Incidental Mutation 'IGL02750:Ehmt1'
ID |
306263 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ehmt1
|
Ensembl Gene |
ENSMUSG00000036893 |
Gene Name |
euchromatic histone methyltransferase 1 |
Synonyms |
9230102N17Rik, KMT1D |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02750
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
24680781-24809658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24753881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 161
(T161I)
|
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: T293I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046077 Gene: ENSMUSG00000036893 AA Change: T293I
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: T285I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000088906 Gene: ENSMUSG00000036893 AA Change: T285I
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: T286I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000100002 Gene: ENSMUSG00000036893 AA Change: T286I
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: T293I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110061 Gene: ENSMUSG00000036893 AA Change: T293I
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: T286I
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110075 Gene: ENSMUSG00000036893 AA Change: T286I
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: T293I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119057 Gene: ENSMUSG00000036893 AA Change: T293I
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: ENSMUST00000152161
AA Change: T292I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119854 Gene: ENSMUSG00000036893 AA Change: T292I
Domain | Start | End | E-Value | Type |
low complexity region
|
339 |
358 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198923
AA Change: T161I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143189 Gene: ENSMUSG00000036893 AA Change: T161I
Domain | Start | End | E-Value | Type |
low complexity region
|
208 |
227 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000207383
AA Change: T18I
|
Predicted Effect |
unknown
Transcript: ENSMUST00000152325
AA Change: T41I
|
SMART Domains |
Protein: ENSMUSP00000123387 Gene: ENSMUSG00000036893 AA Change: T41I
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: ENSMUST00000150379
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200655
|
Coding Region Coverage |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amotl1 |
T |
C |
9: 14,460,087 (GRCm39) |
K884R |
probably benign |
Het |
Ano3 |
T |
A |
2: 110,496,329 (GRCm39) |
|
probably benign |
Het |
Baz2b |
C |
A |
2: 59,799,002 (GRCm39) |
S374I |
possibly damaging |
Het |
Brd4 |
G |
A |
17: 32,417,353 (GRCm39) |
|
probably benign |
Het |
Cd3g |
C |
A |
9: 44,882,608 (GRCm39) |
|
probably benign |
Het |
Ckmt1 |
C |
T |
2: 121,194,096 (GRCm39) |
|
probably benign |
Het |
Clcnkb |
T |
C |
4: 141,132,673 (GRCm39) |
|
probably null |
Het |
Dkkl1 |
C |
T |
7: 44,859,536 (GRCm39) |
|
probably null |
Het |
Ern2 |
A |
G |
7: 121,780,629 (GRCm39) |
|
probably benign |
Het |
Fmnl2 |
T |
C |
2: 52,993,709 (GRCm39) |
I368T |
possibly damaging |
Het |
Gabra5 |
G |
T |
7: 57,157,739 (GRCm39) |
S25Y |
probably benign |
Het |
Gemin7 |
C |
T |
7: 19,299,344 (GRCm39) |
V84M |
probably null |
Het |
Gm17654 |
A |
G |
14: 43,815,656 (GRCm39) |
|
probably benign |
Het |
Grk6 |
T |
C |
13: 55,599,356 (GRCm39) |
F186S |
probably damaging |
Het |
Gtf2ird2 |
A |
G |
5: 134,245,731 (GRCm39) |
H663R |
probably damaging |
Het |
Gtf3c1 |
T |
A |
7: 125,275,684 (GRCm39) |
I581F |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,854,127 (GRCm39) |
|
probably benign |
Het |
Hook3 |
A |
T |
8: 26,585,782 (GRCm39) |
|
probably benign |
Het |
Ints4 |
T |
A |
7: 97,166,964 (GRCm39) |
|
probably null |
Het |
Kpna6 |
T |
C |
4: 129,555,170 (GRCm39) |
N20D |
probably damaging |
Het |
Krtap29-1 |
T |
C |
11: 99,869,510 (GRCm39) |
S124G |
probably benign |
Het |
Krtap4-16 |
C |
A |
11: 99,742,106 (GRCm39) |
R98L |
possibly damaging |
Het |
Lrrc28 |
T |
C |
7: 67,181,431 (GRCm39) |
D268G |
probably damaging |
Het |
Mcm6 |
T |
A |
1: 128,271,209 (GRCm39) |
Q470L |
probably damaging |
Het |
Neb |
T |
C |
2: 52,181,067 (GRCm39) |
H1180R |
probably benign |
Het |
Nxpe3 |
C |
A |
16: 55,680,738 (GRCm39) |
V285L |
probably benign |
Het |
Or10al2 |
T |
A |
17: 37,983,500 (GRCm39) |
C195* |
probably null |
Het |
Or14a260 |
T |
A |
7: 85,984,752 (GRCm39) |
N284I |
probably damaging |
Het |
Or4k37 |
A |
G |
2: 111,159,633 (GRCm39) |
R290G |
probably damaging |
Het |
Pdcd1 |
A |
G |
1: 93,967,269 (GRCm39) |
|
probably benign |
Het |
Pnkp |
A |
G |
7: 44,509,611 (GRCm39) |
|
probably benign |
Het |
Pou4f2 |
A |
T |
8: 79,161,692 (GRCm39) |
F304I |
probably damaging |
Het |
Rita1 |
G |
A |
5: 120,747,716 (GRCm39) |
T194M |
possibly damaging |
Het |
Rnpc3 |
T |
C |
3: 113,415,588 (GRCm39) |
T150A |
possibly damaging |
Het |
Sema3b |
T |
C |
9: 107,480,363 (GRCm39) |
T168A |
probably benign |
Het |
Skint5 |
T |
A |
4: 113,396,559 (GRCm39) |
M1205L |
unknown |
Het |
Sox13 |
A |
C |
1: 133,311,534 (GRCm39) |
I566S |
probably benign |
Het |
Tbc1d32 |
T |
C |
10: 56,074,587 (GRCm39) |
T209A |
possibly damaging |
Het |
Tonsl |
G |
T |
15: 76,517,589 (GRCm39) |
P710Q |
probably damaging |
Het |
Trpm5 |
T |
C |
7: 142,628,221 (GRCm39) |
H1018R |
possibly damaging |
Het |
Ubr2 |
A |
T |
17: 47,280,208 (GRCm39) |
M647K |
probably benign |
Het |
Ubr7 |
A |
T |
12: 102,737,537 (GRCm39) |
T395S |
possibly damaging |
Het |
Uri1 |
G |
A |
7: 37,666,906 (GRCm39) |
R176* |
probably null |
Het |
Vmn1r188 |
A |
T |
13: 22,272,900 (GRCm39) |
I285F |
probably damaging |
Het |
Vmn2r116 |
T |
A |
17: 23,616,608 (GRCm39) |
|
probably benign |
Het |
Vmn2r2 |
C |
A |
3: 64,024,823 (GRCm39) |
C586F |
probably damaging |
Het |
Vmn2r96 |
T |
A |
17: 18,802,851 (GRCm39) |
W62R |
probably benign |
Het |
Zfp24 |
A |
T |
18: 24,150,410 (GRCm39) |
S167T |
possibly damaging |
Het |
Zfp462 |
A |
G |
4: 55,060,236 (GRCm39) |
K1254R |
probably null |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |