Incidental Mutation 'R1707:Ehmt1'
| ID |
190111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehmt1
|
| Ensembl Gene |
ENSMUSG00000036893 |
| Gene Name |
euchromatic histone methyltransferase 1 |
| Synonyms |
9230102N17Rik, KMT1D |
| MMRRC Submission |
039740-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1707 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24680781-24809658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24695150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 989
(M989V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046227]
[ENSMUST00000046227]
[ENSMUST00000091348]
[ENSMUST00000091348]
[ENSMUST00000102938]
[ENSMUST00000102938]
[ENSMUST00000114418]
[ENSMUST00000114418]
[ENSMUST00000114432]
[ENSMUST00000114432]
[ENSMUST00000147147]
[ENSMUST00000152636]
|
| AlphaFold |
Q5DW34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046227
AA Change: M941V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046077
Gene: ENSMUSG00000036893
AA Change: M941V
| 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: ENSMUST00000046227
AA Change: M941V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046077
Gene: ENSMUSG00000036893
AA Change: M941V
| 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: M981V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088906
Gene: ENSMUSG00000036893
AA Change: M981V
| 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: ENSMUST00000091348
AA Change: M981V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088906
Gene: ENSMUSG00000036893
AA Change: M981V
| 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: M982V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100002
Gene: ENSMUSG00000036893
AA Change: M982V
| 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: ENSMUST00000102938
AA Change: M982V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100002
Gene: ENSMUSG00000036893
AA Change: M982V
| 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: M941V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110061
Gene: ENSMUSG00000036893
AA Change: M941V
| 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: ENSMUST00000114418
AA Change: M941V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110061
Gene: ENSMUSG00000036893
AA Change: M941V
| 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: M936V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110075
Gene: ENSMUSG00000036893
AA Change: M936V
| 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 benign
Transcript: ENSMUST00000114432
AA Change: M936V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110075
Gene: ENSMUSG00000036893
AA Change: M936V
| 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 |
unknown
Transcript: ENSMUST00000134775
AA Change: M82V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138805
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147147
AA Change: M989V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119057
Gene: ENSMUSG00000036893
AA Change: M989V
| 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 |
noncoding transcript
Transcript: ENSMUST00000144672
|
| 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 |
|
| Meta Mutation Damage Score |
0.0593 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
96% (82/85) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
T |
1: 159,898,372 (GRCm39) |
|
probably benign |
Het |
| 4931429P17Rik |
A |
G |
13: 48,114,481 (GRCm39) |
|
noncoding transcript |
Het |
| Acox3 |
T |
A |
5: 35,758,908 (GRCm39) |
I373N |
possibly damaging |
Het |
| Adgrb1 |
G |
T |
15: 74,401,192 (GRCm39) |
A63S |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Aplp2 |
A |
T |
9: 31,062,215 (GRCm39) |
H692Q |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,039,953 (GRCm39) |
S297P |
probably benign |
Het |
| Arhgap9 |
C |
T |
10: 127,164,758 (GRCm39) |
P561S |
probably benign |
Het |
| Arhgef10l |
T |
G |
4: 140,291,600 (GRCm39) |
D62A |
probably damaging |
Het |
| Asb14 |
T |
G |
14: 26,623,079 (GRCm39) |
F150L |
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,357,635 (GRCm39) |
|
probably null |
Het |
| Atrnl1 |
A |
G |
19: 57,675,169 (GRCm39) |
D686G |
probably benign |
Het |
| Bmpr1a |
A |
T |
14: 34,147,098 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
T |
A |
5: 43,881,030 (GRCm39) |
|
probably null |
Het |
| Ccin |
T |
A |
4: 43,983,947 (GRCm39) |
I118N |
probably benign |
Het |
| Cd8b1 |
G |
A |
6: 71,303,168 (GRCm39) |
G81D |
probably damaging |
Het |
| Cep126 |
G |
A |
9: 8,100,383 (GRCm39) |
S717L |
probably benign |
Het |
| Cip2a |
A |
C |
16: 48,838,767 (GRCm39) |
Q861H |
probably damaging |
Het |
| Colgalt2 |
C |
T |
1: 152,276,114 (GRCm39) |
R76W |
probably damaging |
Het |
| Copg1 |
A |
T |
6: 87,882,192 (GRCm39) |
T596S |
probably benign |
Het |
| Cpb1 |
G |
A |
3: 20,329,655 (GRCm39) |
R24W |
probably damaging |
Het |
| Csad |
T |
A |
15: 102,088,407 (GRCm39) |
D134V |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,034,912 (GRCm39) |
|
probably benign |
Het |
| Ddb2 |
A |
G |
2: 91,064,554 (GRCm39) |
W119R |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,582,655 (GRCm39) |
S317T |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,404,763 (GRCm39) |
V342A |
probably benign |
Het |
| Dpp4 |
G |
A |
2: 62,189,679 (GRCm39) |
|
probably benign |
Het |
| Dst |
G |
T |
1: 34,206,727 (GRCm39) |
W1005L |
probably damaging |
Het |
| Entr1 |
T |
A |
2: 26,277,618 (GRCm39) |
N69Y |
probably damaging |
Het |
| Gm5422 |
G |
A |
10: 31,124,458 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9944 |
A |
G |
4: 144,179,833 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,245,829 (GRCm39) |
Y696H |
probably damaging |
Het |
| H2-M11 |
T |
G |
17: 36,859,658 (GRCm39) |
V217G |
probably damaging |
Het |
| Hunk |
C |
T |
16: 90,183,295 (GRCm39) |
|
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,285,799 (GRCm39) |
|
probably null |
Het |
| Ints11 |
T |
G |
4: 155,959,655 (GRCm39) |
D87E |
probably benign |
Het |
| Intu |
T |
A |
3: 40,595,073 (GRCm39) |
S21T |
probably benign |
Het |
| Intu |
C |
A |
3: 40,637,931 (GRCm39) |
D472E |
possibly damaging |
Het |
| Kbtbd3 |
T |
A |
9: 4,316,985 (GRCm39) |
N45K |
probably benign |
Het |
| Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
| Klrg2 |
C |
G |
6: 38,613,729 (GRCm39) |
E91D |
possibly damaging |
Het |
| Lamc3 |
T |
C |
2: 31,802,141 (GRCm39) |
|
probably null |
Het |
| Magi2 |
T |
G |
5: 20,420,491 (GRCm39) |
M309R |
probably damaging |
Het |
| Magohb |
G |
A |
6: 131,261,600 (GRCm39) |
P147S |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,693,504 (GRCm39) |
D1043G |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,454,095 (GRCm39) |
D203G |
probably damaging |
Het |
| Mvp |
C |
T |
7: 126,600,744 (GRCm39) |
V86I |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,379,363 (GRCm39) |
F226I |
probably damaging |
Het |
| Nasp |
T |
A |
4: 116,476,133 (GRCm39) |
Q51L |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,426,430 (GRCm39) |
F1594I |
probably damaging |
Het |
| Nod2 |
A |
C |
8: 89,397,104 (GRCm39) |
E816A |
possibly damaging |
Het |
| Nom1 |
G |
A |
5: 29,640,316 (GRCm39) |
S214N |
probably damaging |
Het |
| Or2l13b |
T |
C |
16: 19,348,927 (GRCm39) |
T248A |
probably benign |
Het |
| Or8c9 |
T |
A |
9: 38,241,197 (GRCm39) |
F105I |
probably damaging |
Het |
| Parp14 |
A |
C |
16: 35,678,219 (GRCm39) |
L583R |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,763,238 (GRCm39) |
S3904P |
unknown |
Het |
| Pkhd1 |
T |
A |
1: 20,621,064 (GRCm39) |
|
probably benign |
Het |
| Plaat1 |
A |
G |
16: 29,046,978 (GRCm39) |
K166E |
probably damaging |
Het |
| Polr1e |
A |
C |
4: 45,027,469 (GRCm39) |
D233A |
probably damaging |
Het |
| Prr29 |
T |
C |
11: 106,267,509 (GRCm39) |
V124A |
probably damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,129,028 (GRCm39) |
V197E |
probably damaging |
Het |
| Rgma |
A |
T |
7: 73,067,707 (GRCm39) |
T415S |
unknown |
Het |
| Sacs |
G |
T |
14: 61,447,211 (GRCm39) |
V3086L |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,606,141 (GRCm39) |
S750P |
probably benign |
Het |
| Scpppq1 |
T |
A |
5: 104,222,099 (GRCm39) |
|
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,416,512 (GRCm39) |
S372T |
probably benign |
Het |
| Sis |
A |
G |
3: 72,816,420 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
T |
A |
4: 111,796,769 (GRCm39) |
V291D |
probably damaging |
Het |
| Slc12a8 |
A |
G |
16: 33,371,377 (GRCm39) |
N171S |
probably damaging |
Het |
| Slc25a40 |
G |
A |
5: 8,490,793 (GRCm39) |
|
probably null |
Het |
| Spag6l |
A |
T |
16: 16,598,492 (GRCm39) |
I333N |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,454,811 (GRCm39) |
F2999L |
probably damaging |
Het |
| Stambpl1 |
A |
C |
19: 34,216,221 (GRCm39) |
T363P |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,537,892 (GRCm39) |
N1785Y |
probably damaging |
Het |
| Tln2 |
C |
T |
9: 67,283,089 (GRCm39) |
S293N |
probably benign |
Het |
| Tmed3 |
G |
A |
9: 89,584,833 (GRCm39) |
L141F |
probably damaging |
Het |
| Tmem30c |
G |
T |
16: 57,086,843 (GRCm39) |
T320K |
possibly damaging |
Het |
| Tnn |
T |
C |
1: 159,972,714 (GRCm39) |
Y296C |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,620,430 (GRCm39) |
A15802T |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,741,049 (GRCm39) |
M734V |
probably benign |
Het |
| Vmn1r24 |
A |
G |
6: 57,933,497 (GRCm39) |
I7T |
probably benign |
Het |
| Vmn1r74 |
T |
A |
7: 11,581,504 (GRCm39) |
V268E |
probably damaging |
Het |
| Xirp1 |
A |
T |
9: 119,847,841 (GRCm39) |
H347Q |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTGCCTCATGGAAGACAGACAC -3'
(R):5'- GCTCCTGGCAAGACATGCTTGTTC -3'
Sequencing Primer
(F):5'- CCTGCCAATGGTTTGCTAGA -3'
(R):5'- AGACATGCTTGTTCCAGAGTCAC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation