Incidental Mutation 'R5061:Ehmt2'
ID 386650
Institutional Source Beutler Lab
Gene Symbol Ehmt2
Ensembl Gene ENSMUSG00000013787
Gene Name euchromatic histone lysine N-methyltransferase 2
Synonyms KMT1C, D17Ertd710e, NG36, G9a, Bat8
MMRRC Submission 042651-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5061 (G1)
Quality Score 92
Status Not validated
Chromosome 17
Chromosomal Location 35117445-35133028 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 35118067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 40 (R40*)
Ref Sequence ENSEMBL: ENSMUSP00000094955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013931] [ENSMUST00000052778] [ENSMUST00000078061] [ENSMUST00000097342] [ENSMUST00000114033] [ENSMUST00000148431] [ENSMUST00000173093]
AlphaFold Q9Z148
Predicted Effect probably null
Transcript: ENSMUST00000013931
AA Change: R40*
SMART Domains Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787
AA Change: R40*

DomainStartEndE-ValueType
low complexity region 2 47 N/A INTRINSIC
coiled coil region 336 385 N/A INTRINSIC
low complexity region 407 424 N/A INTRINSIC
low complexity region 604 627 N/A INTRINSIC
ANK 737 766 2.52e-6 SMART
ANK 770 799 1.19e-2 SMART
ANK 803 833 4.71e-6 SMART
ANK 837 866 2.9e-6 SMART
ANK 870 899 1e0 SMART
ANK 903 932 1.53e-5 SMART
PreSET 976 1075 2.44e-40 SMART
SET 1091 1214 4.08e-46 SMART
PostSET 1217 1233 2.84e-1 SMART
low complexity region 1245 1260 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000052778
SMART Domains Protein: ENSMUSP00000057515
Gene: ENSMUSG00000049823

DomainStartEndE-ValueType
BTB 33 127 1.5e-19 SMART
low complexity region 138 149 N/A INTRINSIC
low complexity region 153 179 N/A INTRINSIC
low complexity region 186 204 N/A INTRINSIC
low complexity region 227 241 N/A INTRINSIC
low complexity region 297 327 N/A INTRINSIC
ZnF_C2H2 333 356 4.4e-2 SMART
ZnF_C2H2 359 381 2.27e-4 SMART
ZnF_C2H2 387 409 1.25e-1 SMART
ZnF_C2H2 415 438 4.54e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000078061
SMART Domains Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
coiled coil region 279 328 N/A INTRINSIC
low complexity region 350 367 N/A INTRINSIC
low complexity region 513 536 N/A INTRINSIC
ANK 646 675 2.52e-6 SMART
ANK 679 708 1.19e-2 SMART
ANK 712 742 4.71e-6 SMART
ANK 746 775 2.9e-6 SMART
ANK 779 808 1e0 SMART
ANK 812 841 1.53e-5 SMART
PreSET 885 984 2.44e-40 SMART
SET 1000 1123 4.08e-46 SMART
PostSET 1126 1142 2.84e-1 SMART
low complexity region 1154 1169 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000097342
AA Change: R40*
SMART Domains Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787
AA Change: R40*

DomainStartEndE-ValueType
low complexity region 2 47 N/A INTRINSIC
coiled coil region 336 385 N/A INTRINSIC
low complexity region 407 424 N/A INTRINSIC
low complexity region 570 593 N/A INTRINSIC
ANK 703 732 2.52e-6 SMART
ANK 736 765 1.19e-2 SMART
ANK 769 799 4.71e-6 SMART
ANK 803 832 2.9e-6 SMART
ANK 836 865 1e0 SMART
ANK 869 898 1.53e-5 SMART
PreSET 942 1041 2.44e-40 SMART
SET 1057 1180 4.08e-46 SMART
PostSET 1183 1199 2.84e-1 SMART
low complexity region 1211 1226 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114033
SMART Domains Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
coiled coil region 279 328 N/A INTRINSIC
low complexity region 350 367 N/A INTRINSIC
low complexity region 547 570 N/A INTRINSIC
ANK 680 709 2.52e-6 SMART
ANK 713 742 1.19e-2 SMART
ANK 746 776 4.71e-6 SMART
ANK 780 809 2.9e-6 SMART
ANK 813 842 1e0 SMART
ANK 846 875 1.53e-5 SMART
PreSET 919 1018 2.44e-40 SMART
SET 1034 1157 4.08e-46 SMART
PostSET 1160 1176 2.84e-1 SMART
low complexity region 1188 1203 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146418
Predicted Effect probably benign
Transcript: ENSMUST00000148431
SMART Domains Protein: ENSMUSP00000120009
Gene: ENSMUSG00000024371

DomainStartEndE-ValueType
VWA 33 187 2.33e0 SMART
Tryp_SPc 191 470 4.43e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174880
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174279
Predicted Effect probably benign
Transcript: ENSMUST00000173093
SMART Domains Protein: ENSMUSP00000133903
Gene: ENSMUSG00000049823

DomainStartEndE-ValueType
Pfam:BTB 23 68 2e-13 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E9.5-E12.5. Mutant embryos are developmentally delayed. Conditional deletion in germ cells results in infertility and arrest of meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A G 4: 39,450,953 (GRCm39) H53R probably benign Het
Abcg1 A G 17: 31,311,366 (GRCm39) K124E probably damaging Het
Acot4 G T 12: 84,085,475 (GRCm39) R64L probably benign Het
Adam22 G C 5: 8,230,238 (GRCm39) probably benign Het
Add2 G A 6: 86,064,029 (GRCm39) probably null Het
Adgrb3 G A 1: 25,107,209 (GRCm39) probably benign Het
Akap8l T G 17: 32,551,868 (GRCm39) K441T probably damaging Het
Aspn T A 13: 49,720,080 (GRCm39) S365R probably damaging Het
Atxn1 T G 13: 45,710,569 (GRCm39) K788Q probably damaging Het
Atxn2l G T 7: 126,099,375 (GRCm39) H135N probably damaging Het
Borcs8 T G 8: 70,593,008 (GRCm39) probably null Het
Col5a1 G A 2: 27,842,390 (GRCm39) D422N unknown Het
Cstad A T 2: 30,498,275 (GRCm39) T37S unknown Het
Dgkq A T 5: 108,801,989 (GRCm39) D455E probably benign Het
Dop1a T C 9: 86,385,161 (GRCm39) probably benign Het
Ebf3 T C 7: 136,915,288 (GRCm39) I84V possibly damaging Het
Eif3e A T 15: 43,115,657 (GRCm39) W370R probably damaging Het
Eya3 T A 4: 132,431,689 (GRCm39) D323E probably damaging Het
F5 T C 1: 164,021,749 (GRCm39) L1408P probably benign Het
Fam110d T C 4: 133,979,041 (GRCm39) T146A probably benign Het
Gfod1 C T 13: 43,353,992 (GRCm39) G328S probably benign Het
Gja1 T A 10: 56,263,752 (GRCm39) L37Q probably damaging Het
Gm10650 T A 3: 127,833,666 (GRCm39) noncoding transcript Het
Gm14226 T A 2: 154,867,106 (GRCm39) H354Q probably benign Het
Gm15056 T C 8: 21,390,758 (GRCm39) T60A probably benign Het
Hsd11b1 A T 1: 192,924,553 (GRCm39) N6K probably benign Het
Ighv1-36 T C 12: 114,843,742 (GRCm39) I39M probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kdm7a G A 6: 39,128,386 (GRCm39) P482S possibly damaging Het
Lama5 C A 2: 179,840,579 (GRCm39) E607* probably null Het
Lao1 T A 4: 118,824,673 (GRCm39) S252T probably benign Het
Lrp12 A G 15: 39,741,650 (GRCm39) F355S probably damaging Het
Mlycd T C 8: 120,137,043 (GRCm39) F421S probably damaging Het
Nectin3 T C 16: 46,268,812 (GRCm39) E530G probably benign Het
Nifk T C 1: 118,260,669 (GRCm39) *270R probably null Het
Ocln T C 13: 100,676,106 (GRCm39) Y129C probably damaging Het
Or10ag60 C T 2: 87,438,176 (GRCm39) T148I probably benign Het
Or4f54 T A 2: 111,122,832 (GRCm39) L73H probably damaging Het
Or52l1 T A 7: 104,829,864 (GRCm39) I219F possibly damaging Het
Or5b117 A T 19: 13,431,349 (GRCm39) C177* probably null Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb22 G T 18: 37,652,179 (GRCm39) G216C probably damaging Het
Ppcs T C 4: 119,276,412 (GRCm39) K58E probably damaging Het
Prss38 T C 11: 59,265,196 (GRCm39) T123A probably damaging Het
Rap1gap T A 4: 137,447,744 (GRCm39) probably null Het
Rbm18 A G 2: 36,017,217 (GRCm39) F54L possibly damaging Het
Rwdd3 G A 3: 120,953,432 (GRCm39) probably benign Het
Ryr2 T C 13: 11,650,422 (GRCm39) K138E possibly damaging Het
Sec24a T C 11: 51,604,359 (GRCm39) probably null Het
Serpinb10 A G 1: 107,468,701 (GRCm39) T115A probably benign Het
Slco1a8 T A 6: 141,954,414 (GRCm39) M20L probably benign Het
Slx4ip T G 2: 136,885,930 (GRCm39) F83L probably damaging Het
St3gal1 A T 15: 66,980,078 (GRCm39) S274T probably benign Het
Stab1 A C 14: 30,885,056 (GRCm39) C121W probably damaging Het
Stab2 A G 10: 86,743,249 (GRCm39) L1149P probably damaging Het
Svil T G 18: 5,048,954 (GRCm39) I77R probably benign Het
Tbk1 T G 10: 121,412,241 (GRCm39) E47A possibly damaging Het
Tert C T 13: 73,782,397 (GRCm39) T557I probably damaging Het
Tfap2c A G 2: 172,393,947 (GRCm39) D252G probably damaging Het
Tll1 C A 8: 64,506,983 (GRCm39) C586F probably damaging Het
Tln2 T G 9: 67,261,750 (GRCm39) N663T probably benign Het
Tmem245 T A 4: 56,946,945 (GRCm39) Y156F possibly damaging Het
Uhrf1 G T 17: 56,627,542 (GRCm39) probably null Het
Unc79 T A 12: 103,134,700 (GRCm39) M2417K possibly damaging Het
Ush2a T C 1: 188,689,471 (GRCm39) V5011A probably benign Het
Virma T C 4: 11,494,840 (GRCm39) V47A possibly damaging Het
Vmn2r53 A C 7: 12,315,741 (GRCm39) S693A probably benign Het
Vps54 G A 11: 21,269,881 (GRCm39) probably benign Het
Znfx1 T C 2: 166,907,318 (GRCm39) probably benign Het
Other mutations in Ehmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Ehmt2 APN 17 35,129,791 (GRCm39) missense probably damaging 1.00
IGL02398:Ehmt2 APN 17 35,127,455 (GRCm39) missense probably damaging 1.00
IGL02878:Ehmt2 APN 17 35,129,743 (GRCm39) missense probably damaging 1.00
IGL02928:Ehmt2 APN 17 35,129,798 (GRCm39) missense probably damaging 1.00
IGL03117:Ehmt2 APN 17 35,125,787 (GRCm39) missense possibly damaging 0.54
R0630:Ehmt2 UTSW 17 35,118,818 (GRCm39) missense probably benign 0.02
R0778:Ehmt2 UTSW 17 35,124,394 (GRCm39) missense probably damaging 0.99
R0909:Ehmt2 UTSW 17 35,125,480 (GRCm39) missense possibly damaging 0.95
R1402:Ehmt2 UTSW 17 35,125,757 (GRCm39) missense probably benign 0.21
R1402:Ehmt2 UTSW 17 35,125,757 (GRCm39) missense probably benign 0.21
R1405:Ehmt2 UTSW 17 35,125,553 (GRCm39) missense probably benign
R1405:Ehmt2 UTSW 17 35,125,553 (GRCm39) missense probably benign
R1693:Ehmt2 UTSW 17 35,125,386 (GRCm39) missense possibly damaging 0.88
R1855:Ehmt2 UTSW 17 35,129,752 (GRCm39) missense probably damaging 1.00
R2212:Ehmt2 UTSW 17 35,118,341 (GRCm39) missense probably benign
R2275:Ehmt2 UTSW 17 35,129,691 (GRCm39) missense possibly damaging 0.95
R3761:Ehmt2 UTSW 17 35,132,707 (GRCm39) missense probably damaging 0.97
R3827:Ehmt2 UTSW 17 35,125,741 (GRCm39) missense possibly damaging 0.95
R3915:Ehmt2 UTSW 17 35,122,443 (GRCm39) missense probably damaging 0.99
R4303:Ehmt2 UTSW 17 35,127,724 (GRCm39) missense possibly damaging 0.92
R4529:Ehmt2 UTSW 17 35,132,707 (GRCm39) missense probably damaging 0.97
R4651:Ehmt2 UTSW 17 35,132,790 (GRCm39) missense probably damaging 1.00
R4825:Ehmt2 UTSW 17 35,125,940 (GRCm39) missense probably benign
R5158:Ehmt2 UTSW 17 35,130,640 (GRCm39) missense probably damaging 1.00
R5298:Ehmt2 UTSW 17 35,118,067 (GRCm39) nonsense probably null
R5299:Ehmt2 UTSW 17 35,118,067 (GRCm39) nonsense probably null
R5523:Ehmt2 UTSW 17 35,118,067 (GRCm39) nonsense probably null
R5524:Ehmt2 UTSW 17 35,118,067 (GRCm39) nonsense probably null
R5727:Ehmt2 UTSW 17 35,125,008 (GRCm39) missense possibly damaging 0.75
R5755:Ehmt2 UTSW 17 35,127,214 (GRCm39) missense probably benign 0.05
R5786:Ehmt2 UTSW 17 35,129,719 (GRCm39) missense probably damaging 1.00
R5951:Ehmt2 UTSW 17 35,118,357 (GRCm39) missense probably benign
R6036:Ehmt2 UTSW 17 35,118,067 (GRCm39) nonsense probably null
R6162:Ehmt2 UTSW 17 35,118,067 (GRCm39) nonsense probably null
R6708:Ehmt2 UTSW 17 35,118,875 (GRCm39) nonsense probably null
R6889:Ehmt2 UTSW 17 35,131,748 (GRCm39) missense probably damaging 1.00
R6943:Ehmt2 UTSW 17 35,130,406 (GRCm39) missense probably damaging 1.00
R7470:Ehmt2 UTSW 17 35,118,372 (GRCm39) missense possibly damaging 0.67
R8061:Ehmt2 UTSW 17 35,124,903 (GRCm39) missense possibly damaging 0.66
R8095:Ehmt2 UTSW 17 35,126,745 (GRCm39) missense probably damaging 1.00
R8169:Ehmt2 UTSW 17 35,122,339 (GRCm39) missense probably benign
R8175:Ehmt2 UTSW 17 35,130,396 (GRCm39) missense probably damaging 1.00
R8244:Ehmt2 UTSW 17 35,124,238 (GRCm39) missense probably damaging 1.00
R8350:Ehmt2 UTSW 17 35,127,667 (GRCm39) missense probably damaging 1.00
R8357:Ehmt2 UTSW 17 35,124,137 (GRCm39) small deletion probably benign
R8809:Ehmt2 UTSW 17 35,127,489 (GRCm39) missense probably damaging 1.00
R8947:Ehmt2 UTSW 17 35,127,280 (GRCm39) missense possibly damaging 0.72
R9034:Ehmt2 UTSW 17 35,122,417 (GRCm39) missense probably benign 0.00
R9594:Ehmt2 UTSW 17 35,118,740 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- AACTTACAGCAAACCAGGGG -3'
(R):5'- AGCTATGAACTGTCGGGAGG -3'

Sequencing Primer
(F):5'- GCAAACCAGGGGGCCAAC -3'
(R):5'- TGAAAGCTCCCGGGATCC -3'
Posted On 2016-06-06