Incidental Mutation 'R6889:Ehmt2'
ID 537136
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 044983-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6889 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 35117445-35133028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 35131748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 1192 (F1192V)
Ref Sequence ENSEMBL: ENSMUSP00000013931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000013931] [ENSMUST00000078061] [ENSMUST00000097342] [ENSMUST00000114033] [ENSMUST00000124846] [ENSMUST00000137071] [ENSMUST00000169230]
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: F1192V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787
AA Change: F1192V

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: F1101V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787
AA Change: F1101V

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: F1158V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787
AA Change: F1158V

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: F1135V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787
AA Change: F1135V

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: ENSMUST00000169230
SMART Domains Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034

DomainStartEndE-ValueType
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 98 120 N/A INTRINSIC
Pfam:Choline_transpo 157 524 3.9e-129 PFAM
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: 99.4%
  • 20x: 98.1%
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
2310002L09Rik A T 4: 73,861,290 (GRCm39) D103E probably benign Het
Abcc3 A T 11: 94,266,381 (GRCm39) S70T possibly damaging Het
Atp6v0a1 A G 11: 100,920,009 (GRCm39) Y214C possibly damaging Het
Azi2 A G 9: 117,878,963 (GRCm39) probably null Het
Cacnb2 T A 2: 14,990,826 (GRCm39) V636E possibly damaging Het
Cd8a A C 6: 71,351,546 (GRCm39) T169P probably damaging Het
Cfap44 G A 16: 44,224,495 (GRCm39) V68I probably benign Het
Cspg4b C A 13: 113,454,912 (GRCm39) S319R probably damaging Het
Dnaaf10 G A 11: 17,172,309 (GRCm39) V133M probably damaging Het
Eea1 G T 10: 95,873,340 (GRCm39) C1134F probably benign Het
Emc1 T C 4: 139,092,661 (GRCm39) F531L probably damaging Het
Eme1 G A 11: 94,541,303 (GRCm39) T173I probably benign Het
Gli2 A T 1: 118,772,146 (GRCm39) C520S probably damaging Het
Gm43302 T C 5: 105,428,004 (GRCm39) K186E probably benign Het
Gpr108 A T 17: 57,543,990 (GRCm39) N405K probably damaging Het
Hmgcl C A 4: 135,682,953 (GRCm39) T135N probably benign Het
Hydin G A 8: 111,259,488 (GRCm39) D2487N possibly damaging Het
Igfl3 G T 7: 17,913,725 (GRCm39) R25L probably benign Het
Igsf10 A C 3: 59,239,354 (GRCm39) S276A probably benign Het
Kctd1 A G 18: 15,107,045 (GRCm39) S211P probably damaging Het
Kctd7 A T 5: 130,181,342 (GRCm39) Q255L probably benign Het
Lrig1 A G 6: 94,602,044 (GRCm39) Y270H probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myh15 A G 16: 48,973,474 (GRCm39) N1248S possibly damaging Het
Nod1 A G 6: 54,921,094 (GRCm39) F408S probably benign Het
Nrp1 T C 8: 129,219,538 (GRCm39) F652S probably damaging Het
Opa1 G T 16: 29,439,686 (GRCm39) R792L probably benign Het
Or10ak14 G A 4: 118,611,504 (GRCm39) T79I probably damaging Het
Or51t4 A T 7: 102,597,975 (GRCm39) H91L possibly damaging Het
Or5p63 A T 7: 107,811,125 (GRCm39) F204I probably benign Het
Or6c74 T C 10: 129,870,401 (GRCm39) M302T probably benign Het
Pcdha6 G T 18: 37,101,396 (GRCm39) L196F probably damaging Het
Pdia2 A T 17: 26,415,944 (GRCm39) Y347* probably null Het
Pdpr G T 8: 111,851,245 (GRCm39) probably null Het
Pigt T A 2: 164,349,251 (GRCm39) L518Q probably damaging Het
Ppfibp2 A C 7: 107,337,188 (GRCm39) D591A possibly damaging Het
Prrg2 G A 7: 44,709,413 (GRCm39) T97M possibly damaging Het
Qars1 A G 9: 108,390,382 (GRCm39) T428A probably damaging Het
Rai1 T C 11: 60,076,541 (GRCm39) F202L probably damaging Het
Rars1 A T 11: 35,699,313 (GRCm39) M660K probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc16a6 A C 11: 109,345,866 (GRCm39) F382V probably damaging Het
Slc30a7 T C 3: 115,747,802 (GRCm39) T330A probably damaging Het
Smc1b A T 15: 84,951,960 (GRCm39) L1157Q probably damaging Het
Snx4 G T 16: 33,071,840 (GRCm39) A4S possibly damaging Het
Sv2b A C 7: 74,775,515 (GRCm39) probably null Het
Syt9 A T 7: 107,024,493 (GRCm39) I129L probably damaging Het
Ttbk2 T C 2: 120,603,834 (GRCm39) E198G probably damaging Het
Ubr3 A T 2: 69,774,644 (GRCm39) D488V possibly damaging Het
Ush2a T A 1: 188,530,068 (GRCm39) C3286S probably damaging Het
Vill A G 9: 118,894,950 (GRCm39) D56G possibly damaging Het
Vmn1r41 A T 6: 89,724,352 (GRCm39) I298F probably damaging Het
Vmn2r2 A T 3: 64,024,688 (GRCm39) V631D probably damaging Het
Vmn2r32 A G 7: 7,475,573 (GRCm39) S437P possibly damaging Het
Vmn2r53 A G 7: 12,335,069 (GRCm39) V197A probably benign Het
Wasf1 A T 10: 40,796,365 (GRCm39) I32F probably damaging Het
Wasf2 G T 4: 132,922,041 (GRCm39) A387S unknown Het
Zbtb14 G A 17: 69,694,674 (GRCm39) C124Y probably damaging Het
Zfp462 G T 4: 55,007,671 (GRCm39) A37S probably damaging Het
Zfp532 A G 18: 65,820,061 (GRCm39) E882G 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
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'- ACTGCAGGAACACTAGCCAG -3'
(R):5'- TTTAACAAGCCTTCCAAGGGACAC -3'

Sequencing Primer
(F):5'- CAGGAACACTAGCCAGGCAAG -3'
(R):5'- GGGTATGGTAGCACACACCTTTAATC -3'
Posted On 2018-10-18