Mutagenetix > Incidental Mutations

Incidental Mutation 'R4697:Gnl3'

355794

Institutional Source

Beutler Lab

Gene Symbol

Gnl3

Ensembl Gene

ENSMUSG00000042354

Gene Name

guanine nucleotide binding protein-like 3 (nucleolar)

Synonyms

nucleostemin, NS

MMRRC Submission

041947-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31012433-31019152 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31017329 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 53 (S53G)

Ref Sequence

ENSEMBL: ENSMUSP00000047119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037739] [ENSMUST00000052239] [ENSMUST00000112094] [ENSMUST00000112095] [ENSMUST00000112098] [ENSMUST00000112106] [ENSMUST00000144009] [ENSMUST00000146325] [ENSMUST00000226740] [ENSMUST00000227467] [ENSMUST00000228341]

AlphaFold

Q8CI11

Predicted Effect

probably damaging
Transcript: ENSMUST00000037739
AA Change: S53G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047119
Gene: ENSMUSG00000042354
AA Change: S53G

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

probably benign
Transcript: ENSMUST00000052239

SMART Domains

Protein: ENSMUSP00000060476
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	1049	8.64e-22	SMART
low complexity region	1058	1072	N/A	INTRINSIC
BAH	1131	1247	3.02e-35	SMART
low complexity region	1293	1310	N/A	INTRINSIC
HMG	1326	1396	2.87e-13	SMART
low complexity region	1405	1430	N/A	INTRINSIC
low complexity region	1449	1477	N/A	INTRINSIC

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

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

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

noncoding transcript
Transcript: ENSMUST00000145497

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: ENSMUST00000157287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226220

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226740
AA Change: S53G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227467
AA Change: S41G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227170

Predicted Effect

probably benign
Transcript: ENSMUST00000226379

Predicted Effect

probably benign
Transcript: ENSMUST00000228341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227869

Meta Mutation Damage Score

0.0935

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (75/78)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,791,448	I455N	probably damaging	Het
A2m	T	C	6: 121,638,284	M1T	probably null	Het
Aatf	T	A	11: 84,449,138	D449V	probably damaging	Het
Acbd3	T	A	1: 180,721,944		probably benign	Het
BC005561	A	G	5: 104,522,240	K1543E	probably benign	Het
Bicc1	T	A	10: 70,953,484	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,649,749	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,525,485	V401A	probably damaging	Het
Cux2	T	C	5: 121,873,753	T540A	probably damaging	Het
Disp2	G	T	2: 118,791,684	E966*	probably null	Het
Dpp7	A	G	2: 25,354,919	Y209H	probably benign	Het
Dstyk	T	A	1: 132,449,487	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,694,408		probably null	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Ednra	T	C	8: 77,664,995	H422R	probably benign	Het
Erlec1	T	A	11: 30,952,640	I67F	probably benign	Het
Fam161b	G	A	12: 84,348,558		probably benign	Het
Gata5	A	T	2: 180,327,379	C345*	probably null	Het
Glmp	T	C	3: 88,328,274	V47A	probably damaging	Het
Gm9762	T	A	3: 78,966,550		noncoding transcript	Het
Gnas	A	T	2: 174,298,080	D14V	probably damaging	Het
Grhl3	C	T	4: 135,548,466	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,694,187	L281*	probably null	Het
Kif16b	T	G	2: 142,690,694	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,576,846	S204P	probably benign	Het
Klhl40	T	A	9: 121,778,734	I320N	probably damaging	Het
Ksr2	G	A	5: 117,708,147	R693Q	probably damaging	Het
Mis12	A	G	11: 71,025,326	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,974,777	C102R	probably damaging	Het
Muc5b	T	C	7: 141,857,361	I1348T	unknown	Het
Myh7b	A	G	2: 155,629,322	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,901,386	T52A	probably benign	Het
Nxpe2	C	A	9: 48,320,521	V379L	probably benign	Het
Olfr1231	C	A	2: 89,302,902	S230I	possibly damaging	Het
Olfr1231	T	A	2: 89,302,903	S230C	probably damaging	Het
Olfr1448	C	T	19: 12,919,934	C125Y	probably damaging	Het
Olfr1465	A	T	19: 13,313,717	D189E	probably benign	Het
Olfr288	G	A	15: 98,186,868	R310W	probably damaging	Het
Pcdhga7	A	T	18: 37,717,208	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,959,241	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,126,347	V1367A	possibly damaging	Het
Postn	T	A	3: 54,375,071	N484K	probably damaging	Het
Prkd3	C	T	17: 78,961,171	V572I	probably benign	Het
Qser1	T	C	2: 104,787,183	S1005G	probably benign	Het
Radil	G	T	5: 142,486,801	D951E	probably benign	Het
Ripk1	C	T	13: 34,027,942	R352*	probably null	Het
Sacs	T	C	14: 61,212,747	F4081L	probably benign	Het
Sbf1	A	G	15: 89,315,085	V11A	possibly damaging	Het
Sgip1	T	A	4: 102,934,587	F536I	probably damaging	Het
Slc45a1	A	G	4: 150,638,284	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,052,641	P71L	probably benign	Het
Spns1	T	A	7: 126,377,037	D14V	probably damaging	Het
Sv2c	T	A	13: 95,986,018	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,893,516	M169K	probably benign	Het
Tgm1	A	T	14: 55,705,681	N567K	probably benign	Het
Tln2	C	T	9: 67,395,461	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,853,791	V1340A	probably benign	Het
Tspan18	A	T	2: 93,312,030		probably null	Het
Txndc11	C	T	16: 11,084,314	V679I	probably damaging	Het
Usf1	G	T	1: 171,416,964	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,454,452	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,741,826	I713F	probably damaging	Het
Vmn2r79	A	T	7: 87,037,960	I850F	probably damaging	Het
Wdr90	C	T	17: 25,855,363	R676H	probably benign	Het
Zfp867	G	A	11: 59,463,661	R281W	probably damaging	Het
Zfp939	T	C	7: 39,472,942		noncoding transcript	Het

