Mutagenetix > Incidental Mutations

Incidental Mutation 'R1868:Suz12'

208977

Institutional Source

Beutler Lab

Gene Symbol

Suz12

Ensembl Gene

ENSMUSG00000017548

Gene Name

SUZ12 polycomb repressive complex 2 subunit

Synonyms

2610028O16Rik, D11Ertd530e

MMRRC Submission

039890-MU

Accession Numbers

Genbank: NM_199196, NM_001163018; MGI: 1261758

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79993106-80034123 bp(+) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 80013599 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017692] [ENSMUST00000163272]

Predicted Effect

probably null
Transcript: ENSMUST00000017692

SMART Domains

Protein: ENSMUSP00000017692
Gene: ENSMUSG00000017548

Domain	Start	End	E-Value	Type
SCOP:d1g66a_	23	70	5e-3	SMART
ZnF_C2H2	450	473	4.45e0	SMART
Pfam:VEFS-Box	548	682	3e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126091

SMART Domains

Protein: ENSMUSP00000129070
Gene: ENSMUSG00000017548

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148140

Predicted Effect

probably null
Transcript: ENSMUST00000163272

SMART Domains

Protein: ENSMUSP00000126932
Gene: ENSMUSG00000017548

Domain	Start	End	E-Value	Type
SCOP:d1g66a_	23	70	6e-3	SMART
ZnF_C2H2	427	450	4.45e0	SMART
Pfam:VEFS-Box	523	660	2.4e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181152

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

97% (115/118)

MGI Phenotype

FUNCTION: This gene encodes a core component of the polycomb repressive complex 2 (PRC2) that also includes, at least, embryonic ectoderm development protein (EED) and enhancer of zeste homolog 1 or 2 (EZH1 or EZH2). Through the methyltransferase activity of EZH1 or EZH2, the PRC2 complex methylates Lys9 and Lys27 of histone 3 and Lys26 of histone 1, leading to recruitment of the PRC1 complex, histone 2A ubiquitylation and transcriptional repression of the target genes. This gene product is essential for the activity and integrity of the PRC2 complex, and is required for X chromosome inactivation, stem cell maintenance and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygous null mice die during early postimplantation stages with failure of embryonic and extraembyronic tissues and organogenesis. Mice heterozygous for a knock-out allele exhibit abnormal brain and spinal cord development with varying penetrance. [provided by MGI curators]

Allele List at MGI

All alleles(35) : Targeted, knock-out(1) Targeted, other(3) Gene trapped(30) Chemically induced(1)

Other mutations in this stock

Total: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	T	5: 66,000,217	M1K	probably null	Het
9330182L06Rik	T	A	5: 9,479,251	I1028K	probably damaging	Het
9930021J03Rik	A	T	19: 29,743,598	S743T	probably damaging	Het
A630073D07Rik	C	T	6: 132,626,494	E100K	unknown	Het
Abcc3	T	G	11: 94,364,063	D638A	probably benign	Het
Acadm	T	C	3: 153,930,252	I272V	probably benign	Het
Adam2	G	A	14: 66,077,658	T22I	probably damaging	Het
Aldh3b1	G	A	19: 3,921,271		probably benign	Het
Arfgef3	A	T	10: 18,661,387	I182K	probably benign	Het
Arhgef17	A	G	7: 100,878,977	S677P	probably benign	Het
Atp2b1	T	C	10: 98,996,888	V417A	probably damaging	Het
Brca1	T	A	11: 101,498,013	H1675L	probably benign	Het
Btd	G	T	14: 31,667,309	G329V	probably benign	Het
Capsl	T	A	15: 9,461,830	L104*	probably null	Het
Cbx1	T	C	11: 96,802,728	S107P	probably benign	Het
Cd207	G	T	6: 83,671,701	Y326*	probably null	Het
Cenpp	T	C	13: 49,641,283	D136G	probably damaging	Het
Chsy3	A	G	18: 59,176,488		probably null	Het
Cntrl	T	A	2: 35,129,815	H551Q	probably benign	Het
Col14a1	T	A	15: 55,447,462		probably benign	Het
Cybrd1	T	A	2: 71,137,634	F183Y	possibly damaging	Het
D5Ertd577e	T	A	5: 95,482,899	Y212N	probably benign	Het
D5Ertd579e	G	A	5: 36,616,427	S208L	probably damaging	Het
Dlg2	A	T	7: 92,386,952	K719*	probably null	Het
Dppa1	A	T	11: 46,625,566		probably null	Het
Dse	A	G	10: 34,153,288	V602A	possibly damaging	Het
Elmo1	C	T	13: 20,589,653	A611V	possibly damaging	Het
Ets2	T	C	16: 95,715,074	S233P	probably benign	Het
Fam129a	A	G	1: 151,641,551	S104G	possibly damaging	Het
Fam160b1	T	C	19: 57,386,305	I704T	possibly damaging	Het
Fam198a	A	G	9: 121,965,427	T216A	possibly damaging	Het
Fchsd2	G	A	7: 101,250,438		probably benign	Het
Fkbp4	T	C	6: 128,432,490	R402G	probably benign	Het
G2e3	T	A	12: 51,353,629	D21E	probably benign	Het
Gck	A	T	11: 5,902,165	N391K	probably damaging	Het
Gm11077	T	A	6: 140,729,291	I3N	unknown	Het
Gm13762	T	C	2: 88,973,784	T36A	possibly damaging	Het
Gm6793	T	C	8: 112,014,456	M185V	probably benign	Het
Gucy2d	T	A	7: 98,454,061	L504H	probably damaging	Het
Hat1	T	A	2: 71,421,283	Y225*	probably null	Het
Iars2	A	T	1: 185,318,568	D441E	probably benign	Het
Ido2	C	A	8: 24,553,760	M92I	possibly damaging	Het
Ifne	T	C	4: 88,879,671	E170G	probably damaging	Het
Ints8	C	A	4: 11,241,684	C253F	probably damaging	Het
Intu	G	T	3: 40,664,335	G257V	probably damaging	Het
Jakmip3	A	G	7: 139,007,587	K140R	probably benign	Het
Kcnip3	T	C	2: 127,459,343	E237G	probably damaging	Het
Ksr2	A	C	5: 117,505,529	E121A	probably benign	Het
Lars	T	A	18: 42,214,837	I974F	probably benign	Het
Lce1b	A	G	3: 92,656,011	S72P	unknown	Het
Lhfpl4	T	A	6: 113,176,433	D125V	probably benign	Het
Luc7l	G	A	17: 26,280,056		probably benign	Het
Mei1	T	C	15: 82,124,953	L833P	probably damaging	Het
Mier2	A	G	10: 79,548,830	V150A	probably damaging	Het
Muc4	C	T	16: 32,756,341	R2072C	unknown	Het
Myh3	A	G	11: 67,085,026	K295E	probably benign	Het
Ndufaf5	A	G	2: 140,181,589	I115V	probably benign	Het
Neb	T	C	2: 52,326,744	K140E	probably damaging	Het
Npas2	A	G	1: 39,300,678	D103G	probably benign	Het
Ntrk3	A	T	7: 78,192,604	H825Q	possibly damaging	Het
Nup62	T	A	7: 44,829,048	S162R	possibly damaging	Het
Olfr1000	T	A	2: 85,608,065	I282F	probably damaging	Het
Olfr1086	G	A	2: 86,677,285	T16I	possibly damaging	Het
Olfr143	A	G	9: 38,253,690	E91G	probably damaging	Het
Orc4	A	G	2: 48,910,293	M281T	probably benign	Het
Osbpl5	C	A	7: 143,715,773	R22L	probably damaging	Het
Otos	A	G	1: 92,644,463	F47S	probably damaging	Het
Parp11	A	G	6: 127,470,777	T25A	probably damaging	Het
Pcdhb9	A	C	18: 37,402,084	D377A	probably damaging	Het
Pdgfra	C	T	5: 75,170,873	S348L	probably benign	Het
Pdlim5	C	A	3: 142,306,299		probably null	Het
Peg12	T	C	7: 62,463,668	H227R	probably benign	Het
Piezo2	T	C	18: 63,019,344	E2559G	probably damaging	Het
Pnisr	C	T	4: 21,874,086		probably benign	Het
Ppa2	A	T	3: 133,348,097	I183F	probably damaging	Het
Prl2a1	T	C	13: 27,804,940	L16P	probably damaging	Het
Rai14	C	A	15: 10,633,228	Q25H	probably damaging	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Rbm34	C	A	8: 126,970,881	A27S	probably benign	Het
Rchy1	T	C	5: 91,951,903	D192G	probably damaging	Het
Rexo1	T	C	10: 80,542,920	D1094G	probably damaging	Het
Rtl1	T	A	12: 109,590,536	D1623V	probably damaging	Het
Ryr2	C	T	13: 11,731,700	E1989K	probably benign	Het
Sema6c	A	G	3: 95,170,813	E500G	probably damaging	Het
Slc13a1	T	A	6: 24,118,000	Y246F	probably damaging	Het
Slc39a9	C	T	12: 80,679,523	L249F	probably damaging	Het
Slc6a21	C	T	7: 45,287,828	P261S	probably benign	Het
Slco2b1	C	T	7: 99,686,036	C179Y	probably damaging	Het
Sox6	T	C	7: 115,659,538	N252S	possibly damaging	Het
Spr-ps1	C	T	6: 85,155,903		noncoding transcript	Het
Sptbn1	C	A	11: 30,114,781	R1906L	possibly damaging	Het
Stac2	T	C	11: 98,052,945	D13G	probably benign	Het
Stat5a	G	T	11: 100,874,129	R226L	probably damaging	Het
Tas2r144	C	A	6: 42,216,002	H225Q	probably benign	Het
Tdo2	T	A	3: 81,960,546	M331L	probably benign	Het
Tesk1	T	C	4: 43,447,201	W530R	probably damaging	Het
Tlr6	T	C	5: 64,954,829	N245S	probably benign	Het
Tnfrsf11a	G	T	1: 105,844,705	A573S	probably damaging	Het
Tpbpb	A	T	13: 60,902,530		probably benign	Het
Trim24	T	A	6: 37,951,512	S590T	probably damaging	Het
Ttll3	G	T	6: 113,392,764	A90S	possibly damaging	Het
Ubr5	A	T	15: 38,041,846	S169T	probably benign	Het
Usp28	T	C	9: 49,016,707	V363A	probably damaging	Het
Vcan	A	G	13: 89,690,871	S2185P	probably benign	Het
Vmn1r211	T	C	13: 22,851,609	H296R	probably benign	Het
Vmn2r3	G	A	3: 64,259,116	P865S	probably damaging	Het
Wapl	A	G	14: 34,692,458	T426A	probably benign	Het
Wdr37	G	T	13: 8,836,851	T300K	probably damaging	Het
Wrap53	A	T	11: 69,562,164	V439E	probably null	Het
Wrn	A	G	8: 33,257,221	S868P	probably benign	Het
Zfhx4	A	G	3: 5,412,714	E3463G	probably damaging	Het
Zfp189	T	A	4: 49,529,283	C129S	possibly damaging	Het
Zfp442	T	C	2: 150,408,180	K544E	probably damaging	Het
Zfp939	T	A	7: 39,473,304		noncoding transcript	Het
Zfyve26	T	C	12: 79,261,799	H228R	possibly damaging	Het

Other mutations in Suz12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Suz12	APN	11	79999092	missense	probably damaging	0.99
IGL00938:Suz12	APN	11	80007569	splice site	probably benign
IGL01902:Suz12	APN	11	80025950	missense	probably benign	0.04
IGL02998:Suz12	APN	11	80029323	missense	probably damaging	1.00
3-1:Suz12	UTSW	11	79999049	intron	probably benign
R0317:Suz12	UTSW	11	79999078	missense	probably damaging	1.00
R0453:Suz12	UTSW	11	80030033	missense	probably damaging	1.00
R1454:Suz12	UTSW	11	80032113	missense	probably benign
R1470:Suz12	UTSW	11	80019732	missense	possibly damaging	0.87
R1470:Suz12	UTSW	11	80019732	missense	possibly damaging	0.87
R1745:Suz12	UTSW	11	80022096	missense	probably damaging	0.99
R1957:Suz12	UTSW	11	79999100	missense	probably benign	0.01
R2192:Suz12	UTSW	11	80022198	missense	probably damaging	1.00
R3003:Suz12	UTSW	11	80019761	missense	probably damaging	1.00
R3758:Suz12	UTSW	11	80024942	missense	probably benign	0.00
R4017:Suz12	UTSW	11	80013466	missense	probably damaging	1.00
R4275:Suz12	UTSW	11	80030053	missense	probably damaging	1.00
R4366:Suz12	UTSW	11	80002162	intron	probably benign
R4487:Suz12	UTSW	11	80032113	missense	probably benign
R4663:Suz12	UTSW	11	80013524	missense	probably damaging	1.00
R4730:Suz12	UTSW	11	80002162	intron	probably benign
R4959:Suz12	UTSW	11	80029231	missense	probably damaging	1.00
R5763:Suz12	UTSW	11	80025308	nonsense	probably null
R6238:Suz12	UTSW	11	80002180	intron	probably benign
R6379:Suz12	UTSW	11	80015188	missense	possibly damaging	0.87
R6880:Suz12	UTSW	11	80002172	nonsense	probably null
R7122:Suz12	UTSW	11	79993593	missense	probably damaging	0.99
R7195:Suz12	UTSW	11	80013483	missense	probably damaging	1.00
R7343:Suz12	UTSW	11	80019703	missense	probably benign	0.34
R7472:Suz12	UTSW	11	80024975	missense	probably benign	0.01
X0023:Suz12	UTSW	11	80029240	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTGCCTTTGAATCCTGACC -3'
(R):5'- GGTTTACTTTATCCTTGAGACCATC -3'

Sequencing Primer
(F):5'- TTTGAATCCTGACCTCAATCAAAC -3'
(R):5'- ACATTTTCAGTGACCACTTT -3'

Posted On

2014-06-30