Incidental Mutation 'IGL01403:Ehmt1'
ID |
79699 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ehmt1
|
Ensembl Gene |
ENSMUSG00000036893 |
Gene Name |
euchromatic histone methyltransferase 1 |
Synonyms |
9230102N17Rik, KMT1D |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01403
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
24680781-24809658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24729638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 633
(T633I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088906
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046227]
[ENSMUST00000091348]
[ENSMUST00000102938]
[ENSMUST00000114418]
[ENSMUST00000114432]
[ENSMUST00000147147]
[ENSMUST00000200655]
[ENSMUST00000152636]
|
AlphaFold |
Q5DW34 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046227
AA Change: T593I
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000046077 Gene: ENSMUSG00000036893 AA Change: T593I
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 |
possibly damaging
Transcript: ENSMUST00000091348
AA Change: T633I
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000088906 Gene: ENSMUSG00000036893 AA Change: T633I
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: T634I
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000100002 Gene: ENSMUSG00000036893 AA Change: T634I
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: T593I
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000110061 Gene: ENSMUSG00000036893 AA Change: T593I
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: T588I
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000110075 Gene: ENSMUSG00000036893 AA Change: T588I
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 |
possibly damaging
Transcript: ENSMUST00000147147
AA Change: T641I
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000119057 Gene: ENSMUSG00000036893 AA Change: T641I
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 benign
Transcript: ENSMUST00000200655
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150836
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152636
|
SMART Domains |
Protein: ENSMUSP00000141460 Gene: ENSMUSG00000036893
Domain | Start | End | E-Value | Type |
ANK
|
118 |
147 |
1.3e-7 |
SMART |
ANK
|
151 |
182 |
2e-7 |
SMART |
|
Coding Region Coverage |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
T |
12: 118,836,602 (GRCm39) |
L1103Q |
probably damaging |
Het |
Adam12 |
T |
A |
7: 133,521,339 (GRCm39) |
Q605L |
probably benign |
Het |
Adk |
A |
G |
14: 21,284,983 (GRCm39) |
K102R |
probably damaging |
Het |
Afdn |
C |
T |
17: 14,124,132 (GRCm39) |
P1761S |
probably damaging |
Het |
Ascc1 |
A |
G |
10: 59,848,280 (GRCm39) |
|
probably benign |
Het |
Aspdh |
A |
G |
7: 44,115,983 (GRCm39) |
|
probably null |
Het |
Bbx |
T |
C |
16: 50,022,876 (GRCm39) |
I753V |
probably benign |
Het |
Ccdc33 |
T |
C |
9: 58,024,668 (GRCm39) |
Y186C |
probably damaging |
Het |
Ccdc78 |
T |
A |
17: 26,007,218 (GRCm39) |
|
probably null |
Het |
Ckmt1 |
T |
C |
2: 121,193,447 (GRCm39) |
|
probably benign |
Het |
Csf1r |
A |
G |
18: 61,247,897 (GRCm39) |
T322A |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,155,460 (GRCm39) |
|
probably benign |
Het |
Dr1 |
A |
G |
5: 108,417,576 (GRCm39) |
N41D |
possibly damaging |
Het |
Fgf7 |
T |
A |
2: 125,877,860 (GRCm39) |
Y76N |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,468,848 (GRCm39) |
W5038R |
probably damaging |
Het |
Ighv14-1 |
A |
G |
12: 113,895,862 (GRCm39) |
V21A |
probably damaging |
Het |
Igkv5-37 |
T |
A |
6: 69,940,420 (GRCm39) |
I75F |
probably damaging |
Het |
Inhbc |
T |
A |
10: 127,205,968 (GRCm39) |
I100F |
probably damaging |
Het |
Irs3 |
A |
G |
5: 137,643,581 (GRCm39) |
F68L |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,337,569 (GRCm39) |
C2460S |
probably damaging |
Het |
Krt34 |
A |
G |
11: 99,929,116 (GRCm39) |
C365R |
possibly damaging |
Het |
Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
Ly6g |
A |
G |
15: 75,030,497 (GRCm39) |
N82S |
probably damaging |
Het |
Mrpl58 |
A |
T |
11: 115,297,404 (GRCm39) |
I72F |
probably damaging |
Het |
Myo9a |
G |
A |
9: 59,778,846 (GRCm39) |
R1534H |
probably damaging |
Het |
Npat |
T |
A |
9: 53,466,429 (GRCm39) |
F239L |
probably benign |
Het |
Nsd2 |
A |
G |
5: 34,042,722 (GRCm39) |
|
probably benign |
Het |
Nuggc |
T |
C |
14: 65,860,635 (GRCm39) |
V427A |
probably benign |
Het |
Or52b1 |
G |
A |
7: 104,978,605 (GRCm39) |
R265C |
probably benign |
Het |
Or5p55 |
A |
G |
7: 107,566,828 (GRCm39) |
T75A |
possibly damaging |
Het |
Pde4a |
A |
T |
9: 21,116,412 (GRCm39) |
I467F |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,347,229 (GRCm39) |
C198* |
probably null |
Het |
Pla2r1 |
A |
G |
2: 60,254,632 (GRCm39) |
V1312A |
probably damaging |
Het |
Pola2 |
T |
C |
19: 6,009,121 (GRCm39) |
H79R |
probably benign |
Het |
Potefam1 |
T |
C |
2: 111,059,515 (GRCm39) |
|
probably benign |
Het |
Pramel15 |
A |
T |
4: 144,103,703 (GRCm39) |
M141K |
probably benign |
Het |
Psen2 |
A |
T |
1: 180,062,548 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,334,126 (GRCm39) |
K3112E |
probably damaging |
Het |
Slc6a4 |
G |
T |
11: 76,922,498 (GRCm39) |
V630L |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,757,355 (GRCm39) |
|
probably benign |
Het |
Tmc8 |
A |
G |
11: 117,681,900 (GRCm39) |
T510A |
possibly damaging |
Het |
Usp18 |
T |
A |
6: 121,245,627 (GRCm39) |
H334Q |
possibly damaging |
Het |
Vmn2r103 |
T |
C |
17: 20,013,229 (GRCm39) |
Y117H |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,709,625 (GRCm39) |
D1857E |
probably benign |
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 |
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 |
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 |
|
Posted On |
2013-11-05 |