Incidental Mutation 'R4924:Ehmt1'
| ID |
378840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehmt1
|
| Ensembl Gene |
ENSMUSG00000036893 |
| Gene Name |
euchromatic histone methyltransferase 1 |
| Synonyms |
9230102N17Rik, KMT1D |
| MMRRC Submission |
042526-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4924 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
24680781-24809658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24729734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 601
(I601N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046227]
[ENSMUST00000091348]
[ENSMUST00000102938]
[ENSMUST00000114418]
[ENSMUST00000114432]
[ENSMUST00000147147]
[ENSMUST00000152636]
[ENSMUST00000200655]
|
| AlphaFold |
Q5DW34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046227
AA Change: I561N
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000046077
Gene: ENSMUSG00000036893
AA Change: I561N
| 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 damaging
Transcript: ENSMUST00000091348
AA Change: I601N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088906
Gene: ENSMUSG00000036893
AA Change: I601N
| 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 |
possibly damaging
Transcript: ENSMUST00000102938
AA Change: I602N
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000100002
Gene: ENSMUSG00000036893
AA Change: I602N
| 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: I561N
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000110061
Gene: ENSMUSG00000036893
AA Change: I561N
| 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: ENSMUST00000114432
AA Change: I556N
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110075
Gene: ENSMUSG00000036893
AA Change: I556N
| 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: I609N
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119057
Gene: ENSMUSG00000036893
AA Change: I609N
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150836
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200655
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
G |
A |
11: 119,902,351 (GRCm39) |
H625Y |
probably damaging |
Het |
| Adamts4 |
C |
T |
1: 171,086,643 (GRCm39) |
R812W |
probably damaging |
Het |
| Ajuba |
A |
C |
14: 54,809,056 (GRCm39) |
|
probably null |
Het |
| Aox1 |
T |
A |
1: 58,344,503 (GRCm39) |
V532D |
probably damaging |
Het |
| Arpc1b |
G |
A |
5: 145,063,625 (GRCm39) |
S295N |
probably benign |
Het |
| Baiap2 |
A |
G |
11: 119,887,850 (GRCm39) |
S335G |
probably damaging |
Het |
| Brap |
T |
G |
5: 121,803,318 (GRCm39) |
N155K |
probably damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,648,396 (GRCm39) |
|
probably benign |
Het |
| Ccl12 |
G |
A |
11: 81,993,475 (GRCm39) |
V38I |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,602,146 (GRCm39) |
Y881C |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 90,989,174 (GRCm39) |
|
silent |
Het |
| Chd5 |
A |
C |
4: 152,450,886 (GRCm39) |
D670A |
possibly damaging |
Het |
| Cmip |
T |
C |
8: 117,983,994 (GRCm39) |
Y52H |
probably benign |
Het |
| Dmtn |
A |
G |
14: 70,855,399 (GRCm39) |
I30T |
probably benign |
Het |
| Dscaml1 |
T |
A |
9: 45,656,487 (GRCm39) |
M1609K |
probably damaging |
Het |
| Edar |
C |
A |
10: 58,465,197 (GRCm39) |
E55D |
probably damaging |
Het |
| Fam120a |
A |
T |
13: 49,055,572 (GRCm39) |
N705K |
probably benign |
Het |
| Gm21718 |
G |
T |
14: 51,550,292 (GRCm39) |
|
noncoding transcript |
Het |
| Gnaz |
A |
G |
10: 74,827,545 (GRCm39) |
D99G |
probably benign |
Het |
| Helz |
G |
A |
11: 107,493,165 (GRCm39) |
G196D |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,986,331 (GRCm39) |
S341P |
probably damaging |
Het |
| Hivep1 |
G |
T |
13: 42,311,792 (GRCm39) |
S1344I |
probably benign |
Het |
| Hspa1l |
T |
A |
17: 35,196,832 (GRCm39) |
Y290* |
probably null |
Het |
| Ift81 |
A |
G |
5: 122,732,679 (GRCm39) |
L285S |
possibly damaging |
Het |
| Inpp4b |
T |
A |
8: 82,849,253 (GRCm39) |
N891K |
probably damaging |
Het |
| Irx6 |
C |
T |
8: 93,404,981 (GRCm39) |
T283M |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,559,089 (GRCm39) |
