Mutagenetix > Incidental Mutation

Incidental Mutation 'R7122:Suz12'

552096

Institutional Source

Beutler Lab

Gene Symbol

Suz12

Ensembl Gene

ENSMUSG00000017548

Gene Name

SUZ12 polycomb repressive complex 2 subunit

Synonyms

2610028O16Rik, D11Ertd530e

MMRRC Submission

045245-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79883932-79924949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79884419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 92 (F92I)

Ref Sequence

ENSEMBL: ENSMUSP00000017692 (fasta)

Gene Model

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

AlphaFold

Q80U70

Predicted Effect

probably damaging
Transcript: ENSMUST00000017692
AA Change: F92I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000017692
Gene: ENSMUSG00000017548
AA Change: F92I

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

probably damaging
Transcript: ENSMUST00000163272
AA Change: F92I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126932
Gene: ENSMUSG00000017548
AA Change: F92I

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

Meta Mutation Damage Score

0.6802

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (75/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	T	A	13: 4,561,275 (GRCm39)	E126V	probably benign	Het
Alg3	A	T	16: 20,426,602 (GRCm39)	L213H	probably damaging	Het
Atp1a4	T	A	1: 172,059,503 (GRCm39)	Y863F	possibly damaging	Het
Atp6v0e	A	G	17: 26,914,390 (GRCm39)	T72A	probably benign	Het
Aup1	A	G	6: 83,032,123 (GRCm39)	T97A	probably benign	Het
Bcl6	T	C	16: 23,791,652 (GRCm39)	D234G	probably damaging	Het
Cdc42bpa	T	C	1: 179,892,583 (GRCm39)	L249P	probably damaging	Het
Celsr3	A	G	9: 108,705,766 (GRCm39)	K750E	possibly damaging	Het
Ces1g	C	A	8: 94,043,665 (GRCm39)	G425C	possibly damaging	Het
Chl1	T	C	6: 103,683,409 (GRCm39)	L745P	probably damaging	Het
Csmd2	G	A	4: 128,343,020 (GRCm39)	V1471M		Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
E4f1	G	A	17: 24,663,808 (GRCm39)	Q569*	probably null	Het
Efcab3	A	T	11: 104,899,787 (GRCm39)	I4350F	possibly damaging	Het
Fbxw24	A	T	9: 109,430,328 (GRCm39)	C439S	probably benign	Het
Ftdc2	C	A	16: 58,458,140 (GRCm39)	A54S	probably benign	Het
Gmip	C	T	8: 70,270,452 (GRCm39)	P721S	probably benign	Het
Grip1	A	G	10: 119,871,279 (GRCm39)	I669V	possibly damaging	Het
Gsn	A	T	2: 35,185,061 (GRCm39)	K339*	probably null	Het
Herc1	G	T	9: 66,307,056 (GRCm39)	A959S	possibly damaging	Het
Hic1	A	G	11: 75,060,056 (GRCm39)	V97A	probably benign	Het
Il11ra1	A	G	4: 41,766,189 (GRCm39)	Y242C	probably damaging	Het
Iqsec3	A	C	6: 121,450,317 (GRCm39)	V69G	unknown	Het
Jak3	T	A	8: 72,138,601 (GRCm39)	M933K	probably damaging	Het
Kbtbd7	G	A	14: 79,665,757 (GRCm39)	V530I	probably damaging	Het
Kif22	G	A	7: 126,632,150 (GRCm39)	R345C	probably benign	Het
Klhl7	G	A	5: 24,343,433 (GRCm39)	E250K	probably damaging	Het
Klk1b4	A	G	7: 43,860,531 (GRCm39)	H183R	probably damaging	Het
Lhfpl4	C	T	6: 113,153,632 (GRCm39)	V140I	probably benign	Het
