Incidental Mutation 'R8809:Ehmt2'
ID 672310
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 068645-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8809 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35117445-35133028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35127489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 906 (T906K)
Ref Sequence ENSEMBL: ENSMUSP00000013931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013931] [ENSMUST00000078061] [ENSMUST00000097342] [ENSMUST00000114033] [ENSMUST00000124846] [ENSMUST00000137071]
AlphaFold Q9Z148
Predicted Effect probably damaging
Transcript: ENSMUST00000013931
AA Change: T906K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787
AA Change: T906K

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 damaging
Transcript: ENSMUST00000078061
AA Change: T815K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787
AA Change: T815K

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 damaging
Transcript: ENSMUST00000097342
AA Change: T872K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787
AA Change: T872K

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 damaging
Transcript: ENSMUST00000114033
AA Change: T849K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787
AA Change: T849K

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 probably damaging
Transcript: ENSMUST00000124846
AA Change: T427K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121838
Gene: ENSMUSG00000013787
AA Change: T427K

DomainStartEndE-ValueType
low complexity region 115 138 N/A INTRINSIC
low complexity region 204 215 N/A INTRINSIC
ANK 258 287 2.52e-6 SMART
ANK 291 320 1.19e-2 SMART
ANK 324 354 4.71e-6 SMART
ANK 358 387 2.9e-6 SMART
ANK 391 420 1e0 SMART
Pfam:Ank 424 442 3.4e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137071
SMART Domains Protein: ENSMUSP00000134749
Gene: ENSMUSG00000013787

DomainStartEndE-ValueType
ANK 23 52 1.19e-2 SMART
ANK 56 86 4.71e-6 SMART
ANK 90 119 2.9e-6 SMART
low complexity region 143 154 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000134089
Gene: ENSMUSG00000013787
AA Change: T124K

DomainStartEndE-ValueType
ANK 24 53 1.19e-2 SMART
ANK 57 87 4.71e-6 SMART
ANK 89 118 1e0 SMART
ANK 122 151 1.53e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (63/65)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 C T 10: 89,550,841 (GRCm39) V318I probably benign Het
Adam29 A G 8: 56,325,659 (GRCm39) I265T probably benign Het
Ankdd1a A T 9: 65,415,422 (GRCm39) probably benign Het
Arcn1 T C 9: 44,655,259 (GRCm39) T501A possibly damaging Het
B3gntl1 A T 11: 121,521,690 (GRCm39) F166I possibly damaging Het
Brap T C 5: 121,822,524 (GRCm39) S467P possibly damaging Het
Cenpb A G 2: 131,020,322 (GRCm39) V492A unknown Het
Ces1b C A 8: 93,786,948 (GRCm39) G477V probably damaging Het
Ces1b C T 8: 93,786,949 (GRCm39) G477R probably damaging Het
Cfap65 T C 1: 74,942,382 (GRCm39) K1724R probably benign Het
Chrd A T 16: 20,553,270 (GRCm39) Q182L probably benign Het
Chrnb2 T C 3: 89,664,457 (GRCm39) T486A probably benign Het
Col25a1 A T 3: 130,354,466 (GRCm39) probably null Het
Col4a1 A G 8: 11,295,916 (GRCm39) Y101H unknown Het
Crybg1 T C 10: 43,879,428 (GRCm39) T587A probably damaging Het
Ctnnal1 T A 4: 56,835,374 (GRCm39) N301I possibly damaging Het
Cyp2f2 A T 7: 26,831,995 (GRCm39) N417Y probably damaging Het
Dnah6 T A 6: 73,009,546 (GRCm39) E3800D possibly damaging Het
Dync2i1 A G 12: 116,193,234 (GRCm39) S573P probably damaging Het
Fbxo15 A G 18: 84,978,200 (GRCm39) H183R possibly damaging Het
Fgl1 T A 8: 41,650,368 (GRCm39) K194* probably null Het
Fxr1 G A 3: 34,108,430 (GRCm39) V314I possibly damaging Het
Hrnr A G 3: 93,239,443 (GRCm39) Q3227R unknown Het
Ier5 G A 1: 154,974,716 (GRCm39) A154V probably benign Het
Igkc T G 6: 70,703,502 (GRCm39) L28V Het
Kcnh1 G A 1: 191,903,722 (GRCm39) G54D probably damaging Het
Kcnn1 C T 8: 71,305,297 (GRCm39) probably null Het
Kifbp C T 10: 62,395,491 (GRCm39) D384N possibly damaging Het
Klra2 T A 6: 131,197,198 (GRCm39) N234I possibly damaging Het
Krtap4-9 T C 11: 99,676,454 (GRCm39) I125T unknown Het
Lrig2 T C 3: 104,368,993 (GRCm39) T897A probably benign Het
Lyve1 G T 7: 110,452,999 (GRCm39) T199K probably damaging Het
Myorg T C 4: 41,498,812 (GRCm39) T273A probably benign Het
Napa A G 7: 15,846,551 (GRCm39) D113G possibly damaging Het
Neurog1 GGTG GGTGTG 13: 56,399,098 (GRCm39) probably null Het
Nf1 T A 11: 79,437,964 (GRCm39) H91Q probably damaging Het
Or4c11c T C 2: 88,662,256 (GRCm39) M265T probably benign Het
Or4n4 A G 14: 50,519,236 (GRCm39) I158T probably benign Het
Or52e3 A T 7: 102,869,446 (GRCm39) N174Y probably benign Het
Or5k16 T A 16: 58,736,248 (GRCm39) Y252F probably damaging Het
Or7g16 A G 9: 18,726,919 (GRCm39) S224P probably damaging Het
Pccb A T 9: 100,867,220 (GRCm39) Y455* probably null Het
Pdk2 A T 11: 94,923,339 (GRCm39) I95N probably damaging Het
Pik3c2g G A 6: 139,714,436 (GRCm39) R196H Het
Pkd1l2 A G 8: 117,726,660 (GRCm39) L2282P probably damaging Het
Plppr2 TCGCC TC 9: 21,855,727 (GRCm39) probably benign Het
Prdm1 A T 10: 44,315,749 (GRCm39) S796T probably benign Het
Rb1 A G 14: 73,503,000 (GRCm39) F424L probably damaging Het
Retreg3 A G 11: 100,992,852 (GRCm39) L190P probably damaging Het
Rffl A G 11: 82,700,864 (GRCm39) Y321H probably damaging Het
Rlbp1 A G 7: 79,025,704 (GRCm39) Y246H probably damaging Het
Rock2 T A 12: 17,015,655 (GRCm39) probably benign Het
Slc17a3 C A 13: 24,039,575 (GRCm39) C244* probably null Het
Snapc1 T C 12: 74,021,812 (GRCm39) S304P probably benign Het
Sp9 T C 2: 73,104,019 (GRCm39) L191P probably damaging Het
Spag17 A T 3: 99,889,738 (GRCm39) E202D probably benign Het
Ss18 A G 18: 14,760,344 (GRCm39) *419R probably null Het
Tacc2 A G 7: 130,276,421 (GRCm39) E1824G possibly damaging Het
Tacc3 T A 5: 33,824,029 (GRCm39) probably benign Het
Tfap2a A T 13: 40,870,829 (GRCm39) L353Q probably damaging Het
Ugt3a1 A G 15: 9,367,345 (GRCm39) I363V possibly damaging Het
Vmn1r158 A G 7: 22,489,775 (GRCm39) C145R probably damaging Het
Vmn1r23 A T 6: 57,903,352 (GRCm39) I142K probably damaging Het
Vmn2r15 A T 5: 109,434,874 (GRCm39) I610N probably benign Het
Yy1 CGGCGACCACGGCGGCGGCGGGGGCG CGGCG 12: 108,759,506 (GRCm39) probably benign Het
Zbtb7c T C 18: 76,270,190 (GRCm39) Y93H probably damaging Het
Zfp62 A G 11: 49,107,238 (GRCm39) N443S probably damaging 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
R5061:Ehmt2 UTSW 17 35,118,067 (GRCm39) nonsense probably null
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
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'- CCTGACTGACAATGTGAGGG -3'
(R):5'- TTTGTTCCGAAGCTCAGGG -3'

Sequencing Primer
(F):5'- CTCAAGGGGGCTCAGAGAACTTG -3'
(R):5'- AAGCTCAGGGTTGGCTCCAC -3'
Posted On 2021-04-30