Other mutations in Gnl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Gnl3	APN	14	31014189	missense	possibly damaging	0.71
IGL00826:Gnl3	APN	14	31012796	unclassified	probably benign
IGL02323:Gnl3	APN	14	31017402	missense	probably damaging	1.00
R0277:Gnl3	UTSW	14	31013427	critical splice donor site	probably null
R0636:Gnl3	UTSW	14	31017153	missense	probably damaging	1.00
R0727:Gnl3	UTSW	14	31017077	missense	probably damaging	0.99
R1459:Gnl3	UTSW	14	31017846	missense	probably damaging	1.00
R1474:Gnl3	UTSW	14	31016461	splice site	probably benign
R2016:Gnl3	UTSW	14	31016369	splice site	probably null
R2352:Gnl3	UTSW	14	31016826	critical splice donor site	probably null
R2517:Gnl3	UTSW	14	31014163	missense	probably damaging	1.00
R4115:Gnl3	UTSW	14	31016856	missense	probably damaging	1.00
R4853:Gnl3	UTSW	14	31015313	missense	probably damaging	0.99
R4973:Gnl3	UTSW	14	31013505	missense	possibly damaging	0.68
R5091:Gnl3	UTSW	14	31016846	missense	possibly damaging	0.76
R5580:Gnl3	UTSW	14	31015285	missense	probably benign
R5914:Gnl3	UTSW	14	31016896	missense	possibly damaging	0.85
R6898:Gnl3	UTSW	14	31013179	missense	probably benign	0.01
R7292:Gnl3	UTSW	14	31013232	missense	probably benign
R7372:Gnl3	UTSW	14	31016886	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GCCTATCAAGTTTCTGCTGCTG -3'
(R):5'- GGCTGGCTTGTTCCCTAAGTTC -3'

Sequencing Primer
(F):5'- GCTGCTGTTTTAGTTCTTCAAGC -3'
(R):5'- GGCTTGTTCCCTAAGTTCTCAGTG -3'

Posted On

2015-10-21