Incidental Mutation 'R1800:Ehmt1'
| ID |
203006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehmt1
|
| Ensembl Gene |
ENSMUSG00000036893 |
| Gene Name |
euchromatic histone methyltransferase 1 |
| Synonyms |
9230102N17Rik, KMT1D |
| MMRRC Submission |
039830-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1800 (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 24774302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 43
(S43R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046227]
[ENSMUST00000091348]
[ENSMUST00000102938]
[ENSMUST00000114418]
[ENSMUST00000114432]
[ENSMUST00000147147]
[ENSMUST00000152161]
[ENSMUST00000198923]
[ENSMUST00000150379]
[ENSMUST00000200655]
|
| AlphaFold |
Q5DW34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046227
AA Change: S167R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046077
Gene: ENSMUSG00000036893
AA Change: S167R
| 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: ENSMUST00000091348
AA Change: S166R
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000088906
Gene: ENSMUSG00000036893
AA Change: S166R
| 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: S167R
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000100002
Gene: ENSMUSG00000036893
AA Change: S167R
| 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: S167R
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110061
Gene: ENSMUSG00000036893
AA Change: S167R
| 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: S167R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110075
Gene: ENSMUSG00000036893
AA Change: S167R
| 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: S167R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119057
Gene: ENSMUSG00000036893
AA Change: S167R
| 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 |
possibly damaging
Transcript: ENSMUST00000152161
AA Change: S166R
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119854
Gene: ENSMUSG00000036893
AA Change: S166R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
339 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198923
AA Change: S43R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143189
Gene: ENSMUSG00000036893
AA Change: S43R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
208 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150379
AA Change: S169R
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200655
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.2%
|
| 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: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,772,479 (GRCm39) |
K556R |
probably damaging |
Het |
| 4933406P04Rik |
A |
T |
10: 20,186,893 (GRCm39) |
|
probably benign |
Het |
| Acmsd |
C |
A |
1: 127,687,493 (GRCm39) |
Y258* |
probably null |
Het |
| Adgrf5 |
A |
T |
17: 43,761,973 (GRCm39) |
I1223F |
probably damaging |
Het |
| Afp |
C |
T |
5: 90,638,655 (GRCm39) |
P6S |
probably benign |
Het |
| Agap2 |
C |
A |
10: 126,927,540 (GRCm39) |
H1120Q |
probably damaging |
Het |
| Angpt1 |
A |
G |
15: 42,375,800 (GRCm39) |
V152A |
probably damaging |
Het |
| Ankrd1 |
A |
T |
19: 36,096,759 (GRCm39) |
F23I |
probably damaging |
Het |
| Armc12 |
T |
C |
17: 28,757,869 (GRCm39) |
S334P |
possibly damaging |
Het |
| Arnt2 |
C |
A |
7: 83,924,583 (GRCm39) |
D415Y |
