Incidental Mutation 'R5134:Ehmt1'
| ID |
396002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehmt1
|
| Ensembl Gene |
ENSMUSG00000036893 |
| Gene Name |
euchromatic histone methyltransferase 1 |
| Synonyms |
9230102N17Rik, KMT1D |
| MMRRC Submission |
042722-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5134 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24680781-24809658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24767509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 135
(P135T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046227]
[ENSMUST00000091348]
[ENSMUST00000102938]
[ENSMUST00000114418]
[ENSMUST00000114432]
[ENSMUST00000147147]
[ENSMUST00000150379]
[ENSMUST00000152161]
[ENSMUST00000198923]
[ENSMUST00000200655]
|
| AlphaFold |
Q5DW34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046227
AA Change: P259T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046077
Gene: ENSMUSG00000036893
AA Change: P259T
| 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: P258T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088906
Gene: ENSMUSG00000036893
AA Change: P258T
| 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 damaging
Transcript: ENSMUST00000102938
AA Change: P259T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100002
Gene: ENSMUSG00000036893
AA Change: P259T
| 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 damaging
Transcript: ENSMUST00000114418
AA Change: P259T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110061
Gene: ENSMUSG00000036893
AA Change: P259T
| 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: ENSMUST00000114432
AA Change: P259T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110075
Gene: ENSMUSG00000036893
AA Change: P259T
| 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 |
probably damaging
Transcript: ENSMUST00000147147
AA Change: P259T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119057
Gene: ENSMUSG00000036893
AA Change: P259T
| 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 damaging
Transcript: ENSMUST00000150379
AA Change: P261T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152161
AA Change: P258T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119854
Gene: ENSMUSG00000036893
AA Change: P258T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
339 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198923
AA Change: P135T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143189
Gene: ENSMUSG00000036893
AA Change: P135T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
208 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152325
AA Change: P7T
|
| SMART Domains |
Protein: ENSMUSP00000123387
Gene: ENSMUSG00000036893
AA Change: P7T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192397
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200655
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
96% (100/104) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
T |
A |
10: 77,161,679 (GRCm39) |
|
probably benign |
Het |
| Adrb3 |
A |
C |
8: 27,717,798 (GRCm39) |
M217R |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,757,094 (GRCm39) |
N1054K |
possibly damaging |
Het |
| Aox4 |
A |
T |
1: 58,275,835 (GRCm39) |
D389V |
probably benign |
Het |
| Aph1a |
G |
T |
3: 95,802,843 (GRCm39) |
G148W |
probably damaging |
Het |
| Arsj |
A |
G |
3: 126,231,803 (GRCm39) |
D183G |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,641,209 (GRCm39) |
S76P |
probably damaging |
Het |
| Atxn7l1 |
C |
A |
12: 33,422,875 (GRCm39) |
N815K |
probably damaging |
Het |
| Cd3d |
A |
T |
9: 44,896,296 (GRCm39) |
E28D |
probably damaging |
Het |
| Cir1 |
G |
A |
2: 73,114,847 (GRCm39) |
R404* |
probably null |
Het |
| Cops8 |
A |
G |
1: 90,538,724 (GRCm39) |
D51G |
probably damaging |
Het |
| Csgalnact1 |
T |
C |
8: 68,913,623 (GRCm39) |
E194G |
probably benign |
Het |
| Cstf2t |
T |
A |
19: 31,061,494 (GRCm39) |
D343E |
probably damaging |
Het |
| Ddx23 |
A |
T |
15: 98,548,651 (GRCm39) |
D352E |
possibly damaging |
Het |
| Dhx34 |
G |
T |
7: 15,952,175 (GRCm39) |
A150D |
possibly damaging |
Het |
| Dnal4 |
A |
T |
15: 79,647,766 (GRCm39) |
V32E |
possibly damaging |
Het |
| Dvl3 |
G |
T |
16: 20,343,357 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
C |
T |
15: 54,762,726 (GRCm39) |
R174H |
probably damaging |
Het |
| Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
| F10 |
T |
C |
8: 13,105,698 (GRCm39) |
V421A |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fer1l6 |
A |
T |
15: 58,512,003 (GRCm39) |
D1490V |
probably damaging |
Het |
| Fsd1l |
A |
G |
4: 53,647,766 (GRCm39) |
K70E |
probably benign |
Het |
| Galnt12 |
G |
A |
4: 47,113,818 (GRCm39) |
A79T |
probably damaging |
Het |
| Galnt17 |
A |
T |
5: 130,992,873 (GRCm39) |
M347K |
probably damaging |
Het |
| Glyatl3 |
A |
G |
17: 41,215,921 (GRCm39) |
V195A |
probably benign |
Het |
| Gm10770 |
A |
T |
2: 150,021,480 (GRCm39) |
|
probably null |
Het |
| Gm5578 |
A |
T |
6: 112,583,046 (GRCm39) |
|
noncoding transcript |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Gsk3b |
G |
A |
16: 38,060,882 (GRCm39) |
R418H |
probably damaging |
Het |
| Hspa12b |
A |
G |
2: 130,981,428 (GRCm39) |
E221G |
possibly damaging |
Het |
| Ighv1-50 |
T |
G |
12: 115,083,653 (GRCm39) |
Q22H |
probably benign |
Het |
| Ipcef1 |
A |
G |
10: 6,869,950 (GRCm39) |
I150T |
probably benign |
Het |
| Ipp |
T |
A |
4: 116,372,654 (GRCm39) |
F228I |
possibly damaging |
Het |
| Itgb7 |
A |
G |
15: 102,125,842 (GRCm39) |
C596R |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,438,904 (GRCm39) |
D1219G |
possibly damaging |
Het |
| Lats1 |
T |
A |
10: 7,567,575 (GRCm39) |
D115E |
probably benign |
Het |
| Lpcat3 |
A |
G |
6: 124,679,493 (GRCm39) |
N331S |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,058,684 (GRCm39) |
N725K |
probably benign |
Het |
| Lss |
T |
G |
10: 76,382,070 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
T |
C |
1: 52,747,515 (GRCm39) |
Y450C |
possibly damaging |
Het |
| Mmp21 |
A |
T |
7: 133,280,742 (GRCm39) |
V76E |
probably benign |
Het |
| Mtmr11 |
A |
T |
3: 96,077,223 (GRCm39) |
Y527F |
probably damaging |
Het |
| Nat10 |
A |
T |
2: 103,573,638 (GRCm39) |
F327I |
probably benign |
Het |
| Nfkbiz |
A |
T |
16: 55,638,863 (GRCm39) |
M199K |
probably damaging |
Het |
| Nuak1 |
A |
G |
10: 84,210,214 (GRCm39) |
Y625H |
probably benign |
Het |
| Odf1 |
A |
G |
15: 38,226,393 (GRCm39) |
T98A |
possibly damaging |
Het |
| Oprl1 |
T |
A |
2: 181,360,403 (GRCm39) |
I153N |
probably damaging |
Het |
| Or10g3b |
T |
C |
14: 52,587,248 (GRCm39) |
N85S |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,488 (GRCm39) |
L143F |
probably benign |
Het |
| Or4x13 |
T |
A |
2: 90,231,107 (GRCm39) |
M34K |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,124,554 (GRCm39) |
D705E |
probably benign |
Het |
| Otud4 |
G |
A |
8: 80,382,318 (GRCm39) |
V176I |
probably damaging |
Het |
| Paics |
T |
C |
5: 77,104,669 (GRCm39) |
|
probably benign |
Het |
| Pax5 |
A |
G |
4: 44,710,407 (GRCm39) |
M1T |
probably null |
Het |
| Pck1 |
A |
T |
2: 172,995,282 (GRCm39) |
N34I |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,223,250 (GRCm39) |
I335V |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,207,691 (GRCm39) |
V1440A |
probably damaging |
Het |
| Prr23a4 |
T |
C |
9: 98,785,793 (GRCm39) |
S153P |
probably benign |
Het |
| Ptpre |
T |
A |
7: 135,253,821 (GRCm39) |
F83Y |
probably damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,068,702 (GRCm39) |
L282P |
probably benign |
Het |
| Rassf6 |
T |
A |
5: 90,752,225 (GRCm39) |
|
probably null |
Het |
| Rilp |
A |
T |
11: 75,403,534 (GRCm39) |
L325F |
probably damaging |
Het |
| Rpf1 |
A |
G |
3: 146,212,293 (GRCm39) |
L349S |
probably damaging |
Het |
| Rprd2 |
G |
C |
3: 95,672,632 (GRCm39) |
R924G |
probably benign |
Het |
| Rps6kc1 |
T |
A |
1: 190,505,845 (GRCm39) |
D1039V |
probably damaging |
Het |
| Rufy3 |
G |
A |
5: 88,793,426 (GRCm39) |
V579I |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,825,140 (GRCm39) |
|
probably null |
Het |
| Siae |
T |
G |
9: 37,557,816 (GRCm39) |
I541S |
possibly damaging |
Het |
| St14 |
T |
G |
9: 31,006,879 (GRCm39) |
D649A |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,707,674 (GRCm39) |
|
probably null |
Het |
| Sun3 |
T |
C |
11: 8,988,287 (GRCm39) |
T12A |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,937,101 (GRCm39) |
Y1316H |
probably damaging |
Het |
| Thbs3 |
CAGAAG |
CAG |
3: 89,130,409 (GRCm39) |
|
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,442,887 (GRCm39) |
T269K |
possibly damaging |
Het |
| Trav14-3 |
T |
A |
14: 54,000,701 (GRCm39) |
S17T |
unknown |
Het |
| Trmu |
T |
A |
15: 85,780,556 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,537,586 (GRCm39) |
T26454S |
possibly damaging |
Het |
| Ubr3 |
T |
C |
2: 69,850,790 (GRCm39) |
|
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,610,879 (GRCm39) |
V376E |
probably benign |
Het |
| Usp3 |
T |
C |
9: 66,449,814 (GRCm39) |
S166G |
possibly damaging |
Het |
| Vldlr |
C |
A |
19: 27,216,212 (GRCm39) |
C344* |
probably null |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 102,091,969 (GRCm39) |
Y457D |
probably damaging |
Het |
| Zbtb2 |
T |
C |
10: 4,319,267 (GRCm39) |
Y253C |
possibly damaging |
Het |
| Zfp687 |
A |
C |
3: 94,917,697 (GRCm39) |
F692V |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,594,386 (GRCm39) |
K291E |
probably damaging |
Het |
| Zfp799 |
A |
T |
17: 33,039,415 (GRCm39) |
C284S |
probably damaging |
Het |
| Zp1 |
C |
A |
19: 10,897,926 (GRCm39) |
C5F |
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 |
|
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 |
|
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'- TCAGGAGAACAAAATCAGTGCC -3'
(R):5'- GGATGCGCTTTATTCCATTCAC -3'
Sequencing Primer
(F):5'- TCAGTGCCATAAAGTCTTAAGGGC -3'
(R):5'- ACCATCTACTTCTGCAGTCATC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation