Incidental Mutation 'R5524:Ehmt2'
ID 431785
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 043082-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5524 (G1)
Quality Score 103
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 100% (76/76)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010L04Rik T A 7: 82,503,150 (GRCm39) noncoding transcript Het
6030469F06Rik A G 12: 31,234,862 (GRCm39) noncoding transcript Het
A830031A19Rik T A 11: 24,008,776 (GRCm39) I13F unknown Het
Acsbg2 A C 17: 57,157,197 (GRCm39) L309R probably damaging Het
Adam32 A T 8: 25,412,328 (GRCm39) M76K probably damaging Het
Adamts14 C A 10: 61,066,222 (GRCm39) R297L probably damaging Het
Agbl5 G A 5: 31,051,247 (GRCm39) probably null Het
Asb14 A G 14: 26,622,408 (GRCm39) K80E possibly damaging Het
Baiap2l1 T C 5: 144,217,759 (GRCm39) T276A probably benign Het
Cacna1d G A 14: 29,764,086 (GRCm39) P2127S probably benign Het
Ces2g A G 8: 105,693,527 (GRCm39) T403A probably benign Het
Cgn A C 3: 94,687,299 (GRCm39) M1R probably null Het
Chd5 T G 4: 152,461,087 (GRCm39) S1226A probably benign Het
Col18a1 A G 10: 76,894,558 (GRCm39) V1497A probably damaging Het
Cpd A T 11: 76,688,727 (GRCm39) Y848* probably null Het
Cyp2a12 T C 7: 26,730,656 (GRCm39) V207A probably benign Het
Cyth1 G A 11: 118,073,593 (GRCm39) R247W probably benign Het
Derl3 T C 10: 75,730,324 (GRCm39) V129A possibly damaging Het
Eml1 A T 12: 108,487,635 (GRCm39) I518L probably damaging Het
Eri1 A G 8: 35,945,763 (GRCm39) V174A probably benign Het
Fgd3 T A 13: 49,431,053 (GRCm39) I435F probably damaging Het
Foxd1 T G 13: 98,492,412 (GRCm39) S429A unknown Het
Ftcd T A 10: 76,425,165 (GRCm39) probably benign Het
Gm5478 G T 15: 101,553,102 (GRCm39) N323K probably benign Het
Gnpda1 G T 18: 38,468,161 (GRCm39) P45Q probably damaging Het
Kif20a G T 18: 34,763,678 (GRCm39) probably null Het
Klrb1 T C 6: 128,689,296 (GRCm39) probably null Het
Lcorl C A 5: 45,932,864 (GRCm39) probably null Het
Lcorl T A 5: 45,932,865 (GRCm39) probably null Het
Lrp1b T A 2: 41,000,900 (GRCm39) K2108M probably damaging Het
Lyst C T 13: 13,921,364 (GRCm39) P3437S probably benign Het
Macrod2 A T 2: 142,159,863 (GRCm39) M349L possibly damaging Het
Marchf7 T C 2: 60,075,647 (GRCm39) probably benign Het
Mcm9 A T 10: 53,424,786 (GRCm39) C601* probably null Het
Muc19 G T 15: 91,778,587 (GRCm39) noncoding transcript Het
Mycbp2 T C 14: 103,532,673 (GRCm39) D427G probably damaging Het
Nap1l5 C A 6: 58,883,763 (GRCm39) V64L possibly damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Npas3 T C 12: 54,115,721 (GRCm39) V863A possibly damaging Het
Nr2c2 T A 6: 92,116,746 (GRCm39) probably null Het
Oosp3 T C 19: 11,682,794 (GRCm39) F56S possibly damaging Het
Or1a1b A T 11: 74,097,409 (GRCm39) L211Q probably damaging Het
Or5k17 C T 16: 58,746,172 (GRCm39) C254Y probably benign Het
Or8g20 C T 9: 39,396,283 (GRCm39) V89M probably damaging Het
Plgrkt G A 19: 29,327,850 (GRCm39) P78S probably damaging Het
Prss36 G A 7: 127,533,637 (GRCm39) Q56* probably null Het
Ptprz1 A G 6: 22,986,317 (GRCm39) probably null Het
Qsox2 A T 2: 26,107,699 (GRCm39) F265I probably damaging Het
R3hcc1l G T 19: 42,552,307 (GRCm39) E435* probably null Het
Shbg T C 11: 69,507,588 (GRCm39) D163G probably benign Het
Skint7 T A 4: 111,837,546 (GRCm39) L108H probably damaging Het
Smtnl1 T A 2: 84,649,238 (GRCm39) E5D probably benign Het
Spock1 C T 13: 57,704,608 (GRCm39) G120D probably damaging Het
Stk11ip G T 1: 75,508,971 (GRCm39) C700F probably damaging Het
Sult4a1 C T 15: 83,974,159 (GRCm39) probably null Het
Syngap1 A G 17: 27,176,126 (GRCm39) H138R probably damaging Het
Tdrd7 A G 4: 46,034,301 (GRCm39) K1016E probably benign Het
Tmem167b T C 3: 108,467,569 (GRCm39) K26E possibly damaging Het
Tnfaip3 A G 10: 18,883,943 (GRCm39) S146P probably damaging Het
Ttn C T 2: 76,607,060 (GRCm39) V16242I possibly damaging Het
Vmn2r-ps3 T A 3: 63,960,870 (GRCm39) noncoding transcript Het
Vps13c T C 9: 67,864,838 (GRCm39) F3049S probably damaging Het
Vstm2l T C 2: 157,777,355 (GRCm39) W78R probably damaging Het
Wbp1l C A 19: 46,642,695 (GRCm39) A216D possibly damaging Het
Zer1 C G 2: 29,994,866 (GRCm39) V510L probably damaging Het
Zfp28 A T 7: 6,397,850 (GRCm39) probably null Het
Zfp352 C A 4: 90,113,341 (GRCm39) P494T possibly damaging Het
Zfp353-ps A G 8: 42,535,600 (GRCm39) noncoding transcript Het
Zfp563 A T 17: 33,321,515 (GRCm39) probably null Het
Zim1 T C 7: 6,680,320 (GRCm39) N448D 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
R5523: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'- ACTTACAGCAAACCAGGGG -3'
(R):5'- GAGCTATGAACTGTCGGGAG -3'

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