probably damaging |
Het |
| Cacna1s |
G |
T |
1: 136,004,592 (GRCm39) |
V131L |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,404,632 (GRCm39) |
V1141A |
possibly damaging |
Het |
| Cfap61 |
T |
C |
2: 145,884,542 (GRCm39) |
L580P |
probably damaging |
Het |
| Chga |
A |
T |
12: 102,522,164 (GRCm39) |
S23C |
probably damaging |
Het |
| Chrna5 |
A |
G |
9: 54,912,159 (GRCm39) |
T320A |
probably damaging |
Het |
| Col17a1 |
G |
T |
19: 47,639,301 (GRCm39) |
N1081K |
possibly damaging |
Het |
| Cox7b2 |
A |
T |
5: 71,600,406 (GRCm39) |
C51S |
possibly damaging |
Het |
| Cstdc3 |
T |
A |
16: 36,132,895 (GRCm39) |
D57E |
probably damaging |
Het |
| Cwc22 |
A |
T |
2: 77,759,797 (GRCm39) |
D83E |
possibly damaging |
Het |
| D130043K22Rik |
A |
C |
13: 25,067,877 (GRCm39) |
D871A |
probably damaging |
Het |
| Dab2 |
A |
T |
15: 6,464,948 (GRCm39) |
M361L |
probably benign |
Het |
| Dnah11 |
A |
C |
12: 117,880,523 (GRCm39) |
Y3866D |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,890,159 (GRCm39) |
I536T |
probably benign |
Het |
| Ercc5 |
T |
C |
1: 44,212,540 (GRCm39) |
L666P |
probably benign |
Het |
| F5 |
A |
G |
1: 164,010,403 (GRCm39) |
H378R |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,174,718 (GRCm39) |
N1998K |
probably damaging |
Het |
| Fbxo28 |
T |
C |
1: 182,169,099 (GRCm39) |
D13G |
unknown |
Het |
| Fras1 |
T |
C |
5: 96,857,741 (GRCm39) |
S2012P |
probably benign |
Het |
| Gm5624 |
T |
A |
14: 44,799,302 (GRCm39) |
N41I |
probably damaging |
Het |
| Gm8104 |
A |
G |
14: 42,959,028 (GRCm39) |
I73V |
possibly damaging |
Het |
| Gpr141b |
T |
C |
13: 19,913,849 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr68 |
G |
A |
12: 100,845,167 (GRCm39) |
P126S |
probably damaging |
Het |
| Gucy1a2 |
A |
T |
9: 3,582,685 (GRCm39) |
T156S |
possibly damaging |
Het |
| Hacl1 |
T |
A |
14: 31,336,221 (GRCm39) |
Y429F |
probably damaging |
Het |
| Haus3 |
A |
C |
5: 34,320,916 (GRCm39) |
L510R |
probably damaging |
Het |
| Helq |
C |
T |
5: 100,921,990 (GRCm39) |
G738D |
probably benign |
Het |
| Hsd3b2 |
G |
C |
3: 98,619,553 (GRCm39) |
P131A |
probably damaging |
Het |
| Il22ra1 |
G |
T |
4: 135,475,471 (GRCm39) |
C247F |
probably benign |
Het |
| Ivl |
T |
C |
3: 92,479,891 (GRCm39) |
E58G |
unknown |
Het |
| Kcnk9 |
G |
T |
15: 72,417,948 (GRCm39) |
Q61K |
probably benign |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
G |
T |
18: 77,490,198 (GRCm39) |
A1314S |
probably damaging |
Het |
| Lratd1 |
T |
C |
12: 14,200,226 (GRCm39) |
Y167C |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,259,175 (GRCm39) |
I1397V |
probably benign |
Het |
| Lrig3 |
T |
A |
10: 125,832,920 (GRCm39) |
|
probably null |
Het |
| Lrrc36 |
A |
G |
8: 106,176,397 (GRCm39) |
D378G |
probably damaging |
Het |
| Lrrc49 |
G |
A |
9: 60,505,474 (GRCm39) |
T527I |
probably damaging |
Het |
| Map4k4 |
C |
A |
1: 40,062,620 (GRCm39) |
T1195K |
probably damaging |
Het |
| Mrps33 |
G |
A |
6: 39,779,429 (GRCm39) |
R89C |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,547,349 (GRCm39) |
V444A |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,079,764 (GRCm39) |
E1046G |
probably damaging |
Het |
| Myo15b |
G |
T |
11: 115,771,335 (GRCm39) |
|
probably null |
Het |
| Myo5c |
T |
C |
9: 75,153,446 (GRCm39) |
Y111H |
probably damaging |
Het |
| Ncoa4-ps |
A |
T |
12: 119,225,506 (GRCm39) |
|
noncoding transcript |
Het |
| Ndufv2 |
G |
C |
17: 66,390,481 (GRCm39) |
T163R |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,444,794 (GRCm39) |
N373S |
possibly damaging |
Het |
| Nwd2 |
A |
G |
5: 63,962,917 (GRCm39) |
M834V |
probably benign |
Het |
| Ogfod2 |
T |
C |
5: 124,253,019 (GRCm39) |
V343A |
probably damaging |
Het |
| Or11g2 |
C |
T |
14: 50,856,143 (GRCm39) |
L155F |
probably benign |
Het |
| Or11j4 |
C |
A |
14: 50,630,786 (GRCm39) |
S191* |
probably null |
Het |
| Or3a1b |
A |
T |
11: 74,012,234 (GRCm39) |
T40S |
probably benign |
Het |
| Or4c115 |
T |
A |
2: 88,928,050 (GRCm39) |
T74S |
probably benign |
Het |
| Or51ag1 |
T |
C |
7: 103,155,248 (GRCm39) |
I302V |
possibly damaging |
Het |
| Or52ab2 |
T |
A |
7: 102,969,621 (GRCm39) |
M1K |
probably null |
Het |
| Or8g34 |
A |
T |
9: 39,373,410 (GRCm39) |
I228F |
probably damaging |
Het |
| Parp1 |
T |
A |
1: 180,428,091 (GRCm39) |
|
probably null |
Het |
| Ppp3ca |
A |
T |
3: 136,640,792 (GRCm39) |
I448F |
probably damaging |
Het |
| Prss44 |
T |
C |
9: 110,646,272 (GRCm39) |
V333A |
probably damaging |
Het |
| Pxk |
C |
T |
14: 8,151,507 (GRCm38) |
R441* |
probably null |
Het |
| Rars1 |
A |
C |
11: 35,716,822 (GRCm39) |
D231E |
probably benign |
Het |
| Rfc1 |
T |
C |
5: 65,421,722 (GRCm39) |
Y1059C |
probably damaging |
Het |
| Rilpl1 |
T |
A |
5: 124,652,719 (GRCm39) |
I2F |
probably damaging |
Het |
| Sarm1 |
G |
T |
11: 78,381,820 (GRCm39) |
A221E |
possibly damaging |
Het |
| Serpina3f |
A |
G |
12: 104,183,665 (GRCm39) |
T176A |
probably damaging |
Het |
| Slc22a20 |
T |
C |
19: 6,035,695 (GRCm39) |
E131G |
probably benign |
Het |
| Slc26a11 |
T |
C |
11: 119,263,979 (GRCm39) |
V343A |
probably damaging |
Het |
| Slc2a4 |
A |
G |
11: 69,837,133 (GRCm39) |
I9T |
probably benign |
Het |
| Slc39a6 |
G |
T |
18: 24,718,259 (GRCm39) |
D599E |
probably damaging |
Het |
| Slc5a6 |
G |
T |
5: 31,198,020 (GRCm39) |
S285* |
probably null |
Het |
| Spata9 |
A |
G |
13: 76,125,760 (GRCm39) |
H81R |
probably benign |
Het |
| St7l |
A |
G |
3: 104,826,812 (GRCm39) |
E436G |
probably damaging |
Het |
| Tecrl |
A |
G |
5: 83,427,077 (GRCm39) |
I357T |
probably damaging |
Het |
| Thop1 |
C |
T |
10: 80,909,043 (GRCm39) |
R25C |
probably damaging |
Het |
| Tmprss12 |
A |
G |
15: 100,190,428 (GRCm39) |
E266G |
probably benign |
Het |
| Tpgs1 |
T |
A |
10: 79,511,344 (GRCm39) |
V162D |
possibly damaging |
Het |
| Trpa1 |
C |
T |
1: 14,944,648 (GRCm39) |
R1032Q |
probably benign |
Het |
| Tspan12 |
A |
G |
6: 21,795,699 (GRCm39) |
Y164H |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,135,274 (GRCm39) |
Y869H |
probably damaging |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,799 (GRCm39) |
I215T |
probably benign |
Het |
| Zan |
A |
T |
5: 137,384,713 (GRCm39) |
S5104T |
unknown |
Het |
| Zfp318 |
T |
C |
17: 46,722,980 (GRCm39) |
V1661A |
probably benign |
Het |
| Zfp365 |
C |
T |
10: 67,724,772 (GRCm39) |
R372K |
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 |
|
|
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'- ACCTGGCTTTGCTGTTCATATG -3'
(R):5'- CACAGCTGACGACTTCATGC -3'
Sequencing Primer
(F):5'- AGCTACTTATTGATGACTACTGCC -3'
(R):5'- TGACGACTTCATGCAGACATCTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation