Incidental Mutation 'R7071:Dot1l'
ID |
548913 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dot1l
|
Ensembl Gene |
ENSMUSG00000061589 |
Gene Name |
DOT1 like histone lysine methyltransferase |
Synonyms |
KMT4, mDot1 |
MMRRC Submission |
045167-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7071 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
80591040-80631295 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 80628079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 1039
(L1039Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036805]
[ENSMUST00000105336]
[ENSMUST00000127740]
[ENSMUST00000149394]
[ENSMUST00000150338]
[ENSMUST00000219378]
[ENSMUST00000219959]
|
AlphaFold |
Q6XZL8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036805
|
SMART Domains |
Protein: ENSMUSP00000042334 Gene: ENSMUSG00000035278
Domain | Start | End | E-Value | Type |
PH
|
16 |
110 |
1.48e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105336
|
SMART Domains |
Protein: ENSMUSP00000100973 Gene: ENSMUSG00000061589
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 |
|
SMART Domains |
Protein: ENSMUSP00000119492 Gene: ENSMUSG00000061589 AA Change: L70Q
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
|
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 benign
Transcript: ENSMUST00000150338
AA Change: L1039Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000116581 Gene: ENSMUSG00000061589 AA Change: L1039Q
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 |
probably benign
Transcript: ENSMUST00000219378
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219959
|
Meta Mutation Damage Score |
0.0708 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
95% (41/43) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
C |
T |
16: 56,449,503 (GRCm39) |
Q854* |
probably null |
Het |
Arl2bp |
G |
T |
8: 95,393,794 (GRCm39) |
|
probably benign |
Het |
Astl |
T |
C |
2: 127,187,885 (GRCm39) |
M121T |
probably benign |
Het |
Atrip |
T |
C |
9: 108,896,082 (GRCm39) |
|
probably null |
Het |
Camk1g |
A |
T |
1: 193,042,117 (GRCm39) |
V44E |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,866,455 (GRCm39) |
H804R |
probably benign |
Het |
Cd300a |
T |
C |
11: 114,792,099 (GRCm39) |
S314P |
probably damaging |
Het |
Ceacam5 |
A |
T |
7: 17,484,577 (GRCm39) |
I440L |
possibly damaging |
Het |
Cfap61 |
T |
G |
2: 145,843,832 (GRCm39) |
I306R |
probably benign |
Het |
Cnot10 |
T |
C |
9: 114,446,787 (GRCm39) |
|
probably null |
Het |
Cntln |
T |
A |
4: 85,018,622 (GRCm39) |
L76Q |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,204,795 (GRCm39) |
C636R |
probably benign |
Het |
Dnm3 |
A |
T |
1: 161,847,412 (GRCm39) |
H148Q |
probably damaging |
Het |
Faiml |
T |
A |
9: 99,118,400 (GRCm39) |
M1L |
unknown |
Het |
Fat1 |
T |
G |
8: 45,442,145 (GRCm39) |
I1149S |
possibly damaging |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Gm11938 |
A |
T |
11: 99,493,910 (GRCm39) |
C62S |
probably damaging |
Het |
Gtf2i |
A |
G |
5: 134,292,475 (GRCm39) |
L423S |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,479,853 (GRCm39) |
C4582S |
probably damaging |
Het |
Ifitm3 |
A |
G |
7: 140,590,437 (GRCm39) |
V41A |
probably benign |
Het |
Ipo11 |
T |
A |
13: 107,061,604 (GRCm39) |
S19C |
probably damaging |
Het |
Khsrp |
C |
A |
17: 57,332,386 (GRCm39) |
M268I |
possibly damaging |
Het |
Lrp1b |
T |
G |
2: 41,298,276 (GRCm39) |
D1036A |
|
Het |
Mecom |
T |
G |
3: 30,034,857 (GRCm39) |
H273P |
probably damaging |
Het |
Mfn1 |
G |
A |
3: 32,622,544 (GRCm39) |
V601I |
probably benign |
Het |
Mrps5 |
T |
A |
2: 127,442,772 (GRCm39) |
Y280* |
probably null |
Het |
Myo18a |
A |
G |
11: 77,714,653 (GRCm39) |
T811A |
probably damaging |
Het |
Ndfip2 |
A |
C |
14: 105,539,760 (GRCm39) |
N292H |
possibly damaging |
Het |
Or2ak5 |
C |
A |
11: 58,610,984 (GRCm39) |
V297F |
possibly damaging |
Het |
Otog |
T |
A |
7: 45,916,747 (GRCm39) |
C895S |
probably damaging |
Het |
Pacs1 |
A |
T |
19: 5,206,402 (GRCm39) |
I261N |
possibly damaging |
Het |
Pira13 |
A |
G |
7: 3,824,667 (GRCm39) |
S573P |
unknown |
Het |
Ptprn |
A |
T |
1: 75,237,263 (GRCm39) |
M113K |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,473,807 (GRCm39) |
H445R |
probably damaging |
Het |
Ranbp2 |
T |
G |
10: 58,328,659 (GRCm39) |
F2853V |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,636,277 (GRCm39) |
F647Y |
unknown |
Het |
Stt3b |
T |
C |
9: 115,083,085 (GRCm39) |
Y449C |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
Zfp451 |
A |
C |
1: 33,815,825 (GRCm39) |
D708E |
possibly damaging |
Het |
Zfp456 |
T |
C |
13: 67,520,896 (GRCm39) |
E33G |
probably damaging |
Het |
Zfp599 |
T |
C |
9: 22,169,392 (GRCm39) |
T27A |
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 |
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'- GCCTGGTGAGAAATGAGTCCAG -3'
(R):5'- ACTGGCTCAGGGTTAGAAGC -3'
Sequencing Primer
(F):5'- TGGCAGGTAAGTGTCCCAC -3'
(R):5'- GGGTTAGAAGCCAGCAGC -3'
|
Posted On |
2019-05-15 |