Incidental Mutation 'R3923:Ehmt1'
ID |
474699 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ehmt1
|
Ensembl Gene |
ENSMUSG00000036893 |
Gene Name |
euchromatic histone methyltransferase 1 |
Synonyms |
9230102N17Rik, KMT1D |
MMRRC Submission |
040820-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3923 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
24680781-24809658 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 24774347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046227]
[ENSMUST00000091348]
[ENSMUST00000102938]
[ENSMUST00000114418]
[ENSMUST00000114432]
[ENSMUST00000198923]
[ENSMUST00000147147]
[ENSMUST00000152161]
[ENSMUST00000150379]
[ENSMUST00000200655]
|
AlphaFold |
Q5DW34 |
Predicted Effect |
silent
Transcript: ENSMUST00000046227
|
SMART Domains |
Protein: ENSMUSP00000046077 Gene: ENSMUSG00000036893
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 |
silent
Transcript: ENSMUST00000091348
|
SMART Domains |
Protein: ENSMUSP00000088906 Gene: ENSMUSG00000036893
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 |
silent
Transcript: ENSMUST00000102938
|
SMART Domains |
Protein: ENSMUSP00000100002 Gene: ENSMUSG00000036893
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 |
silent
Transcript: ENSMUST00000114418
|
SMART Domains |
Protein: ENSMUSP00000110061 Gene: ENSMUSG00000036893
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 |
silent
Transcript: ENSMUST00000114432
|
SMART Domains |
Protein: ENSMUSP00000110075 Gene: ENSMUSG00000036893
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 |
noncoding transcript
Transcript: ENSMUST00000139000
|
Predicted Effect |
probably null
Transcript: ENSMUST00000198923
|
SMART Domains |
Protein: ENSMUSP00000143189 Gene: ENSMUSG00000036893
Domain | Start | End | E-Value | Type |
low complexity region
|
208 |
227 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000147147
|
SMART Domains |
Protein: ENSMUSP00000119057 Gene: ENSMUSG00000036893
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 |
silent
Transcript: ENSMUST00000152161
|
SMART Domains |
Protein: ENSMUSP00000119854 Gene: ENSMUSG00000036893
Domain | Start | End | E-Value | Type |
low complexity region
|
339 |
358 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000150379
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200655
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
|
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 |
Adam22 |
T |
C |
5: 8,180,514 (GRCm39) |
M528V |
possibly damaging |
Het |
Ano3 |
T |
A |
2: 110,601,304 (GRCm39) |
Y318F |
probably damaging |
Het |
Asic4 |
T |
A |
1: 75,427,871 (GRCm39) |
D132E |
probably damaging |
Het |
Atp2b2 |
A |
G |
6: 113,774,069 (GRCm39) |
|
probably null |
Het |
Cast |
T |
C |
13: 74,876,532 (GRCm39) |
E447G |
probably damaging |
Het |
Ccdc110 |
T |
C |
8: 46,395,426 (GRCm39) |
I439T |
probably damaging |
Het |
Ccdc50 |
A |
T |
16: 27,263,294 (GRCm39) |
R264S |
probably damaging |
Het |
Cdhr18 |
T |
A |
14: 13,865,990 (GRCm38) |
K300* |
probably null |
Het |
Chd9 |
T |
A |
8: 91,660,147 (GRCm39) |
V369E |
probably benign |
Het |
Cnnm1 |
A |
G |
19: 43,428,884 (GRCm39) |
M1V |
probably null |
Het |
Col4a1 |
T |
A |
8: 11,251,665 (GRCm39) |
|
probably benign |
Het |
Crtac1 |
A |
G |
19: 42,322,386 (GRCm39) |
V118A |
probably damaging |
Het |
Ddx59 |
T |
A |
1: 136,344,482 (GRCm39) |
V51D |
probably benign |
Het |
Dipk1c |
A |
T |
18: 84,748,812 (GRCm39) |
T137S |
probably damaging |
Het |
Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
