Incidental Mutation 'R4959:Suz12'
ID 382179
Institutional Source Beutler Lab
Gene Symbol Suz12
Ensembl Gene ENSMUSG00000017548
Gene Name SUZ12 polycomb repressive complex 2 subunit
Synonyms 2610028O16Rik, D11Ertd530e
MMRRC Submission 042556-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4959 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 79883932-79924949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79920057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 539 (G539D)
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: G562D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017692
Gene: ENSMUSG00000017548
AA Change: G562D

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: G539D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126932
Gene: ENSMUSG00000017548
AA Change: G539D

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.6%
  • 20x: 89.7%
Validation Efficiency
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
6820408C15Rik T A 2: 152,282,808 (GRCm39) I221K possibly damaging Het
Aadacl3 A T 4: 144,183,656 (GRCm39) C136S probably benign Het
Abhd16a T A 17: 35,321,318 (GRCm39) S498T probably benign Het
Acrv1 G A 9: 36,605,996 (GRCm39) probably null Het
Adamts18 G A 8: 114,463,357 (GRCm39) R830* probably null Het
Art3 A G 5: 92,551,478 (GRCm39) Y279C probably damaging Het
Atm A T 9: 53,426,601 (GRCm39) D552E probably benign Het
Ccdc154 T C 17: 25,389,888 (GRCm39) L508P probably damaging Het
Ccser2 A T 14: 36,662,753 (GRCm39) S144T probably benign Het
Cgn C T 3: 94,685,564 (GRCm39) A320T probably benign Het
Cklf A G 8: 104,988,184 (GRCm39) K106E probably benign Het
Clec12a C A 6: 129,330,628 (GRCm39) T70K probably benign Het
CN725425 G A 15: 91,129,904 (GRCm39) A256T possibly damaging Het
Crb2 G T 2: 37,680,482 (GRCm39) R470L probably damaging Het
Csn1s1 T G 5: 87,821,120 (GRCm39) S33A probably benign Het
D630045J12Rik C T 6: 38,125,302 (GRCm39) V1571M possibly damaging Het
Deup1 G A 9: 15,523,310 (GRCm39) Q58* probably null Het
Dph2 T A 4: 117,748,527 (GRCm39) D82V probably damaging Het
Dsp C T 13: 38,375,686 (GRCm39) A1157V probably benign Het
Evi5l G T 8: 4,255,406 (GRCm39) V477L probably benign Het
Fam187b T A 7: 30,681,687 (GRCm39) H131Q probably damaging Het
Fam193b A G 13: 55,691,097 (GRCm39) I259T probably damaging Het
Fam91a1 A G 15: 58,303,059 (GRCm39) T323A probably benign Het
Fat4 T G 3: 39,037,195 (GRCm39) S3616A probably benign Het
Fbxo38 A T 18: 62,655,578 (GRCm39) N369K probably benign Het
Fitm1 T A 14: 55,813,831 (GRCm39) probably null Het
Fkbp5 T C 17: 28,647,343 (GRCm39) E164G probably damaging Het
Fpr-rs3 T C 17: 20,844,211 (GRCm39) Y310C possibly damaging Het
Fryl A T 5: 73,192,401 (GRCm39) M2678K probably benign Het
Fsip2 T C 2: 82,815,169 (GRCm39) I3634T probably benign Het
Gm3233 T C 10: 77,595,399 (GRCm39) probably benign Het
Gzmd T G 14: 56,369,955 (GRCm39) T9P unknown Het
Htr2b A T 1: 86,027,813 (GRCm39) I231N probably damaging Het
Il2ra A G 2: 11,681,664 (GRCm39) T90A possibly damaging Het
Kbtbd2 A G 6: 56,758,943 (GRCm39) F60S probably benign Het
Kif21b G A 1: 136,076,108 (GRCm39) C299Y possibly damaging Het
Lsm5 A T 6: 56,680,309 (GRCm39) D44E probably damaging Het
Mapk1 T A 16: 16,836,170 (GRCm39) M106K probably damaging Het
Mpp2 A G 11: 101,954,117 (GRCm39) V193A probably damaging Het
Muc4 T C 16: 32,575,437 (GRCm39) S1398P possibly damaging Het
Ndufs2 A G 1: 171,065,578 (GRCm39) Y282H probably damaging Het
Nes T A 3: 87,882,983 (GRCm39) L414Q probably damaging Het
Neurl2 T A 2: 164,675,122 (GRCm39) probably null Het
Ngef A G 1: 87,431,070 (GRCm39) F159S possibly damaging Het
Nlrx1 T C 9: 44,165,448 (GRCm39) H816R possibly damaging Het
Or10v5 A G 19: 11,806,300 (GRCm39) L30P probably benign Het
Or1e22 A T 11: 73,376,893 (GRCm39) Y252* probably null Het
Or2f1 T C 6: 42,721,621 (GRCm39) S217P probably damaging Het
Or4c106 T C 2: 88,682,516 (GRCm39) V74A possibly damaging Het
Or4f17-ps1 T A 2: 111,357,969 (GRCm39) F103L probably damaging Het
Or4p7 T A 2: 88,221,674 (GRCm39) L28I probably benign Het
Or7g35 A G 9: 19,496,504 (GRCm39) T224A probably benign Het
Pcgf2 A T 11: 97,582,515 (GRCm39) Y7N possibly damaging Het
Pdlim5 G A 3: 142,017,740 (GRCm39) probably benign Het
Pdzd2 A G 15: 12,375,734 (GRCm39) V1467A probably damaging Het
Pigp C A 16: 94,160,006 (GRCm39) G134V probably benign Het
Pik3c2g T C 6: 139,789,657 (GRCm39) Y385H possibly damaging Het
Pnliprp2 G A 19: 58,754,750 (GRCm39) E265K probably benign Het
Prl3c1 G T 13: 27,386,471 (GRCm39) probably null Het
Ptpn4 A T 1: 119,692,826 (GRCm39) Y110* probably null Het
Ptprq C T 10: 107,522,416 (GRCm39) V546I probably damaging Het
Rd3l C T 12: 111,946,578 (GRCm39) probably null Het
Rpl37 G A 15: 5,147,128 (GRCm39) R56Q possibly damaging Het
Rttn A T 18: 89,060,292 (GRCm39) H998L probably damaging Het
Rufy1 A T 11: 50,292,315 (GRCm39) F491L probably benign Het
Simc1 T G 13: 54,673,131 (GRCm39) V493G possibly damaging Het
Slc22a14 CTTTCCTGAA C 9: 119,003,101 (GRCm39) probably benign Het
Slc25a46 A T 18: 31,735,807 (GRCm39) I144N possibly damaging Het
Smtn A T 11: 3,477,825 (GRCm39) M1K probably null Het
Snd1 C A 6: 28,884,250 (GRCm39) Y766* probably null Het
Spata31d1d C T 13: 59,875,102 (GRCm39) G811D probably damaging Het
Spta1 A C 1: 174,074,174 (GRCm39) D2371A probably damaging Het
Stard6 A C 18: 70,631,631 (GRCm39) D74A possibly damaging Het
Stim2 G T 5: 54,262,712 (GRCm39) R318L probably benign Het
Sufu C T 19: 46,463,991 (GRCm39) T401I possibly damaging Het
Sytl2 C G 7: 90,025,245 (GRCm39) S411C probably damaging Het
Taf6 G A 5: 138,181,465 (GRCm39) Q156* probably null Het
Tead4 T C 6: 128,247,950 (GRCm39) D29G probably damaging Het
Thada T C 17: 84,751,611 (GRCm39) Y455C probably damaging Het
Tlr6 G C 5: 65,111,002 (GRCm39) T635S possibly damaging Het
Tlr9 A G 9: 106,101,876 (GRCm39) D389G probably benign Het
Tmem54 A T 4: 129,002,073 (GRCm39) H40L probably damaging Het
Trappc9 G T 15: 72,808,905 (GRCm39) N540K probably damaging Het
Trbv28 C T 6: 41,248,788 (GRCm39) S106F probably damaging Het
Trrap A T 5: 144,793,770 (GRCm39) H3384L probably damaging Het
Usp16 T A 16: 87,277,802 (GRCm39) M684K probably damaging Het
Vat1 G A 11: 101,351,426 (GRCm39) T305M probably damaging Het
Vmn2r85 A G 10: 130,257,302 (GRCm39) S544P probably damaging Het
Vps8 T C 16: 21,278,536 (GRCm39) S267P probably damaging Het
Ylpm1 T A 12: 85,096,719 (GRCm39) V1242E probably damaging Het
Zfp267 C T 3: 36,218,285 (GRCm39) R102C possibly damaging Het
Zfp322a T C 13: 23,541,052 (GRCm39) Y230C probably damaging Het
Zfp352 T A 4: 90,112,376 (GRCm39) V172E probably benign Het
Zfp936 A T 7: 42,839,034 (GRCm39) H167L probably damaging Het
Zkscan14 A G 5: 145,132,302 (GRCm39) Y410H probably benign Het
Zkscan17 A G 11: 59,394,538 (GRCm39) M21T probably damaging Het
Zswim4 G T 8: 84,938,852 (GRCm39) A1010D probably benign 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
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
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'- GGTGCTGCTTCAACTACTTTTATGTTT -3'
(R):5'- CTCACATAGAGTAAACTTTTCCTTACT -3'

Sequencing Primer
(F):5'- GGTGTACACATTGTCCTGT -3'
(R):5'- TCTGAAGACAGCTACAGTGTAC -3'
Posted On 2016-04-27