Incidental Mutation 'R3827:Ehmt2'
ID 273824
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 040775-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3827 (G1)
Quality Score 214
Status Not validated
Chromosome 17
Chromosomal Location 35117445-35133028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35125741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 625 (S625P)
Ref Sequence ENSEMBL: ENSMUSP00000094955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013931] [ENSMUST00000078061] [ENSMUST00000097342] [ENSMUST00000114033] [ENSMUST00000124846] [ENSMUST00000137071]
AlphaFold Q9Z148
Predicted Effect probably benign
Transcript: ENSMUST00000013931
AA Change: S659P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787
AA Change: S659P

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 possibly damaging
Transcript: ENSMUST00000078061
AA Change: S568P

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787
AA Change: S568P

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 possibly damaging
Transcript: ENSMUST00000097342
AA Change: S625P

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787
AA Change: S625P

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
AA Change: S602P

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787
AA Change: S602P

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: ENSMUST00000124002
Predicted Effect probably benign
Transcript: ENSMUST00000124846
AA Change: S170P

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121838
Gene: ENSMUSG00000013787
AA Change: S170P

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 noncoding transcript
Transcript: ENSMUST00000131915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138500
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: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 A G 16: 35,110,467 (GRCm39) N878S probably benign Het
Bach2 T A 4: 32,563,150 (GRCm39) L539H probably damaging Het
Cntnap5a G A 1: 116,045,409 (GRCm39) D342N probably benign Het
Cx3cl1 A T 8: 95,503,934 (GRCm39) probably benign Het
Dpp10 G A 1: 123,339,519 (GRCm39) T336I possibly damaging Het
Fam234a T C 17: 26,437,163 (GRCm39) E172G probably benign Het
Ffar2 A T 7: 30,519,510 (GRCm39) I10N possibly damaging Het
Gab2 T A 7: 96,872,948 (GRCm39) I117N probably damaging Het
Gm17521 C A X: 121,938,922 (GRCm39) G149C unknown Het
Gper1 T C 5: 139,412,755 (GRCm39) S367P probably benign Het
Grpel1 T A 5: 36,626,827 (GRCm39) N36K probably benign Het
H2-Q6 A T 17: 35,644,655 (GRCm39) N148I probably damaging Het
Kif21b T C 1: 136,090,732 (GRCm39) probably null Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Or1o4 T A 17: 37,591,140 (GRCm39) Y57F probably damaging Het
Or52e19 T A 7: 102,959,009 (GRCm39) I27N probably benign Het
Paip1 T A 13: 119,566,768 (GRCm39) M1K probably null Het
Rgs12 G A 5: 35,123,359 (GRCm39) V381M possibly damaging Het
Rrm2 G T 12: 24,758,598 (GRCm39) A47S probably benign Het
Rsph6a T C 7: 18,791,539 (GRCm39) L236P probably damaging Het
Rtkn2 A T 10: 67,833,456 (GRCm39) probably null Het
Sh3bp1 T C 15: 78,788,697 (GRCm39) S241P possibly damaging Het
Skint6 G T 4: 112,794,634 (GRCm39) L712I probably benign Het
Slc35a4 C A 18: 36,816,041 (GRCm39) N290K probably damaging Het
Slco1a5 T A 6: 142,198,975 (GRCm39) D230V probably damaging Het
Sox21 C T 14: 118,472,870 (GRCm39) E60K possibly damaging Het
Steap3 G A 1: 120,155,460 (GRCm39) R500C probably damaging Het
Stk11 T C 10: 79,963,782 (GRCm39) probably null Het
Sulf1 G A 1: 12,887,656 (GRCm39) V277I probably benign Het
Svep1 A G 4: 58,096,177 (GRCm39) L1481P probably damaging Het
Syne2 A G 12: 76,033,805 (GRCm39) R3685G probably benign Het
Tmem203 T A 2: 25,146,018 (GRCm39) W113R possibly damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tspan18 T C 2: 93,050,453 (GRCm39) I57V probably benign Het
Vmn2r102 T A 17: 19,914,787 (GRCm39) V784E probably damaging Het
Wrn T C 8: 33,814,548 (GRCm39) T56A probably benign Het
Zfhx4 A T 3: 5,466,269 (GRCm39) K2142N 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
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
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'- ATGGGATGGTCTTCTGTCCC -3'
(R):5'- TCAGATTTAAGTACCGACAGCAAC -3'

Sequencing Primer
(F):5'- TTCTGTCCCCACTGTGGAGAG -3'
(R):5'- GCAACACCTGCGTTTCTGG -3'
Posted On 2015-04-02