Incidental Mutation 'R1665:Ehmt1'
| ID |
187083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehmt1
|
| Ensembl Gene |
ENSMUSG00000036893 |
| Gene Name |
euchromatic histone methyltransferase 1 |
| Synonyms |
9230102N17Rik, KMT1D |
| MMRRC Submission |
039701-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1665 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24680781-24809658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24767476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 272
(S272P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046227]
[ENSMUST00000091348]
[ENSMUST00000102938]
[ENSMUST00000114418]
[ENSMUST00000114432]
[ENSMUST00000147147]
[ENSMUST00000198923]
[ENSMUST00000152161]
[ENSMUST00000150379]
[ENSMUST00000200655]
|
| AlphaFold |
Q5DW34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046227
AA Change: S270P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046077
Gene: ENSMUSG00000036893
AA Change: S270P
| 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: S269P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000088906
Gene: ENSMUSG00000036893
AA Change: S269P
| 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: S270P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000100002
Gene: ENSMUSG00000036893
AA Change: S270P
| 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: S270P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000110061
Gene: ENSMUSG00000036893
AA Change: S270P
| 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: S270P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110075
Gene: ENSMUSG00000036893
AA Change: S270P
| 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: S270P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119057
Gene: ENSMUSG00000036893
AA Change: S270P
| 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: ENSMUST00000198923
AA Change: S146P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143189
Gene: ENSMUSG00000036893
AA Change: S146P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
208 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152161
AA Change: S269P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119854
Gene: ENSMUSG00000036893
AA Change: S269P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
339 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152325
AA Change: S18P
|
| SMART Domains |
Protein: ENSMUSP00000123387
Gene: ENSMUSG00000036893
AA Change: S18P
| 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 damaging
Transcript: ENSMUST00000150379
AA Change: S272P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192397
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200655
|
| Meta Mutation Damage Score |
0.0713 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
100% (87/87) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,596,816 (GRCm39) |
G423E |
probably damaging |
Het |
| Acox3 |
A |
T |
5: 35,760,371 (GRCm39) |
H429L |
probably damaging |
Het |
| Afg1l |
T |
A |
10: 42,302,573 (GRCm39) |
K142N |
probably damaging |
Het |
| Aldh1a7 |
T |
C |
19: 20,704,825 (GRCm39) |
I18V |
probably benign |
Het |
| Angel2 |
T |
C |
1: 190,669,664 (GRCm39) |
Y115H |
probably damaging |
Het |
| Bsg |
T |
G |
10: 79,547,352 (GRCm39) |
N261K |
probably damaging |
Het |
| C2cd2l |
A |
T |
9: 44,228,072 (GRCm39) |
V83E |
probably benign |
Het |
| Caml |
C |
A |
13: 55,779,784 (GRCm39) |
L286I |
probably benign |
Het |
| Ccdc125 |
A |
G |
13: 100,830,081 (GRCm39) |
I284V |
probably benign |
Het |
| Ces2a |
G |
A |
8: 105,464,187 (GRCm39) |
|
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,877,239 (GRCm39) |
|
probably null |
Het |
| Creg2 |
C |
T |
1: 39,662,372 (GRCm39) |
W253* |
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,560,185 (GRCm39) |
T2293A |
probably damaging |
Het |
| Cttnbp2 |
A |
T |
6: 18,434,982 (GRCm39) |
I292K |
probably benign |
Het |
| Dab2ip |
T |
A |
2: 35,610,290 (GRCm39) |
M770K |
probably damaging |
Het |
| Dct |
T |
A |
14: 118,271,663 (GRCm39) |
D389V |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 118,012,321 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,101,761 (GRCm39) |
E1921G |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,611,940 (GRCm39) |
K594R |
probably benign |
Het |
| Ero1b |
T |
C |
13: 12,594,142 (GRCm39) |
|
probably null |
Het |
| Fnip2 |
A |
G |
3: 79,422,456 (GRCm39) |
F108S |
probably benign |
Het |
| Foxb1 |
G |
A |
9: 69,667,104 (GRCm39) |
A142V |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,746,768 (GRCm39) |
S613C |
probably damaging |
Het |
| Gm7276 |
C |
A |
18: 77,273,266 (GRCm39) |
