Incidental Mutation 'R7633:Ehmt1'
ID |
589739 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ehmt1
|
Ensembl Gene |
ENSMUSG00000036893 |
Gene Name |
euchromatic histone methyltransferase 1 |
Synonyms |
9230102N17Rik, KMT1D |
MMRRC Submission |
045721-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7633 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
24680781-24809658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24705792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 851
(D851G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046227]
[ENSMUST00000091348]
[ENSMUST00000102938]
[ENSMUST00000114418]
[ENSMUST00000114432]
[ENSMUST00000147147]
[ENSMUST00000152636]
|
AlphaFold |
Q5DW34 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046227
AA Change: D803G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000046077 Gene: ENSMUSG00000036893 AA Change: D803G
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 benign
Transcript: ENSMUST00000091348
AA Change: D843G
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000088906 Gene: ENSMUSG00000036893 AA Change: D843G
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 benign
Transcript: ENSMUST00000102938
AA Change: D844G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000100002 Gene: ENSMUSG00000036893 AA Change: D844G
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 benign
Transcript: ENSMUST00000114418
AA Change: D803G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000110061 Gene: ENSMUSG00000036893 AA Change: D803G
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 benign
Transcript: ENSMUST00000114432
AA Change: D798G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000110075 Gene: ENSMUSG00000036893 AA Change: D798G
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 |
possibly damaging
Transcript: ENSMUST00000147147
AA Change: D851G
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000119057 Gene: ENSMUSG00000036893 AA Change: D851G
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: ENSMUST00000152636
AA Change: *204W
|
SMART Domains |
Protein: ENSMUSP00000141460 Gene: ENSMUSG00000036893 AA Change: *204W
Domain | Start | End | E-Value | Type |
ANK
|
118 |
147 |
1.3e-7 |
SMART |
ANK
|
151 |
182 |
2e-7 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (52/52) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
Acaca |
A |
G |
11: 84,263,465 (GRCm39) |
I2029V |
probably benign |
Het |
Anks1b |
A |
C |
10: 90,784,446 (GRCm39) |
D1138A |
probably damaging |
Het |
Atr |
T |
A |
9: 95,829,171 (GRCm39) |
V2508E |
probably damaging |
Het |
C4b |
C |
T |
17: 34,948,373 (GRCm39) |
|
probably null |
Het |
Calhm4 |
G |
A |
10: 33,919,904 (GRCm39) |
T121M |
possibly damaging |
Het |
Cd46 |
A |
T |
1: 194,765,927 (GRCm39) |
M146K |
probably null |
Het |
Chp1 |
A |
G |
2: 119,391,226 (GRCm39) |
I28V |
probably benign |
Het |
Chrnb1 |
T |
A |
11: 69,683,699 (GRCm39) |
R216W |
probably damaging |
Het |
Clmn |
G |
A |
12: 104,748,371 (GRCm39) |
T392M |
probably benign |
Het |
Cracd |
A |
G |
5: 77,005,367 (GRCm39) |
E576G |
unknown |
Het |
Dcxr |
A |
C |
11: 120,617,279 (GRCm39) |
L88R |
probably benign |
Het |
Dedd |
C |
T |
1: 171,166,478 (GRCm39) |
P138L |
probably benign |
Het |
Degs1 |
A |
G |
1: 182,107,263 (GRCm39) |
S35P |
probably damaging |
Het |
Fam117b |
A |
G |
1: 60,020,693 (GRCm39) |
D521G |
probably damaging |
Het |
Gm6882 |
A |
G |
7: 21,161,577 (GRCm39) |
V97A |
probably damaging |
Het |
Hgs |
A |
T |
11: 120,365,128 (GRCm39) |
Q172L |
probably damaging |
Het |
Hormad2 |
T |
C |
11: 4,296,662 (GRCm39) |
Q274R |
probably benign |
Het |
Igkv8-19 |
C |
T |
6: 70,318,383 (GRCm39) |
|
probably benign |
Het |
Ikbkb |
T |
C |
8: 23,161,757 (GRCm39) |
N377S |
probably benign |
Het |
Intu |
G |
A |
3: 40,608,683 (GRCm39) |
G232S |
probably damaging |
Het |
Lypd9 |
C |
A |
11: 58,338,304 (GRCm39) |
M29I |
probably benign |
Het |
Mov10 |
A |
G |
3: 104,704,381 (GRCm39) |
S806P |
possibly damaging |
Het |
Mrgprb1 |
A |
G |
7: 48,097,331 (GRCm39) |
F194L |
probably benign |
Het |
Notch3 |
A |
T |
17: 32,377,596 (GRCm39) |
I160K |
probably benign |
Het |
Nup155 |
C |
G |
15: 8,138,937 (GRCm39) |
S3W |
probably damaging |
Het |
Or4k41 |
A |
G |
2: 111,279,967 (GRCm39) |
I161V |
probably benign |
Het |
Or8s5 |
A |
G |
15: 98,237,967 (GRCm39) |
I301T |
probably damaging |
Het |
Plxdc1 |
A |
T |
11: 97,846,977 (GRCm39) |
F147L |
possibly damaging |
Het |
Ppfia1 |
T |
C |
7: 144,106,173 (GRCm39) |
D33G |
possibly damaging |
Het |
Prdm11 |
G |
A |
2: 92,810,999 (GRCm39) |
A200V |
probably damaging |
Het |
Qrich2 |
A |
T |
11: 116,347,455 (GRCm39) |
I1123K |
unknown |
Het |
Rgs1 |
A |
G |
1: 144,124,215 (GRCm39) |
|
probably null |
Het |
Skint7 |
T |
A |
4: 111,841,337 (GRCm39) |
V259E |
probably benign |
Het |
Slc25a3 |
A |
T |
10: 90,953,904 (GRCm39) |
|
probably null |
Het |
Slc28a2b |
A |
T |
2: 122,317,161 (GRCm39) |
R7S |
probably null |
Het |
Slco1a6 |
A |
T |
6: 142,091,481 (GRCm39) |
I73N |
probably damaging |
Het |
Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
Spock2 |
G |
A |
10: 59,962,002 (GRCm39) |
D206N |
probably damaging |
Het |
Stard3nl |
T |
G |
13: 19,552,008 (GRCm39) |
R185S |
probably damaging |
Het |
Supt16 |
A |
G |
14: 52,434,556 (GRCm39) |
Y18H |
probably benign |
Het |
Synpo |
G |
A |
18: 60,736,500 (GRCm39) |
T482I |
probably damaging |
Het |
Tcstv7b |
G |
A |
13: 120,702,376 (GRCm39) |
W57* |
probably null |
Het |
Tmc6 |
G |
T |
11: 117,660,046 (GRCm39) |
T694K |
probably benign |
Het |
Trim59 |
T |
A |
3: 68,945,259 (GRCm39) |
H27L |
probably damaging |
Het |
Trpv2 |
G |
A |
11: 62,481,832 (GRCm39) |
|
probably null |
Het |
Tyw5 |
A |
T |
1: 57,432,644 (GRCm39) |
D117E |
probably benign |
Het |
Usp17la |
T |
C |
7: 104,510,354 (GRCm39) |
Y320H |
probably damaging |
Het |
Usp31 |
T |
C |
7: 121,258,185 (GRCm39) |
D694G |
probably damaging |
Het |
Vmn1r159 |
T |
A |
7: 22,542,448 (GRCm39) |
T195S |
probably damaging |
Het |
Vmn2r57 |
C |
T |
7: 41,074,513 (GRCm39) |
V517M |
possibly damaging |
Het |
Yipf1 |
A |
G |
4: 107,176,193 (GRCm39) |
N29S |
probably benign |
Het |
Zfp954 |
A |
T |
7: 7,118,823 (GRCm39) |
F240L |
possibly damaging |
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 |
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 |
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'- TGCACAGAGGCCCTACAAAG -3'
(R):5'- CTTGCGTTCAGTCGAATGG -3'
Sequencing Primer
(F):5'- ACCATGGATTCTGCTGCAG -3'
(R):5'- AATGGATTCGTTGACAGGACCTCC -3'
|
Posted On |
2019-10-24 |