Incidental Mutation 'R6782:Dot1l'
| ID |
531477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dot1l
|
| Ensembl Gene |
ENSMUSG00000061589 |
| Gene Name |
DOT1 like histone lysine methyltransferase |
| Synonyms |
KMT4, mDot1 |
| MMRRC Submission |
044896-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6782 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80591040-80631295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80625224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 1157
(P1157L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105336]
[ENSMUST00000127740]
[ENSMUST00000149394]
[ENSMUST00000150338]
|
| AlphaFold |
Q6XZL8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105336
AA Change: P1157L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000100973
Gene: ENSMUSG00000061589
AA Change: P1157L
| 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: P36L
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127762
Gene: ENSMUSG00000061589
AA Change: P36L
| 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
AA Change: P940L
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000116581
Gene: ENSMUSG00000061589
AA Change: P940L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.7%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
C |
T |
7: 119,847,308 (GRCm39) |
A724V |
probably damaging |
Het |
| Abcc3 |
A |
T |
11: 94,249,776 (GRCm39) |
F1055L |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Ankrd17 |
T |
C |
5: 90,402,597 (GRCm39) |
K1488R |
possibly damaging |
Het |
| Ano1 |
G |
A |
7: 144,175,424 (GRCm39) |
T498I |
probably damaging |
Het |
| Arhgap42 |
T |
A |
9: 9,115,721 (GRCm39) |
K118N |
probably damaging |
Het |
| Arl5b |
A |
G |
2: 15,077,993 (GRCm39) |
E106G |
probably damaging |
Het |
| Atp5mc3 |
C |
T |
2: 73,739,672 (GRCm39) |
R56Q |
probably benign |
Het |
| Bbx |
T |
C |
16: 50,020,928 (GRCm39) |
R749G |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,350,376 (GRCm39) |
S490P |
probably damaging |
Het |
| Ccdc63 |
A |
T |
5: 122,249,077 (GRCm39) |
Y417* |
probably null |
Het |
| Cep162 |
A |
T |
9: 87,093,737 (GRCm39) |
N880K |
probably benign |
Het |
| Chd2 |
G |
A |
7: 73,125,127 (GRCm39) |
Q77* |
probably null |
Het |
| Cntrl |
T |
G |
2: 35,060,658 (GRCm39) |
M1397R |
possibly damaging |
Het |
| Dcaf7 |
A |
G |
11: 105,945,581 (GRCm39) |
Y310C |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,449,302 (GRCm39) |
S4235T |
possibly damaging |
Het |
| Esco2 |
T |
C |
14: 66,057,465 (GRCm39) |
T577A |
probably benign |
Het |
| Foxp1 |
T |
C |
6: 98,907,106 (GRCm39) |
D624G |
probably damaging |
Het |
| Gfi1 |
A |
T |
5: 107,873,819 (GRCm39) |
|
probably null |
Het |
| Gm10985 |
TTCTCTCTCTCTCTCTCT |
TTCTCTCTCTCTCTCT |
3: 53,752,626 (GRCm39) |
|
probably null |
Het |
| Gm5113 |
G |
A |
7: 29,878,178 (GRCm39) |
V89I |
probably benign |
Het |
| Gtf3c2 |
A |
C |
5: 31,327,180 (GRCm39) |
L382R |
probably benign |
Het |
| H3c2 |
T |
C |
13: 23,936,393 (GRCm39) |
S11P |
probably benign |
Het |
| Hhip |
T |
C |
8: 80,778,233 (GRCm39) |
N99S |
probably damaging |
Het |
| Htr5b |
T |
C |
1: 121,438,227 (GRCm39) |
I335V |
probably benign |
Het |
| Ifi206 |
A |
G |
1: 173,308,923 (GRCm39) |
S358P |
unknown |
Het |
| Loxhd1 |
T |
A |
18: 77,518,873 (GRCm39) |
V1893D |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,945,968 (GRCm39) |
R11G |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
| Npr1 |
T |
C |
3: 90,363,560 (GRCm39) |
N821S |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,137,090 (GRCm39) |
D180G |
probably damaging |
Het |
| Or52a24 |
A |
G |
7: 103,381,549 (GRCm39) |
T139A |
possibly damaging |
Het |
| Or5p63 |
T |
C |
7: 107,811,670 (GRCm39) |
D22G |
probably benign |
Het |
| Or5p70 |
T |
G |
7: 107,994,744 (GRCm39) |
M139R |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,143,852 (GRCm39) |
D739V |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Ptprd |
T |
C |
4: 76,243,377 (GRCm39) |
|
probably null |
Het |
| Ralgapb |
G |
A |
2: 158,278,486 (GRCm39) |
G5R |
probably damaging |
Het |
| Ric8b |
T |
C |
10: 84,783,391 (GRCm39) |
V83A |
probably damaging |
Het |
| Sdc2 |
C |
A |
15: 33,028,281 (GRCm39) |
T133K |
probably damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,947,088 (GRCm39) |
V592D |
probably damaging |
Het |
| Sorcs1 |
G |
T |
19: 50,164,560 (GRCm39) |
Y990* |
probably null |
Het |
| Spata13 |
G |
T |
14: 60,928,912 (GRCm39) |
G157W |
probably damaging |
Het |
| Tada1 |
A |
G |
1: 166,217,541 (GRCm39) |
N226S |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 49,099,291 (GRCm39) |
|
probably null |
Het |
| Tll1 |
A |
G |
8: 64,524,315 (GRCm39) |
V457A |
probably benign |
Het |
| Tmem232 |
T |
C |
17: 65,807,119 (GRCm39) |
K25E |
possibly damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,773,063 (GRCm39) |
S406G |
unknown |
Het |
| Ush2a |
A |
G |
1: 188,089,031 (GRCm39) |
M329V |
probably benign |
Het |
| Vmn2r107 |
T |
C |
17: 20,577,141 (GRCm39) |
S380P |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,519,563 (GRCm39) |
M465T |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Zfp217 |
T |
C |
2: 169,958,178 (GRCm39) |
D463G |
probably damaging |
Het |
| Zfp345 |
T |
C |
2: 150,315,274 (GRCm39) |
S88G |
probably damaging |
Het |
| Zfp975 |
A |
C |
7: 42,311,454 (GRCm39) |
N386K |
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 |
|
IGL03058:Dot1l
|
APN |
10 |
80,626,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATCCAGAGACATAGCAGCTAG -3'
(R):5'- CTGGTCCAAGACTTTCACCC -3'
Sequencing Primer
(F):5'- CAGGGACAATGGCTGGTATTC -3'
(R):5'- TTTCACCCCACAGAGCAGTTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation