Incidental Mutation 'R7916:Ehmt1'
| ID |
648058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehmt1
|
| Ensembl Gene |
ENSMUSG00000036893 |
| Gene Name |
euchromatic histone methyltransferase 1 |
| Synonyms |
9230102N17Rik, KMT1D |
| MMRRC Submission |
045964-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7916 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
24680781-24809658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24746708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 425
(L425F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046227]
[ENSMUST00000091348]
[ENSMUST00000102938]
[ENSMUST00000114418]
[ENSMUST00000114432]
[ENSMUST00000147147]
[ENSMUST00000200655]
|
| AlphaFold |
Q5DW34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046227
AA Change: L425F
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046077
Gene: ENSMUSG00000036893
AA Change: L425F
| 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: L417F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088906
Gene: ENSMUSG00000036893
AA Change: L417F
| 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: L418F
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100002
Gene: ENSMUSG00000036893
AA Change: L418F
| 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 |
possibly damaging
Transcript: ENSMUST00000114418
AA Change: L425F
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110061
Gene: ENSMUSG00000036893
AA Change: L425F
| 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: L418F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110075
Gene: ENSMUSG00000036893
AA Change: L418F
| 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 damaging
Transcript: ENSMUST00000147147
AA Change: L425F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119057
Gene: ENSMUSG00000036893
AA Change: L425F
| 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: ENSMUST00000150836
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152325
AA Change: L173F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000123387
Gene: ENSMUSG00000036893
AA Change: L173F
| 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 |
probably benign
Transcript: ENSMUST00000200655
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207383
AA Change: L124F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
A |
16: 4,682,454 (GRCm39) |
L195* |
probably null |
Het |
| Ahnak |
T |
G |
19: 8,983,196 (GRCm39) |
D1493E |
possibly damaging |
Het |
| Alox12e |
C |
A |
11: 70,212,111 (GRCm39) |
R162L |
probably benign |
Het |
| Bax |
T |
G |
7: 45,115,539 (GRCm39) |
Q32P |
probably benign |
Het |
| Cand1 |
A |
G |
10: 119,052,493 (GRCm39) |
M204T |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,761,684 (GRCm39) |
Y2256* |
probably null |
Het |
| Chuk |
A |
G |
19: 44,085,420 (GRCm39) |
I242T |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,987,715 (GRCm39) |
S1468P |
probably damaging |
Het |
| Col27a1 |
A |
G |
4: 63,142,789 (GRCm39) |
H159R |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,311,815 (GRCm39) |
K1174E |
probably damaging |
Het |
| Dnah2 |
C |
A |
11: 69,311,974 (GRCm39) |
|
probably null |
Het |
| Dpp3 |
C |
A |
19: 4,967,052 (GRCm39) |
E351* |
probably null |
Het |
| Dyrk1a |
A |
G |
16: 94,474,200 (GRCm39) |
Y319C |
probably damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,719,841 (GRCm39) |
S458P |
probably damaging |
Het |
| Emp2 |
C |
A |
16: 10,102,437 (GRCm39) |
R125L |
possibly damaging |
Het |
| Farsb |
A |
G |
1: 78,435,200 (GRCm39) |
|
probably null |
Het |
| Frk |
A |
T |
10: 34,360,021 (GRCm39) |
R7S |
possibly damaging |
Het |
| Glb1l2 |
T |
C |
9: 26,678,720 (GRCm39) |
T483A |
probably benign |
Het |
| Gm5773 |
T |
C |
3: 93,680,586 (GRCm39) |
V86A |
possibly damaging |
Het |
| Gm7324 |
T |
G |
14: 43,952,003 (GRCm39) |
D215E |
probably benign |
Het |
| Gng13 |
A |
T |
17: 25,937,932 (GRCm39) |
K44* |
probably null |
Het |
| Gprin1 |
C |
T |
13: 54,887,263 (GRCm39) |
G337D |
possibly damaging |
Het |
| Ighv1-84 |
G |
T |
12: 115,944,609 (GRCm39) |
Q22K |
probably benign |
Het |
| Il20rb |
T |
C |
9: 100,348,304 (GRCm39) |
H210R |
probably benign |
Het |
| Iqcm |
C |
T |
8: 76,304,578 (GRCm39) |
S113L |
probably benign |
Het |
| Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
| Kmo |
G |
T |
1: 175,487,236 (GRCm39) |
G430W |
probably damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Ldhd |
T |
G |
8: 112,356,023 (GRCm39) |
D120A |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,821,657 (GRCm39) |
S1344P |
possibly damaging |
Het |
| Mb |
T |
A |
15: 76,900,257 (GRCm39) |
I112F |
probably damaging |
Het |
| Mbd5 |
G |
A |
2: 49,147,118 (GRCm39) |
V443M |
probably damaging |
Het |
| Milr1 |
A |
G |
11: 106,654,688 (GRCm39) |
K180R |
possibly damaging |
Het |
| Mst1r |
T |
C |
9: 107,784,777 (GRCm39) |
F145S |
probably damaging |
Het |
| Mthfd2 |
A |
T |
6: 83,286,455 (GRCm39) |
I251K |
possibly damaging |
Het |
| Nfx1 |
T |
A |
4: 40,977,142 (GRCm39) |
M272K |
probably benign |
Het |
| Nlrp3 |
A |
G |
11: 59,442,689 (GRCm39) |
D747G |
probably benign |
Het |
| Odr4 |
C |
T |
1: 150,260,249 (GRCm39) |
R123K |
probably benign |
Het |
| Or2y1 |
A |
T |
11: 49,385,543 (GRCm39) |
Y61F |
probably benign |
Het |
| Or5p60 |
C |
A |
7: 107,724,329 (GRCm39) |
S47I |
possibly damaging |
Het |
| Or8k18 |
A |
T |
2: 86,085,202 (GRCm39) |
Y278* |
probably null |
Het |
| Pcdha11 |
A |
G |
18: 37,140,441 (GRCm39) |
E690G |
probably benign |
Het |
| Pcdhga4 |
T |
A |
18: 37,818,502 (GRCm39) |
I17N |
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
G |
2: 156,129,858 (GRCm39) |
K477E |
probably damaging |
Het |
| Pik3c2b |
T |
A |
1: 133,028,642 (GRCm39) |
I1377N |
probably benign |
Het |
| Polr3h |
T |
C |
15: 81,806,613 (GRCm39) |
K69E |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,368,641 (GRCm39) |
H280R |
possibly damaging |
Het |
| Rpp40 |
C |
A |
13: 36,086,034 (GRCm39) |
R132L |
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,790,364 (GRCm39) |
Q1488* |
probably null |
Het |
| Sh3bp1 |
A |
G |
15: 78,791,421 (GRCm39) |
M403V |
probably benign |
Het |
| Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,074,979 (GRCm39) |
N1517K |
possibly damaging |
Het |
| Srek1ip1 |
T |
A |
13: 104,973,981 (GRCm39) |
H129Q |
possibly damaging |
Het |
| Thumpd2 |
A |
T |
17: 81,334,116 (GRCm39) |
C491S |
probably benign |
Het |
| Tle3 |
A |
T |
9: 61,314,410 (GRCm39) |
N204I |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,862,167 (GRCm39) |
V677A |
probably benign |
Het |
| Topaz1 |
T |
G |
9: 122,576,499 (GRCm39) |
L30R |
probably benign |
Het |
| Trim35 |
T |
A |
14: 66,546,309 (GRCm39) |
C359S |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,774,865 (GRCm39) |
V2105G |
unknown |
Het |
| Ube2o |
A |
G |
11: 116,471,884 (GRCm39) |
V119A |
probably benign |
Het |
| Ubr2 |
A |
T |
17: 47,279,308 (GRCm39) |
|
probably null |
Het |
| Uhmk1 |
A |
G |
1: 170,032,757 (GRCm39) |
V347A |
possibly damaging |
Het |
| Utp4 |
C |
T |
8: 107,649,497 (GRCm39) |
P649S |
probably damaging |
Het |
| Vmn2r28 |
G |
A |
7: 5,483,818 (GRCm39) |
T794I |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,949,935 (GRCm39) |
F785C |
probably damaging |
Het |
| Xpot |
C |
A |
10: 121,458,848 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
C |
T |
13: 67,768,294 (GRCm39) |
R645H |
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 |
|
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 |
|
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'- CGGAGGATCACTTACGTGTCTC -3'
(R):5'- ATGTAGCCCAGAAGCATGTG -3'
Sequencing Primer
(F):5'- TCAGCTTTTTATAGGAGACCCTC -3'
(R):5'- GCAAAGGTGAAGTGGATCTTTTAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation