Incidental Mutation 'R2094:Dot1l'
| ID |
231981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dot1l
|
| Ensembl Gene |
ENSMUSG00000061589 |
| Gene Name |
DOT1 like histone lysine methyltransferase |
| Synonyms |
KMT4, mDot1 |
| MMRRC Submission |
040098-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2094 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80591040-80631295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80621712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 455
(R455C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105336]
[ENSMUST00000127740]
[ENSMUST00000149394]
[ENSMUST00000150338]
|
| AlphaFold |
Q6XZL8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105336
AA Change: R672C
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100973
Gene: ENSMUSG00000061589
AA Change: R672C
| 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: R455C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116581
Gene: ENSMUSG00000061589
AA Change: R455C
| 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
|
| Meta Mutation Damage Score |
0.2557 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,857,154 (GRCm39) |
I169V |
probably benign |
Het |
| Arrdc5 |
A |
G |
17: 56,604,856 (GRCm39) |
S144P |
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,495,179 (GRCm39) |
M92V |
probably benign |
Het |
| Atg5 |
A |
G |
10: 44,195,544 (GRCm39) |
I189M |
probably damaging |
Het |
| Atmin |
A |
G |
8: 117,684,277 (GRCm39) |
T646A |
probably damaging |
Het |
| Atp1a2 |
G |
A |
1: 172,115,000 (GRCm39) |
R262W |
probably damaging |
Het |
| Atp6v1g2 |
A |
G |
17: 35,455,785 (GRCm39) |
K16E |
probably damaging |
Het |
| Bex6 |
G |
A |
16: 32,005,278 (GRCm39) |
E29K |
possibly damaging |
Het |
| Casd1 |
A |
G |
6: 4,608,705 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ccdc168 |
A |
C |
1: 44,098,890 (GRCm39) |
I736S |
probably benign |
Het |
| Cdx1 |
T |
C |
18: 61,168,984 (GRCm39) |
D70G |
possibly damaging |
Het |
| Cebpz |
T |
C |
17: 79,242,983 (GRCm39) |
T224A |
probably benign |
Het |
| Cep170b |
T |
C |
12: 112,702,164 (GRCm39) |
V319A |
possibly damaging |
Het |
| Chrna2 |
C |
T |
14: 66,386,912 (GRCm39) |
R353W |
possibly damaging |
Het |
| Chst5 |
A |
T |
8: 112,617,176 (GRCm39) |
V148E |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,507,771 (GRCm39) |
W162R |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,129,992 (GRCm39) |
Q1710L |
probably damaging |
Het |
| Ddb1 |
A |
C |
19: 10,590,300 (GRCm39) |
M276L |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,148,735 (GRCm39) |
V903A |
probably benign |
Het |
| Eno1b |
T |
C |
18: 48,180,542 (GRCm39) |
V240A |
possibly damaging |
Het |
| Erich1 |
T |
G |
8: 14,140,527 (GRCm39) |
|
probably benign |
Het |
| Ermp1 |
A |
C |
19: 29,617,328 (GRCm39) |
S227A |
probably benign |
Het |
| Etv1 |
C |
A |
12: 38,885,115 (GRCm39) |
P143Q |
probably null |
Het |
| Gimap8 |
A |
T |
6: 48,627,502 (GRCm39) |
I159F |
probably benign |
Het |
| Gpr4 |
G |
A |
7: 18,956,503 (GRCm39) |
V142M |
possibly damaging |
Het |
| Gucy1a1 |
C |
T |
3: 82,020,639 (GRCm39) |
C86Y |
probably benign |
Het |
| Ifngr2 |
T |
G |
16: 91,358,667 (GRCm39) |
|
probably null |
Het |
| Insrr |
A |
T |
3: 87,710,488 (GRCm39) |
N398I |
probably damaging |
Het |
| Iws1 |
A |
G |
18: 32,217,719 (GRCm39) |
E441G |
probably damaging |
Het |
| Larp7-ps |
A |
G |
4: 92,079,893 (GRCm39) |
S32P |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,414,785 (GRCm39) |
K732* |
probably null |
Het |
| Mprip |
T |
A |
11: 59,640,334 (GRCm39) |
|
probably benign |
Het |
| Mrgprb8 |
T |
C |
7: 48,038,953 (GRCm39) |
V208A |
probably benign |
Het |
| Msc |
G |
C |
1: 14,825,908 (GRCm39) |
P22R |
probably benign |
Het |
| Opcml |
G |
A |
9: 28,812,886 (GRCm39) |
E193K |
probably damaging |
Het |
| Or4k15b |
A |
T |
14: 50,272,171 (GRCm39) |
S230T |
probably damaging |
Het |
| Oxsr1 |
A |
C |
9: 119,123,560 (GRCm39) |
H71Q |
probably benign |
Het |
| Pkp2 |
T |
A |
16: 16,064,831 (GRCm39) |
W452R |
probably damaging |
Het |
| Prrc2b |
C |
T |
2: 32,072,582 (GRCm39) |
T20I |
probably damaging |
Het |
| Rasgrp3 |
T |
C |
17: 75,810,136 (GRCm39) |
S279P |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,557,831 (GRCm39) |
D1336V |
unknown |
Het |
| Serpina3m |
G |
T |
12: 104,355,529 (GRCm39) |
K65N |
probably benign |
Het |
| Serpine2 |
A |
G |
1: 79,788,411 (GRCm39) |
V182A |
probably damaging |
Het |
| Slc10a1 |
A |
G |
12: 81,002,822 (GRCm39) |
V272A |
possibly damaging |
Het |
| Slc25a29 |
A |
T |
12: 108,793,358 (GRCm39) |
N73K |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,594,819 (GRCm39) |
R1184W |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,031,403 (GRCm39) |
|
probably benign |
Het |
| Stk11ip |
A |
G |
1: 75,502,165 (GRCm39) |
|
probably benign |
Het |
| Tcerg1 |
A |
G |
18: 42,697,210 (GRCm39) |
K767R |
possibly damaging |
Het |
| Tmem82 |
T |
C |
4: 141,343,598 (GRCm39) |
K224R |
probably benign |
Het |
| Tmprss11g |
A |
G |
5: 86,647,415 (GRCm39) |
L41S |
probably damaging |
Het |
| Trim42 |
T |
C |
9: 97,248,150 (GRCm39) |
N182S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,660,432 (GRCm39) |
T7430A |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,650,390 (GRCm39) |
T259A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTTGCATCAGACCCCATC -3'
(R):5'- ATGGCCGACTAGCTGCATTG -3'
Sequencing Primer
(F):5'- CCCTCAGAAAGGCATCTGTGATG -3'
(R):5'- TGCATTGCAGAGCTCATAGC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation