GRCm39)	M137V	probably benign	Het
Lilrb4b	T	G	10: 51,360,614 (GRCm39)	N176K	probably benign	Het
Macf1	T	A	4: 123,281,190 (GRCm39)	H4340L	probably damaging	Het
Mcidas	A	G	13: 113,130,906 (GRCm39)	D77G	probably damaging	Het
Mmrn1	C	A	6: 60,949,994 (GRCm39)	Q315K	probably damaging	Het
Mon2	C	A	10: 122,849,417 (GRCm39)	L1294F	possibly damaging	Het
Muc5ac	A	G	7: 141,349,012 (GRCm39)	T483A	possibly damaging	Het
Nacc1	T	C	8: 85,401,504 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ngef	A	G	1: 87,468,370 (GRCm39)		probably benign	Het
Ogfod3	A	T	11: 121,085,896 (GRCm39)		probably benign	Het
Or6c8	A	T	10: 128,915,232 (GRCm39)	V200E	probably damaging	Het
Or8i2	A	C	2: 86,852,134 (GRCm39)	Y251*	probably null	Het
Parpbp	T	C	10: 87,928,871 (GRCm39)	Y523C	possibly damaging	Het
Pik3cg	C	A	12: 32,254,321 (GRCm39)	L555F	probably benign	Het
Pkp3	T	G	7: 140,669,676 (GRCm39)		probably null	Het
Pole	G	T	5: 110,472,291 (GRCm39)	R1518L	probably damaging	Het
Prkab1	T	C	5: 116,156,144 (GRCm39)		probably benign	Het
Prrc2a	T	C	17: 35,374,796 (GRCm39)	T1285A	probably benign	Het
Pus1	C	A	5: 110,922,720 (GRCm39)	V222L	probably benign	Het
Rab11fip1	A	G	8: 27,633,352 (GRCm39)	L1118P	probably damaging	Het
Ranbp2	T	A	10: 58,315,868 (GRCm39)	I2196N	probably damaging	Het
Rims3	T	C	4: 120,744,223 (GRCm39)	L151P	probably damaging	Het
Rnf130	A	G	11: 49,962,046 (GRCm39)	D164G	possibly damaging	Het
Rps6ka2	C	A	17: 7,529,585 (GRCm39)	L293I	probably benign	Het
Ruvbl1	A	G	6: 88,461,441 (GRCm39)	T269A	possibly damaging	Het
Sema4a	A	T	3: 88,358,729 (GRCm39)	I10N	probably damaging	Het
Serpinb6e	A	T	13: 34,025,043 (GRCm39)	S83T	probably benign	Het
Slc12a9	C	A	5: 137,313,550 (GRCm39)	W803L	probably damaging	Het
Slc3a2	A	G	19: 8,685,437 (GRCm39)	S188P	probably damaging	Het
Slc7a13	G	A	4: 19,818,782 (GRCm39)		probably benign	Het
Spart	A	T	3: 55,035,092 (GRCm39)	K493*	probably null	Het
Spata31e2	A	G	1: 26,726,413 (GRCm39)	M32T	probably benign	Het
Sun1	T	C	5: 139,227,166 (GRCm39)	V574A	probably damaging	Het
Supt6	A	G	11: 78,099,062 (GRCm39)	V1603A	probably benign	Het
Tgm5	A	G	2: 120,908,062 (GRCm39)	V38A	possibly damaging	Het
Tm6sf2	T	C	8: 70,530,518 (GRCm39)		probably benign	Het
Tnfaip2	T	A	12: 111,412,292 (GRCm39)	V231E	possibly damaging	Het
Tube1	T	A	10: 39,021,598 (GRCm39)	M281K	possibly damaging	Het
Tubgcp3	A	G	8: 12,707,561 (GRCm39)	Y143H	probably benign	Het
Tyrp1	A	G	4: 80,759,015 (GRCm39)	Y296C	probably damaging	Het
Utp4	A	G	8: 107,621,301 (GRCm39)	N26S	probably benign	Het
Vgf	T	A	5: 137,060,336 (GRCm39)		probably benign	Het
Zfat	T	C	15: 68,058,948 (GRCm39)	K196E	possibly damaging	Het
Zfp366	G	T	13: 99,366,048 (GRCm39)	S403I	probably damaging	Het
Zfp462	G	A	4: 55,010,529 (GRCm39)	G832R	probably damaging	Het
Zfp955a	T	A	17: 33,461,430 (GRCm39)	Q234L	probably damaging	Het
Zup1	T	C	10: 33,819,709 (GRCm39)	T202A	probably damaging	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
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
R1246:Nol8	UTSW	13	49,830,245 (GRCm39)	missense	probably damaging	1.00
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'- ACTGACTTCATGCCAACCTGCAAAG -3'
(R):5'- ATTTGCCAGGGCACTATGCACC -3'

Sequencing Primer
(F):5'- CCAACCTGCAAAGAAGGTG -3'
(R):5'- TCTGCCATGCTGCCAAG -3'

Posted On

2013-04-16