Lhx5	T	A	5: 120,574,410 (GRCm39)	M238K	probably benign	Het
Lin28b	A	T	10: 45,345,244 (GRCm39)	H27Q	probably benign	Het
Mgat4c	A	T	10: 102,214,070 (GRCm39)	R18*	probably null	Het
Myct1	C	A	10: 5,554,492 (GRCm39)	H120N	probably damaging	Het
Nek1	A	T	8: 61,559,829 (GRCm39)	D984V	probably benign	Het
Nfu1	A	T	6: 86,986,863 (GRCm39)		probably benign	Het
Nipsnap1	A	T	11: 4,833,366 (GRCm39)		probably null	Het
Nlrp9c	A	G	7: 26,085,046 (GRCm39)	Y178H	probably damaging	Het
Nrxn3	T	A	12: 89,477,377 (GRCm39)	M520K	probably damaging	Het
Oacyl	A	G	18: 65,853,323 (GRCm39)	D143G	probably benign	Het
Obox5	A	G	7: 15,492,732 (GRCm39)	Y229C	probably damaging	Het
Or1j12	A	G	2: 36,342,702 (GRCm39)	Y35C	probably damaging	Het
Or1j18	G	A	2: 36,624,436 (GRCm39)	M34I	probably benign	Het
Or2a5	T	C	6: 42,874,024 (GRCm39)	V213A	probably damaging	Het
Or52n5	T	C	7: 104,588,405 (GRCm39)	L224P	probably damaging	Het
Otogl	C	T	10: 107,702,515 (GRCm39)	A713T	probably benign	Het
Pcdhb17	A	C	18: 37,619,566 (GRCm39)	N452T	probably benign	Het
Pi16	A	G	17: 29,545,313 (GRCm39)	Y192C	probably damaging	Het
Pla2g5	T	C	4: 138,531,830 (GRCm39)	D58G	probably damaging	Het
Plpp4	G	T	7: 128,981,207 (GRCm39)	V153F	unknown	Het
Plxna2	C	A	1: 194,326,876 (GRCm39)	S270*	probably null	Het
Pole	T	A	5: 110,472,968 (GRCm39)		probably null	Het
Prmt7	T	C	8: 106,961,732 (GRCm39)	F215S	unknown	Het
Ptpn21	C	T	12: 98,655,171 (GRCm39)	V599I	probably damaging	Het
Rab26	C	A	17: 24,749,652 (GRCm39)	R131L	probably damaging	Het
Raph1	A	T	1: 60,565,136 (GRCm39)	V117D	probably benign	Het
Sacs	T	C	14: 61,447,845 (GRCm39)	V3297A	probably damaging	Het
Serpine1	C	A	5: 137,095,796 (GRCm39)	A262S	probably benign	Het
Sgf29	A	G	7: 126,271,221 (GRCm39)	D193G	probably null	Het
Sh3rf2	G	A	18: 42,237,227 (GRCm39)		probably null	Het
Sipa1l1	T	C	12: 82,469,236 (GRCm39)	V1245A	possibly damaging	Het
Slc22a7	A	G	17: 46,749,224 (GRCm39)	L31P	probably damaging	Het
Slc24a5	G	A	2: 124,930,111 (GRCm39)	V471I	probably benign	Het
Slc26a7	A	T	4: 14,533,639 (GRCm39)	Y395N	probably damaging	Het
Slc38a2	T	C	15: 96,591,182 (GRCm39)	M229V	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Susd1	G	A	4: 59,411,318 (GRCm39)	R225*	probably null	Het
Tmem114	C	A	16: 8,242,610 (GRCm39)		probably benign	Het
Tmem68	A	G	4: 3,564,107 (GRCm39)	V159A	probably benign	Het
Tpra1	T	A	6: 88,885,276 (GRCm39)	I76N	probably damaging	Het
Trim45	A	G	3: 100,839,353 (GRCm39)	T752A	unknown	Het
Trp63	C	A	16: 25,639,227 (GRCm39)	H138Q	probably damaging	Het
Ugt2a2	T	C	5: 87,608,255 (GRCm39)	D528G	possibly damaging	Het
Vmn2r39	T	G	7: 9,017,761 (GRCm39)	K858N	possibly damaging	Het
Zfp629	A	T	7: 127,210,484 (GRCm39)	S442T	probably 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
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
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'- GCTCGGAGGAGACACTTTT -3'
(R):5'- TCAGTTCAACCGTCACGTCC -3'

Sequencing Primer
(F):5'- ATGGCGCCTCAGAAGCAC -3'
(R):5'- TCCAAGGCTGCTCTGAACCTG -3'

Posted On

2019-05-15