Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00826:Gnl3'

11052

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 #

IGL00826

Quality Score

Status

Chromosome

Chromosomal Location

30734390-30741088 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 30734753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153981 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022476] [ENSMUST00000037739] [ENSMUST00000168584] [ENSMUST00000227467] [ENSMUST00000226378] [ENSMUST00000228341] [ENSMUST00000226740]

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

probably benign
Transcript: ENSMUST00000037739

SMART Domains

Protein: ENSMUSP00000047119
Gene: ENSMUSG00000042354

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

noncoding transcript
Transcript: ENSMUST00000157287

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

probably benign
Transcript: ENSMUST00000226379

Predicted Effect

probably benign
Transcript: ENSMUST00000227467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228255

Predicted Effect

probably benign
Transcript: ENSMUST00000226378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227389

Predicted Effect

probably benign
Transcript: ENSMUST00000228341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226959

Predicted Effect

probably benign
Transcript: ENSMUST00000226740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228914

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	G	8: 111,766,932 (GRCm39)	S105A	probably damaging	Het
Adamtsl1	C	T	4: 86,075,041 (GRCm39)	P136L	probably damaging	Het
Akap13	C	A	7: 75,327,195 (GRCm39)	N376K	probably damaging	Het
Casp2	T	A	6: 42,246,219 (GRCm39)	Y192*	probably null	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cyp2c68	A	G	19: 39,727,949 (GRCm39)	Y68H	possibly damaging	Het
Cyp2j9	A	T	4: 96,474,167 (GRCm39)	I91K	possibly damaging	Het
Diablo	T	C	5: 123,650,751 (GRCm39)	I179M	probably benign	Het
Dnah9	C	T	11: 65,880,768 (GRCm39)	V2610M	probably damaging	Het
Dsc2	C	T	18: 20,168,372 (GRCm39)	A696T	probably damaging	Het
Eaf2	A	T	16: 36,621,038 (GRCm39)	M218K	probably benign	Het
Emc9	G	T	14: 55,822,377 (GRCm39)	L64I	possibly damaging	Het
Epb41l2	T	C	10: 25,317,620 (GRCm39)	S46P	probably benign	Het
Galnt7	A	T	8: 57,993,105 (GRCm39)	Y405*	probably null	Het
Map1a	A	G	2: 121,132,757 (GRCm39)	Q1191R	possibly damaging	Het
Map2k2	G	A	10: 80,954,052 (GRCm39)	V173I	probably benign	Het
Nbeal2	A	G	9: 110,455,971 (GRCm39)	V2408A	probably benign	Het
Npepps	T	C	11: 97,126,884 (GRCm39)		probably benign	Het
Osbpl8	A	T	10: 111,108,181 (GRCm39)		probably benign	Het
Phf12	G	T	11: 77,906,332 (GRCm39)	R282L	probably damaging	Het
Phf21a	T	G	2: 92,174,881 (GRCm39)		probably benign	Het
Plin2	T	C	4: 86,582,683 (GRCm39)	N98D	possibly damaging	Het
Prl7a1	A	G	13: 27,824,778 (GRCm39)	V19A	probably damaging	Het
Slfn10-ps	T	C	11: 82,926,085 (GRCm39)		noncoding transcript	Het
Spag11b	T	G	8: 19,191,423 (GRCm39)	V33G	possibly damaging	Het
Trappc13	A	T	13: 104,281,016 (GRCm39)	S349T	probably benign	Het
Trim34a	T	C	7: 103,910,140 (GRCm39)		probably null	Het

Other mutations in Gnl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Gnl3	APN	14	30,736,146 (GRCm39)	missense	possibly damaging	0.71
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