Incidental Mutation 'R3915:Ehmt2'
| ID |
309619 |
| 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 |
040913-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35117445-35133028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35122443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 280
(S280P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013931]
[ENSMUST00000078061]
[ENSMUST00000097342]
[ENSMUST00000114033]
[ENSMUST00000124846]
[ENSMUST00000137071]
|
| AlphaFold |
Q9Z148 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013931
AA Change: S337P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787
AA Change: S337P
| Domain | Start | End | E-Value | Type |
|---|
|
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: S280P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787
AA Change: S280P
| Domain | Start | End | E-Value | Type |
|---|
|
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: S337P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787
AA Change: S337P
| Domain | Start | End | E-Value | Type |
|---|
|
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: S280P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787
AA Change: S280P
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000137071
|
| SMART Domains |
Protein: ENSMUSP00000134749
Gene: ENSMUSG00000013787
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
noncoding transcript
Transcript: ENSMUST00000145624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172921
|
| SMART Domains |
Protein: ENSMUSP00000134089
Gene: ENSMUSG00000013787
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Meta Mutation Damage Score |
0.0650 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
G |
A |
5: 3,627,248 (GRCm39) |
V75I |
possibly damaging |
Het |
| AA986860 |
A |
G |
1: 130,670,344 (GRCm39) |
K189E |
probably benign |
Het |
| Abcf1 |
C |
T |
17: 36,270,402 (GRCm39) |
R596H |
possibly damaging |
Het |
| Abtb3 |
C |
A |
10: 85,468,134 (GRCm39) |
H810N |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,460,169 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,886,603 (GRCm39) |
K644E |
probably benign |
Het |
| Btnl7-ps |
T |
A |
17: 34,760,489 (GRCm39) |
|
noncoding transcript |
Het |
| Car8 |
A |
T |
4: 8,184,576 (GRCm39) |
|
probably benign |
Het |
| Ccdc62 |
C |
T |
5: 124,092,778 (GRCm39) |
R588C |
probably damaging |
Het |
| Clasp2 |
T |
G |
9: 113,737,805 (GRCm39) |
S374A |
probably damaging |
Het |
| Ctnnb1 |
A |
G |
9: 120,784,717 (GRCm39) |
H503R |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,456,776 (GRCm39) |
H703R |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,735,375 (GRCm39) |
Q133L |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,420 (GRCm39) |
T294S |
probably benign |
Het |
| Eomes |
A |
G |
9: 118,310,341 (GRCm39) |
M351V |
probably benign |
Het |
| Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
| Fam222b |
C |
G |
11: 78,045,756 (GRCm39) |
P439R |
probably benign |
Het |
| Gbp11 |
T |
A |
5: 105,478,978 (GRCm39) |
K153N |
probably damaging |
Het |
| Golim4 |
T |
C |
3: 75,810,634 (GRCm39) |
T174A |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 35,242,684 (GRCm39) |
Y679C |
probably damaging |
Het |
| Gvin-ps5 |
A |
G |
7: 105,929,445 (GRCm39) |
S151P |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,381,412 (GRCm39) |
D56G |
probably damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,916,382 (GRCm39) |
D348G |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,103,957 (GRCm39) |
L1319P |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,339,248 (GRCm39) |
D751V |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,551 (GRCm39) |
C440R |
probably benign |
Het |
| Mbd2 |
T |
C |
18: 70,755,680 (GRCm39) |
V382A |
probably benign |
Het |
| Or13a17 |
T |
A |
7: 140,270,888 (GRCm39) |
D23E |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Or6c68 |
G |
A |
10: 129,158,178 (GRCm39) |
A229T |
probably benign |
Het |
| Pgs1 |
T |
G |
11: 117,910,472 (GRCm39) |
S528A |
probably benign |
Het |
| Pitpnm3 |
T |
C |
11: 72,003,110 (GRCm39) |
T67A |
probably damaging |
Het |
| Pnliprp2 |
T |
G |
19: 58,748,794 (GRCm39) |
V33G |
probably damaging |
Het |
| Ptn |
T |
C |
6: 36,720,282 (GRCm39) |
N90S |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,397,475 (GRCm39) |
|
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,119,122 (GRCm39) |
S505F |
probably damaging |
Het |
| Sesn1 |
G |
A |
10: 41,770,886 (GRCm39) |
R139H |
probably benign |
Het |
| Slc17a7 |
T |
A |
7: 44,818,144 (GRCm39) |
L23Q |
probably damaging |
Het |
| Slc30a10 |
G |
T |
1: 185,187,333 (GRCm39) |
E25* |
probably null |
Het |
| Smco1 |
A |
G |
16: 32,092,583 (GRCm39) |
I85V |
probably benign |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,496 (GRCm39) |
S239R |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,974,074 (GRCm39) |
V237D |
possibly damaging |
Het |
|
| Other mutations in Ehmt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- GCCAGGAACCTCAGACTCTG -3'
(R):5'- CTCTAACCCCAGGATGAGCG -3'
Sequencing Primer
(F):5'- GGAACCTCAGACTCTGTCATC -3'
(R):5'- CCAGCTTGGTCTACTAGTGAGAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation