Incidental Mutation 'R0453:Suz12'
ID 39797
Institutional Source Beutler Lab
Gene Symbol Suz12
Ensembl Gene ENSMUSG00000017548
Gene Name SUZ12 polycomb repressive complex 2 subunit
Synonyms 2610028O16Rik, D11Ertd530e
MMRRC Submission 038653-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0453 (G1)
Quality Score 122
Status Validated
Chromosome 11
Chromosomal Location 79883932-79924949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79920859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 586 (N586K)
Ref Sequence ENSEMBL: ENSMUSP00000126932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017692] [ENSMUST00000144188] [ENSMUST00000163272]
AlphaFold Q80U70
Predicted Effect probably damaging
Transcript: ENSMUST00000017692
AA Change: N609K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000017692
Gene: ENSMUSG00000017548
AA Change: N609K

DomainStartEndE-ValueType
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: ENSMUST00000144188
SMART Domains Protein: ENSMUSP00000128945
Gene: ENSMUSG00000017548

DomainStartEndE-ValueType
ZnF_C2H2 8 31 4.45e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163272
AA Change: N586K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126932
Gene: ENSMUSG00000017548
AA Change: N586K

DomainStartEndE-ValueType
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: ENSMUST00000181152
Meta Mutation Damage Score 0.9329 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.6%
Validation Efficiency 99% (97/98)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,765,445 (GRCm39) K843* probably null Het
Adam26b T C 8: 43,973,387 (GRCm39) I538M probably benign Het
Adamtsl1 T C 4: 86,150,852 (GRCm39) Y337H probably damaging Het
Ak7 T C 12: 105,682,307 (GRCm39) M156T probably damaging Het
Aldh3a1 A G 11: 61,106,338 (GRCm39) M238V probably benign Het
Asic4 T A 1: 75,450,155 (GRCm39) probably benign Het
AW551984 A G 9: 39,511,937 (GRCm39) S25P probably damaging Het
Bbs7 T A 3: 36,661,818 (GRCm39) Y127F possibly damaging Het
Bco1 G A 8: 117,835,516 (GRCm39) E156K possibly damaging Het
Becn1 T C 11: 101,181,275 (GRCm39) D342G probably damaging Het
Birc6 T A 17: 74,956,749 (GRCm39) I3575N probably damaging Het
Brd10 T C 19: 29,731,068 (GRCm39) Y715C probably damaging Het
Cc2d2a A T 5: 43,860,636 (GRCm39) M522L probably benign Het
Cerkl A G 2: 79,172,795 (GRCm39) F293L probably benign Het
Chil3 T G 3: 106,056,221 (GRCm39) N311T probably benign Het
Cpeb2 T A 5: 43,443,056 (GRCm39) probably benign Het
Cpxm2 A G 7: 131,730,134 (GRCm39) S162P probably damaging Het
Cracr2b A C 7: 141,044,176 (GRCm39) E136A probably damaging Het
Cyp2a4 T A 7: 26,012,258 (GRCm39) M347K probably benign Het
Dicer1 C A 12: 104,668,889 (GRCm39) R1264S probably benign Het
Dlgap1 T A 17: 71,068,341 (GRCm39) N609K probably benign Het
Dnhd1 A G 7: 105,323,651 (GRCm39) T641A probably benign Het
Egfl8 T C 17: 34,833,856 (GRCm39) Y74C probably damaging Het
Esyt1 A G 10: 128,348,078 (GRCm39) S901P probably benign Het
Fam83e A T 7: 45,373,372 (GRCm39) D246V probably damaging Het
Galnt2 T C 8: 125,065,323 (GRCm39) probably benign Het
Hdc A G 2: 126,436,871 (GRCm39) probably benign Het
Herc1 A C 9: 66,307,054 (GRCm39) Q958P probably benign Het
Iqcg T A 16: 32,870,213 (GRCm39) probably benign Het
Iqub A T 6: 24,450,829 (GRCm39) F590Y probably damaging Het
Jak2 T C 19: 29,289,238 (GRCm39) I1130T probably benign Het
Kbtbd11 G A 8: 15,077,499 (GRCm39) A33T probably benign Het
Kcnip4 A G 5: 48,667,054 (GRCm39) L37P probably damaging Het
Klk6 A G 7: 43,477,963 (GRCm39) N112D probably damaging Het
Kmt2c G A 5: 25,559,745 (GRCm39) T1011I probably damaging Het
Knl1 A T 2: 118,898,869 (GRCm39) K190M probably damaging Het
Lama3 T A 18: 12,598,535 (GRCm39) S981T possibly damaging Het
Lrrc18 T C 14: 32,730,608 (GRCm39) L49P probably damaging Het
Lrrc31 T C 3: 30,741,674 (GRCm39) E245G probably damaging Het
Lypd10 T A 7: 24,413,712 (GRCm39) S243T probably benign Het
Macf1 T C 4: 123,338,737 (GRCm39) I2456M probably benign Het
Mcm6 T A 1: 128,261,292 (GRCm39) T771S probably benign Het
Met A C 6: 17,534,197 (GRCm39) Y680S possibly damaging Het
Mixl1 T A 1: 180,524,211 (GRCm39) T123S probably damaging Het
Myh8 A T 11: 67,183,731 (GRCm39) I787F probably benign Het
Myocd A G 11: 65,087,051 (GRCm39) F292S probably damaging Het
Neb T C 2: 52,203,902 (GRCm39) probably null Het
Nfe2l1 A G 11: 96,718,194 (GRCm39) S114P probably damaging Het
Nrxn2 T C 19: 6,541,551 (GRCm39) S986P probably damaging Het
Oprl1 T C 2: 181,360,527 (GRCm39) probably null Het
Or11h6 T C 14: 50,880,461 (GRCm39) V241A possibly damaging Het
Or4a73 A T 2: 89,421,095 (GRCm39) Y121* probably null Het
Or5b101 T G 19: 13,005,295 (GRCm39) T133P probably damaging Het
Or6c8 A G 10: 128,915,640 (GRCm39) F64S probably damaging Het
Or8b53 G A 9: 38,667,425 (GRCm39) G147D probably damaging Het
Or8c9 A T 9: 38,241,467 (GRCm39) T195S probably benign Het
Panx2 T A 15: 88,952,610 (GRCm39) I359N probably damaging Het
Pik3c2b T A 1: 133,005,134 (GRCm39) V545E probably damaging Het
Piwil4 T C 9: 14,638,748 (GRCm39) N259S probably benign Het
Plcxd2 A T 16: 45,800,919 (GRCm39) F102I probably damaging Het
Pld5 A T 1: 175,917,522 (GRCm39) M75K possibly damaging Het
Pmp22 T A 11: 63,041,929 (GRCm39) probably benign Het
Polr2a A G 11: 69,631,845 (GRCm39) S1074P possibly damaging Het
Pop1 T A 15: 34,526,352 (GRCm39) V649E possibly damaging Het
Prc1 A G 7: 79,962,850 (GRCm39) N548S probably damaging Het
Prss51 T C 14: 64,334,588 (GRCm39) L202P probably damaging Het
Rhpn1 T C 15: 75,585,428 (GRCm39) S576P possibly damaging Het
Rictor A G 15: 6,738,123 (GRCm39) D20G probably benign Het
Rpl13a-ps1 A T 19: 50,018,645 (GRCm39) L177* probably null Het
Rpl23a-ps1 T G 1: 46,021,087 (GRCm39) noncoding transcript Het
Saa2 A G 7: 46,402,902 (GRCm39) D51G probably damaging Het
Sec31a A T 5: 100,551,977 (GRCm39) probably benign Het
Secisbp2 G A 13: 51,837,361 (GRCm39) E841K possibly damaging Het
Serinc1 A G 10: 57,393,306 (GRCm39) Y437H probably damaging Het
Slc39a12 A T 2: 14,440,492 (GRCm39) H481L probably benign Het
Synm T C 7: 67,386,630 (GRCm39) Y344C possibly damaging Het
Tas2r104 A G 6: 131,662,304 (GRCm39) V135A probably benign Het
Tdrd9 T C 12: 112,034,673 (GRCm39) S1371P probably benign Het
Tg T A 15: 66,700,382 (GRCm39) D893E probably benign Het
Thoc5 C A 11: 4,868,217 (GRCm39) D423E possibly damaging Het
Trim11 G A 11: 58,881,361 (GRCm39) R418H probably damaging Het
Trim52 T G 14: 106,344,399 (GRCm39) V19G probably damaging Het
Tuba4a C A 1: 75,192,502 (GRCm39) V371L probably damaging Het
Ugt8a A G 3: 125,708,606 (GRCm39) V168A probably benign Het
Ulk1 C T 5: 110,938,951 (GRCm39) G496R probably damaging Het
Usp40 A G 1: 87,874,320 (GRCm39) *1236Q probably null Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r24 A G 6: 123,757,350 (GRCm39) probably null Het
Vmn2r53 A G 7: 12,316,338 (GRCm39) Y494H probably damaging Het
Vmn2r65 T A 7: 84,595,442 (GRCm39) D414V probably benign Het
Wdr26 A T 1: 181,010,444 (GRCm39) L519* probably null Het
Wnk1 A G 6: 119,940,112 (GRCm39) V173A probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp318 T C 17: 46,707,634 (GRCm39) S231P probably damaging Het
Zfp398 T C 6: 47,842,782 (GRCm39) V146A probably benign Het
Zfp410 T C 12: 84,378,486 (GRCm39) M270T probably damaging Het
Zfp445 A T 9: 122,682,578 (GRCm39) H454Q possibly damaging Het
Other mutations in Suz12
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- tctcaccagccccCATACAAGTT -3'
(R):5'- CCACAAATGGCCTTGCCCACTTAAT -3'

Sequencing Primer
(F):5'- ctggaggctgaggcagg -3'
(R):5'- agcacccacgaggcaac -3'
Posted On 2013-05-23