Incidental Mutation 'R7410:Ehmt1'
| ID |
574974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehmt1
|
| Ensembl Gene |
ENSMUSG00000036893 |
| Gene Name |
euchromatic histone methyltransferase 1 |
| Synonyms |
9230102N17Rik, KMT1D |
| MMRRC Submission |
045491-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7410 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
24680781-24809658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24738080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 508
(V508A)
|
| 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 benign
Transcript: ENSMUST00000046227
AA Change: V508A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046077
Gene: ENSMUSG00000036893
AA Change: V508A
| 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: V500A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088906
Gene: ENSMUSG00000036893
AA Change: V500A
| 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: V501A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100002
Gene: ENSMUSG00000036893
AA Change: V501A
| 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: V508A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110061
Gene: ENSMUSG00000036893
AA Change: V508A
| 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: V455A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110075
Gene: ENSMUSG00000036893
AA Change: V455A
| 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: V508A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119057
Gene: ENSMUSG00000036893
AA Change: V508A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000123387
Gene: ENSMUSG00000036893
AA Change: V210A
| 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 |
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210017I01Rik |
A |
G |
3: 92,512,551 (GRCm39) |
S3P |
unknown |
Het |
| Adgrv1 |
A |
T |
13: 81,711,738 (GRCm39) |
D1079E |
probably benign |
Het |
| Agbl5 |
A |
T |
5: 31,048,032 (GRCm39) |
Y102F |
possibly damaging |
Het |
| Ankfy1 |
T |
C |
11: 72,652,330 (GRCm39) |
L1094S |
probably damaging |
Het |
| Ankrd42 |
A |
T |
7: 92,259,762 (GRCm39) |
V337E |
possibly damaging |
Het |
| Axl |
A |
G |
7: 25,458,208 (GRCm39) |
L849P |
probably benign |
Het |
| Bmpr2 |
T |
C |
1: 59,907,652 (GRCm39) |
I915T |
probably benign |
Het |
| Cables1 |
T |
A |
18: 12,074,282 (GRCm39) |
F494L |
probably benign |
Het |
| Cacna1e |
A |
C |
1: 154,347,980 (GRCm39) |
V927G |
probably benign |
Het |
| Cavin1 |
A |
T |
11: 100,849,670 (GRCm39) |
V320E |
probably damaging |
Het |
| Cemip |
T |
G |
7: 83,602,042 (GRCm39) |
S916R |
probably damaging |
Het |
| Cep57 |
G |
A |
9: 13,729,980 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,919,433 (GRCm39) |
N120D |
probably damaging |
Het |
| Cfap44 |
A |
T |
16: 44,288,776 (GRCm39) |
S1509C |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,528,866 (GRCm39) |
D281G |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,423,920 (GRCm39) |
F282L |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,459,787 (GRCm39) |
V1855E |
possibly damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,119 (GRCm39) |
V169D |
probably damaging |
Het |
| Cpd |
T |
A |
11: 76,673,134 (GRCm39) |
H1337L |
probably damaging |
Het |
| Crabp2 |
T |
A |
3: 87,859,585 (GRCm39) |
D78E |
probably damaging |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Cyp2ab1 |
G |
A |
16: 20,135,475 (GRCm39) |
A9V |
probably benign |
Het |
| Cyp3a41b |
T |
C |
5: 145,514,967 (GRCm39) |
D86G |
probably damaging |
Het |
| Dner |
T |
A |
1: 84,563,332 (GRCm39) |
D96V |
probably damaging |
Het |
| Duox1 |
C |
A |
2: 122,176,874 (GRCm39) |
T1465N |
probably damaging |
Het |
| Ehd3 |
T |
A |
17: 74,112,428 (GRCm39) |
V64E |
probably benign |
Het |
| Ephb3 |
G |
A |
16: 21,040,158 (GRCm39) |
V761I |
possibly damaging |
Het |
| Fam161b |
T |
C |
12: 84,404,575 (GRCm39) |
Q35R |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,844,826 (GRCm39) |
K473* |
probably null |
Het |
| Fam227b |
A |
T |
2: 125,960,983 (GRCm39) |
D215E |
probably damaging |
Het |
| Fkbp15 |
C |
A |
4: 62,258,536 (GRCm39) |
D144Y |
probably damaging |
Het |
| Galt |
T |
C |
4: 41,757,707 (GRCm39) |
I259T |
possibly damaging |
Het |
| Gbp11 |
G |
A |
5: 105,491,774 (GRCm39) |
P8S |
probably damaging |
Het |
| Gfap |
A |
T |
11: 102,783,963 (GRCm39) |
M339K |
probably damaging |
Het |
| Gm14443 |
C |
T |
2: 175,011,069 (GRCm39) |
R459Q |
possibly damaging |
Het |
| Grip1 |
A |
G |
10: 119,855,925 (GRCm39) |
N632S |
probably benign |
Het |
| H4c18 |
G |
A |
13: 22,016,211 (GRCm39) |
R40W |
probably damaging |
Het |
| Hcar1 |
T |
G |
5: 124,017,161 (GRCm39) |
I177L |
possibly damaging |
Het |
| Ighv1-37 |
A |
G |
12: 114,860,099 (GRCm39) |
V37A |
probably damaging |
Het |
| Ilf3 |
T |
A |
9: 21,311,100 (GRCm39) |
F657L |
unknown |
Het |
| Ints2 |
T |
G |
11: 86,124,052 (GRCm39) |
T579P |
probably benign |
Het |
| Iqgap1 |
G |
T |
7: 80,372,778 (GRCm39) |
Y1520* |
probably null |
Het |
| Kdm4a |
T |
C |
4: 118,001,115 (GRCm39) |
H884R |
possibly damaging |
Het |
| Krtap19-1 |
A |
T |
16: 88,666,132 (GRCm39) |
Y52N |
unknown |
Het |
| Lama5 |
A |
T |
2: 179,844,183 (GRCm39) |
|
probably null |
Het |
| Lrrc72 |
T |
C |
12: 36,272,803 (GRCm39) |
N89D |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,698,897 (GRCm39) |
D16G |
possibly damaging |
Het |
| Mefv |
A |
G |
16: 3,533,545 (GRCm39) |
L242P |
probably damaging |
Het |
| Mob3c |
T |
C |
4: 115,688,784 (GRCm39) |
Y106H |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,014,683 (GRCm39) |
I189T |
probably damaging |
Het |
| Nudt7 |
T |
C |
8: 114,860,559 (GRCm39) |
|
probably benign |
Het |
| Or13p10 |
T |
C |
4: 118,523,629 (GRCm39) |
L305P |
probably benign |
Het |
| Or4f7 |
T |
A |
2: 111,644,271 (GRCm39) |
I267L |
probably benign |
Het |
| Pappa |
A |
G |
4: 65,253,956 (GRCm39) |
T1537A |
probably damaging |
Het |
| Pik3r4 |
T |
A |
9: 105,527,790 (GRCm39) |
V381E |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,794,855 (GRCm39) |
Y2181N |
probably damaging |
Het |
| Pmel |
G |
T |
10: 128,552,353 (GRCm39) |
V396F |
probably benign |
Het |
| Prdm9 |
A |
G |
17: 15,765,259 (GRCm39) |
I507T |
possibly damaging |
Het |
| Psme4 |
C |
T |
11: 30,765,279 (GRCm39) |
Q549* |
probably null |
Het |
| Ptprg |
T |
A |
14: 11,962,657 (GRCm38) |
W152R |
probably damaging |
Het |
| Ptprm |
A |
C |
17: 67,000,561 (GRCm39) |
V1141G |
probably damaging |
Het |
| Rapgef5 |
G |
A |
12: 117,685,063 (GRCm39) |
V505M |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,325,877 (GRCm39) |
M1558K |
|
Het |
| Slc35a1 |
A |
G |
4: 34,675,034 (GRCm39) |
V168A |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,096,693 (GRCm39) |
T347A |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,531,978 (GRCm39) |
V2745D |
probably benign |
Het |
| Taar7e |
A |
T |
10: 23,914,424 (GRCm39) |
T305S |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,337,074 (GRCm39) |
S551G |
probably benign |
Het |
| Tmc5 |
T |
A |
7: 118,222,820 (GRCm39) |
Y173* |
probably null |
Het |
| Tns2 |
T |
A |
15: 102,018,961 (GRCm39) |
V384D |
probably damaging |
Het |
| Tubgcp4 |
T |
A |
2: 121,014,890 (GRCm39) |
Y267N |
probably damaging |
Het |
| Vmn1r53 |
A |
G |
6: 90,200,700 (GRCm39) |
V208A |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,696,191 (GRCm39) |
D2784G |
|
Het |
| Zfp712 |
A |
C |
13: 67,189,400 (GRCm39) |
S376A |
probably benign |
Het |
| Znrf3 |
C |
T |
11: 5,238,955 (GRCm39) |
C232Y |
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 |
|
|
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 |
|
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'- GAAGATGACAGTTCTTGTTGCC -3'
(R):5'- GATGAACTTGCAGCCTGTCC -3'
Sequencing Primer
(F):5'- ACAGTTCTTGTTGCCATTTTAAGG -3'
(R):5'- GAACTTGCAGCCTGTCCTATGAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation