Incidental Mutation 'R7687:Dot1l'
ID |
593158 |
Institutional Source |
Beutler Lab
|
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 # |
R7687 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
80591040-80631295 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 80625202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 1150
(S1150A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105336]
[ENSMUST00000127740]
[ENSMUST00000149394]
[ENSMUST00000150338]
|
AlphaFold |
Q6XZL8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105336
AA Change: S1150A
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000100973 Gene: ENSMUSG00000061589 AA Change: S1150A
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 damaging
Transcript: ENSMUST00000149394
AA Change: S29A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127762 Gene: ENSMUSG00000061589 AA Change: S29A
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 damaging
Transcript: ENSMUST00000150338
AA Change: S933A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000116581 Gene: ENSMUSG00000061589 AA Change: S933A
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,297,341 (GRCm39) |
K2383R |
probably benign |
Het |
Acly |
C |
T |
11: 100,395,680 (GRCm39) |
|
probably null |
Het |
Baiap3 |
T |
A |
17: 25,468,311 (GRCm39) |
I276F |
possibly damaging |
Het |
Cdc14b |
A |
T |
13: 64,357,007 (GRCm39) |
D419E |
probably benign |
Het |
Celsr2 |
G |
T |
3: 108,305,085 (GRCm39) |
P2165T |
probably benign |
Het |
Clk4 |
A |
G |
11: 51,172,225 (GRCm39) |
D476G |
probably benign |
Het |
Dera |
A |
G |
6: 137,813,878 (GRCm39) |
T10A |
|
Het |
Dip2c |
A |
T |
13: 9,654,617 (GRCm39) |
T742S |
probably benign |
Het |
Dohh |
C |
A |
10: 81,223,640 (GRCm39) |
A231E |
probably benign |
Het |
Eea1 |
T |
A |
10: 95,862,460 (GRCm39) |
I794N |
probably benign |
Het |
En2 |
T |
C |
5: 28,375,287 (GRCm39) |
S277P |
probably damaging |
Het |
Erich1 |
A |
G |
8: 14,080,691 (GRCm39) |
L276P |
probably damaging |
Het |
Flnb |
A |
G |
14: 7,924,224 (GRCm38) |
N1779S |
probably damaging |
Het |
Frzb |
T |
A |
2: 80,254,979 (GRCm39) |
T186S |
probably benign |
Het |
Gdf7 |
T |
A |
12: 8,348,257 (GRCm39) |
R347* |
probably null |
Het |
Ighv9-4 |
T |
C |
12: 114,263,883 (GRCm39) |
I17V |
not run |
Het |
Ipo13 |
G |
A |
4: 117,769,088 (GRCm39) |
P235S |
probably benign |
Het |
Itga2 |
C |
A |
13: 115,002,796 (GRCm39) |
G565C |
probably damaging |
Het |
Kcnc4 |
CCCGCCGCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGCCGCCGCCGCCGC |
3: 107,365,925 (GRCm39) |
|
probably benign |
Het |
Kcnk10 |
A |
G |
12: 98,401,355 (GRCm39) |
I440T |
probably damaging |
Het |
Kdm3a |
T |
A |
6: 71,576,476 (GRCm39) |
K779N |
possibly damaging |
Het |
Kmt2d |
C |
T |
15: 98,760,001 (GRCm39) |
D1086N |
unknown |
Het |
Kntc1 |
A |
G |
5: 123,897,152 (GRCm39) |
I172V |
probably benign |
Het |
Maip1 |
A |
G |
1: 57,451,003 (GRCm39) |
E215G |
probably damaging |
Het |
Mms19 |
A |
T |
19: 41,943,607 (GRCm39) |
M417K |
possibly damaging |
Het |
Mslnl |
T |
C |
17: 25,962,157 (GRCm39) |
V185A |
probably damaging |
Het |
Naa11 |
A |
T |
5: 97,539,648 (GRCm39) |
V170E |
probably benign |
Het |
Ncapg |
C |
T |
5: 45,857,227 (GRCm39) |
P980S |
probably benign |
Het |
Or2aj5 |
T |
C |
16: 19,424,485 (GRCm39) |
N310S |
probably benign |
Het |
Pbxip1 |
A |
G |
3: 89,355,506 (GRCm39) |
D675G |
probably damaging |
Het |
Pdlim5 |
A |
G |
3: 141,983,608 (GRCm39) |
S382P |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,804,390 (GRCm39) |
I2184F |
|
Het |
Plau |
A |
G |
14: 20,889,866 (GRCm39) |
Y237C |
probably damaging |
Het |
Ppl |
T |
C |
16: 4,915,806 (GRCm39) |
T586A |
probably benign |
Het |
Rapgef6 |
T |
G |
11: 54,551,901 (GRCm39) |
I923S |
possibly damaging |
Het |
Rbfox2 |
C |
T |
15: 77,190,694 (GRCm39) |
G17D |
unknown |
Het |
Sema3b |
T |
C |
9: 107,481,013 (GRCm39) |
D108G |
probably damaging |
Het |
Slc6a20a |
A |
G |
9: 123,485,331 (GRCm39) |
I297T |
probably damaging |
Het |
Slit1 |
A |
G |
19: 41,639,128 (GRCm39) |
F261L |
probably benign |
Het |
Tcp10a |
T |
A |
17: 7,612,507 (GRCm39) |
V433D |
probably damaging |
Het |
Tktl2 |
A |
G |
8: 66,965,753 (GRCm39) |
E437G |
probably damaging |
Het |
Tll1 |
G |
T |
8: 64,574,526 (GRCm39) |
Y109* |
probably null |
Het |
Tmem79 |
A |
G |
3: 88,239,888 (GRCm39) |
V274A |
probably damaging |
Het |
Tnfrsf23 |
G |
A |
7: 143,235,199 (GRCm39) |
S55L |
probably benign |
Het |
Ubd |
T |
C |
17: 37,504,865 (GRCm39) |
|
probably null |
Het |
Ubl3 |
C |
A |
5: 148,442,985 (GRCm39) |
R105L |
possibly damaging |
Het |
Ubl7 |
A |
T |
9: 57,821,867 (GRCm39) |
D72V |
probably damaging |
Het |
Wdr55 |
T |
C |
18: 36,895,076 (GRCm39) |
S81P |
probably damaging |
Het |
Wtip |
T |
C |
7: 33,816,044 (GRCm39) |
Y344C |
probably damaging |
Het |
Zfp488 |
A |
G |
14: 33,692,357 (GRCm39) |
S269P |
possibly damaging |
Het |
Zkscan2 |
A |
C |
7: 123,099,085 (GRCm39) |
S36A |
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 |
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 |
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'- ATCCAGAGACATAGCAGCTAGG -3'
(R):5'- CACCTGGTCCAAGACTTTCAC -3'
Sequencing Primer
(F):5'- CATAGCAGCTAGGCGTGG -3'
(R):5'- TTTCACCCCACAGAGCAGTTC -3'
|
Posted On |
2019-11-12 |