K1538E |
probably benign |
Het |
| Kif13a |
A |
G |
13: 47,083,075 (GRCm39) |
V8A |
probably damaging |
Het |
| Krtap15-1 |
T |
A |
16: 88,626,036 (GRCm39) |
N34K |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 27,245,137 (GRCm39) |
I215L |
probably damaging |
Het |
| Ldlrad3 |
C |
T |
2: 101,900,328 (GRCm39) |
R58H |
possibly damaging |
Het |
| Lvrn |
C |
T |
18: 47,027,792 (GRCm39) |
P869L |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,565,504 (GRCm39) |
F411S |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,828,455 (GRCm39) |
H702Q |
probably benign |
Het |
| Nat8f4 |
G |
T |
6: 85,878,401 (GRCm39) |
Q41K |
probably benign |
Het |
| Nckap5 |
C |
A |
1: 125,954,765 (GRCm39) |
E596* |
probably null |
Het |
| Nek10 |
T |
A |
14: 14,846,594 (GRCm38) |
|
probably null |
Het |
| Notch3 |
T |
C |
17: 32,363,705 (GRCm39) |
Y1145C |
probably damaging |
Het |
| Nr4a2 |
A |
T |
2: 57,002,035 (GRCm39) |
H76Q |
probably benign |
Het |
| Nup98 |
T |
C |
7: 101,784,185 (GRCm39) |
Q1049R |
probably damaging |
Het |
| Or4k48 |
A |
T |
2: 111,476,121 (GRCm39) |
S74T |
possibly damaging |
Het |
| Or5k1b |
T |
A |
16: 58,580,982 (GRCm39) |
R186* |
probably null |
Het |
| Or8k33 |
A |
T |
2: 86,383,853 (GRCm39) |
F205Y |
probably damaging |
Het |
| Pepd |
T |
C |
7: 34,720,409 (GRCm39) |
Y231H |
probably benign |
Het |
| Plagl1 |
G |
T |
10: 13,003,301 (GRCm39) |
A190S |
possibly damaging |
Het |
| Plat |
T |
A |
8: 23,268,269 (GRCm39) |
I345N |
probably damaging |
Het |
| Pnmt |
A |
G |
11: 98,278,286 (GRCm39) |
E120G |
probably damaging |
Het |
| Prkrip1 |
C |
A |
5: 136,227,797 (GRCm39) |
|
probably null |
Het |
| Pygm |
G |
A |
19: 6,443,754 (GRCm39) |
A572T |
probably damaging |
Het |
| Rbm4b |
T |
C |
19: 4,807,400 (GRCm39) |
F39L |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,328,268 (GRCm39) |
H388R |
probably benign |
Het |
| Scn4a |
G |
T |
11: 106,210,914 (GRCm39) |
A1701E |
possibly damaging |
Het |
| Sdk2 |
C |
A |
11: 113,748,584 (GRCm39) |
W616L |
probably damaging |
Het |
| Serpina3m |
T |
A |
12: 104,357,729 (GRCm39) |
S218T |
probably benign |
Het |
| Siglece |
C |
T |
7: 43,309,297 (GRCm39) |
R87H |
probably damaging |
Het |
| Sim1 |
C |
A |
10: 50,785,998 (GRCm39) |
L284M |
probably damaging |
Het |
| Smok3c |
G |
T |
5: 138,063,844 (GRCm39) |
E444* |
probably null |
Het |
| Snx4 |
T |
C |
16: 33,115,100 (GRCm39) |
V427A |
probably benign |
Het |
| Srp68 |
A |
T |
11: 116,151,684 (GRCm39) |
V304E |
probably damaging |
Het |
| Stag1 |
A |
T |
9: 100,678,808 (GRCm39) |
H243L |
possibly damaging |
Het |
| Stx6 |
T |
C |
1: 155,049,737 (GRCm39) |
V14A |
probably damaging |
Het |
| Sv2b |
T |
A |
7: 74,786,169 (GRCm39) |
Y417F |
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,161 (GRCm39) |
Y302H |
probably benign |
Het |
| Thop1 |
T |
C |
10: 80,916,028 (GRCm39) |
S404P |
probably benign |
Het |
| Trp53bp1 |
G |
T |
2: 121,051,701 (GRCm39) |
C988* |
probably null |
Het |
| Tsbp1 |
C |
T |
17: 34,678,951 (GRCm39) |
P221L |
probably damaging |
Het |
| Ube3c |
A |
G |
5: 29,836,269 (GRCm39) |
E630G |
possibly damaging |
Het |
| Usf3 |
T |
C |
16: 44,037,718 (GRCm39) |
S733P |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,189 (GRCm39) |
T220A |
probably benign |
Het |
| Vmn1r201 |
A |
T |
13: 22,658,882 (GRCm39) |
H32L |
probably benign |
Het |
| Wnt2 |
A |
G |
6: 18,023,239 (GRCm39) |
C137R |
probably damaging |
Het |
| Ythdc2 |
T |
C |
18: 44,980,871 (GRCm39) |
S489P |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,406,033 (GRCm39) |
C418R |
probably damaging |
Het |
| Zfp946 |
T |
G |
17: 22,674,502 (GRCm39) |
F419V |
probably damaging |
Het |
| Zfp994 |
C |
T |
17: 22,419,738 (GRCm39) |
E404K |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,061,347 (GRCm39) |
V304A |
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 |
|
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'- GGCCACAGCTACTTTGCTTAG -3'
(R):5'- TGGCCTCTGCTTACATTGTG -3'
Sequencing Primer
(F):5'- TTAGTACCTGCCCGTGGTCG -3'
(R):5'- CATTGTGAGCTCTTTGTAAACTCAG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation