Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79883932-79924949 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 79904425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126932 (fasta)

Gene Model

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

AlphaFold

Q80U70

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: 66,157,560 (GRCm39)	M1K	probably null	Het
A630073D07Rik	C	T	6: 132,603,457 (GRCm39)	E100K	unknown	Het
Abcc3	T	G	11: 94,254,889 (GRCm39)	D638A	probably benign	Het
Acadm	T	C	3: 153,635,889 (GRCm39)	I272V	probably benign	Het
Adam2	G	A	14: 66,315,107 (GRCm39)	T22I	probably damaging	Het
Aldh3b1	G	A	19: 3,971,271 (GRCm39)		probably benign	Het
Arfgef3	A	T	10: 18,537,135 (GRCm39)	I182K	probably benign	Het
Arhgef17	A	G	7: 100,528,184 (GRCm39)	S677P	probably benign	Het
Atp2b1	T	C	10: 98,832,750 (GRCm39)	V417A	probably damaging	Het
Brca1	T	A	11: 101,388,839 (GRCm39)	H1675L	probably benign	Het
Brd10	A	T	19: 29,720,998 (GRCm39)	S743T	probably damaging	Het
Btd	G	T	14: 31,389,266 (GRCm39)	G329V	probably benign	Het
Capsl	T	A	15: 9,461,916 (GRCm39)	L104*	probably null	Het
Cbx1	T	C	11: 96,693,554 (GRCm39)	S107P	probably benign	Het
Cd207	G	T	6: 83,648,683 (GRCm39)	Y326*	probably null	Het
Cenpp	T	C	13: 49,794,759 (GRCm39)	D136G	probably damaging	Het
Chsy3	A	G	18: 59,309,560 (GRCm39)		probably null	Het
Cntrl	T	A	2: 35,019,827 (GRCm39)	H551Q	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Cybrd1	T	A	2: 70,967,978 (GRCm39)	F183Y	possibly damaging	Het
D5Ertd579e	G	A	5: 36,773,771 (GRCm39)	S208L	probably damaging	Het
Dlg2	A	T	7: 92,036,160 (GRCm39)	K719*	probably null	Het
Dppa1	A	T	11: 46,516,393 (GRCm39)		probably null	Het
Dse	A	G	10: 34,029,284 (GRCm39)	V602A	possibly damaging	Het
Elapor2	T	A	5: 9,529,251 (GRCm39)	I1028K	probably damaging	Het
Elmo1	C	T	13: 20,773,823 (GRCm39)	A611V	possibly damaging	Het
Ets2	T	C	16: 95,516,118 (GRCm39)	S233P	probably benign	Het
Fchsd2	G	A	7: 100,899,645 (GRCm39)		probably benign	Het
Fhip2a	T	C	19: 57,374,737 (GRCm39)	I704T	possibly damaging	Het
Fkbp4	T	C	6: 128,409,453 (GRCm39)	R402G	probably benign	Het
G2e3	T	A	12: 51,400,412 (GRCm39)	D21E	probably benign	Het
Gask1a	A	G	9: 121,794,493 (GRCm39)	T216A	possibly damaging	Het
Gck	A	T	11: 5,852,165 (GRCm39)	N391K	probably damaging	Het
Gm11077	T	A	6: 140,675,017 (GRCm39)	I3N	unknown	Het
Gm6793	T	C	8: 112,741,088 (GRCm39)	M185V	probably benign	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Hat1	T	A	2: 71,251,627 (GRCm39)	Y225*	probably null	Het
Iars2	A	T	1: 185,050,765 (GRCm39)	D441E	probably benign	Het
Ido2	C	A	8: 25,043,776 (GRCm39)	M92I	possibly damaging	Het
Ifne	T	C	4: 88,797,908 (GRCm39)	E170G	probably damaging	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Intu	G	T	3: 40,618,765 (GRCm39)	G257V	probably damaging	Het
Jakmip3	A	G	7: 138,609,316 (GRCm39)	K140R	probably benign	Het
Kcnip3	T	C	2: 127,301,263 (GRCm39)	E237G	probably damaging	Het
Ksr2	A	C	5: 117,643,594 (GRCm39)	E121A	probably benign	Het
Lars1	T	A	18: 42,347,902 (GRCm39)	I974F	probably benign	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lhfpl4	T	A	6: 113,153,394 (GRCm39)	D125V	probably benign	Het
Luc7l	G	A	17: 26,499,030 (GRCm39)		probably benign	Het
Mei1	T	C	15: 82,009,154 (GRCm39)	L833P	probably damaging	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Muc4	C	T	16: 32,576,715 (GRCm39)	R2072C	unknown	Het
Myh3	A	G	11: 66,975,852 (GRCm39)	K295E	probably benign	Het
Ndufaf5	A	G	2: 140,023,509 (GRCm39)	I115V	probably benign	Het
Neb	T	C	2: 52,216,756 (GRCm39)	K140E	probably damaging	Het
Niban1	A	G	1: 151,517,302 (GRCm39)	S104G	possibly damaging	Het
Npas2	A	G	1: 39,339,759 (GRCm39)	D103G	probably benign	Het
Ntrk3	A	T	7: 77,842,352 (GRCm39)	H825Q	possibly damaging	Het
Nup62	T	A	7: 44,478,472 (GRCm39)	S162R	possibly damaging	Het
Or4c108	T	C	2: 88,804,128 (GRCm39)	T36A	possibly damaging	Het
Or5g23	T	A	2: 85,438,409 (GRCm39)	I282F	probably damaging	Het
Or5t7	G	A	2: 86,507,629 (GRCm39)	T16I	possibly damaging	Het
Or8c8	A	G	9: 38,164,986 (GRCm39)	E91G	probably damaging	Het
Orc4	A	G	2: 48,800,305 (GRCm39)	M281T	probably benign	Het
Osbpl5	C	A	7: 143,269,510 (GRCm39)	R22L	probably damaging	Het
Otos	A	G	1: 92,572,185 (GRCm39)	F47S	probably damaging	Het
Parp11	A	G	6: 127,447,740 (GRCm39)	T25A	probably damaging	Het
Pcdhb9	A	C	18: 37,535,137 (GRCm39)	D377A	probably damaging	Het
Pdgfra	C	T	5: 75,331,534 (GRCm39)	S348L	probably benign	Het
Pdlim5	C	A	3: 142,012,060 (GRCm39)		probably null	Het
Peg12	T	C	7: 62,113,416 (GRCm39)	H227R	probably benign	Het
Piezo2	T	C	18: 63,152,415 (GRCm39)	E2559G	probably damaging	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Ppa2	A	T	3: 133,053,858 (GRCm39)	I183F	probably damaging	Het
Pramel48	T	A	5: 95,630,758 (GRCm39)	Y212N	probably benign	Het
Prl2a1	T	C	13: 27,988,923 (GRCm39)	L16P	probably damaging	Het
Rai14	C	A	15: 10,633,314 (GRCm39)	Q25H	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rbm34	C	A	8: 127,697,631 (GRCm39)	A27S	probably benign	Het
Rchy1	T	C	5: 92,099,762 (GRCm39)	D192G	probably damaging	Het
Rexo1	T	C	10: 80,378,754 (GRCm39)	D1094G	probably damaging	Het
Rtl1	T	A	12: 109,556,970 (GRCm39)	D1623V	probably damaging	Het
Ryr2	C	T	13: 11,746,586 (GRCm39)	E1989K	probably benign	Het
Sema6c	A	G	3: 95,078,124 (GRCm39)	E500G	probably damaging	Het
Slc13a1	T	A	6: 24,117,999 (GRCm39)	Y246F	probably damaging	Het
Slc39a9	C	T	12: 80,726,297 (GRCm39)	L249F	probably damaging	Het
Slc6a21	C	T	7: 44,937,252 (GRCm39)	P261S	probably benign	Het
Slco2b1	C	T	7: 99,335,243 (GRCm39)	C179Y	probably damaging	Het
Sox6	T	C	7: 115,258,773 (GRCm39)	N252S	possibly damaging	Het
Spr-ps1	C	T	6: 85,132,885 (GRCm39)		noncoding transcript	Het
Sptbn1	C	A	11: 30,064,781 (GRCm39)	R1906L	possibly damaging	Het
Stac2	T	C	11: 97,943,771 (GRCm39)	D13G	probably benign	Het
Stat5a	G	T	11: 100,764,955 (GRCm39)	R226L	probably damaging	Het
Tas2r144	C	A	6: 42,192,936 (GRCm39)	H225Q	probably benign	Het
Tdo2	T	A	3: 81,867,853 (GRCm39)	M331L	probably benign	Het
Tesk1	T	C	4: 43,447,201 (GRCm39)	W530R	probably damaging	Het
Tlr6	T	C	5: 65,112,172 (GRCm39)	N245S	probably benign	Het
Tnfrsf11a	G	T	1: 105,772,431 (GRCm39)	A573S	probably damaging	Het
Tpbpb	A	T	13: 61,050,344 (GRCm39)		probably benign	Het
Trim24	T	A	6: 37,928,447 (GRCm39)	S590T	probably damaging	Het
Ttll3	G	T	6: 113,369,725 (GRCm39)	A90S	possibly damaging	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp28	T	C	9: 48,928,007 (GRCm39)	V363A	probably damaging	Het
Vcan	A	G	13: 89,838,990 (GRCm39)	S2185P	probably benign	Het
Vmn1r211	T	C	13: 23,035,779 (GRCm39)	H296R	probably benign	Het
Vmn2r3	G	A	3: 64,166,537 (GRCm39)	P865S	probably damaging	Het
Wapl	A	G	14: 34,414,415 (GRCm39)	T426A	probably benign	Het
Wdr37	G	T	13: 8,886,887 (GRCm39)	T300K	probably damaging	Het
Wrap53	A	T	11: 69,452,990 (GRCm39)	V439E	probably null	Het
Wrn	A	G	8: 33,747,249 (GRCm39)	S868P	probably benign	Het
Zfhx4	A	G	3: 5,477,774 (GRCm39)	E3463G	probably damaging	Het
Zfp189	T	A	4: 49,529,283 (GRCm39)	C129S	possibly damaging	Het
Zfp442	T	C	2: 150,250,100 (GRCm39)	K544E	probably damaging	Het
Zfp939	T	A	7: 39,122,728 (GRCm39)		noncoding transcript	Het
Zfyve26	T	C	12: 79,308,573 (GRCm39)	H228R	possibly damaging	Het

Other mutations in Suz12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Suz12	APN	11	79,889,918 (GRCm39)	missense	probably damaging	0.99
IGL00938:Suz12	APN	11	79,898,395 (GRCm39)	splice site	probably benign
IGL01902:Suz12	APN	11	79,916,776 (GRCm39)	missense	probably benign	0.04
IGL02998:Suz12	APN	11	79,920,149 (GRCm39)	missense	probably damaging	1.00
3-1:Suz12	UTSW	11	79,889,875 (GRCm39)	intron	probably benign
R0317:Suz12	UTSW	11	79,889,904 (GRCm39)	missense	probably damaging	1.00
R0453:Suz12	UTSW	11	79,920,859 (GRCm39)	missense	probably damaging	1.00
R1454:Suz12	UTSW	11	79,922,939 (GRCm39)	missense	probably benign
R1470:Suz12	UTSW	11	79,910,558 (GRCm39)	missense	possibly damaging	0.87
R1470:Suz12	UTSW	11	79,910,558 (GRCm39)	missense	possibly damaging	0.87
R1745:Suz12	UTSW	11	79,912,922 (GRCm39)	missense	probably damaging	0.99
R1957:Suz12	UTSW	11	79,889,926 (GRCm39)	missense	probably benign	0.01
R2192:Suz12	UTSW	11	79,913,024 (GRCm39)	missense	probably damaging	1.00
R3003:Suz12	UTSW	11	79,910,587 (GRCm39)	missense	probably damaging	1.00
R3758:Suz12	UTSW	11	79,915,768 (GRCm39)	missense	probably benign	0.00
R4017:Suz12	UTSW	11	79,904,292 (GRCm39)	missense	probably damaging	1.00
R4275:Suz12	UTSW	11	79,920,879 (GRCm39)	missense	probably damaging	1.00
R4366:Suz12	UTSW	11	79,892,988 (GRCm39)	intron	probably benign
R4487:Suz12	UTSW	11	79,922,939 (GRCm39)	missense	probably benign
R4663:Suz12	UTSW	11	79,904,350 (GRCm39)	missense	probably damaging	1.00
R4730:Suz12	UTSW	11	79,892,988 (GRCm39)	intron	probably benign
R4959:Suz12	UTSW	11	79,920,057 (GRCm39)	missense	probably damaging	1.00
R5763:Suz12	UTSW	11	79,916,134 (GRCm39)	nonsense	probably null
R6238:Suz12	UTSW	11	79,893,006 (GRCm39)	intron	probably benign
R6379:Suz12	UTSW	11	79,906,014 (GRCm39)	missense	possibly damaging	0.87
R6880:Suz12	UTSW	11	79,892,998 (GRCm39)	nonsense	probably null
R7122:Suz12	UTSW	11	79,884,419 (GRCm39)	missense	probably damaging	0.99
R7195:Suz12	UTSW	11	79,904,309 (GRCm39)	missense	probably damaging	1.00
R7343:Suz12	UTSW	11	79,910,529 (GRCm39)	missense	probably benign	0.34
R7472:Suz12	UTSW	11	79,915,801 (GRCm39)	missense	probably benign	0.01
R8539:Suz12	UTSW	11	79,889,904 (GRCm39)	missense	probably damaging	1.00
R8555:Suz12	UTSW	11	79,922,817 (GRCm39)	missense	probably damaging	1.00
R9050:Suz12	UTSW	11	79,913,023 (GRCm39)	missense	probably damaging	0.99
R9263:Suz12	UTSW	11	79,904,087 (GRCm39)	intron	probably benign
R9632:Suz12	UTSW	11	79,915,748 (GRCm39)	missense	possibly damaging	0.47
R9740:Suz12	UTSW	11	79,889,920 (GRCm39)	nonsense	probably null
X0023:Suz12	UTSW	11	79,920,066 (GRCm39)	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