Emc1 |
T |
A |
4: 139,090,496 (GRCm39) |
L412* |
probably null |
Het |
Ep400 |
T |
C |
5: 110,904,389 (GRCm39) |
N70S |
possibly damaging |
Het |
Ercc6l2 |
T |
C |
13: 64,018,549 (GRCm39) |
|
probably benign |
Het |
Fry |
T |
C |
5: 150,336,814 (GRCm39) |
V1395A |
probably benign |
Het |
Gps1 |
A |
G |
11: 120,677,259 (GRCm39) |
N186S |
possibly damaging |
Het |
Hdgf |
T |
A |
3: 87,821,535 (GRCm39) |
D128E |
probably benign |
Het |
Hipk3 |
A |
G |
2: 104,301,107 (GRCm39) |
S362P |
probably damaging |
Het |
Hypk |
C |
A |
2: 121,288,683 (GRCm39) |
H116Q |
possibly damaging |
Het |
Ifna9 |
T |
A |
4: 88,510,508 (GRCm39) |
T39S |
possibly damaging |
Het |
Itgae |
A |
C |
11: 73,006,969 (GRCm39) |
D405A |
probably damaging |
Het |
Itprid1 |
T |
C |
6: 55,945,045 (GRCm39) |
S589P |
probably benign |
Het |
Kdm5a |
T |
C |
6: 120,358,625 (GRCm39) |
S223P |
probably benign |
Het |
Kif21a |
C |
T |
15: 90,821,497 (GRCm39) |
S1432N |
possibly damaging |
Het |
Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
Lrrn2 |
A |
G |
1: 132,866,230 (GRCm39) |
S432G |
probably benign |
Het |
Mlana |
T |
A |
19: 29,682,098 (GRCm39) |
S50R |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,364,149 (GRCm39) |
H4383Q |
probably damaging |
Het |
Ncor1 |
A |
G |
11: 62,216,442 (GRCm39) |
S1469P |
probably damaging |
Het |
Nol6 |
G |
T |
4: 41,121,531 (GRCm39) |
F270L |
probably benign |
Het |
Nr2c2 |
T |
A |
6: 92,137,382 (GRCm39) |
M431K |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,368,688 (GRCm39) |
I243V |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,951,754 (GRCm39) |
I4297V |
possibly damaging |
Het |
Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
Or52n1 |
T |
A |
7: 104,383,396 (GRCm39) |
E58D |
probably benign |
Het |
Or8k23 |
T |
C |
2: 86,186,205 (GRCm39) |
I174V |
probably benign |
Het |
Palb2 |
A |
T |
7: 121,716,583 (GRCm39) |
|
probably null |
Het |
Plod1 |
T |
C |
4: 148,000,280 (GRCm39) |
K260E |
possibly damaging |
Het |
Rgsl1 |
T |
C |
1: 153,679,876 (GRCm39) |
|
probably null |
Het |
Rpe65 |
T |
A |
3: 159,310,037 (GRCm39) |
F103L |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,672,218 (GRCm39) |
A1438T |
possibly damaging |
Het |
Slc17a3 |
G |
A |
13: 24,042,037 (GRCm39) |
V402M |
possibly damaging |
Het |
Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
Snph |
C |
T |
2: 151,435,431 (GRCm39) |
C430Y |
probably damaging |
Het |
Tarbp1 |
T |
C |
8: 127,167,510 (GRCm39) |
I1101V |
probably benign |
Het |
Tatdn1 |
G |
A |
15: 58,793,020 (GRCm39) |
L120F |
possibly damaging |
Het |
Trav3-3 |
A |
G |
14: 53,903,828 (GRCm39) |
K49E |
probably benign |
Het |
Trpv5 |
T |
C |
6: 41,630,183 (GRCm39) |
T636A |
probably benign |
Het |
Ube2l6 |
A |
G |
2: 84,639,418 (GRCm39) |
D127G |
possibly damaging |
Het |
Usp33 |
T |
A |
3: 152,080,428 (GRCm39) |
|
probably null |
Het |
Usp53 |
A |
T |
3: 122,727,954 (GRCm39) |
F876Y |
probably benign |
Het |
Utrn |
A |
T |
10: 12,615,223 (GRCm39) |
I316K |
probably benign |
Het |
Zfp106 |
G |
T |
2: 120,365,337 (GRCm39) |
Q357K |
probably damaging |
Het |
Zfp143 |
T |
C |
7: 109,673,398 (GRCm39) |
V138A |
probably damaging |
Het |
Zfp451 |
T |
C |
1: 33,818,126 (GRCm39) |
R118G |
probably null |
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 |
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 |
R7373:Ehmt1
|
UTSW |
2 |
24,809,585 (GRCm39) |
start codon destroyed |
probably null |
0.03 |
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 |
|
Posted On |
2017-04-14 |