|
probably benign |
Het |
| Gnb4 |
A |
C |
3: 32,644,188 (GRCm39) |
L152* |
probably null |
Het |
| H1f7 |
G |
T |
15: 98,154,796 (GRCm39) |
Q118K |
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,704,406 (GRCm39) |
L119P |
probably damaging |
Het |
| Hsd17b4 |
G |
A |
18: 50,293,282 (GRCm39) |
E274K |
probably benign |
Het |
| Htr4 |
T |
C |
18: 62,545,305 (GRCm39) |
I30T |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,577,973 (GRCm39) |
Y512F |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Klhl22 |
C |
A |
16: 17,594,352 (GRCm39) |
D160E |
probably benign |
Het |
| Kpna6 |
T |
A |
4: 129,551,264 (GRCm39) |
R80S |
probably benign |
Het |
| Lclat1 |
A |
G |
17: 73,494,999 (GRCm39) |
E142G |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 125,833,570 (GRCm39) |
Y349H |
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
A |
13: 99,568,437 (GRCm39) |
N1428I |
unknown |
Het |
| Map3k19 |
T |
A |
1: 127,745,393 (GRCm39) |
T1354S |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,887,813 (GRCm39) |
W1696R |
probably damaging |
Het |
| Mfn1 |
T |
G |
3: 32,588,471 (GRCm39) |
V66G |
probably benign |
Het |
| Mllt10 |
A |
T |
2: 18,213,601 (GRCm39) |
Q459L |
possibly damaging |
Het |
| Morc2a |
G |
A |
11: 3,625,885 (GRCm39) |
V162M |
probably benign |
Het |
| Muc15 |
C |
T |
2: 110,564,243 (GRCm39) |
Q260* |
probably null |
Het |
| Nfkb1 |
T |
C |
3: 135,300,718 (GRCm39) |
H616R |
probably damaging |
Het |
| Nr2c1 |
T |
A |
10: 94,024,045 (GRCm39) |
W417R |
probably damaging |
Het |
| Or10a2 |
T |
C |
7: 106,673,481 (GRCm39) |
S149P |
probably damaging |
Het |
| Or13a26 |
G |
T |
7: 140,284,707 (GRCm39) |
C181F |
probably damaging |
Het |
| Or4g16 |
T |
C |
2: 111,137,116 (GRCm39) |
C189R |
probably damaging |
Het |
| Or4k39 |
T |
C |
2: 111,239,098 (GRCm39) |
Y113H |
probably damaging |
Het |
| Or5b121 |
A |
T |
19: 13,507,202 (GRCm39) |
H99L |
probably damaging |
Het |
| Or8c10 |
C |
T |
9: 38,278,862 (GRCm39) |
H7Y |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,117,702 (GRCm39) |
D26G |
probably damaging |
Het |
| Pi15 |
G |
T |
1: 17,691,726 (GRCm39) |
C176F |
probably damaging |
Het |
| Pou2f2 |
T |
A |
7: 24,792,149 (GRCm39) |
T569S |
possibly damaging |
Het |
| Prf1 |
A |
C |
10: 61,138,666 (GRCm39) |
E208A |
probably benign |
Het |
| Prkd1 |
G |
A |
12: 50,441,709 (GRCm39) |
H277Y |
probably damaging |
Het |
| Rc3h1 |
T |
A |
1: 160,786,993 (GRCm39) |
V796E |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,409,326 (GRCm39) |
Y503C |
probably damaging |
Het |
| Ripk3 |
T |
A |
14: 56,023,808 (GRCm39) |
H1L |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,735,503 (GRCm39) |
D4064N |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,674,724 (GRCm39) |
|
probably null |
Het |
| Slco1a4 |
T |
G |
6: 141,785,303 (GRCm39) |
M96L |
possibly damaging |
Het |
| Slit3 |
A |
T |
11: 35,125,733 (GRCm39) |
R137S |
possibly damaging |
Het |
| Smad1 |
T |
C |
8: 80,098,658 (GRCm39) |
E52G |
probably damaging |
Het |
| Srd5a2 |
A |
T |
17: 74,328,476 (GRCm39) |
W201R |
probably damaging |
Het |
| Steap1 |
A |
T |
5: 5,786,498 (GRCm39) |
L313Q |
probably damaging |
Het |
| Syt2 |
C |
A |
1: 134,675,358 (GRCm39) |
A403D |
probably damaging |
Het |
| Tax1bp1 |
T |
A |
6: 52,713,897 (GRCm39) |
S225R |
probably benign |
Het |
| Thap3 |
C |
T |
4: 152,070,161 (GRCm39) |
V78M |
probably damaging |
Het |
| Thoc5 |
A |
G |
11: 4,869,792 (GRCm39) |
K446R |
probably benign |
Het |
| Timmdc1 |
A |
C |
16: 38,331,079 (GRCm39) |
|
probably null |
Het |
| Tm6sf2 |
G |
T |
8: 70,531,580 (GRCm39) |
|
probably benign |
Het |
| Tmem126b |
G |
T |
7: 90,125,179 (GRCm39) |
A2E |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,301,887 (GRCm39) |
R584W |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,661,200 (GRCm39) |
|
probably benign |
Het |
| Vmn1r25 |
A |
T |
6: 57,955,446 (GRCm39) |
I281N |
probably damaging |
Het |
| Wdr59 |
A |
G |
8: 112,205,994 (GRCm39) |
F553S |
probably damaging |
Het |
| Zc3h4 |
A |
G |
7: 16,163,505 (GRCm39) |
M575V |
unknown |
Het |
| Zfp53 |
A |
G |
17: 21,729,766 (GRCm39) |
T600A |
probably damaging |
Het |
| Zic5 |
A |
G |
14: 122,696,939 (GRCm39) |
S559P |
unknown |
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 |
|
|
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 |
|
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'- CCAGCACCTCACTGAGATTCACTG -3'
(R):5'- ACCTGATCCAGCAGAGGATGGTAG -3'
Sequencing Primer
(F):5'- CACTCGTATCTCGTAAGATTTCAG -3'
(R):5'- TCTATTCCTATGGTTCACGAGTTAG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation