Incidental Mutation 'R1957:Suz12'
ID 217948
Institutional Source Beutler Lab
Gene Symbol Suz12
Ensembl Gene ENSMUSG00000017548
Gene Name SUZ12 polycomb repressive complex 2 subunit
Synonyms 2610028O16Rik, D11Ertd530e
MMRRC Submission 039971-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1957 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 79883932-79924949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79889926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 146 (M146V)
Ref Sequence ENSEMBL: ENSMUSP00000017692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017692] [ENSMUST00000163272]
AlphaFold Q80U70
Predicted Effect probably benign
Transcript: ENSMUST00000017692
AA Change: M146V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000017692
Gene: ENSMUSG00000017548
AA Change: M146V

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 unknown
Transcript: ENSMUST00000126091
AA Change: M21V
SMART Domains Protein: ENSMUSP00000129070
Gene: ENSMUSG00000017548
AA Change: M21V

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148140
Predicted Effect probably benign
Transcript: ENSMUST00000163272
SMART Domains Protein: ENSMUSP00000126932
Gene: ENSMUSG00000017548

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
Meta Mutation Damage Score 0.0600 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 97% (117/121)
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: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas C T 15: 102,247,068 (GRCm39) probably benign Het
Aadacl4fm5 G A 4: 144,504,389 (GRCm39) T254I possibly damaging Het
Abce1 A G 8: 80,412,578 (GRCm39) I583T probably benign Het
Abtb3 T C 10: 85,469,563 (GRCm39) L828P probably damaging Het
Adcy1 A T 11: 7,111,945 (GRCm39) T937S probably benign Het
Adgra2 A G 8: 27,601,196 (GRCm39) I279V possibly damaging Het
Adgrl4 A T 3: 151,216,416 (GRCm39) N533I possibly damaging Het
Adipor1 T C 1: 134,350,771 (GRCm39) S7P probably benign Het
Amelx A T X: 167,965,153 (GRCm39) probably null Het
Anks1b A T 10: 89,885,792 (GRCm39) T163S probably damaging Het
Apc A G 18: 34,450,388 (GRCm39) E2394G probably damaging Het
Arhgef39 C T 4: 43,499,309 (GRCm39) G56E probably damaging Het
Arnt C T 3: 95,355,704 (GRCm39) S16L possibly damaging Het
Arsj A G 3: 126,232,670 (GRCm39) N472S probably benign Het
Atg2b T C 12: 105,635,677 (GRCm39) Y197C probably damaging Het
B3gat1 A T 9: 26,667,248 (GRCm39) D160V possibly damaging Het
Bmp7 T C 2: 172,781,714 (GRCm39) E50G probably damaging Het
Bms1 T C 6: 118,369,939 (GRCm39) E869G probably damaging Het
Brd4 G A 17: 32,440,340 (GRCm39) P332L possibly damaging Het
C130074G19Rik T C 1: 184,615,095 (GRCm39) T32A probably benign Het
C1rl A T 6: 124,486,021 (GRCm39) Y464F probably damaging Het
Ccdc150 T A 1: 54,303,068 (GRCm39) M193K probably benign Het
Ccdc7a A G 8: 129,706,616 (GRCm39) S338P probably damaging Het
Cenpu T C 8: 47,025,872 (GRCm39) probably benign Het
Cep170 A C 1: 176,597,013 (GRCm39) V448G probably benign Het
Col27a1 G T 4: 63,196,031 (GRCm39) A879S probably benign Het
Crtac1 C T 19: 42,276,383 (GRCm39) S515N possibly damaging Het
Cstad G A 2: 30,498,293 (GRCm39) V43M unknown Het
Daam1 T C 12: 72,029,529 (GRCm39) probably null Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dsg3 A G 18: 20,655,162 (GRCm39) N153S probably damaging Het
Dzip3 C A 16: 48,747,956 (GRCm39) L1151F probably damaging Het
Eml5 A T 12: 98,826,220 (GRCm39) H644Q probably damaging Het
Emsy A G 7: 98,297,027 (GRCm39) L52P probably damaging Het
Eno1 T A 4: 150,331,232 (GRCm39) probably null Het
Epha3 T A 16: 63,593,315 (GRCm39) T258S probably benign Het
Ern1 T C 11: 106,317,723 (GRCm39) T134A probably damaging Het
Fam151b G T 13: 92,614,410 (GRCm39) T26K probably damaging Het
Fam151b T A 13: 92,614,411 (GRCm39) T26S probably damaging Het
Fat1 T C 8: 45,493,719 (GRCm39) V3955A probably damaging Het
Fbn1 T C 2: 125,209,574 (GRCm39) N930S possibly damaging Het
Fgr A G 4: 132,725,673 (GRCm39) M361V probably benign Het
Fmo4 G A 1: 162,631,259 (GRCm39) T236I probably benign Het
Fndc7 G A 3: 108,790,825 (GRCm39) T67I probably damaging Het
Fxr2 A G 11: 69,534,766 (GRCm39) T216A probably benign Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm42669 A T 5: 107,656,738 (GRCm39) E355D possibly damaging Het
Gm5174 A T 10: 86,492,617 (GRCm39) noncoding transcript Het
Gm5431 A T 11: 48,779,224 (GRCm39) L844* probably null Het
Gm6489 T C 1: 31,326,452 (GRCm39) noncoding transcript Het
Gna11 A G 10: 81,366,678 (GRCm39) V344A probably damaging Het
Gtpbp3 A G 8: 71,943,099 (GRCm39) E170G probably damaging Het
H2az1 A C 3: 137,571,275 (GRCm39) probably benign Het
Heatr1 A G 13: 12,411,419 (GRCm39) N87D probably damaging Het
Iars2 T C 1: 185,027,868 (GRCm39) K687E possibly damaging Het
Ica1 T C 6: 8,749,736 (GRCm39) D71G possibly damaging Het
Ifnlr1 T C 4: 135,413,881 (GRCm39) L10P probably damaging Het
Il1r1 T A 1: 40,352,300 (GRCm39) L490* probably null Het
Ip6k3 A T 17: 27,370,142 (GRCm39) L92Q probably benign Het
Itgbl1 T A 14: 124,204,090 (GRCm39) F394I probably damaging Het
Kat6b T C 14: 21,678,947 (GRCm39) Y437H probably damaging Het
Kcnh5 G C 12: 74,944,358 (GRCm39) Q964E probably benign Het
Krt27 A T 11: 99,237,309 (GRCm39) probably null Het
Mki67 A T 7: 135,300,128 (GRCm39) D1635E probably benign Het
Mmp23 G T 4: 155,736,509 (GRCm39) H177Q possibly damaging Het
Myef2l G T 3: 10,154,346 (GRCm39) V372F probably benign Het
Mylk2 C A 2: 152,759,527 (GRCm39) Q406K possibly damaging Het
Myo1g A G 11: 6,462,159 (GRCm39) probably null Het
Myrf T C 19: 10,197,160 (GRCm39) T261A probably benign Het
Nmt2 C T 2: 3,326,419 (GRCm39) P486L possibly damaging Het
Oard1 T A 17: 48,722,304 (GRCm39) L100* probably null Het
Oca2 T C 7: 55,971,246 (GRCm39) I391T possibly damaging Het
Or51v14 T A 7: 103,260,618 (GRCm39) *314L probably null Het
Or5k17 T A 16: 58,746,530 (GRCm39) M135L probably benign Het
Or5p64 A C 7: 107,854,403 (GRCm39) L314* probably null Het
Or6c68 A T 10: 129,157,740 (GRCm39) I83F possibly damaging Het
Or8b39 T A 9: 37,996,419 (GRCm39) C96S probably damaging Het
Or9k2b C A 10: 130,015,847 (GRCm39) A301S possibly damaging Het
Pabpc4 T A 4: 123,180,658 (GRCm39) S127T probably damaging Het
Pcdhb1 A G 18: 37,398,760 (GRCm39) D237G probably damaging Het
Pdcd6ip T C 9: 113,537,090 (GRCm39) Y29C probably damaging Het
Phf3 C A 1: 30,870,601 (GRCm39) R95L probably damaging Het
Pkd1l2 A T 8: 117,757,421 (GRCm39) V1539D probably damaging Het
Plxna1 A T 6: 89,308,273 (GRCm39) D1271E probably damaging Het
Ppp3r2 A G 4: 49,681,726 (GRCm39) F75L probably damaging Het
Pth2r C A 1: 65,411,514 (GRCm39) D350E probably damaging Het
Rabgap1 T C 2: 37,373,774 (GRCm39) F262S possibly damaging Het
Rbbp6 T C 7: 122,589,511 (GRCm39) S438P probably benign Het
Rexo1 G A 10: 80,379,200 (GRCm39) R1038C probably damaging Het
Rnf10 A G 5: 115,398,381 (GRCm39) probably benign Het
Scyl1 C A 19: 5,810,132 (GRCm39) A565S probably benign Het
Septin4 A G 11: 87,481,193 (GRCm39) T378A probably benign Het
Sh3yl1 A G 12: 30,992,787 (GRCm39) probably null Het
Slc1a7 G T 4: 107,825,782 (GRCm39) D14Y probably benign Het
Slc32a1 T C 2: 158,455,963 (GRCm39) V206A probably damaging Het
Smyd5 G A 6: 85,415,121 (GRCm39) R43Q probably benign Het
Snrnp200 G A 2: 127,058,095 (GRCm39) A286T possibly damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Srebf2 T A 15: 82,079,155 (GRCm39) H794Q probably benign Het
Ssbp2 T C 13: 91,812,303 (GRCm39) probably benign Het
Sspo G A 6: 48,455,207 (GRCm39) G3023D probably damaging Het
St6galnac5 T A 3: 152,552,120 (GRCm39) Q149L probably benign Het
Stab2 A G 10: 86,697,334 (GRCm39) Y1985H probably benign Het
Tac2 A G 10: 127,564,349 (GRCm39) probably null Het
Thbd T C 2: 148,248,899 (GRCm39) E323G probably damaging Het
Tnfrsf26 T A 7: 143,171,660 (GRCm39) T98S probably damaging Het
Trim15 T C 17: 37,173,215 (GRCm39) probably benign Het
Trpt1 T C 19: 6,975,561 (GRCm39) V105A possibly damaging Het
Vcam1 T C 3: 115,919,606 (GRCm39) Y226C probably damaging Het
Vmn1r175 A G 7: 23,507,808 (GRCm39) V273A probably benign Het
Vmn2r109 A G 17: 20,784,969 (GRCm39) V17A probably benign Het
Vmn2r84 G A 10: 130,226,677 (GRCm39) A387V probably benign Het
Wdfy4 A T 14: 32,693,641 (GRCm39) L2728Q probably damaging Het
Zfp934 T A 13: 62,666,108 (GRCm39) T178S 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
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
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'- TTAAGCTTGAAGGCATGTCTACTTG -3'
(R):5'- ATGTACACCTGGAGCAACTG -3'

Sequencing Primer
(F):5'- ACACACTGTCTCAATAGTGGTGC -3'
(R):5'- GTACACCTGGAGCAACTGATTCTAAG -3'
Posted On 2014-08-01