Incidental Mutation 'R7373:Ehmt1'
ID |
572199 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ehmt1
|
Ensembl Gene |
ENSMUSG00000036893 |
Gene Name |
euchromatic histone methyltransferase 1 |
Synonyms |
9230102N17Rik, KMT1D |
MMRRC Submission |
045456-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7373 (G1)
|
Quality Score |
102.008 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
24680781-24809658 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to G
at 24809585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046227]
[ENSMUST00000091348]
[ENSMUST00000102938]
[ENSMUST00000114432]
[ENSMUST00000147147]
[ENSMUST00000150379]
[ENSMUST00000152161]
[ENSMUST00000200655]
|
AlphaFold |
Q5DW34 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046227
AA Change: M1T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000046077 Gene: ENSMUSG00000036893 AA Change: M1T
Domain | Start | End | E-Value | Type |
low complexity region
|
340 |
359 |
N/A |
INTRINSIC |
low complexity region
|
398 |
419 |
N/A |
INTRINSIC |
low complexity region
|
440 |
452 |
N/A |
INTRINSIC |
ANK
|
722 |
751 |
2.02e-5 |
SMART |
ANK
|
755 |
786 |
3.06e-5 |
SMART |
ANK
|
788 |
818 |
1.69e-7 |
SMART |
ANK
|
822 |
851 |
6.65e-6 |
SMART |
ANK
|
855 |
884 |
7.71e-2 |
SMART |
ANK
|
888 |
917 |
6.12e-5 |
SMART |
ANK
|
921 |
954 |
7.29e2 |
SMART |
PreSET
|
961 |
1060 |
1.05e-30 |
SMART |
SET
|
1076 |
1199 |
2.24e-43 |
SMART |
low complexity region
|
1216 |
1229 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000091348
AA Change: M1T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000088906 Gene: ENSMUSG00000036893 AA Change: M1T
Domain | Start | End | E-Value | Type |
low complexity region
|
333 |
352 |
N/A |
INTRINSIC |
low complexity region
|
391 |
412 |
N/A |
INTRINSIC |
low complexity region
|
433 |
445 |
N/A |
INTRINSIC |
ANK
|
763 |
792 |
2.02e-5 |
SMART |
ANK
|
796 |
827 |
3.06e-5 |
SMART |
ANK
|
829 |
859 |
1.69e-7 |
SMART |
ANK
|
863 |
892 |
6.65e-6 |
SMART |
ANK
|
896 |
925 |
7.71e-2 |
SMART |
ANK
|
929 |
958 |
6.12e-5 |
SMART |
ANK
|
962 |
995 |
7.29e2 |
SMART |
PreSET
|
1002 |
1101 |
1.05e-30 |
SMART |
SET
|
1117 |
1240 |
2.24e-43 |
SMART |
low complexity region
|
1257 |
1270 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000102938
AA Change: M1T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000100002 Gene: ENSMUSG00000036893 AA Change: M1T
Domain | Start | End | E-Value | Type |
low complexity region
|
340 |
359 |
N/A |
INTRINSIC |
low complexity region
|
398 |
419 |
N/A |
INTRINSIC |
low complexity region
|
440 |
452 |
N/A |
INTRINSIC |
ANK
|
770 |
799 |
2.02e-5 |
SMART |
ANK
|
803 |
834 |
3.06e-5 |
SMART |
ANK
|
836 |
866 |
1.69e-7 |
SMART |
ANK
|
870 |
899 |
6.65e-6 |
SMART |
ANK
|
903 |
932 |
7.71e-2 |
SMART |
ANK
|
936 |
965 |
6.12e-5 |
SMART |
ANK
|
969 |
1002 |
7.29e2 |
SMART |
PreSET
|
1009 |
1108 |
1.05e-30 |
SMART |
SET
|
1124 |
1247 |
2.24e-43 |
SMART |
low complexity region
|
1264 |
1277 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114432
AA Change: M1T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000110075 Gene: ENSMUSG00000036893 AA Change: M1T
Domain | Start | End | E-Value | Type |
low complexity region
|
333 |
352 |
N/A |
INTRINSIC |
low complexity region
|
391 |
412 |
N/A |
INTRINSIC |
low complexity region
|
433 |
445 |
N/A |
INTRINSIC |
ANK
|
717 |
746 |
2.02e-5 |
SMART |
ANK
|
750 |
781 |
3.06e-5 |
SMART |
ANK
|
783 |
813 |
1.69e-7 |
SMART |
ANK
|
817 |
846 |
6.65e-6 |
SMART |
ANK
|
850 |
879 |
7.71e-2 |
SMART |
ANK
|
883 |
912 |
6.12e-5 |
SMART |
ANK
|
916 |
949 |
7.29e2 |
SMART |
PreSET
|
956 |
1055 |
1.05e-30 |
SMART |
SET
|
1071 |
1194 |
2.24e-43 |
SMART |
low complexity region
|
1211 |
1224 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000147147
AA Change: M1T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000119057 Gene: ENSMUSG00000036893 AA Change: M1T
Domain | Start | End | E-Value | Type |
low complexity region
|
252 |
271 |
N/A |
INTRINSIC |
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
low complexity region
|
352 |
364 |
N/A |
INTRINSIC |
ANK
|
634 |
663 |
2.02e-5 |
SMART |
ANK
|
667 |
698 |
3.06e-5 |
SMART |
ANK
|
700 |
730 |
1.69e-7 |
SMART |
ANK
|
734 |
763 |
6.65e-6 |
SMART |
ANK
|
767 |
796 |
7.71e-2 |
SMART |
ANK
|
800 |
829 |
6.12e-5 |
SMART |
ANK
|
833 |
866 |
7.29e2 |
SMART |
PreSET
|
873 |
972 |
1.05e-30 |
SMART |
SET
|
988 |
1111 |
2.24e-43 |
SMART |
low complexity region
|
1128 |
1141 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150379
AA Change: M1T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000152161
AA Change: M1T
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000119854 Gene: ENSMUSG00000036893 AA Change: M1T
Domain | Start | End | E-Value | Type |
low complexity region
|
339 |
358 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000200655
AA Change: M1T
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (57/58) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] PHENOTYPE: Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
G |
A |
11: 50,686,262 (GRCm39) |
A1027T |
probably benign |
Het |
Aldh7a1 |
G |
A |
18: 56,675,389 (GRCm39) |
T260M |
possibly damaging |
Het |
Anks3 |
T |
C |
16: 4,773,735 (GRCm39) |
Y187C |
probably benign |
Het |
Atp2c2 |
A |
T |
8: 120,456,991 (GRCm39) |
I198F |
probably benign |
Het |
Bsn |
T |
C |
9: 107,990,683 (GRCm39) |
T1690A |
probably damaging |
Het |
Catsper3 |
T |
C |
13: 55,955,945 (GRCm39) |
I350T |
possibly damaging |
Het |
Cdcp1 |
C |
T |
9: 123,006,965 (GRCm39) |
R594H |
probably damaging |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Cldn1 |
G |
T |
16: 26,179,606 (GRCm39) |
P154T |
probably damaging |
Het |
Cntnap5a |
A |
T |
1: 116,508,367 (GRCm39) |
N1293I |
probably benign |
Het |
Cpsf4l |
C |
T |
11: 113,590,657 (GRCm39) |
|
probably null |
Het |
Crybg1 |
T |
C |
10: 43,880,136 (GRCm39) |
T351A |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,042,713 (GRCm39) |
N2340S |
probably damaging |
Het |
Dennd4a |
C |
A |
9: 64,804,551 (GRCm39) |
Q1297K |
probably benign |
Het |
Dll3 |
A |
G |
7: 27,994,057 (GRCm39) |
V460A |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,986,939 (GRCm39) |
|
probably null |
Het |
Dst |
G |
T |
1: 34,227,472 (GRCm39) |
L1688F |
probably benign |
Het |
Fasn |
A |
T |
11: 120,704,802 (GRCm39) |
L1261Q |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,479,702 (GRCm39) |
D2916G |
probably damaging |
Het |
Fgfr3 |
C |
A |
5: 33,885,034 (GRCm39) |
F49L |
probably benign |
Het |
Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
Hormad1 |
A |
T |
3: 95,483,628 (GRCm39) |
T147S |
probably damaging |
Het |
Igf1r |
T |
A |
7: 67,844,826 (GRCm39) |
Y866* |
probably null |
Het |
Itgb8 |
A |
G |
12: 119,166,210 (GRCm39) |
V107A |
probably benign |
Het |
Kat2a |
C |
T |
11: 100,599,392 (GRCm39) |
A533T |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,913,071 (GRCm39) |
L328P |
probably damaging |
Het |
Lims1 |
T |
C |
10: 58,245,442 (GRCm39) |
F157S |
probably damaging |
Het |
Lrp2 |
G |
T |
2: 69,331,036 (GRCm39) |
H1673Q |
probably damaging |
Het |
Lrrc46 |
C |
A |
11: 96,929,706 (GRCm39) |
M43I |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,584,207 (GRCm39) |
|
probably null |
Het |
Meox2 |
A |
T |
12: 37,158,797 (GRCm39) |
|
probably benign |
Het |
Mff |
A |
G |
1: 82,714,838 (GRCm39) |
|
probably null |
Het |
Mfsd5 |
T |
A |
15: 102,189,427 (GRCm39) |
F266L |
probably damaging |
Het |
Miga2 |
A |
G |
2: 30,272,083 (GRCm39) |
T468A |
probably damaging |
Het |
Mmel1 |
T |
A |
4: 154,973,665 (GRCm39) |
L316Q |
not run |
Het |
Ndufa9 |
C |
A |
6: 126,811,421 (GRCm39) |
G232C |
probably damaging |
Het |
Obox2 |
A |
T |
7: 15,131,145 (GRCm39) |
K84* |
probably null |
Het |
Or4f58 |
T |
A |
2: 111,851,787 (GRCm39) |
R137S |
probably benign |
Het |
Or51a39 |
T |
A |
7: 102,363,306 (GRCm39) |
I105F |
possibly damaging |
Het |
Otogl |
G |
T |
10: 107,737,112 (GRCm39) |
Q101K |
probably damaging |
Het |
Pcnx2 |
C |
T |
8: 126,534,766 (GRCm39) |
V1288M |
probably damaging |
Het |
Pde10a |
T |
A |
17: 9,161,824 (GRCm39) |
W220R |
probably benign |
Het |
Recql5 |
T |
C |
11: 115,819,198 (GRCm39) |
T123A |
possibly damaging |
Het |
Rpl28 |
T |
C |
7: 4,796,602 (GRCm39) |
V61A |
probably benign |
Het |
Secisbp2l |
A |
T |
2: 125,599,191 (GRCm39) |
M494K |
probably damaging |
Het |
Sh3bgr |
G |
A |
16: 96,007,035 (GRCm39) |
E2K |
unknown |
Het |
Shcbp1l |
C |
A |
1: 153,300,986 (GRCm39) |
T6K |
probably benign |
Het |
Slc22a15 |
A |
C |
3: 101,785,213 (GRCm39) |
L353R |
possibly damaging |
Het |
Sqle |
T |
C |
15: 59,189,658 (GRCm39) |
I100T |
probably benign |
Het |
Tas2r106 |
A |
T |
6: 131,655,317 (GRCm39) |
L178H |
probably damaging |
Het |
Tll1 |
A |
T |
8: 64,504,391 (GRCm39) |
N668K |
probably damaging |
Het |
Tm7sf2 |
A |
G |
19: 6,116,676 (GRCm39) |
S118P |
probably benign |
Het |
Tmco5 |
G |
T |
2: 116,717,226 (GRCm39) |
V169L |
probably benign |
Het |
Trpv1 |
A |
G |
11: 73,131,499 (GRCm39) |
K346E |
probably damaging |
Het |
Ttk |
G |
A |
9: 83,736,930 (GRCm39) |
R463H |
probably benign |
Het |
Vmn2r120 |
G |
T |
17: 57,816,406 (GRCm39) |
L650I |
probably benign |
Het |
Vmn2r58 |
C |
T |
7: 41,487,212 (GRCm39) |
C561Y |
probably damaging |
Het |
Vmn2r-ps117 |
A |
T |
17: 19,044,948 (GRCm39) |
Q455L |
probably benign |
Het |
Zfr |
T |
A |
15: 12,140,645 (GRCm39) |
S231T |
unknown |
Het |
|
Other mutations in Ehmt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00481:Ehmt1
|
APN |
2 |
24,728,830 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01403:Ehmt1
|
APN |
2 |
24,729,638 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01636:Ehmt1
|
APN |
2 |
24,729,620 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01804:Ehmt1
|
APN |
2 |
24,681,966 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01836:Ehmt1
|
APN |
2 |
24,753,232 (GRCm39) |
splice site |
probably null |
|
IGL02740:Ehmt1
|
APN |
2 |
24,705,851 (GRCm39) |
splice site |
probably benign |
|
IGL02750:Ehmt1
|
APN |
2 |
24,753,881 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03026:Ehmt1
|
APN |
2 |
24,742,746 (GRCm39) |
missense |
probably benign |
|
IGL02799:Ehmt1
|
UTSW |
2 |
24,705,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R0908:Ehmt1
|
UTSW |
2 |
24,694,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R1275:Ehmt1
|
UTSW |
2 |
24,777,007 (GRCm39) |
critical splice donor site |
probably null |
|
R1665:Ehmt1
|
UTSW |
2 |
24,767,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R1707:Ehmt1
|
UTSW |
2 |
24,695,150 (GRCm39) |
missense |
probably benign |
|
R1800:Ehmt1
|
UTSW |
2 |
24,774,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R2108:Ehmt1
|
UTSW |
2 |
24,727,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R2113:Ehmt1
|
UTSW |
2 |
24,694,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R2393:Ehmt1
|
UTSW |
2 |
24,696,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R2570:Ehmt1
|
UTSW |
2 |
24,705,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R3923:Ehmt1
|
UTSW |
2 |
24,774,347 (GRCm39) |
splice site |
probably null |
|
R4646:Ehmt1
|
UTSW |
2 |
24,781,696 (GRCm39) |
missense |
probably null |
0.01 |
R4924:Ehmt1
|
UTSW |
2 |
24,729,734 (GRCm39) |
missense |
probably damaging |
0.97 |
R4989:Ehmt1
|
UTSW |
2 |
24,767,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R5040:Ehmt1
|
UTSW |
2 |
24,774,316 (GRCm39) |
missense |
probably benign |
0.19 |
R5110:Ehmt1
|
UTSW |
2 |
24,742,802 (GRCm39) |
missense |
probably benign |
0.01 |
R5133:Ehmt1
|
UTSW |
2 |
24,767,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R5134:Ehmt1
|
UTSW |
2 |
24,767,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R5161:Ehmt1
|
UTSW |
2 |
24,748,207 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5162:Ehmt1
|
UTSW |
2 |
24,767,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R5183:Ehmt1
|
UTSW |
2 |
24,767,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R5184:Ehmt1
|
UTSW |
2 |
24,767,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R5208:Ehmt1
|
UTSW |
2 |
24,691,545 (GRCm39) |
missense |
probably benign |
0.34 |
R5309:Ehmt1
|
UTSW |
2 |
24,774,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R5312:Ehmt1
|
UTSW |
2 |
24,774,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R5837:Ehmt1
|
UTSW |
2 |
24,753,926 (GRCm39) |
missense |
probably damaging |
0.98 |
R5968:Ehmt1
|
UTSW |
2 |
24,726,469 (GRCm39) |
missense |
probably damaging |
0.99 |
R6539:Ehmt1
|
UTSW |
2 |
24,694,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R6646:Ehmt1
|
UTSW |
2 |
24,696,322 (GRCm39) |
missense |
probably damaging |
0.99 |
R7065:Ehmt1
|
UTSW |
2 |
24,730,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R7226:Ehmt1
|
UTSW |
2 |
24,694,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R7361:Ehmt1
|
UTSW |
2 |
24,746,713 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7410:Ehmt1
|
UTSW |
2 |
24,738,080 (GRCm39) |
missense |
probably benign |
|
R7418:Ehmt1
|
UTSW |
2 |
24,774,646 (GRCm39) |
missense |
probably benign |
0.02 |
R7633:Ehmt1
|
UTSW |
2 |
24,705,792 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7716:Ehmt1
|
UTSW |
2 |
24,774,511 (GRCm39) |
missense |
probably damaging |
0.99 |
R7916:Ehmt1
|
UTSW |
2 |
24,746,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R8112:Ehmt1
|
UTSW |
2 |
24,753,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R8356:Ehmt1
|
UTSW |
2 |
24,742,781 (GRCm39) |
missense |
probably benign |
|
R8879:Ehmt1
|
UTSW |
2 |
24,726,488 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9133:Ehmt1
|
UTSW |
2 |
24,729,635 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9217:Ehmt1
|
UTSW |
2 |
24,729,578 (GRCm39) |
missense |
probably benign |
0.11 |
R9248:Ehmt1
|
UTSW |
2 |
24,738,077 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9365:Ehmt1
|
UTSW |
2 |
24,728,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R9439:Ehmt1
|
UTSW |
2 |
24,715,030 (GRCm39) |
missense |
probably damaging |
0.99 |
R9460:Ehmt1
|
UTSW |
2 |
24,728,791 (GRCm39) |
missense |
probably benign |
|
R9684:Ehmt1
|
UTSW |
2 |
24,753,329 (GRCm39) |
missense |
possibly damaging |
0.82 |
X0062:Ehmt1
|
UTSW |
2 |
24,753,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGATGGTGCCACGCTCTC -3'
(R):5'- GGTTGAATTTCAGCGCGCAG -3'
Sequencing Primer
(F):5'- AGTTGGCCCGGTCCACTTTG -3'
(R):5'- TGCTCACGCAGGCGCAGGA -3'
|
Posted On |
2019-09-13 |