Incidental Mutation 'IGL03058:Dot1l'
| ID |
409325 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dot1l
|
| Ensembl Gene |
ENSMUSG00000061589 |
| Gene Name |
DOT1 like histone lysine methyltransferase |
| Synonyms |
KMT4, mDot1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03058
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80591040-80631295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80626831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 230
(S230P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105336]
[ENSMUST00000127740]
[ENSMUST00000149394]
[ENSMUST00000150338]
|
| AlphaFold |
Q6XZL8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105336
AA Change: S1351P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100973
Gene: ENSMUSG00000061589
AA Change: S1351P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DOT1
|
115 |
317 |
9.4e-86 |
PFAM |
|
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
|
AT_hook
|
407 |
419 |
4.64e-1 |
SMART |
|
low complexity region
|
437 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
558 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
917 |
936 |
N/A |
INTRINSIC |
|
low complexity region
|
948 |
961 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1095 |
N/A |
INTRINSIC |
|
low complexity region
|
1145 |
1157 |
N/A |
INTRINSIC |
|
low complexity region
|
1186 |
1198 |
N/A |
INTRINSIC |
|
low complexity region
|
1436 |
1446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138505
|
| SMART Domains |
Protein: ENSMUSP00000119492
Gene: ENSMUSG00000061589
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149394
AA Change: S230P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127762
Gene: ENSMUSG00000061589
AA Change: S230P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150338
|
| SMART Domains |
Protein: ENSMUSP00000116581
Gene: ENSMUSG00000061589
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DOT1
|
1 |
100 |
3.4e-37 |
PFAM |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
AT_hook
|
190 |
202 |
4.64e-1 |
SMART |
|
low complexity region
|
220 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
390 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
396 |
441 |
1e-3 |
SMART |
|
low complexity region
|
700 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
969 |
981 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1032 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1055 |
N/A |
INTRINSIC |
|
low complexity region
|
1060 |
1105 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163526
|
| 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 methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a gene trap allele show late embryonic lethality. Mice homozygous for a null allele die by E10.5 displaying a growth arrest, abnormal yolk sac angiogenesis and heart dilation while mutant ES cells show elevated apoptosis, G2 cell cycle arrest, telomere elongation and aneuploidy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,109,112 (GRCm39) |
V395A |
probably benign |
Het |
| Adck1 |
A |
T |
12: 88,425,900 (GRCm39) |
T443S |
probably benign |
Het |
| Axdnd1 |
G |
A |
1: 156,204,233 (GRCm39) |
A541V |
probably benign |
Het |
| B020011L13Rik |
A |
G |
1: 117,710,699 (GRCm39) |
D35G |
possibly damaging |
Het |
| Bmp3 |
T |
G |
5: 99,019,953 (GRCm39) |
I125M |
probably damaging |
Het |
| Cdc40 |
T |
C |
10: 40,725,824 (GRCm39) |
E215G |
probably benign |
Het |
| Ces1f |
A |
G |
8: 93,996,600 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
C |
14: 52,455,730 (GRCm39) |
V986G |
probably damaging |
Het |
| Clca4a |
A |
T |
3: 144,667,595 (GRCm39) |
|
probably benign |
Het |
| Crhbp |
T |
A |
13: 95,580,306 (GRCm39) |
E91V |
probably damaging |
Het |
| Dgkh |
T |
A |
14: 78,865,237 (GRCm39) |
H53L |
probably benign |
Het |
| Dnajc1 |
T |
C |
2: 18,222,132 (GRCm39) |
D532G |
possibly damaging |
Het |
| Evi5 |
C |
T |
5: 107,896,017 (GRCm39) |
V809M |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,245,120 (GRCm39) |
M256L |
probably benign |
Het |
| Fem1al |
T |
C |
11: 29,774,656 (GRCm39) |
D267G |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,784,422 (GRCm39) |
D292N |
probably damaging |
Het |
| Fmn1 |
C |
T |
2: 113,272,159 (GRCm39) |
|
probably benign |
Het |
| Htatsf1 |
T |
A |
X: 56,104,281 (GRCm39) |
D203E |
probably damaging |
Het |
| Kcnh1 |
T |
A |
1: 192,117,199 (GRCm39) |
L51Q |
probably damaging |
Het |
| Lamp5 |
A |
T |
2: 135,911,047 (GRCm39) |
H260L |
probably benign |
Het |
| Mindy4 |
T |
A |
6: 55,285,183 (GRCm39) |
V659D |
probably damaging |
Het |
| Mkks |
C |
A |
2: 136,718,090 (GRCm39) |
L397F |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,560,582 (GRCm39) |
S795F |
possibly damaging |
Het |
| Or13c7d |
A |
C |
4: 43,770,255 (GRCm39) |
F252C |
probably damaging |
Het |
| Or9g4 |
T |
C |
2: 85,505,025 (GRCm39) |
I157V |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,845,029 (GRCm39) |
M4V |
probably benign |
Het |
| Pdk3 |
A |
T |
X: 92,845,892 (GRCm39) |
I143N |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,635,873 (GRCm39) |
|
probably null |
Het |
| Prc1 |
C |
T |
7: 79,950,873 (GRCm39) |
T78I |
probably benign |
Het |
| Ret |
C |
A |
6: 118,152,028 (GRCm39) |
D569Y |
probably damaging |
Het |
| Samd9l |
G |
T |
6: 3,374,980 (GRCm39) |
N760K |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,471,137 (GRCm39) |
S460T |
probably benign |
Het |
| Slco1c1 |
A |
G |
6: 141,508,913 (GRCm39) |
I573M |
probably benign |
Het |
| Spata31f1e |
G |
A |
4: 42,793,764 (GRCm39) |
L123F |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,025,664 (GRCm39) |
D75G |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,736,205 (GRCm39) |
F1749L |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,910,231 (GRCm39) |
T123A |
possibly damaging |
Het |
| Tmc3 |
T |
C |
7: 83,265,094 (GRCm39) |
S663P |
possibly damaging |
Het |
| Vmn2r121 |
G |
T |
X: 123,042,618 (GRCm39) |
H180N |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,780,442 (GRCm39) |
F477L |
probably benign |
Het |
| Xpnpep2 |
A |
G |
X: 47,214,302 (GRCm39) |
|
probably null |
Het |
| Zfand4 |
T |
C |
6: 116,265,038 (GRCm39) |
F168L |
probably benign |
Het |
|
| Other mutations in Dot1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01836:Dot1l
|
APN |
10 |
80,621,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01915:Dot1l
|
APN |
10 |
80,616,728 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02287:Dot1l
|
APN |
10 |
80,600,443 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02695:Dot1l
|
APN |
10 |
80,613,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03071:Dot1l
|
APN |
10 |
80,624,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03120:Dot1l
|
APN |
10 |
80,622,107 (GRCm39) |
splice site |
probably benign |
|
|
R0220:Dot1l
|
UTSW |
10 |
80,621,692 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1342:Dot1l
|
UTSW |
10 |
80,621,859 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1701:Dot1l
|
UTSW |
10 |
80,626,576 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1862:Dot1l
|
UTSW |
10 |
80,619,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2094:Dot1l
|
UTSW |
10 |
80,621,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2308:Dot1l
|
UTSW |
10 |
80,624,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4274:Dot1l
|
UTSW |
10 |
80,619,822 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4617:Dot1l
|
UTSW |
10 |
80,620,918 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4623:Dot1l
|
UTSW |
10 |
80,617,984 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4690:Dot1l
|
UTSW |
10 |
80,622,016 (GRCm39) |
nonsense |
probably null |
|
|
R5009:Dot1l
|
UTSW |
10 |
80,607,030 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5072:Dot1l
|
UTSW |
10 |
80,620,480 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5073:Dot1l
|
UTSW |
10 |
80,620,480 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5074:Dot1l
|
UTSW |
10 |
80,620,480 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5305:Dot1l
|
UTSW |
10 |
80,626,627 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5312:Dot1l
|
UTSW |
10 |
80,620,471 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5512:Dot1l
|
UTSW |
10 |
80,624,825 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5551:Dot1l
|
UTSW |
10 |
80,619,462 (GRCm39) |
small deletion |
probably benign |
|
|
R5552:Dot1l
|
UTSW |
10 |
80,619,462 (GRCm39) |
small deletion |
probably benign |
|
|
R5553:Dot1l
|
UTSW |
10 |
80,619,462 (GRCm39) |
small deletion |
probably benign |
|
|
R6056:Dot1l
|
UTSW |
10 |
80,621,929 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6207:Dot1l
|
UTSW |
10 |
80,622,277 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6419:Dot1l
|
UTSW |
10 |
80,627,315 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6782:Dot1l
|
UTSW |
10 |
80,625,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7054:Dot1l
|
UTSW |
10 |
80,622,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7071:Dot1l
|
UTSW |
10 |
80,628,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7097:Dot1l
|
UTSW |
10 |
80,626,560 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7131:Dot1l
|
UTSW |
10 |
80,628,175 (GRCm39) |
missense |
unknown |
|
|
R7459:Dot1l
|
UTSW |
10 |
80,609,007 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7687:Dot1l
|
UTSW |
10 |
80,625,202 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7741:Dot1l
|
UTSW |
10 |
80,619,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8513:Dot1l
|
UTSW |
10 |
80,627,260 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8830:Dot1l
|
UTSW |
10 |
80,607,033 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8881:Dot1l
|
UTSW |
10 |
80,621,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9069:Dot1l
|
UTSW |
10 |
80,626,560 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9438:Dot1l
|
UTSW |
10 |
80,627,120 (GRCm39) |
missense |
probably benign |
|
|
R9439:Dot1l
|
UTSW |
10 |
80,621,438 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9664:Dot1l
|
UTSW |
10 |
80,624,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9671:Dot1l
|
UTSW |
10 |
80,620,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9727:Dot1l
|
UTSW |
10 |
80,628,382 (GRCm39) |
missense |
unknown |
|
|
R9787:Dot1l
|
UTSW |
10 |
80,600,472 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0066:Dot1l
|
UTSW |
10 |
80,624,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Dot1l
|
UTSW |
10 |
80,624,517 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2016-08-02 |
Incidental Mutation