Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02949:Nol8'

364874

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 #

IGL02949

Quality Score

Status

Chromosome

Chromosomal Location

49806554-49832492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49815878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 662 (D662G)

Ref Sequence

ENSEMBL: ENSMUSP00000152536 (fasta)

Gene Model

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

AlphaFold

Q3UHX0

Predicted Effect

probably benign
Transcript: ENSMUST00000021824
AA Change: D662G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: D662G

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: D644G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222197
AA Change: D662G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000222333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223346

Predicted Effect

probably benign
Transcript: ENSMUST00000223467
AA Change: D644G

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,344,490 (GRCm39)	V89I	probably damaging	Het
Abhd5	T	C	9: 122,206,980 (GRCm39)	F89L	possibly damaging	Het
Akr1c13	T	A	13: 4,248,593 (GRCm39)	V266E	probably damaging	Het
B4galt2	C	T	4: 117,738,602 (GRCm39)	A72T	probably benign	Het
Ccdc141	T	C	2: 76,857,938 (GRCm39)	Y1081C	probably damaging	Het
Coq8b	T	C	7: 26,956,038 (GRCm39)	V405A	possibly damaging	Het
Ddah2	A	G	17: 35,280,776 (GRCm39)	K251E	probably damaging	Het
Dnah5	T	C	15: 28,272,331 (GRCm39)	V1045A	probably benign	Het
Dpy19l1	A	T	9: 24,332,476 (GRCm39)	M662K	probably benign	Het
Dpys	A	G	15: 39,690,279 (GRCm39)	V358A	probably damaging	Het
H2-D1	A	G	17: 35,483,064 (GRCm39)	N198S	probably benign	Het
Hnrnpa1	T	C	15: 103,150,538 (GRCm39)	V163A	probably damaging	Het
Hr	C	T	14: 70,797,225 (GRCm39)	R543C	possibly damaging	Het
Lct	C	T	1: 128,240,869 (GRCm39)	V245M	probably benign	Het
Lpl	G	A	8: 69,345,400 (GRCm39)	V135M	probably damaging	Het
Mblac1	T	A	5: 138,193,119 (GRCm39)	C154S	probably benign	Het
Mmp9	T	C	2: 164,793,039 (GRCm39)	F396S	probably damaging	Het
Mroh1	A	T	15: 76,293,168 (GRCm39)	H314L	probably damaging	Het
Msantd4	T	A	9: 4,385,196 (GRCm39)	L307Q	probably damaging	Het
Nynrin	G	A	14: 56,109,837 (GRCm39)	S1648N	probably damaging	Het
Or52a20	A	G	7: 103,366,427 (GRCm39)	I209V	probably benign	Het
Plcb2	C	T	2: 118,549,590 (GRCm39)		probably null	Het
Scyl2	T	A	10: 89,496,163 (GRCm39)	N229I	possibly damaging	Het
Spryd3	C	T	15: 102,026,544 (GRCm39)	E376K	probably benign	Het
Srr	T	G	11: 74,799,563 (GRCm39)	E304A	probably benign	Het
Srsf1	A	G	11: 87,940,352 (GRCm39)		probably benign	Het
Txnrd2	T	G	16: 18,296,456 (GRCm39)	S473A	probably benign	Het
Wdr18	T	A	10: 79,800,889 (GRCm39)	C151S	probably benign	Het
Zfp282	C	T	6: 47,874,848 (GRCm39)	T351I	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
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
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

2015-12-18