Incidental Mutation 'R7418:Ehmt1'
| ID |
575428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehmt1
|
| Ensembl Gene |
ENSMUSG00000036893 |
| Gene Name |
euchromatic histone methyltransferase 1 |
| Synonyms |
9230102N17Rik, KMT1D |
| MMRRC Submission |
045496-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7418 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24680781-24809658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24774646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 53
(G53R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046227]
[ENSMUST00000091348]
[ENSMUST00000102938]
[ENSMUST00000114418]
[ENSMUST00000114432]
[ENSMUST00000147147]
[ENSMUST00000150379]
[ENSMUST00000152161]
[ENSMUST00000198923]
[ENSMUST00000200655]
|
| AlphaFold |
Q5DW34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046227
AA Change: G53R
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000046077
Gene: ENSMUSG00000036893
AA Change: G53R
| 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: G52R
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000088906
Gene: ENSMUSG00000036893
AA Change: G52R
| 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: G53R
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000100002
Gene: ENSMUSG00000036893
AA Change: G53R
| 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: G53R
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000110061
Gene: ENSMUSG00000036893
AA Change: G53R
| 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: G53R
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000110075
Gene: ENSMUSG00000036893
AA Change: G53R
| 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: ENSMUST00000147147
AA Change: G53R
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000119057
Gene: ENSMUSG00000036893
AA Change: G53R
| 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: ENSMUST00000150379
AA Change: G55R
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152161
AA Change: G52R
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119854
Gene: ENSMUSG00000036893
AA Change: G52R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
339 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198923
|
| SMART Domains |
Protein: ENSMUSP00000143189
Gene: ENSMUSG00000036893
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
208 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000200655
AA Change: M30I
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (66/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apaf1 |
T |
G |
10: 90,859,697 (GRCm39) |
H827P |
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,365,926 (GRCm39) |
L308Q |
probably damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,904,616 (GRCm39) |
L404P |
probably damaging |
Het |
| Cdh13 |
G |
A |
8: 120,039,264 (GRCm39) |
G569R |
probably damaging |
Het |
| Clec14a |
G |
A |
12: 58,315,433 (GRCm39) |
T63I |
probably damaging |
Het |
| Cngb1 |
G |
T |
8: 96,004,887 (GRCm39) |
S487* |
probably null |
Het |
| Cog5 |
A |
T |
12: 31,883,240 (GRCm39) |
N390Y |
probably damaging |
Het |
| Col6a4 |
C |
T |
9: 105,900,114 (GRCm39) |
G1670S |
probably damaging |
Het |
| Daxx |
T |
A |
17: 34,129,579 (GRCm39) |
D53E |
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,444,307 (GRCm39) |
T539I |
possibly damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,965,622 (GRCm39) |
|
probably null |
Het |
| Eif2b1 |
T |
A |
5: 124,714,893 (GRCm39) |
N113Y |
probably benign |
Het |
| Eya3 |
A |
G |
4: 132,408,159 (GRCm39) |
T152A |
possibly damaging |
Het |
| Fam234b |
G |
A |
6: 135,194,009 (GRCm39) |
V221M |
probably benign |
Het |
| Fbxl13 |
T |
A |
5: 21,786,981 (GRCm39) |
T319S |
probably benign |
Het |
| Fchsd2 |
G |
T |
7: 100,920,831 (GRCm39) |
V479F |
possibly damaging |
Het |
| Fgd5 |
T |
C |
6: 92,001,519 (GRCm39) |
S905P |
probably benign |
Het |
| Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
| Fxn |
C |
T |
19: 24,257,860 (GRCm39) |
V24I |
probably benign |
Het |
| Gapvd1 |
C |
T |
2: 34,615,130 (GRCm39) |
D456N |
probably benign |
Het |
| Gm128 |
C |
T |
3: 95,147,878 (GRCm39) |
V139M |
possibly damaging |
Het |
| Gm973 |
A |
G |
1: 59,565,972 (GRCm39) |
T64A |
probably damaging |
Het |
| Gtf2h5 |
T |
A |
17: 6,134,903 (GRCm39) |
N64K |
probably damaging |
Het |
| H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
| Haus6 |
A |
G |
4: 86,513,010 (GRCm39) |
S386P |
possibly damaging |
Het |
| Hsh2d |
A |
G |
8: 72,950,638 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
C |
5: 34,947,697 (GRCm39) |
M125T |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,635,933 (GRCm39) |
|
probably null |
Het |
| Ints4 |
G |
A |
7: 97,140,179 (GRCm39) |
A137T |
probably benign |
Het |
| Isl2 |
A |
G |
9: 55,451,636 (GRCm39) |
D263G |
probably benign |
Het |
| Itgb5 |
T |
G |
16: 33,705,464 (GRCm39) |
D251E |
probably damaging |
Het |
| Jpt1 |
A |
T |
11: 115,389,095 (GRCm39) |
L116Q |
probably damaging |
Het |
| Kansl2 |
A |
G |
15: 98,429,775 (GRCm39) |
S86P |
possibly damaging |
Het |
| Kat2b |
G |
T |
17: 53,917,953 (GRCm39) |
R104I |
possibly damaging |
Het |
| Kcna10 |
C |
A |
3: 107,102,362 (GRCm39) |
A331D |
probably benign |
Het |
| Kcnk3 |
G |
A |
5: 30,779,675 (GRCm39) |
V242M |
possibly damaging |
Het |
| Kdm4a |
A |
G |
4: 118,017,440 (GRCm39) |
L542P |
probably damaging |
Het |
| Kif20b |
T |
C |
19: 34,907,087 (GRCm39) |
F119L |
probably damaging |
Het |
| Krtcap3 |
A |
T |
5: 31,409,881 (GRCm39) |
H149L |
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,586,005 (GRCm39) |
V102A |
probably damaging |
Het |
| Luc7l |
T |
A |
17: 26,472,156 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
G |
T |
16: 48,975,900 (GRCm39) |
A1323S |
possibly damaging |
Het |
| Myl1 |
T |
A |
1: 66,965,338 (GRCm39) |
R151S |
unknown |
Het |
| Naif1 |
A |
G |
2: 32,342,583 (GRCm39) |
S45G |
probably benign |
Het |
| Ndst4 |
C |
T |
3: 125,501,800 (GRCm39) |
T121I |
probably damaging |
Het |
| Neurod6 |
C |
T |
6: 55,656,283 (GRCm39) |
R118Q |
probably damaging |
Het |
| Npl |
A |
T |
1: 153,413,257 (GRCm39) |
|
probably null |
Het |
| Nr4a3 |
T |
C |
4: 48,051,476 (GRCm39) |
Y77H |
probably damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,320 (GRCm39) |
C125* |
probably null |
Het |
| Or4b1 |
T |
G |
2: 89,979,831 (GRCm39) |
D173A |
probably damaging |
Het |
| Pex11a |
G |
A |
7: 79,392,735 (GRCm39) |
|
probably benign |
Het |
| Rab44 |
T |
A |
17: 29,359,470 (GRCm39) |
F553I |
unknown |
Het |
| Sbf2 |
C |
T |
7: 109,965,028 (GRCm39) |
R1002H |
probably damaging |
Het |
| Sectm1a |
C |
A |
11: 120,960,119 (GRCm39) |
|
probably null |
Het |
| Slit3 |
G |
A |
11: 35,577,255 (GRCm39) |
V1163M |
possibly damaging |
Het |
| Sphk2 |
G |
A |
7: 45,361,180 (GRCm39) |
R275C |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,415,466 (GRCm39) |
S96G |
probably benign |
Het |
| Tg |
A |
G |
15: 66,568,432 (GRCm39) |
E1373G |
probably damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,435,458 (GRCm39) |
|
probably null |
Het |
| Trp53 |
T |
C |
11: 69,479,214 (GRCm39) |
F131L |
probably damaging |
Het |
| Ttc21a |
A |
T |
9: 119,788,117 (GRCm39) |
E847D |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,602,791 (GRCm39) |
F18477S |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 76,910,730 (GRCm39) |
R929* |
probably null |
Het |
| Usp49 |
G |
T |
17: 47,983,093 (GRCm39) |
E33* |
probably null |
Het |
| Vmn1r63 |
A |
G |
7: 5,806,554 (GRCm39) |
V26A |
possibly damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,081 (GRCm39) |
Y127F |
possibly damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,105,366 (GRCm39) |
V154I |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,220,960 (GRCm39) |
S590P |
possibly damaging |
Het |
| Zkscan4 |
A |
G |
13: 21,668,799 (GRCm39) |
K446E |
probably 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 |
|
|
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'- AATGTTGGGAGTCCTCAACG -3'
(R):5'- AACTGTAGATGGCTCTATGTGTGC -3'
Sequencing Primer
(F):5'- TGCTGCCAATGACAGATGTC -3'
(R):5'- TCTATGTGTGCCAGCCAAAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation