Incidental Mutation 'R8175:Ehmt2'
ID 634318
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 067600-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8175 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 35117445-35133028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35130396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1071 (N1071D)
Ref Sequence ENSEMBL: ENSMUSP00000013931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000013931] [ENSMUST00000078061] [ENSMUST00000097342] [ENSMUST00000114033] [ENSMUST00000124846] [ENSMUST00000137071]
AlphaFold Q9Z148
Predicted Effect probably benign
Transcript: ENSMUST00000007249
SMART Domains Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
low complexity region 93 102 N/A INTRINSIC
transmembrane domain 226 248 N/A INTRINSIC
transmembrane domain 250 272 N/A INTRINSIC
Pfam:Choline_transpo 311 674 5.4e-119 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000013931
AA Change: N1071D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787
AA Change: N1071D

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: N980D

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787
AA Change: N980D

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: N1037D

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787
AA Change: N1037D

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: N1014D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787
AA Change: N1014D

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 benign
Transcript: ENSMUST00000124846
SMART Domains Protein: ENSMUSP00000121838
Gene: ENSMUSG00000013787

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 probably benign
Transcript: ENSMUST00000172921
SMART Domains Protein: ENSMUSP00000134089
Gene: ENSMUSG00000013787

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 C T 9: 30,815,952 (GRCm39) V635M probably damaging Het
Aim2 A T 1: 173,282,920 (GRCm39) M1L possibly damaging Het
Ank3 T C 10: 69,729,339 (GRCm39) V700A unknown Het
Arhgap10 T C 8: 78,037,471 (GRCm39) T586A probably benign Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Arhgef4 G A 1: 34,849,455 (GRCm39) V349I probably benign Het
Atp1a1 A G 3: 101,492,170 (GRCm39) F569L possibly damaging Het
Btbd10 T A 7: 112,921,999 (GRCm39) probably null Het
Capza2 G A 6: 17,665,381 (GRCm39) D270N probably benign Het
Cobll1 T C 2: 64,929,575 (GRCm39) N584D probably benign Het
Coro1c T A 5: 113,988,876 (GRCm39) I156F probably benign Het
Cpsf3 T C 12: 21,350,178 (GRCm39) I299T probably benign Het
Cse1l T A 2: 166,785,128 (GRCm39) probably null Het
D5Ertd579e T C 5: 36,772,814 (GRCm39) E527G probably damaging Het
Dcbld2 T C 16: 58,253,710 (GRCm39) L149S possibly damaging Het
Ecpas C T 4: 58,872,756 (GRCm39) V182M probably damaging Het
Egflam C A 15: 7,241,633 (GRCm39) W925L probably damaging Het
Eif3g A T 9: 20,809,026 (GRCm39) S93T probably damaging Het
Eipr1 A G 12: 28,913,106 (GRCm39) E269G Het
Eng C A 2: 32,568,934 (GRCm39) T487K possibly damaging Het
Epb41l3 T C 17: 69,517,361 (GRCm39) Y130H probably damaging Het
F5 A T 1: 164,019,834 (GRCm39) R770* probably null Het
Fam227a A G 15: 79,524,861 (GRCm39) F201S probably damaging Het
Fam50b G A 13: 34,930,847 (GRCm39) E108K probably benign Het
Fcgbpl1 T A 7: 27,863,873 (GRCm39) C2548* probably null Het
Fn1 A G 1: 71,638,824 (GRCm39) I1971T probably damaging Het
Fsip2 T A 2: 82,815,088 (GRCm39) F3607Y probably benign Het
Fsip2 A T 2: 82,818,021 (GRCm39) I4585L probably benign Het
Gas1 T C 13: 60,323,932 (GRCm39) N275S Het
Hus1b A G 13: 31,131,215 (GRCm39) V148A probably benign Het
Ighmbp2 A G 19: 3,316,365 (GRCm39) L575P possibly damaging Het
Igsf21 A T 4: 139,755,542 (GRCm39) F371Y probably damaging Het
Itprid2 A G 2: 79,488,496 (GRCm39) R860G probably damaging Het
Jade1 G T 3: 41,567,723 (GRCm39) R597L probably benign Het
Krt4 A G 15: 101,828,984 (GRCm39) probably null Het
Lap3 T C 5: 45,666,833 (GRCm39) S412P probably benign Het
Lifr A G 15: 7,216,496 (GRCm39) T824A probably damaging Het
Megf6 T A 4: 154,353,076 (GRCm39) C1307* probably null Het
Ndufb10 A T 17: 24,943,166 (GRCm39) V48E possibly damaging Het
Nelfa T C 5: 34,079,357 (GRCm39) K72R possibly damaging Het
Obscn C T 11: 58,886,786 (GRCm39) V7767I unknown Het
Pptc7 T A 5: 122,457,882 (GRCm39) C284S probably benign Het
Pxdc1 A G 13: 34,812,798 (GRCm39) S218P probably damaging Het
Rabep1 T A 11: 70,775,755 (GRCm39) W110R probably damaging Het
Ren1 T C 1: 133,282,007 (GRCm39) Y79H possibly damaging Het
Ripor3 T C 2: 167,825,679 (GRCm39) S760G probably benign Het
Setd1a A G 7: 127,395,415 (GRCm39) E1327G unknown Het
Setd5 T C 6: 113,091,874 (GRCm39) W232R probably damaging Het
Slf1 A T 13: 77,260,790 (GRCm39) H171Q probably damaging Het
Smoc1 A G 12: 81,214,440 (GRCm39) D285G probably damaging Het
Taf10 T C 7: 105,393,134 (GRCm39) Y97C probably damaging Het
Tgfbr2 G A 9: 115,939,023 (GRCm39) S293L possibly damaging Het
Tmem181a A G 17: 6,346,075 (GRCm39) I190V probably benign Het
Traf6 C T 2: 101,521,825 (GRCm39) T220I possibly damaging Het
Ube4b T C 4: 149,435,973 (GRCm39) N716D probably benign Het
Unc5d T A 8: 29,334,855 (GRCm39) K157N probably damaging Het
Usp19 G A 9: 108,377,377 (GRCm39) R1255H probably damaging Het
Vmn2r12 T A 5: 109,238,349 (GRCm39) I464F probably damaging Het
Zbtb20 A T 16: 43,397,443 (GRCm39) probably benign Het
Zfp790 T G 7: 29,529,205 (GRCm39) L630R possibly 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
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'- TATGCAAATGCGCGCTCTAG -3'
(R):5'- ATCTTGGCAGTCCGGTAGAG -3'

Sequencing Primer
(F):5'- TGACCTCAGCCTGCAGACTC -3'
(R):5'- TAGAGCTGCAGCCGTACC -3'
Posted On 2020-07-13