Incidental Mutation 'R9439:Dot1l'
| ID |
713450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dot1l
|
| Ensembl Gene |
ENSMUSG00000061589 |
| Gene Name |
DOT1 like histone lysine methyltransferase |
| Synonyms |
KMT4, mDot1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9439 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80591040-80631295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 80621438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 633
(R633L)
|
| 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: R633L
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000100973
Gene: ENSMUSG00000061589
AA Change: R633L
| 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: ENSMUST00000149394
|
| SMART Domains |
Protein: ENSMUSP00000127762
Gene: ENSMUSG00000061589
| 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: R416L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116581
Gene: ENSMUSG00000061589
AA Change: R416L
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,772,048 (GRCm39) |
E412D |
probably benign |
Het |
| Aak1 |
T |
A |
6: 86,933,274 (GRCm39) |
V415D |
probably damaging |
Het |
| Ache |
A |
C |
5: 137,289,185 (GRCm39) |
D297A |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,084,687 (GRCm39) |
I4T |
possibly damaging |
Het |
| Atp8b2 |
T |
A |
3: 89,851,492 (GRCm39) |
Y925F |
|
Het |
| Avpr1b |
T |
C |
1: 131,528,029 (GRCm39) |
L184P |
probably damaging |
Het |
| Cabin1 |
G |
A |
10: 75,581,069 (GRCm39) |
P419L |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,884,597 (GRCm39) |
S1578G |
probably benign |
Het |
| Ccnd2 |
A |
T |
6: 127,127,617 (GRCm39) |
C40* |
probably null |
Het |
| Col6a3 |
A |
T |
1: 90,744,155 (GRCm39) |
I471N |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,046,671 (GRCm39) |
|
probably null |
Het |
| Cyfip2 |
C |
T |
11: 46,091,668 (GRCm39) |
R1084Q |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,412 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,012,330 (GRCm39) |
N3713S |
possibly damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,715,030 (GRCm39) |
M809K |
probably damaging |
Het |
| Fcgbp |
C |
A |
7: 27,803,436 (GRCm39) |
A1680E |
possibly damaging |
Het |
| Flt1 |
A |
G |
5: 147,515,207 (GRCm39) |
F1072L |
probably damaging |
Het |
| Gm19410 |
G |
T |
8: 36,248,810 (GRCm39) |
A549S |
probably damaging |
Het |
| Gm57859 |
C |
T |
11: 113,583,229 (GRCm39) |
Q519* |
probably null |
Het |
| Gnat1 |
A |
T |
9: 107,553,511 (GRCm39) |
I249N |
|
Het |
| Gp2 |
T |
C |
7: 119,053,433 (GRCm39) |
Y176C |
probably damaging |
Het |
| Gpc2 |
G |
T |
5: 138,277,248 (GRCm39) |
Q60K |
probably benign |
Het |
| Gpsm2 |
T |
A |
3: 108,610,397 (GRCm39) |
E21V |
probably damaging |
Het |
| Igkv4-80 |
T |
A |
6: 68,993,793 (GRCm39) |
M33L |
probably benign |
Het |
| Il20ra |
C |
A |
10: 19,618,751 (GRCm39) |
H66Q |
probably benign |
Het |
| Kap |
C |
T |
6: 133,828,950 (GRCm39) |
D61N |
probably benign |
Het |
| Magi3 |
C |
T |
3: 103,922,473 (GRCm39) |
A1415T |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,461,692 (GRCm39) |
Y60* |
probably null |
Het |
| Neil1 |
T |
A |
9: 57,051,098 (GRCm39) |
R294* |
probably null |
Het |
| Nkx6-3 |
A |
G |
8: 23,643,778 (GRCm39) |
S60G |
probably benign |
Het |
| Noc2l |
T |
A |
4: 156,326,130 (GRCm39) |
S406T |
possibly damaging |
Het |
| Or11m3 |
T |
C |
15: 98,396,247 (GRCm39) |
V298A |
possibly damaging |
Het |
| Or14j2 |
A |
G |
17: 37,885,825 (GRCm39) |
I163T |
probably benign |
Het |
| Or2h2c |
A |
G |
17: 37,422,205 (GRCm39) |
V223A |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,104 (GRCm39) |
C145R |
probably benign |
Het |
| Or51ac3 |
T |
G |
7: 103,214,049 (GRCm39) |
I146L |
probably benign |
Het |
| Or5p81 |
T |
C |
7: 108,266,626 (GRCm39) |
M1T |
probably null |
Het |
| Paqr4 |
A |
G |
17: 23,958,939 (GRCm39) |
F21L |
probably damaging |
Het |
| Pcdha9 |
A |
G |
18: 37,131,527 (GRCm39) |
T199A |
probably benign |
Het |
| Pcdhgb7 |
T |
C |
18: 37,884,917 (GRCm39) |
L29P |
probably benign |
Het |
| Pfkl |
G |
A |
10: 77,831,172 (GRCm39) |
A323V |
probably damaging |
Het |
| Pik3r4 |
C |
A |
9: 105,528,041 (GRCm39) |
P465T |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,274,189 (GRCm39) |
S307P |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,278,659 (GRCm39) |
Y191H |
probably damaging |
Het |
| Plod3 |
G |
A |
5: 137,023,036 (GRCm39) |
V613I |
probably benign |
Het |
| Prr23a2 |
C |
T |
9: 98,738,921 (GRCm39) |
T93I |
probably damaging |
Het |
| Ptk6 |
T |
A |
2: 180,840,206 (GRCm39) |
M267L |
possibly damaging |
Het |
| Rabl6 |
C |
T |
2: 25,492,432 (GRCm39) |
|
probably null |
Het |
| Ralgapa2 |
T |
C |
2: 146,254,058 (GRCm39) |
H787R |
probably benign |
Het |
| Rfx8 |
T |
G |
1: 39,724,669 (GRCm39) |
M231L |
probably benign |
Het |
| Rnf126 |
A |
T |
10: 79,597,465 (GRCm39) |
I149N |
probably damaging |
Het |
| Smpd4 |
A |
G |
16: 17,459,451 (GRCm39) |
I625V |
probably benign |
Het |
| Tcf7l1 |
A |
G |
6: 72,765,740 (GRCm39) |
S66P |
probably damaging |
Het |
| Tsc22d1 |
G |
A |
14: 76,743,899 (GRCm39) |
V1007M |
probably damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,665,535 (GRCm39) |
R758C |
probably damaging |
Het |
| Vmn1r210 |
A |
C |
13: 23,011,397 (GRCm39) |
H296Q |
possibly damaging |
Het |
| Zfp532 |
G |
A |
18: 65,818,714 (GRCm39) |
V857I |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,501,538 (GRCm39) |
T593A |
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 |
|
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 |
|
|
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'- ATTGCACTGTCCAGAGAGCC -3'
(R):5'- GGACTTTAACTGCAGGAGCTC -3'
Sequencing Primer
(F):5'- AGAGAGCCTGGCCCTTG -3'
(R):5'- CTCCACGATGCTGATCTAGAGGATG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation