Mutagenetix > Incidental Mutation

Incidental Mutation 'R1470:Suz12'

197989

Institutional Source

Beutler Lab

Gene Symbol

Suz12

Ensembl Gene

ENSMUSG00000017548

Gene Name

SUZ12 polycomb repressive complex 2 subunit

Synonyms

2610028O16Rik, D11Ertd530e

MMRRC Submission

039523-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79883932-79924949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79910558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 303 (E303V)

Ref Sequence

ENSEMBL: ENSMUSP00000126932 (fasta)

Gene Model

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

AlphaFold

Q80U70

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017692
AA Change: E326V

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000017692
Gene: ENSMUSG00000017548
AA Change: E326V

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

possibly damaging
Transcript: ENSMUST00000163272
AA Change: E303V

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126932
Gene: ENSMUSG00000017548
AA Change: E303V

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

0.0932

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

97% (125/129)

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: 142 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,944,337 (GRCm39)	S749T	unknown	Het
Abcb4	A	T	5: 8,990,968 (GRCm39)	I843F	probably damaging	Het
Abcb6	A	T	1: 75,149,323 (GRCm39)		probably benign	Het
AC238840.1	A	T	7: 38,467,377 (GRCm39)		noncoding transcript	Het
Actr8	T	A	14: 29,708,926 (GRCm39)	H244Q	possibly damaging	Het
Acyp2	A	G	11: 30,456,452 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,530,417 (GRCm39)	Y5886H	probably benign	Het
Afap1	C	T	5: 36,119,081 (GRCm39)		probably benign	Het
Agk	T	A	6: 40,363,751 (GRCm39)	W244R	probably damaging	Het
Akirin1	T	A	4: 123,631,883 (GRCm39)		probably benign	Het
Ankrd11	C	A	8: 123,626,463 (GRCm39)	V161L	probably damaging	Het
Arap3	T	C	18: 38,122,249 (GRCm39)		probably null	Het
Arhgap29	A	G	3: 121,785,968 (GRCm39)		probably benign	Het
Armc3	A	G	2: 19,243,547 (GRCm39)	M88V	probably benign	Het
Atp13a5	G	T	16: 29,167,833 (GRCm39)	P109T	probably benign	Het
Avpr1b	T	A	1: 131,528,323 (GRCm39)	V282D	probably damaging	Het
Baz2b	T	C	2: 59,808,890 (GRCm39)	K120E	possibly damaging	Het
Bltp1	T	C	3: 37,052,480 (GRCm39)	M3060T	probably benign	Het
Cacna1a	T	A	8: 85,241,579 (GRCm39)		probably benign	Het
Cacng6	G	A	7: 3,473,404 (GRCm39)	C76Y	probably damaging	Het
Cactin	G	T	10: 81,158,985 (GRCm39)	E279*	probably null	Het
Car9	A	G	4: 43,510,222 (GRCm39)	Y268C	probably damaging	Het
Ccdc146	T	A	5: 21,524,564 (GRCm39)	I263F	probably damaging	Het
Cdc16	A	T	8: 13,808,992 (GRCm39)		probably benign	Het
Cdh16	T	G	8: 105,345,003 (GRCm39)	S429R	probably benign	Het
Cep250	A	G	2: 155,832,995 (GRCm39)	E1639G	probably damaging	Het
Ces1d	A	T	8: 93,921,649 (GRCm39)	V38D	possibly damaging	Het
Chd1	A	T	17: 15,946,545 (GRCm39)	Q97L	possibly damaging	Het
Ciita	G	A	16: 10,332,332 (GRCm39)	D898N	possibly damaging	Het
Clstn1	A	G	4: 149,719,179 (GRCm39)	N336S	possibly damaging	Het
Cntnap5a	A	G	1: 116,187,249 (GRCm39)	D607G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col20a1	C	T	2: 180,636,753 (GRCm39)	H245Y	probably benign	Het
Coq8b	A	T	7: 26,951,734 (GRCm39)	T399S	probably benign	Het
Cpn2	A	G	16: 30,079,003 (GRCm39)	S233P	probably benign	Het
Cryz	G	A	3: 154,312,113 (GRCm39)	G70D	probably damaging	Het
Csmd1	G	T	8: 16,207,218 (GRCm39)		probably benign	Het
Def6	T	A	17: 28,444,956 (GRCm39)	D451E	possibly damaging	Het
Dnah8	T	A	17: 30,966,251 (GRCm39)	C2480*	probably null	Het
Dnah9	T	C	11: 65,818,648 (GRCm39)	N3230S	probably benign	Het
Dyrk4	G	T	6: 126,893,337 (GRCm39)	S15*	probably null	Het
Erc1	T	C	6: 119,671,563 (GRCm39)	R917G	probably damaging	Het
Fgd2	T	A	17: 29,593,082 (GRCm39)		probably benign	Het
Frem3	G	T	8: 81,337,820 (GRCm39)	V38L	probably benign	Het
Gas2l3	T	C	10: 89,249,796 (GRCm39)	I441V	probably benign	Het
Gm14393	T	A	2: 174,905,774 (GRCm39)	Y6F	probably damaging	Het
Gm1527	A	G	3: 28,969,417 (GRCm39)	K256E	possibly damaging	Het
Gm21905	G	T	5: 68,103,740 (GRCm39)		probably benign	Het
Gtf2ird1	T	A	5: 134,424,656 (GRCm39)		probably null	Het
Hmces	C	A	6: 87,913,121 (GRCm39)	T292K	probably benign	Het
Hpse2	G	A	19: 43,376,692 (GRCm39)	S20L	probably benign	Het
Ift70b	G	T	2: 75,768,155 (GRCm39)	S199R	probably benign	Het
Ikbke	A	T	1: 131,204,224 (GRCm39)	V23E	probably null	Het
Ino80	A	T	2: 119,210,130 (GRCm39)	V1387E	probably damaging	Het
Islr	G	T	9: 58,064,589 (GRCm39)	A306D	probably damaging	Het
Jakmip1	G	A	5: 37,258,182 (GRCm39)	G276D	probably damaging	Het
Jchain	A	G	5: 88,673,979 (GRCm39)	V55A	probably benign	Het
Kalrn	T	C	16: 34,007,841 (GRCm39)	K1350E	probably damaging	Het
Kansl1l	T	C	1: 66,841,156 (GRCm39)	Q48R	possibly damaging	Het
Kmt5a	T	C	5: 124,585,334 (GRCm39)	L23P	probably damaging	Het
Lrba	C	T	3: 86,644,449 (GRCm39)	H381Y	probably damaging	Het
Lrch3	T	C	16: 32,808,865 (GRCm39)		probably benign	Het
Lrrc32	T	C	7: 98,148,564 (GRCm39)	V448A	probably benign	Het
Mapkbp1	T	C	2: 119,848,301 (GRCm39)	M617T	probably damaging	Het
Megf6	C	T	4: 154,336,876 (GRCm39)		probably benign	Het
Mfap1a	T	C	2: 121,333,282 (GRCm39)	M50V	probably benign	Het
Mgam	G	T	6: 40,736,062 (GRCm39)	A854S	probably damaging	Het
Myh3	A	C	11: 66,988,885 (GRCm39)		probably benign	Het
Myo18b	C	A	5: 112,840,899 (GRCm39)	R2298L	probably damaging	Het
Myo1h	T	A	5: 114,457,765 (GRCm39)	M92K	probably damaging	Het
Nfkbib	T	C	7: 28,461,447 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,303,950 (GRCm39)	T192S	probably benign	Het
Nr2f1	A	T	13: 78,346,284 (GRCm39)	Y137N	possibly damaging	Het
Nup98	T	A	7: 101,796,513 (GRCm39)	D841V	probably damaging	Het
Nvl	A	G	1: 180,966,827 (GRCm39)	V59A	probably damaging	Het
Ogdhl	C	A	14: 32,068,745 (GRCm39)	N948K	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or12j3	A	G	7: 139,953,026 (GRCm39)	S166P	probably benign	Het
Or13a24	A	G	7: 140,154,662 (GRCm39)	T199A	probably benign	Het
Or51g1	A	C	7: 102,633,530 (GRCm39)	Y280*	probably null	Het
Orc2	A	C	1: 58,520,317 (GRCm39)		probably benign	Het
Osgin1	G	A	8: 120,171,704 (GRCm39)	R166H	probably damaging	Het
Palb2	A	T	7: 121,706,746 (GRCm39)	F741I	probably benign	Het
Palb2	G	T	7: 121,706,747 (GRCm39)	Y740*	probably null	Het
Parvb	G	A	15: 84,155,453 (GRCm39)	G46D	probably damaging	Het
Parvb	G	A	15: 84,155,509 (GRCm39)	D65N	probably benign	Het
Pcsk2	A	T	2: 143,388,438 (GRCm39)	K10*	probably null	Het
Pde3a	C	T	6: 141,411,932 (GRCm39)	A502V	probably benign	Het
Pfas	T	C	11: 68,882,185 (GRCm39)	I893V	probably benign	Het
Pla2g4a	A	T	1: 149,716,471 (GRCm39)	D663E	probably damaging	Het
Prickle2	G	A	6: 92,435,583 (GRCm39)	P6L	probably damaging	Het
Prx	T	A	7: 27,217,026 (GRCm39)	M648K	probably benign	Het
Ptpn21	T	C	12: 98,654,735 (GRCm39)	N744S	probably benign	Het
Ptprq	C	T	10: 107,554,435 (GRCm39)	V97M	probably damaging	Het
Pvr	T	C	7: 19,652,549 (GRCm39)	E122G	possibly damaging	Het
Racgap1	T	C	15: 99,537,656 (GRCm39)	K15E	probably damaging	Het
Rock1	C	T	18: 10,136,091 (GRCm39)		probably null	Het
Rorc	T	A	3: 94,304,609 (GRCm39)	Y331*	probably null	Het
Rpl37	T	C	15: 5,148,096 (GRCm39)	V91A	probably benign	Het
Rrp36	T	A	17: 46,983,306 (GRCm39)	K103*	probably null	Het
Ryr3	T	A	2: 112,483,352 (GRCm39)	M4142L	probably benign	Het
Sash1	A	T	10: 8,665,357 (GRCm39)	L125H	probably damaging	Het
Scn5a	T	C	9: 119,365,541 (GRCm39)	M369V	possibly damaging	Het
Siglec1	A	T	2: 130,912,307 (GRCm39)	N1678K	probably benign	Het
Slc15a5	A	T	6: 138,049,992 (GRCm39)	V141E	probably benign	Het
Slc43a1	T	C	2: 84,690,020 (GRCm39)		probably benign	Het
Slc8a3	A	T	12: 81,246,484 (GRCm39)	H856Q	probably benign	Het
Spmip11	T	C	15: 98,483,142 (GRCm39)		probably benign	Het
Sptlc2	T	A	12: 87,402,414 (GRCm39)	M171L	probably benign	Het
Srcap	T	A	7: 127,158,899 (GRCm39)		probably benign	Het
St6gal2	A	G	17: 55,797,944 (GRCm39)	D310G	probably damaging	Het
Susd2	T	A	10: 75,473,888 (GRCm39)	D689V	probably damaging	Het
Taldo1	C	A	7: 140,978,500 (GRCm39)	T150K	probably damaging	Het
Tex14	T	C	11: 87,440,355 (GRCm39)		probably benign	Het
Tg	T	A	15: 66,721,312 (GRCm39)	F274I	possibly damaging	Het
Tmem151b	T	C	17: 45,856,663 (GRCm39)	D259G	probably damaging	Het
Tmem179	G	T	12: 112,468,288 (GRCm39)	H64Q	probably benign	Het
Tmem236	A	G	2: 14,223,732 (GRCm39)	T174A	probably benign	Het
Tmtc1	T	A	6: 148,207,483 (GRCm39)		probably benign	Het
Tnc	A	T	4: 63,884,811 (GRCm39)	N1821K	probably damaging	Het
Tnfrsf11a	A	G	1: 105,752,773 (GRCm39)	N261S	probably damaging	Het
Traf6	G	T	2: 101,526,994 (GRCm39)		probably benign	Het
Trank1	C	A	9: 111,172,300 (GRCm39)	F96L	possibly damaging	Het
Trim56	T	A	5: 137,142,017 (GRCm39)	I500F	probably damaging	Het
Ttll5	A	G	12: 85,926,168 (GRCm39)	I321V	possibly damaging	Het
Ttn	C	A	2: 76,608,367 (GRCm39)	W17852L	probably damaging	Het
Twnk	G	A	19: 44,997,820 (GRCm39)	V450M	probably damaging	Het
Uba52	A	G	8: 70,962,206 (GRCm39)	I127T	possibly damaging	Het
Ubr4	T	A	4: 139,148,537 (GRCm39)		probably null	Het
Uggt1	A	T	1: 36,215,877 (GRCm39)	M130K	probably benign	Het
Ulk4	T	A	9: 120,910,722 (GRCm39)	T1101S	probably benign	Het
Urb1	A	G	16: 90,548,902 (GRCm39)	S2269P	probably benign	Het
Ush2a	G	T	1: 188,132,403 (GRCm39)	R875L	probably benign	Het
Usp9y	T	A	Y: 1,332,471 (GRCm39)	H1624L	probably benign	Homo
Vipr1	T	C	9: 121,494,586 (GRCm39)	L308S	possibly damaging	Het
Vps50	G	A	6: 3,517,777 (GRCm39)		probably benign	Het
Xdh	T	G	17: 74,198,107 (GRCm39)	K1260T	probably damaging	Het
Yipf4	A	G	17: 74,800,963 (GRCm39)	I94V	probably benign	Het
Zfhx4	A	G	3: 5,478,206 (GRCm39)	*3582W	probably null	Het
Zfp58	T	C	13: 67,640,144 (GRCm39)	N116D	possibly damaging	Het
Zfp750	C	A	11: 121,402,819 (GRCm39)	R643L	probably benign	Het
Znfx1	A	G	2: 166,884,507 (GRCm39)	V51A	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
R1745:Suz12	UTSW	11	79,912,922 (GRCm39)	missense	probably damaging	0.99
R1868:Suz12	UTSW	11	79,904,425 (GRCm39)	splice site	probably null
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'- GGGTGTGTATTACTCAAAGACAGCCTG -3'
(R):5'- ATTCGGTGGGAAAAGGCACTCC -3'

Sequencing Primer
(F):5'- AAGACAGCCTGCTTAACATTTTCC -3'
(R):5'- TGACAACCACAGTAGGTGCA -3'

Posted On

2014-05-23