Incidental Mutation 'R9727:Dot1l'
| ID |
731106 |
| 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 # |
R9727 (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 C
at 80628382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1140
(L1140P)
|
| 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: L171P
| 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 |
unknown
Transcript: ENSMUST00000150338
AA Change: L1140P
|
| SMART Domains |
Protein: ENSMUSP00000116581
Gene: ENSMUSG00000061589
AA Change: L1140P
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akirin2 |
A |
G |
4: 34,565,248 (GRCm39) |
Y165C |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,286,473 (GRCm39) |
I702V |
probably benign |
Het |
| Arhgef33 |
A |
G |
17: 80,678,720 (GRCm39) |
Y472C |
probably damaging |
Het |
| Atp13a4 |
T |
G |
16: 29,228,589 (GRCm39) |
S964R |
|
Het |
| Atp1a2 |
T |
A |
1: 172,118,936 (GRCm39) |
I69F |
probably benign |
Het |
| Bub1 |
T |
C |
2: 127,652,609 (GRCm39) |
D586G |
possibly damaging |
Het |
| Ccdc177 |
C |
A |
12: 80,806,044 (GRCm39) |
A77S |
probably benign |
Het |
| Ccdc187 |
A |
G |
2: 26,171,204 (GRCm39) |
W425R |
probably damaging |
Het |
| Ccn2 |
A |
G |
10: 24,471,820 (GRCm39) |
E37G |
probably benign |
Het |
| Ccsap |
T |
C |
8: 124,572,169 (GRCm39) |
D111G |
possibly damaging |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
C |
A |
7: 16,892,262 (GRCm39) |
T335K |
|
Het |
| Col22a1 |
A |
T |
15: 71,849,123 (GRCm39) |
W322R |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,415,818 (GRCm39) |
V1443A |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,523,510 (GRCm39) |
Q2000* |
probably null |
Het |
| Dock7 |
G |
T |
4: 98,875,568 (GRCm39) |
T1154K |
unknown |
Het |
| Dst |
G |
A |
1: 34,314,877 (GRCm39) |
V4489M |
probably damaging |
Het |
| Duox2 |
G |
A |
2: 122,116,998 (GRCm39) |
R960* |
probably null |
Het |
| Elavl2 |
T |
C |
4: 91,169,495 (GRCm39) |
I97V |
probably benign |
Het |
| Emp1 |
G |
T |
6: 135,358,016 (GRCm39) |
A121S |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,287,702 (GRCm39) |
R1594S |
probably damaging |
Het |
| Fam186b |
C |
T |
15: 99,171,669 (GRCm39) |
M859I |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,159,137 (GRCm39) |
V3345A |
probably damaging |
Het |
| Gtf2f1 |
A |
T |
17: 57,318,005 (GRCm39) |
N10K |
possibly damaging |
Het |
| Hid1 |
T |
G |
11: 115,245,939 (GRCm39) |
K384N |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,674,566 (GRCm39) |
R579G |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,857,554 (GRCm39) |
V1078D |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,357,001 (GRCm39) |
M43K |
probably damaging |
Het |
| Kdm3a |
A |
T |
6: 71,569,094 (GRCm39) |
Y1134* |
probably null |
Het |
| Kif12 |
T |
A |
4: 63,085,978 (GRCm39) |
N429I |
probably damaging |
Het |
| Kif18a |
C |
T |
2: 109,118,464 (GRCm39) |
T93I |
probably damaging |
Het |
| Krtap9-5 |
T |
A |
11: 99,839,340 (GRCm39) |
C14S |
possibly damaging |
Het |
| Lgals8 |
A |
T |
13: 12,462,038 (GRCm39) |
M264K |
possibly damaging |
Het |
| Mlxipl |
T |
A |
5: 135,150,388 (GRCm39) |
C143* |
probably null |
Het |
| Mtcl2 |
T |
A |
2: 156,862,168 (GRCm39) |
Q1587L |
possibly damaging |
Het |
| Mvp |
A |
T |
7: 126,595,040 (GRCm39) |
H268Q |
probably damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nos2 |
A |
G |
11: 78,843,825 (GRCm39) |
Y924C |
possibly damaging |
Het |
| Or4f52 |
A |
T |
2: 111,061,961 (GRCm39) |
M59K |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,487,231 (GRCm39) |
N449S |
probably benign |
Het |
| Pot1b |
A |
C |
17: 55,999,795 (GRCm39) |
I210S |
possibly damaging |
Het |
| Ptrh1 |
T |
A |
2: 32,665,854 (GRCm39) |
W5R |
probably benign |
Het |
| Rasgrp3 |
A |
G |
17: 75,810,239 (GRCm39) |
H313R |
probably damaging |
Het |
| Ric1 |
A |
T |
19: 29,575,258 (GRCm39) |
I984F |
probably damaging |
Het |
| Rin2 |
G |
A |
2: 145,702,506 (GRCm39) |
A401T |
possibly damaging |
Het |
| Rmdn3 |
C |
A |
2: 118,968,827 (GRCm39) |
|
probably null |
Het |
| Senp7 |
A |
T |
16: 55,990,169 (GRCm39) |
H639L |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,471,829 (GRCm39) |
S1270P |
probably damaging |
Het |
| Slc22a28 |
T |
A |
19: 8,108,818 (GRCm39) |
E108V |
probably benign |
Het |
| Slc7a5 |
A |
G |
8: 122,613,085 (GRCm39) |
I331T |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,611,160 (GRCm39) |
Y1467H |
probably damaging |
Het |
| Srebf2 |
T |
A |
15: 82,076,506 (GRCm39) |
F759I |
possibly damaging |
Het |
| Thumpd2 |
A |
T |
17: 81,345,585 (GRCm39) |
D304E |
probably damaging |
Het |
| Tmem59 |
A |
G |
4: 107,050,547 (GRCm39) |
E226G |
probably benign |
Het |
| Trpv1 |
A |
C |
11: 73,130,347 (GRCm39) |
D151A |
probably damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,651,751 (GRCm39) |
D607G |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,140,735 (GRCm39) |
V1218E |
probably damaging |
Het |
| Ugt2b5 |
T |
A |
5: 87,288,165 (GRCm39) |
M1L |
probably damaging |
Het |
| Vwa5b2 |
C |
T |
16: 20,423,477 (GRCm39) |
A1130V |
probably damaging |
Het |
| Wdr4 |
T |
C |
17: 31,718,045 (GRCm39) |
E343G |
probably benign |
Het |
| Zbtb34 |
C |
A |
2: 33,301,533 (GRCm39) |
R336L |
probably benign |
Het |
| Zfp607b |
T |
C |
7: 27,403,125 (GRCm39) |
V527A |
probably benign |
Het |
| Zfp949 |
T |
A |
9: 88,451,913 (GRCm39) |
C494* |
probably null |
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 |
|
|
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 |
|
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'- ACAGGTGTCTTTACCCACGC -3'
(R):5'- GGTCTTTATCGAGGCTTAACCC -3'
Sequencing Primer
(F):5'- CTGTGTGTAGCAGTGCCAC -3'
(R):5'- AGGCTTAACCCCCGAAAGGTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation