Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00809:Gnl3'

11054

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gnl3

Ensembl Gene

ENSMUSG00000042354

Gene Name

guanine nucleotide binding protein nucleolar 3

Synonyms

NS, nucleostemin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00809

Quality Score

Status

Chromosome

Chromosomal Location

30734390-30741088 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30736146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 298 (I298T)

Ref Sequence

ENSEMBL: ENSMUSP00000047119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022476] [ENSMUST00000037739] [ENSMUST00000112094] [ENSMUST00000112095] [ENSMUST00000112098] [ENSMUST00000144009] [ENSMUST00000146325] [ENSMUST00000226740] [ENSMUST00000112106] [ENSMUST00000168584] [ENSMUST00000228341] [ENSMUST00000227467]

AlphaFold

Q8CI11

Predicted Effect

probably benign
Transcript: ENSMUST00000022476

SMART Domains

Protein: ENSMUSP00000022476
Gene: ENSMUSG00000021916

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Glyco_transf_8	67	340	1.7e-69	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037739
AA Change: I298T

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047119
Gene: ENSMUSG00000042354
AA Change: I298T

Domain	Start	End	E-Value	Type
Pfam:GN3L_Grn1	16	90	4.3e-25	PFAM
low complexity region	112	126	N/A	INTRINSIC
SCOP:d1egaa1	130	207	3e-3	SMART
low complexity region	209	220	N/A	INTRINSIC
Pfam:MMR_HSR1	251	362	2.3e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104609

Predicted Effect

probably benign
Transcript: ENSMUST00000112094

SMART Domains

Protein: ENSMUSP00000107723
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	322	338	N/A	INTRINSIC
BROMO	347	457	1.57e-32	SMART
BROMO	484	595	6.07e-39	SMART
BROMO	619	733	3.01e-43	SMART
BROMO	743	849	2.53e-18	SMART
coiled coil region	875	902	N/A	INTRINSIC
BAH	924	1042	1.33e-45	SMART
low complexity region	1051	1065	N/A	INTRINSIC
BAH	1124	1240	3.02e-35	SMART
low complexity region	1286	1306	N/A	INTRINSIC
HMG	1346	1416	2.87e-13	SMART
low complexity region	1425	1450	N/A	INTRINSIC
low complexity region	1469	1497	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112095

SMART Domains

Protein: ENSMUSP00000107724
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	881	2.53e-18	SMART
coiled coil region	907	934	N/A	INTRINSIC
BAH	956	1074	1.33e-45	SMART
low complexity region	1083	1097	N/A	INTRINSIC
BAH	1156	1272	3.02e-35	SMART
low complexity region	1318	1338	N/A	INTRINSIC
HMG	1378	1448	2.87e-13	SMART
low complexity region	1457	1482	N/A	INTRINSIC
low complexity region	1501	1529	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112098

SMART Domains

Protein: ENSMUSP00000107727
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	531	642	6.07e-39	SMART
BROMO	666	780	3.01e-43	SMART
BROMO	790	896	2.53e-18	SMART
coiled coil region	922	949	N/A	INTRINSIC
BAH	971	1089	1.33e-45	SMART
low complexity region	1098	1112	N/A	INTRINSIC
BAH	1171	1287	3.02e-35	SMART
low complexity region	1333	1353	N/A	INTRINSIC
HMG	1393	1463	1.62e-21	SMART
low complexity region	1479	1490	N/A	INTRINSIC
low complexity region	1500	1515	N/A	INTRINSIC
low complexity region	1527	1552	N/A	INTRINSIC
low complexity region	1571	1599	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157287

Predicted Effect

probably benign
Transcript: ENSMUST00000144009

SMART Domains

Protein: ENSMUSP00000123518
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
Blast:BROMO	40	68	8e-14	BLAST
PDB:3IU5\|A	64	84	8e-9	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000226379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227389

Predicted Effect

probably benign
Transcript: ENSMUST00000146325

SMART Domains

Protein: ENSMUSP00000122805
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	64	174	4.97e-35	SMART
BROMO	196	310	5.84e-41	SMART
low complexity region	343	359	N/A	INTRINSIC
BROMO	368	478	1.57e-32	SMART
BROMO	505	616	6.07e-39	SMART
BROMO	640	754	3.01e-43	SMART
BROMO	764	870	2.53e-18	SMART
coiled coil region	896	923	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227087

Predicted Effect

probably benign
Transcript: ENSMUST00000226740

Predicted Effect

probably benign
Transcript: ENSMUST00000112106

SMART Domains

Protein: ENSMUSP00000107734
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
Blast:BROMO	61	91	6e-16	BLAST
PDB:3IU5\|A	61	91	6e-17	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226271

Predicted Effect

probably benign
Transcript: ENSMUST00000168584

SMART Domains

Protein: ENSMUSP00000129323
Gene: ENSMUSG00000021916

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Glyco_transf_8	67	340	8.6e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228427

Predicted Effect

probably benign
Transcript: ENSMUST00000228341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228713

Predicted Effect

probably benign
Transcript: ENSMUST00000227467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228255

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous disruption of this gene leads to early embryonic loss as blastocysts fail to enter the S phase. MEFs heterozygous for a gene trap allele have reduced proliferative capacity while MEFs heterozygous for a null allele show reduced doubling rates,increased apoptosis and premature senescence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,092,983 (GRCm39)	T113A	possibly damaging	Het
Akap10	T	A	11: 61,805,897 (GRCm39)	N277I	possibly damaging	Het
Ankrd24	A	T	10: 81,478,901 (GRCm39)		probably benign	Het
Bfsp2	T	C	9: 103,330,297 (GRCm39)	E180G	possibly damaging	Het
Cd55	A	T	1: 130,380,248 (GRCm39)	Y243*	probably null	Het
Col17a1	G	T	19: 47,669,842 (GRCm39)	H103Q	probably damaging	Het
Diaph3	A	T	14: 87,237,463 (GRCm39)	H311Q	probably damaging	Het
Dnah1	G	A	14: 31,022,766 (GRCm39)	Q1124*	probably null	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Fzr1	G	T	10: 81,206,359 (GRCm39)	S137*	probably null	Het
Hnrnpa2b1	C	T	6: 51,443,993 (GRCm39)	G65S	probably damaging	Het
Hsd17b7	A	T	1: 169,793,324 (GRCm39)	Y88*	probably null	Het
Itga2	C	A	13: 115,014,161 (GRCm39)	A256S	probably damaging	Het
Itga7	T	C	10: 128,775,038 (GRCm39)		probably null	Het
Ivl	T	A	3: 92,479,819 (GRCm39)	Q82L	possibly damaging	Het
Lin28a	C	T	4: 133,735,367 (GRCm39)	G90S	probably damaging	Het
Lkaaear1	A	T	2: 181,339,127 (GRCm39)	S108T	probably benign	Het
Mfsd11	T	A	11: 116,750,177 (GRCm39)	S105T	probably damaging	Het
Osbpl9	C	T	4: 108,990,960 (GRCm39)	R100H	probably damaging	Het
Pals2	C	T	6: 50,173,569 (GRCm39)	R478C	probably benign	Het
Pclo	T	A	5: 14,725,811 (GRCm39)	D1556E	unknown	Het
Phip	G	A	9: 82,753,356 (GRCm39)	S1796F	probably damaging	Het
Phtf1	T	C	3: 103,895,983 (GRCm39)	S226P	probably benign	Het
Rapgef6	C	A	11: 54,540,126 (GRCm39)	Q734K	probably damaging	Het
Scn9a	A	T	2: 66,314,279 (GRCm39)	I1802N	probably damaging	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Stab2	A	T	10: 86,684,038 (GRCm39)		probably benign	Het
Trpc7	T	C	13: 56,970,301 (GRCm39)	I373V	probably benign	Het
Ttbk2	T	A	2: 120,590,750 (GRCm39)	D303V	probably damaging	Het
Ylpm1	T	C	12: 85,095,968 (GRCm39)	I1163T	probably damaging	Het

Other mutations in Gnl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00826:Gnl3	APN	14	30,734,753 (GRCm39)	unclassified	probably benign
IGL02323:Gnl3	APN	14	30,739,359 (GRCm39)	missense	probably damaging	1.00
R0277:Gnl3	UTSW	14	30,735,384 (GRCm39)	critical splice donor site	probably null
R0636:Gnl3	UTSW	14	30,739,110 (GRCm39)	missense	probably damaging	1.00
R0727:Gnl3	UTSW	14	30,739,034 (GRCm39)	missense	probably damaging	0.99
R1459:Gnl3	UTSW	14	30,739,803 (GRCm39)	missense	probably damaging	1.00
R1474:Gnl3	UTSW	14	30,738,418 (GRCm39)	splice site	probably benign
R2016:Gnl3	UTSW	14	30,738,326 (GRCm39)	splice site	probably null
R2352:Gnl3	UTSW	14	30,738,783 (GRCm39)	critical splice donor site	probably null
R2517:Gnl3	UTSW	14	30,736,120 (GRCm39)	missense	probably damaging	1.00
R4115:Gnl3	UTSW	14	30,738,813 (GRCm39)	missense	probably damaging	1.00
R4697:Gnl3	UTSW	14	30,739,286 (GRCm39)	missense	probably damaging	0.98
R4853:Gnl3	UTSW	14	30,737,270 (GRCm39)	missense	probably damaging	0.99
R4973:Gnl3	UTSW	14	30,735,462 (GRCm39)	missense	possibly damaging	0.68
R5091:Gnl3	UTSW	14	30,738,803 (GRCm39)	missense	possibly damaging	0.76
R5580:Gnl3	UTSW	14	30,737,242 (GRCm39)	missense	probably benign
R5914:Gnl3	UTSW	14	30,738,853 (GRCm39)	missense	possibly damaging	0.85
R6898:Gnl3	UTSW	14	30,735,136 (GRCm39)	missense	probably benign	0.01
R7292:Gnl3	UTSW	14	30,735,189 (GRCm39)	missense	probably benign
R7372:Gnl3	UTSW	14	30,738,843 (GRCm39)	missense	probably benign	0.06

Posted On

2012-12-06