Mutagenetix > Incidental Mutation

Incidental Mutation 'R0277:Gnl3'

24425

Institutional Source

Beutler Lab

Gene Symbol

Gnl3

Ensembl Gene

ENSMUSG00000042354

Gene Name

guanine nucleotide binding protein nucleolar 3

Synonyms

NS, nucleostemin

MMRRC Submission

038499-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30734390-30741088 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 30735384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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 null
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

noncoding transcript
Transcript: ENSMUST00000226959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226271

Predicted Effect

probably benign
Transcript: ENSMUST00000227467

Predicted Effect

probably benign
Transcript: ENSMUST00000226378

Predicted Effect

probably null
Transcript: ENSMUST00000226379

Predicted Effect

probably benign
Transcript: ENSMUST00000226740

Predicted Effect

probably benign
Transcript: ENSMUST00000228341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228427

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.0%
20x: 89.3%

Validation Efficiency

99% (111/112)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	A	G	7: 124,917,815 (GRCm39)	K69R	unknown	Het
Abca13	A	C	11: 9,244,701 (GRCm39)	D2188A	probably benign	Het
Acad11	T	C	9: 104,001,224 (GRCm39)	M708T	probably damaging	Het
Adam7	T	C	14: 68,748,306 (GRCm39)		probably null	Het
Adgre1	T	A	17: 57,751,060 (GRCm39)	I578N	probably benign	Het
Agbl4	T	C	4: 111,474,419 (GRCm39)	S403P	probably damaging	Het
Ak3	A	G	19: 29,025,192 (GRCm39)	M13T	possibly damaging	Het
Ap2s1	T	C	7: 16,481,305 (GRCm39)		probably benign	Het
Arhgef1	A	T	7: 24,623,224 (GRCm39)		probably benign	Het
Arsk	T	C	13: 76,223,051 (GRCm39)	N182S	probably benign	Het
Aspscr1	G	A	11: 120,569,246 (GRCm39)	V15I	probably damaging	Het
Asxl2	A	G	12: 3,492,487 (GRCm39)	Y24C	probably damaging	Het
Atp8b1	A	G	18: 64,701,323 (GRCm39)	F345S	possibly damaging	Het
Atp8b3	T	C	10: 80,362,743 (GRCm39)	K672E	probably benign	Het
Bltp1	T	A	3: 36,997,331 (GRCm39)	C1129*	probably null	Het
Bmp2k	A	G	5: 97,235,682 (GRCm39)		probably benign	Het
Casp6	T	A	3: 129,704,172 (GRCm39)	V86E	probably benign	Het
Cdca5	A	G	19: 6,140,742 (GRCm39)	E260G	unknown	Het
Cpb2	T	A	14: 75,502,898 (GRCm39)	V159D	probably damaging	Het
Cylc2	T	A	4: 51,228,477 (GRCm39)	S183T	unknown	Het
Dhtkd1	T	A	2: 5,919,699 (GRCm39)	M561L	probably benign	Het
Dync2h1	T	C	9: 7,129,046 (GRCm39)	D1823G	probably benign	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
Erc1	T	C	6: 119,597,289 (GRCm39)	K1003E	probably damaging	Het
Ezr	G	A	17: 7,022,164 (GRCm39)	Q105*	probably null	Het
Fam83d	T	A	2: 158,627,467 (GRCm39)	D385E	probably benign	Het
Fbn2	A	G	18: 58,178,389 (GRCm39)	C1950R	probably damaging	Het
Fbxo32	A	T	15: 58,047,605 (GRCm39)	I236N	probably damaging	Het
Fcgbp	G	T	7: 27,784,918 (GRCm39)		probably null	Het
Foxe3	T	C	4: 114,782,805 (GRCm39)	N136D	probably damaging	Het
Fscn2	A	T	11: 120,258,837 (GRCm39)	I461F	probably damaging	Het
Gldc	A	G	19: 30,093,851 (GRCm39)	I722T	possibly damaging	Het
Gm10717	T	G	9: 3,025,619 (GRCm39)	V68G	possibly damaging	Het
Gm4841	A	G	18: 60,403,718 (GRCm39)	L125S	possibly damaging	Het
Gsto1	A	T	19: 47,846,416 (GRCm39)	I88F	probably damaging	Het
Gucy1b1	T	A	3: 81,945,463 (GRCm39)		probably null	Het
Hhla1	C	A	15: 65,820,352 (GRCm39)	V133F	probably benign	Het
Hipk3	T	A	2: 104,271,593 (GRCm39)	L446F	probably damaging	Het
Hscb	T	C	5: 110,982,556 (GRCm39)	E177G	possibly damaging	Het
Hsd17b6	T	C	10: 127,827,274 (GRCm39)	D266G	probably benign	Het
Ipo4	T	C	14: 55,869,572 (GRCm39)	S363G	probably benign	Het
Kcnip3	A	G	2: 127,301,899 (GRCm39)		probably benign	Het
Klhl41	A	G	2: 69,501,640 (GRCm39)	Y367C	probably damaging	Het
Klk1b4	C	G	7: 43,861,053 (GRCm39)	P232R	possibly damaging	Het
Lcp2	A	G	11: 34,004,322 (GRCm39)	D53G	probably damaging	Het
Llgl2	A	G	11: 115,741,546 (GRCm39)	K559E	probably damaging	Het
Lrrc59	A	C	11: 94,534,248 (GRCm39)	T269P	probably damaging	Het
Mark1	A	G	1: 184,677,149 (GRCm39)	S34P	possibly damaging	Het
Megf11	G	A	9: 64,598,632 (GRCm39)		probably null	Het
Mplkip	A	G	13: 17,871,565 (GRCm39)	I159V	possibly damaging	Het
Muc4	C	A	16: 32,755,690 (GRCm38)		probably benign	Het
Myo18b	A	G	5: 112,841,213 (GRCm39)		probably benign	Het
Myo9b	T	C	8: 71,808,596 (GRCm39)		probably benign	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ndrg3	A	G	2: 156,776,855 (GRCm39)		probably benign	Het
Nfe2l3	T	A	6: 51,434,448 (GRCm39)	M336K	probably benign	Het
Nrxn1	A	C	17: 91,008,170 (GRCm39)		probably null	Het
Nsun3	A	T	16: 62,597,007 (GRCm39)		probably benign	Het
Nuak1	T	C	10: 84,210,315 (GRCm39)	E591G	probably benign	Het
Or10g1b	T	C	14: 52,627,846 (GRCm39)	Y128C	probably damaging	Het
Or10s1	G	A	9: 39,986,010 (GRCm39)	V140I	probably benign	Het
Or1e17	A	T	11: 73,831,773 (GRCm39)	I234F	probably benign	Het
Or4k2	T	C	14: 50,423,789 (GRCm39)	N296S	probably null	Het
Or6c70	T	A	10: 129,709,936 (GRCm39)	Q230L	probably damaging	Het
Or6d15	A	T	6: 116,559,562 (GRCm39)	V115E	probably damaging	Het
Or6z6	T	A	7: 6,491,433 (GRCm39)	M147L	probably benign	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Ovgp1	T	C	3: 105,887,208 (GRCm39)		probably benign	Het
Palm3	T	A	8: 84,755,349 (GRCm39)	V287D	probably damaging	Het
Pde4dip	T	A	3: 97,751,028 (GRCm39)	H62L	probably benign	Het
Pdk4	G	T	6: 5,491,620 (GRCm39)	P100Q	probably damaging	Het
Pdss2	T	A	10: 43,248,172 (GRCm39)	H225Q	probably benign	Het
Pkhd1	A	T	1: 20,345,762 (GRCm39)	D2755E	probably benign	Het
Prune2	A	T	19: 17,098,753 (GRCm39)	D1419V	probably damaging	Het
Pth2r	A	C	1: 65,427,775 (GRCm39)	I483L	probably benign	Het
Qrsl1	A	G	10: 43,772,003 (GRCm39)		probably null	Het
Rab11fip4	A	G	11: 79,577,455 (GRCm39)	H403R	possibly damaging	Het
Ralgapa1	A	T	12: 55,724,023 (GRCm39)	I1548N	probably damaging	Het
Ric8a	T	G	7: 140,437,813 (GRCm39)		probably benign	Het
Rsbn1	T	C	3: 103,821,897 (GRCm39)	F44S	possibly damaging	Het
Serpinc1	T	A	1: 160,817,272 (GRCm39)	M1K	probably null	Het
Sf3b1	T	C	1: 55,058,416 (GRCm39)	I58V	probably damaging	Het
Sh3d19	T	A	3: 86,033,978 (GRCm39)	M777K	probably benign	Het
Sipa1	A	T	19: 5,704,093 (GRCm39)	M743K	probably benign	Het
Skint5	T	C	4: 113,794,818 (GRCm39)	H255R	probably benign	Het
Slco6b1	A	T	1: 96,916,398 (GRCm39)		noncoding transcript	Het
Slfn4	A	T	11: 83,077,777 (GRCm39)	R188S	probably damaging	Het
Sort1	T	C	3: 108,231,908 (GRCm39)		probably benign	Het
Spg21	A	T	9: 65,372,629 (GRCm39)	K20N	possibly damaging	Het
Sptbn2	A	T	19: 4,795,173 (GRCm39)	I1544F	probably benign	Het
Srf	T	C	17: 46,860,415 (GRCm39)	T456A	possibly damaging	Het
Ssbp2	T	A	13: 91,712,715 (GRCm39)		probably benign	Het
Stx2	C	T	5: 129,065,967 (GRCm39)	V230I	probably benign	Het
Sv2b	A	T	7: 74,856,187 (GRCm39)	D34E	possibly damaging	Het
Synpo2l	A	G	14: 20,711,856 (GRCm39)	S255P	probably damaging	Het
Tbx15	C	T	3: 99,259,707 (GRCm39)	P526L	probably damaging	Het
Tenm4	C	A	7: 96,344,157 (GRCm39)	P250Q	possibly damaging	Het
Tgm1	C	A	14: 55,948,384 (GRCm39)		probably benign	Het
Tgm1	T	C	14: 55,950,109 (GRCm39)		probably benign	Het
Thsd7b	A	G	1: 130,123,000 (GRCm39)	I1540V	probably benign	Het
Tnrc6c	A	G	11: 117,630,707 (GRCm39)	K1023E	probably damaging	Het
Ube2l6	A	T	2: 84,636,771 (GRCm39)		probably null	Het
Uty	T	A	Y: 1,169,979 (GRCm39)	I326F	probably damaging	Het
Wdfy4	T	C	14: 32,805,742 (GRCm39)	D1735G	possibly damaging	Het
Wnt11	A	G	7: 98,496,590 (GRCm39)	K177E	probably damaging	Het
Wnt5a	A	T	14: 28,235,225 (GRCm39)	M70L	possibly damaging	Het
Wwc1	T	A	11: 35,743,175 (GRCm39)	E882V	probably damaging	Het
Zfp455	G	T	13: 67,346,728 (GRCm39)		probably null	Het
Zmpste24	A	G	4: 120,940,050 (GRCm39)	Y199H	probably damaging	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
IGL00826:Gnl3	APN	14	30,734,753 (GRCm39)	unclassified	probably benign
IGL02323:Gnl3	APN	14	30,739,359 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TTCCATTTGTCAGGCCCGAAGACC -3'
(R):5'- CCAAATGTGGAAAGTGCTGCTAAGC -3'

Sequencing Primer
(F):5'- GGCCCGAAGACCGAAAAAG -3'
(R):5'- TGGGCATTTTGGAAGACAACTTAG -3'

Posted On

2013-04-16