Incidental Mutation 'R5523:Ehmt2'
ID 431716
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 043265-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5523 (G1)
Quality Score 119
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: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.4%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm G A 3: 153,644,273 (GRCm39) T70M probably benign Het
Adamtsl3 G A 7: 82,223,650 (GRCm39) A218T possibly damaging Het
Ahnak2 T C 12: 112,741,642 (GRCm39) D810G probably damaging Het
Ak7 T A 12: 105,707,341 (GRCm39) L315* probably null Het
Apoa5 T C 9: 46,181,887 (GRCm39) F321S possibly damaging Het
Baiap2l1 G C 5: 144,212,768 (GRCm39) P416A probably damaging Het
Bco1 A G 8: 117,835,432 (GRCm39) I128V possibly damaging Het
Bpifb2 T C 2: 153,717,905 (GRCm39) probably benign Het
Cdt1 G A 8: 123,294,832 (GRCm39) R13H possibly damaging Het
Cenpj A G 14: 56,789,880 (GRCm39) V723A probably benign Het
Chl1 T A 6: 103,685,675 (GRCm39) W849R probably damaging Het
Cpne9 A G 6: 113,267,192 (GRCm39) D169G probably damaging Het
Cyp2d22 A G 15: 82,256,772 (GRCm39) V334A probably damaging Het
Cyp4f39 C A 17: 32,689,807 (GRCm39) N84K probably benign Het
Cyp4f40 T A 17: 32,888,796 (GRCm39) F192I probably damaging Het
Disp3 T C 4: 148,342,554 (GRCm39) D632G probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Echs1 G T 7: 139,692,426 (GRCm39) T107K probably benign Het
Ergic1 G A 17: 26,843,580 (GRCm39) V17I probably damaging Het
Fank1 G T 7: 133,478,569 (GRCm39) C210F probably damaging Het
Fbxo15 T G 18: 84,978,194 (GRCm39) M136R probably damaging Het
Ggcx C A 6: 72,401,017 (GRCm39) P240H probably damaging Het
Gpr179 T C 11: 97,227,608 (GRCm39) R1516G probably benign Het
Gprin3 G A 6: 59,330,931 (GRCm39) Q459* probably null Het
Hadha C A 5: 30,350,252 (GRCm39) V99F possibly damaging Het
Hirip3 A G 7: 126,463,034 (GRCm39) D330G possibly damaging Het
Irx2 T C 13: 72,779,714 (GRCm39) W333R probably damaging Het
Kansl1l T C 1: 66,841,271 (GRCm39) T10A probably benign Het
Kcnd2 T C 6: 21,723,211 (GRCm39) I467T probably benign Het
Klc3 A T 7: 19,130,932 (GRCm39) I215N probably damaging Het
Kmt2c A G 5: 25,504,337 (GRCm39) V3657A probably benign Het
Lin28b A T 10: 45,345,164 (GRCm39) L54* probably null Het
Mgll T C 6: 88,702,743 (GRCm39) V14A probably benign Het
Mrc2 A G 11: 105,234,408 (GRCm39) N976S probably benign Het
Myh8 C A 11: 67,196,788 (GRCm39) A1807E possibly damaging Het
Nalcn G A 14: 123,647,155 (GRCm39) P573S probably damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Neb T C 2: 52,168,827 (GRCm39) S1903G probably benign Het
Nfe2 T A 15: 103,157,556 (GRCm39) D145V probably damaging Het
Or52a20 T A 7: 103,366,687 (GRCm39) Y295* probably null Het
Padi1 A T 4: 140,542,164 (GRCm39) V586D probably damaging Het
Pcdh12 T C 18: 38,416,192 (GRCm39) D311G probably damaging Het
Pcdha11 A T 18: 37,145,439 (GRCm39) H510L probably damaging Het
Plcb1 C A 2: 135,102,486 (GRCm39) P221H probably benign Het
Plekhg2 A T 7: 28,069,856 (GRCm39) V58E probably damaging Het
Pparg A C 6: 115,467,032 (GRCm39) Q435P probably damaging Het
Ppp1r36 A G 12: 76,484,892 (GRCm39) T282A possibly damaging Het
Prcd T C 11: 116,559,110 (GRCm39) probably benign Het
Pygo1 A T 9: 72,852,266 (GRCm39) H151L possibly damaging Het
Rnmt A G 18: 68,446,773 (GRCm39) Y266C probably benign Het
Rxrb T C 17: 34,255,411 (GRCm39) V246A probably damaging Het
Sart1 A G 19: 5,433,704 (GRCm39) S378P probably damaging Het
Sema4d T C 13: 51,865,390 (GRCm39) N318S possibly damaging Het
Sis C T 3: 72,798,754 (GRCm39) V1765I probably benign Het
Slc17a6 A T 7: 51,276,598 (GRCm39) K116* probably null Het
Smc6 T A 12: 11,341,540 (GRCm39) H519Q probably benign Het
Sowahc T A 10: 59,058,785 (GRCm39) M307K probably benign Het
Sptbn1 A G 11: 30,087,560 (GRCm39) Y960H probably damaging Het
Tmem270 A C 5: 134,931,636 (GRCm39) V102G probably benign Het
Tmprss11d A G 5: 86,486,729 (GRCm39) F54L probably benign Het
Top1 T A 2: 160,544,695 (GRCm39) Y270* probably null Het
Trpm2 A G 10: 77,771,795 (GRCm39) F615L probably benign Het
Ttf2 A G 3: 100,866,558 (GRCm39) S525P probably damaging Het
Ttn A T 2: 76,777,241 (GRCm39) M1387K possibly damaging Het
Upk3bl A T 5: 136,088,954 (GRCm39) R156W probably damaging Het
Usp34 G T 11: 23,299,198 (GRCm39) R290L probably benign Het
Vwf T C 6: 125,620,005 (GRCm39) V1561A Het
Zan A G 5: 137,420,155 (GRCm39) I2834T unknown Het
Zfp105 A G 9: 122,755,454 (GRCm39) Y90C probably benign Het
Zfp804a T C 2: 82,089,339 (GRCm39) V1056A probably damaging Het
Zfp956 A T 6: 47,930,455 (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
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
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'- CGAACTTACAGCAAACCAGGGG -3'
(R):5'- AGCTATGAACTGTCGGGAGG -3'

Sequencing Primer
(F):5'- GCAAACCAGGGGGCCAAC -3'
(R):5'- TGAAAGCTCCCGGGATCC -3'
Posted On 2016-10-05