Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03406:Nol8'

421595

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nol8

Ensembl Gene

ENSMUSG00000021392

Gene Name

nucleolar protein 8

Synonyms

D13Ertd548e, 4921532D18Rik, 5730412B09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03406

Quality Score

Status

Chromosome

Chromosomal Location

49806554-49832492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49815044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 366 (D366V)

Ref Sequence

ENSEMBL: ENSMUSP00000152878 (fasta)

Gene Model

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

AlphaFold

Q3UHX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021824
AA Change: D384V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: D384V

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 damaging
Transcript: ENSMUST00000221142
AA Change: D366V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222197
AA Change: D384V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000222333

Predicted Effect

probably benign
Transcript: ENSMUST00000223264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223346

Predicted Effect

probably damaging
Transcript: ENSMUST00000223467
AA Change: D366V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530016L24Rik	T	A	12: 112,463,317 (GRCm39)		probably null	Het
Adcy7	C	T	8: 89,044,947 (GRCm39)	R228*	probably null	Het
Cdcp1	T	C	9: 123,014,378 (GRCm39)	H132R	probably benign	Het
Cfap107	A	G	4: 144,150,414 (GRCm39)	Y56H	probably damaging	Het
Cyp4a32	T	C	4: 115,459,500 (GRCm39)	I78T	probably benign	Het
Fap	A	T	2: 62,372,466 (GRCm39)		probably benign	Het
Gad1-ps	C	T	10: 99,280,641 (GRCm39)		noncoding transcript	Het
Gli3	T	C	13: 15,823,166 (GRCm39)	I296T	probably damaging	Het
H2-Q2	T	C	17: 35,561,801 (GRCm39)	V97A	probably benign	Het
Hr	T	A	14: 70,800,860 (GRCm39)		probably null	Het
Itgax	C	T	7: 127,748,370 (GRCm39)	T1133I	possibly damaging	Het
L3mbtl2	G	A	15: 81,566,194 (GRCm39)	R339H	probably damaging	Het
Mast4	T	C	13: 102,873,615 (GRCm39)	K1726E	possibly damaging	Het
Nlrc5	T	C	8: 95,203,483 (GRCm39)	Y528H	probably benign	Het
Nmnat3	G	A	9: 98,281,530 (GRCm39)	G44D	probably damaging	Het
Or13a25	C	A	7: 140,247,424 (GRCm39)	L68M	probably damaging	Het
Pde4d	A	T	13: 110,091,125 (GRCm39)		probably benign	Het
Ptpn22	C	A	3: 103,819,332 (GRCm39)	N795K	probably benign	Het
Rabgap1l	A	T	1: 160,549,739 (GRCm39)	V289D	probably damaging	Het
Slc50a1	T	C	3: 89,177,408 (GRCm39)	D40G	possibly damaging	Het
Slco6b1	T	C	1: 96,875,310 (GRCm39)		noncoding transcript	Het
Smarcad1	T	A	6: 65,069,510 (GRCm39)	F530Y	probably damaging	Het
Spag6	A	G	2: 18,747,684 (GRCm39)		probably benign	Het
Supt16	A	T	14: 52,415,598 (GRCm39)	I379N	possibly damaging	Het
Tmem154	A	G	3: 84,591,567 (GRCm39)	N39S	probably benign	Het
Ubash3b	T	A	9: 40,948,775 (GRCm39)	Y180F	probably damaging	Het
Usp48	T	A	4: 137,366,606 (GRCm39)	D921E	possibly damaging	Het
Zdhhc20	T	C	14: 58,076,556 (GRCm39)	T366A	probably benign	Het
Zfp456	A	T	13: 67,514,450 (GRCm39)	C419S	probably damaging	Het
Zfp69	T	C	4: 120,788,281 (GRCm39)	T345A	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
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
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

Posted On

2016-08-02